#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
RCC2	55920	broad.mit.edu	37	1	17743045	17743045	+	Silent	SNP	C	C	T	rs11588635	byFrequency	TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:17743045C>T	ENST00000375436.4	-	8	1144	c.957G>A	c.(955-957)acG>acA	p.T319T	AC004824.1_ENST00000583469.1_RNA|RCC2_ENST00000375433.3_Silent_p.T319T	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	319					chromosome passenger complex localization to kinetochore (GO:0072356)|endosome organization (GO:0007032)|focal adhesion assembly (GO:0048041)|integrin-mediated signaling pathway (GO:0007229)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of GTPase activity (GO:0034260)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|regulation of cell migration (GO:0030334)	chromosome, centromeric core domain (GO:0034506)|cytosol (GO:0005829)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|Rac GTPase binding (GO:0048365)			breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		GTCCATCTTTCGTCTTCTCAA	0.547													C|||	18	0.00359425	0.0136	0.0	5008	,	,		20670	0.0		0.0	False		,,,				2504	0.0					uc001bal.2		NA																	0					0						c.(955-957)ACG>ACA		regulator of chromosome condensation 2		C	,	31,4375	37.6+/-69.7	0,31,2172	116.0	92.0	100.0		957,957	-5.2	0.9	1	dbSNP_120	100	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous,coding-synonymous	RCC2	NM_001136204.2,NM_018715.3	,	0,34,6469	TT,TC,CC		0.0349,0.7036,0.2614	,	319/523,319/523	17743045	34,12972	2203	4300	6503	SO:0001819	synonymous_variant	55920				cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle		g.chr1:17743045C>T		CCDS181.1	1p36.13	2010-05-05			ENSG00000179051	ENSG00000179051			30297	protein-coding gene	gene with protein product		609587				10819331, 12919680	Standard	NM_018715		Approved	TD-60	uc001bal.3	Q9P258	OTTHUMG00000002513	ENST00000375436.4:c.957G>A	1.37:g.17743045C>T						RCC2_uc001bam.2_Silent_p.T319T	p.T319T	NM_001136204	NP_001129676	Q9P258	RCC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	7	1004	-		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	319			RCC1 4.		Q8IVL9|Q9BSN6|Q9NPV8	Silent	SNP	ENST00000375436.4	37	c.957G>A	CCDS181.1																																																																																				0.547	RCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007144.1	NM_018715		7	99	0	0	0	0	7	99				
PHC2	1912	broad.mit.edu	37	1	33820075	33820075	+	Silent	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:33820075C>T	ENST00000257118.5	-	8	1535	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	PHC2_ENST00000419414.2_Silent_p.Q495Q|PHC2_ENST00000373422.3_Silent_p.Q100Q|PHC2_ENST00000431992.1_Silent_p.Q465Q|PHC2_ENST00000373416.1_5'UTR|RP11-415J8.5_ENST00000432703.1_RNA	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	494					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TGACAATAGCCTGCTGATGTG	0.607																																						uc001bxg.1		NA																	0				ovary(1)	1						c.(1480-1482)CAG>CAA		polyhomeotic-like 2 isoform a							120.0	101.0	107.0					1																	33820075		2203	4300	6503	SO:0001819	synonymous_variant	1912				multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding	g.chr1:33820075C>T	AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.1482G>A	1.37:g.33820075C>T						PHC2_uc001bxh.1_Silent_p.Q466Q|PHC2_uc009vuh.1_Silent_p.Q495Q	p.Q494Q	NM_198040	NP_932157	Q8IXK0	PHC2_HUMAN			8	1536	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	494					A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Silent	SNP	ENST00000257118.5	37	c.1482G>A	CCDS378.1																																																																																				0.607	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040		43	63	0	0	0	0	43	63				
DMRTB1	63948	broad.mit.edu	37	1	53925281	53925281	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:53925281C>A	ENST00000371445.3	+	1	210	c.155C>A	c.(154-156)gCg>gAg	p.A52E		NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	52					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						ATCATGGCCGCGCAGAAGGTG	0.697																																						uc001cvq.1		NA																	0				ovary(1)|skin(1)	2						c.(154-156)GCG>GAG		DMRT-like family B with proline-rich C-terminal,							12.0	14.0	13.0					1																	53925281		2202	4296	6498	SO:0001583	missense	63948				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr1:53925281C>A	AJ291671	CCDS581.1	1p32	2008-08-29			ENSG00000143006	ENSG00000143006			13913	protein-coding gene	gene with protein product		614805					Standard	NM_033067		Approved		uc001cvq.1	Q96MA1	OTTHUMG00000008080	ENST00000371445.3:c.155C>A	1.37:g.53925281C>A	ENSP00000360500:p.Ala52Glu						p.A52E	NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN			1	210	+			52			DM.		Q96SD2	Missense_Mutation	SNP	ENST00000371445.3	37	c.155C>A	CCDS581.1	.	.	.	.	.	.	.	.	.	.	C	32	5.120388	0.94385	.	.	ENSG00000143006	ENST00000371445	.	.	.	4.69	4.69	0.59074	DM DNA-binding (5);	0.000000	0.56097	D	0.000040	D	0.86560	0.5962	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90416	0.4413	9	0.87932	D	0	-30.2551	17.8656	0.88794	0.0:1.0:0.0:0.0	.	52	Q96MA1	DMRTB_HUMAN	E	52	.	ENSP00000360500:A52E	A	+	2	0	DMRTB1	53697869	0.999000	0.42202	0.689000	0.30133	0.931000	0.56810	3.843000	0.55865	2.440000	0.82611	0.650000	0.86243	GCG		0.697	DMRTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022110.1			4	8	1	0	0.00909568	0.00951273	4	8				
SSX2IP	117178	broad.mit.edu	37	1	85135504	85135504	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:85135504T>C	ENST00000342203.3	-	4	549	c.286A>G	c.(286-288)Ata>Gta	p.I96V	SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000370612.4_Missense_Mutation_p.I96V|SSX2IP_ENST00000437941.2_Missense_Mutation_p.I69V|SSX2IP_ENST00000605755.1_Missense_Mutation_p.I69V	NM_001166293.1|NM_001166294.1|NM_014021.3	NP_001159765.1|NP_001159766.1|NP_054740.3	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	96					cell adhesion (GO:0007155)|centrosome organization (GO:0051297)|regulation of cell motility (GO:2000145)|regulation of Rac protein signal transduction (GO:0035020)	cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|centriolar satellite (GO:0034451)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		ACAGCTACTATATTTAACTCT	0.368																																						uc001dkh.2		NA																	0				ovary(2)	2						c.(286-288)ATA>GTA		synovial sarcoma, X breakpoint 2 interacting							108.0	114.0	112.0					1																	85135504		2203	4300	6503	SO:0001583	missense	117178				cell adhesion	nucleus|protein complex		g.chr1:85135504T>C		CCDS699.1, CCDS53337.1	1p22.3	2008-02-05			ENSG00000117155	ENSG00000117155			16509	protein-coding gene	gene with protein product		608690					Standard	NM_014021		Approved		uc001dkj.3	Q9Y2D8	OTTHUMG00000009926	ENST00000342203.3:c.286A>G	1.37:g.85135504T>C	ENSP00000340279:p.Ile96Val					SSX2IP_uc001dkf.2_Missense_Mutation_p.I69V|SSX2IP_uc001dkg.2_RNA|SSX2IP_uc010orz.1_Missense_Mutation_p.I69V|SSX2IP_uc001dki.2_Missense_Mutation_p.I96V|SSX2IP_uc010osa.1_Missense_Mutation_p.I69V|SSX2IP_uc001dkj.2_Missense_Mutation_p.I96V|SSX2IP_uc009wci.2_Intron|SSX2IP_uc001dkk.1_Missense_Mutation_p.I92V	p.I96V	NM_014021	NP_054740	Q9Y2D8	ADIP_HUMAN		all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	5	561	-			96					A8K8W0|B4DFE3|D3DT13|J3KR02|Q6P2P8|Q6ULS1|Q7L168|Q9UIX0	Missense_Mutation	SNP	ENST00000342203.3	37	c.286A>G	CCDS699.1	.	.	.	.	.	.	.	.	.	.	T	2.807	-0.247800	0.05867	.	.	ENSG00000117155	ENST00000342203;ENST00000437941;ENST00000544699;ENST00000370612;ENST00000422026	T;T	0.45668	0.89;0.89	5.24	4.11	0.48088	.	0.169745	0.56097	N	0.000035	T	0.11067	0.0270	L	0.36672	1.1	0.25396	N	0.988486	B;B;B	0.17465	0.022;0.0;0.0	B;B;B	0.16289	0.015;0.004;0.004	T	0.20009	-1.0288	10	0.26408	T	0.33	-9.756	3.5949	0.08002	0.2659:0.1635:0.0:0.5706	.	92;96;69	F5H549;Q9Y2D8;B4DFE3	.;ADIP_HUMAN;.	V	96;69;92;96;96	ENSP00000340279:I96V;ENSP00000412781:I69V	ENSP00000340279:I96V	I	-	1	0	SSX2IP	84908092	0.989000	0.36119	1.000000	0.80357	0.914000	0.54420	0.120000	0.15647	0.839000	0.34971	-0.256000	0.11100	ATA		0.368	SSX2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027469.1	NM_014021		67	107	0	0	0	0	67	107				
SH3GLB1	51100	broad.mit.edu	37	1	87188228	87188228	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:87188228G>A	ENST00000370558.4	+	4	673	c.349G>A	c.(349-351)Gcc>Acc	p.A117T	SH3GLB1_ENST00000482504.1_Missense_Mutation_p.A117T|SH3GLB1_ENST00000535010.1_Missense_Mutation_p.A17T	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	117	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				'de novo' posttranslational protein folding (GO:0051084)|apoptotic process (GO:0006915)|phosphatidic acid biosynthetic process (GO:0006654)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|protein complex (GO:0043234)	fatty acid binding (GO:0005504)|identical protein binding (GO:0042802)|lysophosphatidic acid acyltransferase activity (GO:0042171)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		TGCAGGTAATGCCCTTATTAA	0.308																																						uc001dlw.2		NA																	0					0						c.(349-351)GCC>ACC		SH3-containing protein SH3GLB1							83.0	99.0	94.0					1																	87188228		2202	4299	6501	SO:0001583	missense	51100				anti-apoptosis|filopodium assembly|signal transduction	Golgi membrane|mitochondrial outer membrane	cytoskeletal adaptor activity|protein homodimerization activity|SH3 domain binding	g.chr1:87188228G>A	AF263293	CCDS710.1, CCDS55612.1, CCDS55613.1, CCDS72819.1	1p22.3	2012-04-17	2001-12-04		ENSG00000097033	ENSG00000097033		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	10833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 70"""	609287	"""SH3-domain, GRB2-like, endophilin B1"""			11161816, 11259440	Standard	NM_016009		Approved	CGI-61, KIAA0491, Bif-1, PPP1R70	uc001dly.3	Q9Y371	OTTHUMG00000010257	ENST00000370558.4:c.349G>A	1.37:g.87188228G>A	ENSP00000473267:p.Ala117Thr					SH3GLB1_uc001dlx.2_Missense_Mutation_p.A117T|SH3GLB1_uc001dly.2_Missense_Mutation_p.A117T|SH3GLB1_uc001dlz.2_Missense_Mutation_p.A17T	p.A117T	NM_016009	NP_057093	Q9Y371	SHLB1_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0414)	4	675	+		Lung NSC(277;0.209)	117			BAR.		B4E182|Q5H8U5|Q9H3Z0|Q9NR47|Q9NYA9	Missense_Mutation	SNP	ENST00000370558.4	37	c.349G>A	CCDS710.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.762167	0.69763	.	.	ENSG00000097033	ENST00000212369;ENST00000535010;ENST00000482504	T;T	0.35789	1.29;1.29	5.73	5.73	0.89815	BAR (3);IRSp53/MIM homology domain (IMD) (1);	0.000000	0.85682	D	0.000000	T	0.27027	0.0662	N	0.10916	0.065	0.80722	D	1	D;D;B	0.54964	0.969;0.969;0.136	P;P;B	0.56278	0.795;0.757;0.173	T	0.09997	-1.0649	10	0.33141	T	0.24	0.0912	19.8983	0.96975	0.0:0.0:1.0:0.0	.	17;117;117	B4E182;Q9Y371-2;Q9Y371	.;.;SHLB1_HUMAN	T	117;17;117	ENSP00000441355:A17T;ENSP00000418744:A117T	ENSP00000212369:A117T	A	+	1	0	SH3GLB1	86960816	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	9.706000	0.98722	2.718000	0.92993	0.650000	0.86243	GCC		0.308	SH3GLB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028287.2	NM_016009		32	189	0	0	0	0	32	189				
CDC14A	8556	broad.mit.edu	37	1	100964649	100964649	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:100964649C>T	ENST00000336454.3	+	15	1941	c.1586C>T	c.(1585-1587)cCt>cTt	p.P529L	CDC14A_ENST00000544534.1_Missense_Mutation_p.P529L|CDC14A_ENST00000361544.6_Missense_Mutation_p.P529L|CDC14A_ENST00000542213.1_Missense_Mutation_p.P471L|CDC14A_ENST00000370125.2_3'UTR	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	529					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		AGAAATTACCCTGAGCTCAAC	0.547																																						uc001dtg.3		NA																	0				large_intestine(1)	1						c.(1585-1587)CCT>CTT		CDC14 homolog A isoform 1							79.0	79.0	79.0					1																	100964649		2203	4300	6503	SO:0001583	missense	8556				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr1:100964649C>T	AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1718	protein-coding gene	gene with protein product		603504	"""CDC10 (cell division cycle 10, S. cerevisiae, homolog)"", ""CDC14 cell division cycle 14 homolog A (S. cerevisiae)"""			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.1586C>T	1.37:g.100964649C>T	ENSP00000336739:p.Pro529Leu					CDC14A_uc010oui.1_Missense_Mutation_p.P471L|CDC14A_uc001dtf.2_Missense_Mutation_p.P529L|CDC14A_uc009wed.1_Missense_Mutation_p.P236L|CDC14A_uc009wee.2_Missense_Mutation_p.P529L	p.P529L	NM_003672	NP_003663	Q9UNH5	CC14A_HUMAN		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)	15	2074	+		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)	529					A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Missense_Mutation	SNP	ENST00000336454.3	37	c.1586C>T	CCDS769.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.064168	0.55432	.	.	ENSG00000079335	ENST00000542213;ENST00000361544;ENST00000336454;ENST00000544534	T;T;T;T	0.09538	2.97;2.97;3.14;2.97	5.66	4.64	0.57946	.	0.337351	0.33670	N	0.004679	T	0.06325	0.0163	N	0.24115	0.695	0.53005	D	0.999968	P;P;P;P	0.51240	0.943;0.651;0.501;0.634	P;B;B;P	0.51453	0.67;0.273;0.261;0.447	T	0.06643	-1.0815	10	0.56958	D	0.05	-11.4125	8.244	0.31677	0.2741:0.6074:0.1185:0.0	.	471;529;529;529	F5H7B3;A6MA65;Q9UNH5;Q9UNH5-2	.;.;CC14A_HUMAN;.	L	471;529;529;529	ENSP00000442640:P471L;ENSP00000354916:P529L;ENSP00000336739:P529L;ENSP00000442543:P529L	ENSP00000336739:P529L	P	+	2	0	CDC14A	100737237	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	1.928000	0.40104	2.832000	0.97577	0.655000	0.94253	CCT		0.547	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	NM_033312		33	52	0	0	0	0	33	52				
CTTNBP2NL	55917	broad.mit.edu	37	1	112999521	112999521	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:112999521A>T	ENST00000271277.6	+	6	1632	c.1407A>T	c.(1405-1407)caA>caT	p.Q469H	CTTNBP2NL_ENST00000607039.1_3'UTR	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	469					negative regulation of transmembrane transport (GO:0034763)|negative regulation of transporter activity (GO:0032410)|protein dephosphorylation (GO:0006470)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCAGTCCCAAGCAGATCAGG	0.552																																						uc001ebx.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(1405-1407)CAA>CAT		CTTNBP2 N-terminal like							102.0	110.0	107.0					1																	112999521		2203	4300	6503	SO:0001583	missense	55917					actin cytoskeleton	protein binding	g.chr1:112999521A>T	AB037854	CCDS845.1	1p13.2	2008-02-05			ENSG00000143079	ENSG00000143079			25330	protein-coding gene	gene with protein product		615100				10718198	Standard	NM_018704		Approved	DKFZp547A023	uc001ebx.3	Q9P2B4	OTTHUMG00000011154	ENST00000271277.6:c.1407A>T	1.37:g.112999521A>T	ENSP00000271277:p.Gln469His					CTTNBP2NL_uc001ebz.2_RNA	p.Q469H	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	1635	+		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)	469					B3KMS5|Q96B40	Missense_Mutation	SNP	ENST00000271277.6	37	c.1407A>T	CCDS845.1	.	.	.	.	.	.	.	.	.	.	A	16.14	3.038124	0.54896	.	.	ENSG00000143079	ENST00000271277	T	0.25414	1.8	5.32	-3.83	0.04269	.	0.186931	0.48767	D	0.000167	T	0.28101	0.0693	L	0.54323	1.7	0.45272	D	0.998276	D	0.64830	0.994	D	0.73380	0.98	T	0.27054	-1.0085	10	0.62326	D	0.03	-15.3949	13.6944	0.62569	0.4386:0.0:0.5614:0.0	.	469	Q9P2B4	CT2NL_HUMAN	H	469	ENSP00000271277:Q469H	ENSP00000271277:Q469H	Q	+	3	2	CTTNBP2NL	112801044	0.003000	0.15002	0.984000	0.44739	0.981000	0.71138	-0.825000	0.04433	-0.674000	0.05253	0.379000	0.24179	CAA		0.552	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030686.1	NM_018704		32	123	0	0	0	0	32	123				
CASQ2	845	broad.mit.edu	37	1	116280898	116280899	+	Missense_Mutation	DNP	CG	CG	GA	rs372283956		TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:116280898_116280899CG>GA	ENST00000261448.5	-	4	717_718	c.478_479CG>TC	c.(478-480)CGc>TCc	p.R160S	CASQ2_ENST00000456138.2_Intron	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	160					cardiac muscle contraction (GO:0060048)|cellular response to caffeine (GO:0071313)|detection of calcium ion (GO:0005513)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|protein polymerization (GO:0051258)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of heart rate (GO:0002027)|regulation of membrane repolarization (GO:0060306)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|sequestering of calcium ion (GO:0051208)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|junctional sarcoplasmic reticulum membrane (GO:0014701)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)	p.R160L(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GTCTTCAATGCGTTCGAAGGCT	0.446																																						uc001efx.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(478-480)CGC>TCC		cardiac calsequestrin 2 precursor																																				SO:0001583	missense	845				heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr1:116280898_116280899CG>GA	BC022288	CCDS884.1	1p13.1	2014-09-17			ENSG00000118729	ENSG00000118729		"""Protein disulfide isomerases"""	1513	protein-coding gene	gene with protein product		114251				8406504	Standard	NM_001232		Approved	PDIB2	uc001efx.4	O14958	OTTHUMG00000011970	ENST00000261448.5:c.478_479delinsGA	1.37:g.116280898_116280899delinsGA	ENSP00000261448:p.Arg160Ser					CASQ2_uc010owu.1_Intron	p.R160S	NM_001232	NP_001223	O14958	CASQ2_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	4	742_743	-	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)	160					B2R7M6|B4DIB0|Q5T1D2|Q8TBW8	Missense_Mutation	DNP	ENST00000261448.5	37	c.478_479CG>TC	CCDS884.1																																																																																				0.446	CASQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033091.1	NM_001232		105	211	0	0	0	0	105	211				
NBPF10	100132406	broad.mit.edu	37	1	145293541	145293541	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:145293541C>G	ENST00000369339.3	+	3	389	c.136C>G	c.(136-138)Caa>Gaa	p.Q46E	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000342960.5_Missense_Mutation_p.Q46E			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	317						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TTTTCTAACTCAACTGGCCGG	0.448																																						uc001end.3		NA																	0					0						c.(136-138)CAA>GAA		hypothetical protein LOC100132406																																				SO:0001583	missense	100132406							g.chr1:145293541C>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.136C>G	1.37:g.145293541C>G	ENSP00000358345:p.Gln46Glu					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Missense_Mutation_p.Q46E|NOTCH2NL_uc010oyh.1_RNA|NBPF10_uc001emq.1_Missense_Mutation_p.Q46E	p.Q46E	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	1	171	+	all_hematologic(923;0.032)		46					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37	c.136C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	36|36	5.832534|5.832534	0.97003|0.97003	.|.	.|.	ENSG00000163386|ENSG00000163386	ENST00000369339;ENST00000342960|ENST00000448873	T|.	0.02890|.	4.12|.	1.0|1.0	-0.106|-0.106	0.13596|0.13596	.|.	.|.	.|.	.|.	.|.	T|.	0.22781|.	0.0550|.	L|L	0.55103|0.55103	1.725|1.725	0.09310|0.09310	N|N	1|1	D|.	0.61080|.	0.989|.	P|.	0.55577|.	0.779|.	T|.	0.31696|.	-0.9934|.	9|.	0.12103|0.87932	T|D	0.63|0	.|.	4.9084|4.9084	0.13809|0.13809	0.0:0.6099:0.3901:0.0|0.0:0.6099:0.3901:0.0	.|.	46|.	A8MQ30|.	.|.	E|X	46|5	ENSP00000345684:Q46E|.	ENSP00000345684:Q46E|ENSP00000414194:S5X	Q|S	+|+	1|2	0|0	NBPF10|NBPF10	144004898|144004898	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.009000|0.009000	0.06853|0.06853	-0.707000|-0.707000	0.05041|0.05041	-0.013000|-0.013000	0.14199|0.14199	0.121000|0.121000	0.15741|0.15741	CAA|TCA		0.448	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		20	541	0	0	0	0	20	541				
GON4L	54856	broad.mit.edu	37	1	155747430	155747430	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:155747430G>A	ENST00000368331.1	-	15	2122	c.2074C>T	c.(2074-2076)Cag>Tag	p.Q692*	GON4L_ENST00000437809.1_Nonsense_Mutation_p.Q692*|GON4L_ENST00000271883.5_Nonsense_Mutation_p.Q692*|GON4L_ENST00000361040.5_Nonsense_Mutation_p.Q692*|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	692					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					ATCTGCTGCTGGAGTCTCTTC	0.473																																						uc001flz.2		NA																	0				ovary(3)	3						c.(2074-2076)CAG>TAG		gon-4-like isoform a							162.0	147.0	152.0					1																	155747430		2203	4300	6503	SO:0001587	stop_gained	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155747430G>A	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.2074C>T	1.37:g.155747430G>A	ENSP00000357315:p.Gln692*					GON4L_uc001fly.1_Nonsense_Mutation_p.Q692*|GON4L_uc009wrh.1_Nonsense_Mutation_p.Q692*|GON4L_uc001fma.1_Nonsense_Mutation_p.Q692*|GON4L_uc001fmb.3_5'Flank|GON4L_uc001fmc.2_Nonsense_Mutation_p.Q692*|GON4L_uc001fmd.3_Nonsense_Mutation_p.Q692*|GON4L_uc009wri.2_Nonsense_Mutation_p.Q278*|GON4L_uc009wrj.1_Nonsense_Mutation_p.Q207*|GON4L_uc001fme.2_Nonsense_Mutation_p.Q520*	p.Q692*	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN			15	2171	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		692					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Nonsense_Mutation	SNP	ENST00000368331.1	37	c.2074C>T		.	.	.	.	.	.	.	.	.	.	G	38	7.177414	0.98114	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040;ENST00000368327	.	.	.	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	17.7716	0.88494	0.0:0.0:1.0:0.0	.	.	.	.	X	692;692;692;692;692;171	.	ENSP00000271883:Q692X	Q	-	1	0	GON4L	154014054	1.000000	0.71417	0.971000	0.41717	0.935000	0.57460	5.890000	0.69774	2.524000	0.85096	0.586000	0.80456	CAG		0.473	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		91	165	0	0	0	0	91	165				
OR10R2	343406	broad.mit.edu	37	1	158449897	158449897	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:158449897C>A	ENST00000368152.1	+	1	230	c.230C>A	c.(229-231)aCa>aAa	p.T77K	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					AGCCTCCACACACCAATGTAC	0.433																																						uc010pik.1		NA																	0				pancreas(2)|skin(1)	3						c.(229-231)ACA>AAA		olfactory receptor, family 10, subfamily R,							256.0	220.0	232.0					1																	158449897		2203	4300	6503	SO:0001583	missense	343406				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158449897C>A	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"""GPCR / Class A : Olfactory receptors"""	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.230C>A	1.37:g.158449897C>A	ENSP00000357134:p.Thr77Lys					uc001fso.1_RNA	p.T77K	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN			1	230	+	all_hematologic(112;0.0378)		77			Helical; Name=2; (Potential).		Q5VWM8|Q6IFS1|Q96R61	Missense_Mutation	SNP	ENST00000368152.1	37	c.230C>A	CCDS30898.1	.	.	.	.	.	.	.	.	.	.	c	15.39	2.819452	0.50633	.	.	ENSG00000198965	ENST00000368152	T	0.00478	7.13	4.28	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00552	0.0018	M	0.82433	2.59	0.24664	N	0.993457	D	0.56287	0.975	P	0.60345	0.873	T	0.43261	-0.9402	9	0.62326	D	0.03	.	10.9355	0.47243	0.0:0.9061:0.0:0.0939	.	77	Q8NGX6	O10R2_HUMAN	K	77	ENSP00000357134:T77K	ENSP00000357134:T77K	T	+	2	0	OR10R2	156716521	0.000000	0.05858	1.000000	0.80357	0.925000	0.55904	0.184000	0.16939	0.984000	0.38629	0.655000	0.94253	ACA		0.433	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472		189	345	1	0	1.41e-80	1.9e-80	189	345				
OR10Z1	128368	broad.mit.edu	37	1	158576337	158576337	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:158576337G>C	ENST00000361284.1	+	1	109	c.109G>C	c.(109-111)Gtc>Ctc	p.V37L		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V37I(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TCTGTATCTAGTCACTCTGAC	0.498																																						uc010pio.1		NA																	1	Substitution - Missense(1)	p.V37I(1)	pancreas(1)	pancreas(1)|skin(1)	2						c.(109-111)GTC>CTC		olfactory receptor, family 10, subfamily Z,							214.0	204.0	207.0					1																	158576337		2203	4300	6503	SO:0001583	missense	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158576337G>C	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.109G>C	1.37:g.158576337G>C	ENSP00000354707:p.Val37Leu						p.V37L	NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN			1	109	+	all_hematologic(112;0.0378)		37			Helical; Name=1; (Potential).		Q5VYL0|Q6IFR7	Missense_Mutation	SNP	ENST00000361284.1	37	c.109G>C	CCDS30901.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.728056	0.00694	.	.	ENSG00000198967	ENST00000361284	T	0.00587	6.38	5.25	-9.23	0.00672	.	0.619618	0.13268	N	0.400702	T	0.00073	0.0002	N	0.02420	-0.555	0.09310	N	0.999996	B	0.02656	0.0	B	0.08055	0.003	T	0.36625	-0.9740	10	0.11182	T	0.66	.	11.7296	0.51728	0.7136:0.0:0.118:0.1684	.	37	Q8NGY1	O10Z1_HUMAN	L	37	ENSP00000354707:V37L	ENSP00000354707:V37L	V	+	1	0	OR10Z1	156842961	0.000000	0.05858	0.000000	0.03702	0.521000	0.34408	-2.675000	0.00841	-2.083000	0.00867	-0.812000	0.03155	GTC		0.498	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		123	315	0	0	0	0	123	315				
FCRLA	84824	broad.mit.edu	37	1	161681106	161681106	+	Missense_Mutation	SNP	G	G	A	rs145034072		TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:161681106G>A	ENST00000236938.6	+	3	634	c.392G>A	c.(391-393)cGa>cAa	p.R131Q	FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000546024.1_Intron|FCRLA_ENST00000367953.3_Missense_Mutation_p.R120Q|FCRLA_ENST00000540926.1_Missense_Mutation_p.R120Q|FCRLA_ENST00000349527.4_Missense_Mutation_p.R114Q|FCRLA_ENST00000309691.6_Intron|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000367959.2_Missense_Mutation_p.R137Q|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000470841.1_3'UTR	NM_032738.3	NP_116127.3	Q7L513	FCRLA_HUMAN	Fc receptor-like A	114	Ig-like C2-type 1.				cell differentiation (GO:0030154)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			ACCTTCTACCGAGATGGCTCA	0.592																																						uc001gbe.2		NA																	0					0						c.(409-411)CGA>CAA		Fc receptor-like and mucin-like 1		G	GLN/ARG,,,,,,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	51.0	53.0	52.0		410,,,,,,392	4.1	1.0	1	dbSNP_134	52	0,8600		0,0,4300	no	missense,intron,intron,intron,intron,intron,missense	FCRLA	NM_001184866.1,NM_001184867.1,NM_001184870.1,NM_001184871.1,NM_001184872.1,NM_001184873.1,NM_032738.3	43,,,,,,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,,,,,,probably-damaging	137/383,,,,,,131/377	161681106	1,13005	2203	4300	6503	SO:0001583	missense	84824				cell differentiation	cytoplasm|extracellular region		g.chr1:161681106G>A	AF531423	CCDS30926.1, CCDS53415.1, CCDS53416.1, CCDS53417.1, CCDS53418.1, CCDS53419.1, CCDS53420.1	1q23.3	2014-01-28	2006-09-26	2006-09-26	ENSG00000132185	ENSG00000132185		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18504	protein-coding gene	gene with protein product		606891	"""Fc receptor-like and mucin-like 1"""	FCRLM1		11754007	Standard	NM_001184866		Approved	MGC4595, FCRLc2, FCRLb, FCRLc1, FCRLd, FCRLe, FCRL, FCRLa, FREB, FCRLX	uc001gbe.3	Q7L513	OTTHUMG00000034537	ENST00000236938.6:c.392G>A	1.37:g.161681106G>A	ENSP00000236938:p.Arg131Gln					FCRLA_uc001gbd.2_Missense_Mutation_p.R131Q|FCRLA_uc001gbf.2_Intron|FCRLA_uc001gbg.2_Intron|FCRLA_uc009wuo.2_Intron|FCRLA_uc009wup.2_Intron|FCRLA_uc009wuq.2_Intron	p.R137Q	NM_032738	NP_116127	Q7L513	FCRLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00301)		4	652	+	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		114			Ig-like C2-type 1.		A0N0M1|A6NC03|A6NL20|F5H720|F8W743|G3V1J2|Q5VXA1|Q5VXA2|Q5VXA3|Q5VXA4|Q5VXB0|Q5VXB1|Q8NEW4|Q8WXH3|Q96PC6|Q96PJ0|Q96PJ1|Q96PJ2|Q96PJ4|Q9BR57	Missense_Mutation	SNP	ENST00000236938.6	37	c.410G>A	CCDS30926.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.493199	0.64186	2.27E-4	0.0	ENSG00000132185	ENST00000236938;ENST00000367959;ENST00000540926;ENST00000349527;ENST00000367953	T;T;T;T;T	0.12879	2.64;2.64;2.64;2.64;2.64	4.99	4.07	0.47477	.	0.206931	0.24608	N	0.037079	T	0.04998	0.0134	L	0.33245	0.995	0.35491	D	0.798972	P;P	0.49635	0.884;0.926	B;P	0.45310	0.298;0.476	T	0.39542	-0.9609	10	0.19147	T	0.46	.	9.5368	0.39226	0.0959:0.0:0.9041:0.0	.	137;131	A6NC03;Q7L513-9	.;.	Q	131;137;120;114;120	ENSP00000236938:R131Q;ENSP00000356936:R137Q;ENSP00000446380:R120Q;ENSP00000294798:R114Q;ENSP00000356930:R120Q	ENSP00000236938:R131Q	R	+	2	0	FCRLA	159947730	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.977000	0.29475	1.300000	0.44818	0.655000	0.94253	CGA		0.592	FCRLA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083574.1	NM_032738		38	75	0	0	0	0	38	75				
PAPPA2	60676	broad.mit.edu	37	1	176668369	176668369	+	Silent	SNP	G	G	T	rs372973714		TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:176668369G>T	ENST00000367662.3	+	8	4044	c.2880G>T	c.(2878-2880)ccG>ccT	p.P960P		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	960					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCCAACACCCGGTCCAAGCCG	0.572																																						uc001gkz.2		NA																	0				ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(2878-2880)CCG>CCT		pappalysin 2 isoform 1							123.0	125.0	125.0					1																	176668369		2031	4180	6211	SO:0001819	synonymous_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176668369G>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2880G>T	1.37:g.176668369G>T						PAPPA2_uc009www.2_RNA	p.P960P	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			8	4044	+			960					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	c.2880G>T	CCDS41438.1																																																																																				0.572	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			91	281	1	0	1.19e-48	1.57e-48	91	281				
BRINP2	57795	broad.mit.edu	37	1	177249786	177249786	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:177249786C>G	ENST00000361539.4	+	8	1786	c.1474C>G	c.(1474-1476)Cgg>Ggg	p.R492G	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	492					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											GGGGCTGTGCCGGCCAGAGGT	0.622																																						uc001glf.2		NA																	0				skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(1474-1476)CGG>GGG		family with sequence similarity 5, member B							28.0	30.0	30.0					1																	177249786		2203	4300	6503	SO:0001583	missense	57795					extracellular region		g.chr1:177249786C>G		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1474C>G	1.37:g.177249786C>G	ENSP00000354481:p.Arg492Gly					FAM5B_uc001glg.2_Missense_Mutation_p.R387G	p.R492G	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN			8	1786	+			492					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.1474C>G	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.022163	0.35701	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.41758	0.99	5.31	4.38	0.52667	Epidermal growth factor-like (1);	0.065545	0.64402	D	0.000012	T	0.57621	0.2066	M	0.65498	2.005	0.47276	D	0.99937	D;P	0.54207	0.965;0.649	P;B	0.59424	0.857;0.253	T	0.61724	-0.7004	10	0.87932	D	0	-24.9372	12.5712	0.56339	0.3025:0.6975:0.0:0.0	.	387;492	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	G	245;492	ENSP00000354481:R492G	ENSP00000354481:R492G	R	+	1	2	FAM5B	175516409	0.997000	0.39634	1.000000	0.80357	0.692000	0.40212	0.474000	0.22148	1.188000	0.43014	0.313000	0.20887	CGG		0.622	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		40	50	0	0	0	0	40	50				
CFHR2	3080	broad.mit.edu	37	1	196928027	196928027	+	Silent	SNP	A	A	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:196928027A>G	ENST00000367415.5	+	5	730	c.630A>G	c.(628-630)tcA>tcG	p.S210S	CFHR2_ENST00000476712.2_Silent_p.S194S|CFHR2_ENST00000367421.3_Silent_p.S210S|CFHR2_ENST00000496448.1_3'UTR	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	210	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						GTGTAATATCACAAGAAATTA	0.274																																						uc001gtq.1		NA																	0				skin(2)|ovary(1)	3						c.(628-630)TCA>TCG		H factor (complement)-like 3 precursor							33.0	34.0	34.0					1																	196928027		2176	4274	6450	SO:0001819	synonymous_variant	3080					extracellular region		g.chr1:196928027A>G	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367415.5:c.630A>G	1.37:g.196928027A>G						CFHR2_uc001gtr.1_Silent_p.S86S	p.S210S	NM_005666	NP_005657	P36980	FHR2_HUMAN			5	707	+			210			Sushi 4.		Q14310|Q5T9T1	Silent	SNP	ENST00000367415.5	37	c.630A>G	CCDS30959.1																																																																																				0.274	CFHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088815.2	NM_005666		41	75	0	0	0	0	41	75				
JMJD4	65094	broad.mit.edu	37	1	227921284	227921284	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:227921284G>A	ENST00000366758.3	-	4	790	c.791C>T	c.(790-792)gCc>gTc	p.A264V	SNAP47_ENST00000480897.1_3'UTR|SNAP47_ENST00000315781.5_5'Flank|JMJD4_ENST00000485807.1_5'UTR|JMJD4_ENST00000438896.2_Missense_Mutation_p.A264V|SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000366759.4_5'Flank	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	264	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				GTCCCGCAGGGCCTCTTCCTG	0.637																																						uc001hrb.2		NA																	0					0						c.(790-792)GCC>GTC		jumonji domain containing 4 isoform 1							53.0	49.0	50.0					1																	227921284		2203	4300	6503	SO:0001583	missense	65094							g.chr1:227921284G>A	AK022579	CCDS1561.1, CCDS59203.1	1q42.13	2008-02-05			ENSG00000081692	ENSG00000081692			25724	protein-coding gene	gene with protein product						12477932	Standard	NM_023007		Approved	FLJ12517	uc001hrb.3	Q9H9V9	OTTHUMG00000037698	ENST00000366758.3:c.791C>T	1.37:g.227921284G>A	ENSP00000355720:p.Ala264Val					SNAP47_uc001hqz.2_Intron|SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.2_5'Flank|SNAP47_uc001hre.2_5'Flank|SNAP47_uc001hrf.2_5'Flank|LOC100130093_uc001hqx.3_RNA|LOC100130093_uc001hqy.3_RNA|JMJD4_uc001hrc.2_Missense_Mutation_p.A264V	p.A264V	NM_023007	NP_075383	Q9H9V9	JMJD4_HUMAN			4	791	-		Prostate(94;0.0885)	264			JmjC.		Q5TBZ1|Q5TBZ6|Q9H970	Missense_Mutation	SNP	ENST00000366758.3	37	c.791C>T	CCDS1561.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	10.22|10.22	1.290186|1.290186	0.23478|0.23478	.|.	.|.	ENSG00000081692|ENSG00000081692	ENST00000366758|ENST00000438896	T|.	0.22134|.	1.97|.	4.5|4.5	3.51|3.51	0.40186|0.40186	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);|.	0.452591|.	0.25774|.	N|.	0.028389|.	T|T	0.37376|0.37376	0.1001|0.1001	L|L	0.41415|0.41415	1.275|1.275	0.19775|0.19775	N|N	0.999955|0.999955	B;B|.	0.20368|.	0.007;0.044|.	B;B|.	0.23275|.	0.026;0.045|.	T|T	0.15809|0.15809	-1.0424|-1.0424	10|5	0.15066|.	T|.	0.55|.	-39.1891|-39.1891	7.2457|7.2457	0.26121|0.26121	0.0:0.183:0.6279:0.1892|0.0:0.183:0.6279:0.1892	.|.	264;264|.	Q9H9V9-2;Q9H9V9|.	.;JMJD4_HUMAN|.	V|S	264|257	ENSP00000355720:A264V|.	ENSP00000355720:A264V|.	A|P	-|-	2|1	0|0	JMJD4|JMJD4	225987907|225987907	0.585000|0.585000	0.26774|0.26774	1.000000|1.000000	0.80357|0.80357	0.859000|0.859000	0.49053|0.49053	0.828000|0.828000	0.27435|0.27435	2.490000|2.490000	0.84030|0.84030	0.655000|0.655000	0.94253|0.94253	GCC|CCC		0.637	JMJD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091970.1	NM_023007		4	30	0	0	0	0	4	30				
TRIM67	440730	broad.mit.edu	37	1	231349664	231349664	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:231349664G>A	ENST00000366653.5	+	9	2227	c.2227G>A	c.(2227-2229)Gcc>Acc	p.A743T	TRIM67_ENST00000449018.3_Missense_Mutation_p.A681T|TRIM67_ENST00000444294.3_Missense_Mutation_p.A741T|TRIM67_ENST00000366652.2_Missense_Mutation_p.A743T			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	743	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GGGCCCCACAGCCTTCAGCCA	0.652																																						uc009xfn.1		NA																	0				ovary(2)|breast(1)|kidney(1)	4						c.(2227-2229)GCC>ACC		tripartite motif-containing 67							54.0	63.0	60.0					1																	231349664		2135	4235	6370	SO:0001583	missense	440730					cytoplasm|cytoskeleton	zinc ion binding	g.chr1:231349664G>A	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.2227G>A	1.37:g.231349664G>A	ENSP00000355613:p.Ala743Thr						p.A743T	NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN			9	2269	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	743			B30.2/SPRY.		Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	ENST00000366653.5	37	c.2227G>A	CCDS44333.1	.	.	.	.	.	.	.	.	.	.	G	35	5.433530	0.96150	.	.	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	T;T;T;T	0.78003	-0.76;-1.14;-0.76;-0.76	5.42	5.42	0.78866	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.062579	0.64402	D	0.000008	T	0.80592	0.4652	L	0.55990	1.75	0.80722	D	1	P	0.49696	0.927	P	0.54706	0.759	T	0.74645	-0.3596	10	0.02654	T	1	.	19.6098	0.95600	0.0:0.0:1.0:0.0	.	743	Q6ZTA4	TRI67_HUMAN	T	741;743;681;743	ENSP00000412124:A741T;ENSP00000355612:A743T;ENSP00000400163:A681T;ENSP00000355613:A743T	ENSP00000355612:A743T	A	+	1	0	TRIM67	229416287	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.533000	0.81994	2.714000	0.92807	0.561000	0.74099	GCC		0.652	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		30	42	0	0	0	0	30	42				
OR2T1	26696	broad.mit.edu	37	1	248570029	248570029	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:248570029A>G	ENST00000366474.1	+	1	734	c.734A>G	c.(733-735)tAc>tGc	p.Y245C		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	245						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(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACAGCCCTCTACGAGACAGTG	0.493																																						uc010pzm.1		NA																	0				pancreas(1)	1						c.(733-735)TAC>TGC		olfactory receptor, family 2, subfamily T,							213.0	185.0	194.0					1																	248570029		2203	4300	6503	SO:0001583	missense	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248570029A>G	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.734A>G	1.37:g.248570029A>G	ENSP00000355430:p.Tyr245Cys						p.Y245C	NM_030904	NP_112166	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	734	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		245			Extracellular (Potential).		Q6IEZ9	Missense_Mutation	SNP	ENST00000366474.1	37	c.734A>G	CCDS31115.1	.	.	.	.	.	.	.	.	.	.	a	10.53	1.376599	0.24857	.	.	ENSG00000175143	ENST00000366474	T	0.00123	8.7	4.75	4.75	0.60458	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33534	U	0.004807	T	0.00328	0.0010	M	0.71206	2.165	0.09310	N	1	P	0.50943	0.94	P	0.53266	0.722	T	0.50389	-0.8834	10	0.72032	D	0.01	.	13.3845	0.60789	1.0:0.0:0.0:0.0	.	245	O43869	OR2T1_HUMAN	C	245	ENSP00000355430:Y245C	ENSP00000355430:Y245C	Y	+	2	0	OR2T1	246636652	0.001000	0.12720	0.022000	0.16811	0.269000	0.26545	0.958000	0.29227	1.993000	0.58246	0.528000	0.53228	TAC		0.493	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2			78	86	0	0	0	0	78	86				
ZWINT	11130	broad.mit.edu	37	10	58120976	58120976	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr10:58120976C>T	ENST00000373944.3	-	1	60	c.22G>A	c.(22-24)Gcg>Acg	p.A8T	ZWINT_ENST00000395405.1_Missense_Mutation_p.A8T|ZWINT_ENST00000460654.1_5'Flank|ZWINT_ENST00000318387.2_5'Flank|ZWINT_ENST00000361148.6_Missense_Mutation_p.A8T			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	8					establishment of localization in cell (GO:0051649)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|kinetochore (GO:0000776)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						GCAGCTTCCGCCTCTGTCTCC	0.597																																						uc001jjx.1		NA																	0					0						c.(22-24)GCG>ACG		ZW10 interactor isoform a							38.0	36.0	36.0					10																	58120976		2203	4300	6503	SO:0001583	missense	11130				cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding	g.chr10:58120976C>T	AF067656	CCDS7249.1, CCDS31205.1	10q21-q22	2013-05-01	2013-05-01		ENSG00000122952	ENSG00000122952			13195	protein-coding gene	gene with protein product		609177	"""ZW10 interactor"""				Standard	XM_005269463		Approved	KNTC2AP	uc001jka.1	O95229	OTTHUMG00000018261	ENST00000373944.3:c.22G>A	10.37:g.58120976C>T	ENSP00000363055:p.Ala8Thr					ZWINT_uc001jjy.1_Missense_Mutation_p.A8T|ZWINT_uc001jka.1_Missense_Mutation_p.A8T|ZWINT_uc009xoy.1_RNA	p.A8T	NM_007057	NP_008988	O95229	ZWINT_HUMAN			1	59	-			8					A6NNV6|Q0D2I3|Q9BWD0	Missense_Mutation	SNP	ENST00000373944.3	37	c.22G>A	CCDS7249.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.894290	0.33442	.	.	ENSG00000122952	ENST00000373944;ENST00000395405;ENST00000373940;ENST00000361148	T;T;T	0.36699	1.24;1.24;1.28	4.03	-2.03	0.07365	.	1.769450	0.02922	N	0.138044	T	0.22085	0.0532	N	0.22421	0.69	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.12837	0.008;0.008	T	0.09143	-1.0688	10	0.25751	T	0.34	1.1873	3.2767	0.06901	0.2401:0.3477:0.0:0.4122	.	8;8	A6NNV6;O95229	.;ZWINT_HUMAN	T	8	ENSP00000363055:A8T;ENSP00000378801:A8T;ENSP00000354921:A8T	ENSP00000354921:A8T	A	-	1	0	ZWINT	57790982	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.916000	0.04029	-0.383000	0.07858	-0.140000	0.14226	GCG		0.597	ZWINT-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048132.1			10	13	0	0	0	0	10	13				
ENTPD1	953	broad.mit.edu	37	10	97583051	97583051	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr10:97583051C>A	ENST00000371205.4	+	2	357	c.74C>A	c.(73-75)tCt>tAt	p.S25Y	ENTPD1_ENST00000371203.5_5'UTR|ENTPD1_ENST00000539125.1_5'UTR|ENTPD1_ENST00000543964.1_Intron|ENTPD1_ENST00000490659.1_3'UTR|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000453258.2_Missense_Mutation_p.S32Y|ENTPD1_ENST00000371207.3_Missense_Mutation_p.S37Y			P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	25					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		GGCTTCTCCTCTATCATAGCT	0.393																																						uc001klh.3		NA																	0				ovary(3)	3						c.(73-75)TCT>TAT		ectonucleoside triphosphate diphosphohydrolase 1							148.0	136.0	140.0					10																	97583051		2203	4300	6503	SO:0001583	missense	953				cell adhesion	integral to plasma membrane	ATP binding	g.chr10:97583051C>A	S73813	CCDS7444.1, CCDS53556.1, CCDS53557.1, CCDS53558.1, CCDS41554.1	10q24.1	2014-03-03			ENSG00000138185	ENSG00000138185		"""CD molecules"""	3363	protein-coding gene	gene with protein product		601752		CD39		9226376, 24482476	Standard	NM_001098175		Approved	NTPDase-1, ATPDase, SPG64	uc010qoj.2	P49961	OTTHUMG00000018818	ENST00000371205.4:c.74C>A	10.37:g.97583051C>A	ENSP00000360248:p.Ser25Tyr					ENTPD1_uc001kle.1_Missense_Mutation_p.S32Y|ENTPD1_uc001kli.3_Missense_Mutation_p.S32Y|uc001klg.1_Intron|ENTPD1_uc010qoj.1_Missense_Mutation_p.S37Y|ENTPD1_uc010qok.1_Intron|ENTPD1_uc010qol.1_Intron|ENTPD1_uc010qom.1_Missense_Mutation_p.S25Y|ENTPD1_uc010qon.1_5'UTR|ENTPD1_uc009xva.2_5'UTR|ENTPD1_uc009xuz.2_RNA	p.S25Y	NM_001776	NP_001767	P49961	ENTP1_HUMAN		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)	2	398	+		Colorectal(252;0.0821)	25			Helical; (Potential).		A9Z1X8|B4DWB9|B4E1X1|B7Z599|G3XAF6|Q5T561|Q5T562|Q86VV3|Q9UQQ9|Q9Y3Q9	Missense_Mutation	SNP	ENST00000371205.4	37	c.74C>A	CCDS7444.1	.	.	.	.	.	.	.	.	.	.	C	2.320	-0.355961	0.05138	.	.	ENSG00000138185	ENST00000453258;ENST00000371206;ENST00000371207;ENST00000371205	T;T;T	0.11169	2.8;2.8;2.8	5.15	-4.84	0.03151	.	23.337800	0.00166	N	0.000003	T	0.08268	0.0206	N	0.19112	0.55	0.43673	D	0.996107	P;P;P;P;B	0.46277	0.802;0.875;0.801;0.802;0.264	B;B;P;B;B	0.48425	0.231;0.407;0.577;0.231;0.196	T	0.56878	-0.7906	10	0.02654	T	1	-0.8563	7.099	0.25325	0.0:0.1849:0.5019:0.3132	.	37;37;32;25;32	B4DWB9;G3XAF6;P49961-2;P49961;P49961-3	.;.;.;ENTP1_HUMAN;.	Y	32;32;37;25	ENSP00000390955:S32Y;ENSP00000360250:S37Y;ENSP00000360248:S25Y	ENSP00000360248:S25Y	S	+	2	0	ENTPD1	97573041	0.000000	0.05858	0.003000	0.11579	0.975000	0.68041	-0.589000	0.05767	-1.230000	0.02561	0.563000	0.77884	TCT		0.393	ENTPD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049566.1	NM_001776		66	79	1	0	1.17e-29	1.5e-29	66	79				
OR56A1	120796	broad.mit.edu	37	11	6048184	6048184	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr11:6048184G>T	ENST00000316650.5	-	1	787	c.751C>A	c.(751-753)Cac>Aac	p.H251N		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGATGAAGTGGGAGCCACAT	0.493																																						uc010qzw.1		NA																	0				ovary(2)|breast(1)	3						c.(751-753)CAC>AAC		olfactory receptor, family 56, subfamily A,							68.0	66.0	67.0					11																	6048184		2201	4296	6497	SO:0001583	missense	120796				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6048184G>T	AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"""GPCR / Class A : Olfactory receptors"""	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.751C>A	11.37:g.6048184G>T	ENSP00000321246:p.His251Asn						p.H251N	NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	751	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	251			Helical; Name=6; (Potential).		B2RNI2|Q6IFL0	Missense_Mutation	SNP	ENST00000316650.5	37	c.751C>A	CCDS31405.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966865	0.74131	.	.	ENSG00000180934	ENST00000316650	T	0.00314	8.14	4.27	4.27	0.50696	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44688	D	0.000437	T	0.01029	0.0034	H	0.94886	3.595	0.38842	D	0.956098	D	0.62365	0.991	D	0.72075	0.976	T	0.54057	-0.8350	10	0.87932	D	0	.	15.7761	0.78220	0.0:0.0:1.0:0.0	.	251	Q8NGH5	O56A1_HUMAN	N	251	ENSP00000321246:H251N	ENSP00000321246:H251N	H	-	1	0	OR56A1	6004760	1.000000	0.71417	0.987000	0.45799	0.865000	0.49528	7.778000	0.85637	2.361000	0.80049	0.655000	0.94253	CAC		0.493	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917		34	35	1	0	3.04e-20	3.77e-20	34	35				
ABCC8	6833	broad.mit.edu	37	11	17434265	17434265	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr11:17434265T>A	ENST00000389817.3	-	21	2572	c.2504A>T	c.(2503-2505)cAg>cTg	p.Q835L	ABCC8_ENST00000302539.4_Missense_Mutation_p.Q836L			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	835	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	ACTGATTCGCTGGCGTTGACC	0.582																																						uc001mnc.2		NA																	0				ovary(1)	1						c.(2503-2505)CAG>CTG		ATP-binding cassette, sub-family C, member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						163.0	102.0	123.0					11																	17434265		2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17434265T>A	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.2504A>T	11.37:g.17434265T>A	ENSP00000374467:p.Gln835Leu						p.Q835L	NM_000352	NP_000343	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	21	2630	-			835			ABC transporter 1.|Cytoplasmic (By similarity).		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.2504A>T	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	T	32	5.172887	0.94807	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.93811	-3.29;-3.29	5.82	5.82	0.92795	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.95887	0.8661	M	0.90019	3.08	0.80722	D	1	B	0.33238	0.403	B	0.43225	0.412	D	0.95938	0.8944	10	0.87932	D	0	.	16.1822	0.81915	0.0:0.0:0.0:1.0	.	835	Q09428	ABCC8_HUMAN	L	835;836;839	ENSP00000374467:Q835L;ENSP00000303960:Q836L	ENSP00000303960:Q836L	Q	-	2	0	ABCC8	17390841	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.983000	0.88140	2.225000	0.72522	0.460000	0.39030	CAG		0.582	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		6	12	0	0	0	0	6	12				
LRRC4C	57689	broad.mit.edu	37	11	40137138	40137138	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr11:40137138C>A	ENST00000278198.2	-	2	2668	c.705G>T	c.(703-705)agG>agT	p.R235S	LRRC4C_ENST00000530763.1_Missense_Mutation_p.R235S|LRRC4C_ENST00000527150.1_Missense_Mutation_p.R235S|LRRC4C_ENST00000528697.1_Missense_Mutation_p.R235S			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	235					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AAGAGCCAGGCCTGATGGCAG	0.463																																						uc001mxa.1		NA																	0				ovary(4)|skin(3)|central_nervous_system(1)	8						c.(703-705)AGG>AGT		netrin-G1 ligand precursor							81.0	79.0	80.0					11																	40137138		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137138C>A	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.705G>T	11.37:g.40137138C>A	ENSP00000278198:p.Arg235Ser					LRRC4C_uc001mxc.1_Missense_Mutation_p.R231S|LRRC4C_uc001mxd.1_Missense_Mutation_p.R231S|LRRC4C_uc001mxb.1_Missense_Mutation_p.R231S	p.R235S	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	2669	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	235			LRR 7.		A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.705G>T	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	C	8.094	0.775190	0.16051	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.04156	3.69;3.69;3.69;3.69	5.44	2.22	0.28083	.	0.116282	0.64402	D	0.000020	T	0.02193	0.0068	N	0.03294	-0.36	0.44155	D	0.996954	B	0.10296	0.003	B	0.15484	0.013	T	0.52026	-0.8630	10	0.36615	T	0.2	.	7.2715	0.26260	0.0:0.6142:0.0:0.3858	.	235	Q9HCJ2	LRC4C_HUMAN	S	235	ENSP00000278198:R235S;ENSP00000436976:R235S;ENSP00000437132:R235S;ENSP00000434761:R235S	ENSP00000278198:R235S	R	-	3	2	LRRC4C	40093714	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	0.739000	0.26173	0.496000	0.27904	0.650000	0.86243	AGG		0.463	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		29	151	1	0	2.66e-16	3.22e-16	29	151				
OR4C3	256144	broad.mit.edu	37	11	48346805	48346805	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr11:48346805A>G	ENST00000319856.4	+	1	334	c.313A>G	c.(313-315)Aaa>Gaa	p.K105E		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TATGGCTCCTAAACTCATTGC	0.463																																						uc010rhv.1		NA																	0				skin(1)	1						c.(313-315)AAA>GAA		olfactory receptor, family 4, subfamily C,							194.0	183.0	187.0					11																	48346805		2201	4298	6499	SO:0001583	missense	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48346805A>G	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.313A>G	11.37:g.48346805A>G	ENSP00000321419:p.Lys105Glu						p.K105E	NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN			1	313	+			78			Extracellular (Potential).		B2RNF2|Q6IFB3	Missense_Mutation	SNP	ENST00000319856.4	37	c.313A>G	CCDS31489.1	.	.	.	.	.	.	.	.	.	.	A	16.22	3.060899	0.55432	.	.	ENSG00000176547	ENST00000319856	T	0.05580	3.42	5.78	5.78	0.91487	GPCR, rhodopsin-like superfamily (1);	0.118890	0.37857	N	0.001915	T	0.28896	0.0717	M	0.93939	3.475	0.09310	N	0.999994	P	0.51057	0.941	P	0.55615	0.78	T	0.40997	-0.9533	10	0.72032	D	0.01	.	14.2031	0.65716	1.0:0.0:0.0:0.0	.	78	Q8NH37	OR4C3_HUMAN	E	105	ENSP00000321419:K105E	ENSP00000321419:K105E	K	+	1	0	OR4C3	48303381	0.441000	0.25626	0.982000	0.44146	0.426000	0.31534	2.853000	0.48317	2.245000	0.73994	0.391000	0.25812	AAA		0.463	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		15	313	0	0	0	0	15	313				
OR5D14	219436	broad.mit.edu	37	11	55563331	55563331	+	Missense_Mutation	SNP	G	G	T	rs377754902		TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr11:55563331G>T	ENST00000335605.1	+	1	300	c.300G>T	c.(298-300)atG>atT	p.M100I		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TTAGCTGCATGATGCAGTACT	0.458																																						uc010rim.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(298-300)ATG>ATT		olfactory receptor, family 5, subfamily D,							152.0	125.0	134.0					11																	55563331		2200	4296	6496	SO:0001583	missense	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563331G>T	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.300G>T	11.37:g.55563331G>T	ENSP00000334456:p.Met100Ile						p.M100I	NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN			1	300	+		all_epithelial(135;0.196)	100			Extracellular (Potential).		Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	37	c.300G>T	CCDS31508.1	.	.	.	.	.	.	.	.	.	.	g	0.003	-2.433160	0.00182	.	.	ENSG00000186113	ENST00000335605	T	0.00359	7.87	5.08	3.14	0.36123	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000036	T	0.00144	0.0004	N	0.05414	-0.055	0.09310	N	0.999996	B	0.06786	0.001	B	0.04013	0.001	T	0.20739	-1.0266	10	0.12103	T	0.63	-20.4881	13.9082	0.63850	0.0:0.4441:0.5559:0.0	.	100	Q8NGL3	OR5DE_HUMAN	I	100	ENSP00000334456:M100I	ENSP00000334456:M100I	M	+	3	0	OR5D14	55319907	0.000000	0.05858	0.218000	0.23776	0.017000	0.09413	-0.833000	0.04396	0.500000	0.27991	-0.189000	0.12847	ATG		0.458	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		43	110	1	0	1.03e-14	1.24e-14	43	110				
GIF	2694	broad.mit.edu	37	11	59603312	59603312	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr11:59603312C>G	ENST00000257248.2	-	7	1089	c.1042G>C	c.(1042-1044)Gag>Cag	p.E348Q	GIF_ENST00000541311.1_Missense_Mutation_p.E323Q	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	348					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)	cobalamin binding (GO:0031419)			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	TGTGCTTCCTCTAGGACAACA	0.413																																					NSCLC(53;1139 1245 16872 38474 42853)	uc001noi.2		NA																	0				ovary(1)|liver(1)	2						c.(1042-1044)GAG>CAG		gastric intrinsic factor (vitamin B synthesis)							229.0	208.0	215.0					11																	59603312		2201	4295	6496	SO:0001583	missense	2694				cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding	g.chr11:59603312C>G	X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812			4268	protein-coding gene	gene with protein product		609342				2071148	Standard	NM_005142		Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.1042G>C	11.37:g.59603312C>G	ENSP00000257248:p.Glu348Gln						p.E348Q	NM_005142	NP_005133	P27352	IF_HUMAN			7	1090	-			348					B2RAN8|B4DVZ1	Missense_Mutation	SNP	ENST00000257248.2	37	c.1042G>C	CCDS7977.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.468130	0.26335	.	.	ENSG00000134812	ENST00000257248;ENST00000541311	T;T	0.42513	1.07;0.97	4.89	1.86	0.25419	.	0.384236	0.24276	N	0.039943	T	0.36496	0.0969	M	0.65498	2.005	0.28426	N	0.917494	B	0.19073	0.033	B	0.11329	0.006	T	0.29971	-0.9994	10	0.46703	T	0.11	-9.2047	6.4454	0.21873	0.0:0.5423:0.3597:0.098	.	348	P27352	IF_HUMAN	Q	348;323	ENSP00000257248:E348Q;ENSP00000440427:E323Q	ENSP00000257248:E348Q	E	-	1	0	GIF	59359888	0.851000	0.29673	0.901000	0.35422	0.455000	0.32408	0.160000	0.16462	0.216000	0.20781	0.655000	0.94253	GAG		0.413	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394497.1	NM_005142		106	292	0	0	0	0	106	292				
AHNAK	79026	broad.mit.edu	37	11	62294809	62294809	+	Silent	SNP	T	T	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr11:62294809T>C	ENST00000378024.4	-	5	7354	c.7080A>G	c.(7078-7080)gtA>gtG	p.V2360V	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2360					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTCCACAGCTACTTCTGGCA	0.453																																						uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(7078-7080)GTA>GTG		AHNAK nucleoprotein isoform 1							137.0	145.0	142.0					11																	62294809		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62294809T>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.7080A>G	11.37:g.62294809T>C						AHNAK_uc001ntk.1_Intron	p.V2360V	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	7380	-		Melanoma(852;0.155)	2360					A1A586	Silent	SNP	ENST00000378024.4	37	c.7080A>G	CCDS31584.1																																																																																				0.453	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		112	384	0	0	0	0	112	384				
KRTAP5-11	440051	broad.mit.edu	37	11	71293827	71293827	+	Silent	SNP	G	G	A	rs373629079		TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr11:71293827G>A	ENST00000398530.1	-	1	94	c.57C>T	c.(55-57)tcC>tcT	p.S19S	KRTAP5-11_ENST00000526239.1_Intron|AP000867.1_ENST00000343767.3_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	19						keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCCCACTGCCGGAGCCACAGC	0.632																																						uc001oqu.2		NA																	0					0						c.(55-57)TCC>TCT		keratin associated protein 5-11		G		1,4377		0,1,2188	32.0	45.0	41.0		57	-0.1	0.9	11		41	1,8579		0,1,4289	no	coding-synonymous	KRTAP5-11	NM_001005405.2		0,2,6477	AA,AG,GG		0.0117,0.0228,0.0154		19/157	71293827	2,12956	2189	4290	6479	SO:0001819	synonymous_variant	440051					keratin filament		g.chr11:71293827G>A	AB126080	CCDS41685.1	11q13.4	2008-11-06			ENSG00000204571	ENSG00000204571		"""Keratin associated proteins"""	23606	protein-coding gene	gene with protein product						15144888	Standard	NM_001005405		Approved	KRTAP5.11, KRTAP5-6	uc001oqu.3	Q6L8G4	OTTHUMG00000057586	ENST00000398530.1:c.57C>T	11.37:g.71293827G>A							p.S19S	NM_001005405	NP_001005405	Q6L8G4	KR511_HUMAN			1	95	-			19						Silent	SNP	ENST00000398530.1	37	c.57C>T	CCDS41685.1																																																																																				0.632	KRTAP5-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127969.1	NM_001005405		22	45	0	0	0	0	22	45				
ST14	6768	broad.mit.edu	37	11	130058529	130058529	+	Silent	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr11:130058529C>T	ENST00000278742.5	+	3	764	c.346C>T	c.(346-348)Ctg>Ttg	p.L116L		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	116	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GTTTGTAAGCCTGGCCAGCAA	0.572																																						uc001qfw.2		NA																	0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(346-348)CTG>TTG		matriptase	Urokinase(DB00013)						102.0	92.0	95.0					11																	130058529		2201	4297	6498	SO:0001819	synonymous_variant	6768				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr11:130058529C>T	AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"""Serine peptidases / Transmembrane"""	11344	protein-coding gene	gene with protein product	"""epithin"", ""matriptase"""	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.346C>T	11.37:g.130058529C>T						ST14_uc010sca.1_5'Flank	p.L116L	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	3	539	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	116			Extracellular (Potential).		Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Silent	SNP	ENST00000278742.5	37	c.346C>T	CCDS8487.1																																																																																				0.572	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1			54	57	0	0	0	0	54	57				
GLB1L3	112937	broad.mit.edu	37	11	134153634	134153634	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr11:134153634G>C	ENST00000431683.2	+	6	531	c.531G>C	c.(529-531)tgG>tgC	p.W177C	GLB1L3_ENST00000389887.5_Missense_Mutation_p.W177C	NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	177					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CCCCCAGCTGGCTCCTGCAAG	0.592																																						uc009zdf.2		NA																	0				pancreas(1)	1						c.(529-531)TGG>TGC		galactosidase, beta 1 like 3							36.0	37.0	37.0					11																	134153634		1922	4122	6044	SO:0001583	missense	112937				carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134153634G>C		CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.531G>C	11.37:g.134153634G>C	ENSP00000396615:p.Trp177Cys					GLB1L3_uc010scs.1_Missense_Mutation_p.W177C|GLB1L3_uc010sct.1_Missense_Mutation_p.W29C	p.W177C	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)	6	891	+	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)	177					A6NEM0|A6NN15|Q6P3S3|Q96FF8	Missense_Mutation	SNP	ENST00000431683.2	37	c.531G>C	CCDS44780.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.313217	0.60414	.	.	ENSG00000166105	ENST00000389887;ENST00000431683	D;D	0.99287	-5.69;-5.69	4.49	3.56	0.40772	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.99619	0.9861	H	0.98370	4.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.97885	1.0294	9	0.87932	D	0	.	11.3465	0.49563	0.0:0.0:0.818:0.182	.	177;177	Q8NCI6-4;Q8NCI6	.;GLBL3_HUMAN	C	177	ENSP00000374537:W177C;ENSP00000396615:W177C	ENSP00000374537:W177C	W	+	3	0	GLB1L3	133658844	1.000000	0.71417	0.974000	0.42286	0.788000	0.44548	6.569000	0.73992	1.204000	0.43247	0.585000	0.79938	TGG		0.592	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416		7	8	0	0	0	0	7	8				
KLRG1	10219	broad.mit.edu	37	12	9162052	9162052	+	Nonsense_Mutation	SNP	C	C	A	rs145154967		TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr12:9162052C>A	ENST00000266551.4	+	5	504	c.489C>A	c.(487-489)tgC>tgA	p.C163*	KLRG1_ENST00000356986.3_Nonsense_Mutation_p.C163*|KLRG1_ENST00000538029.1_3'UTR	NM_005810.3	NP_005801.3	Q96E93	KLRG1_HUMAN	killer cell lectin-like receptor subfamily G, member 1	163	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						TGCAGACATGCGGTGCCATCA	0.433													C|||	1	0.000199681	0.0	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.001					uc001qvh.2		NA																	0				central_nervous_system(1)	1						c.(487-489)TGC>TGA		killer cell lectin-like receptor subfamily G,							136.0	129.0	131.0					12																	9162052		2203	4300	6503	SO:0001587	stop_gained	10219				cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response	integral to membrane	receptor activity|sugar binding	g.chr12:9162052C>A	AF097358	CCDS8599.1	12p13.31	2011-08-30			ENSG00000139187	ENSG00000139187		"""Killer cell lectin-like receptors"", ""C-type lectin domain containing"""	6380	protein-coding gene	gene with protein product	"""C-type lectin domain family 15, member A"""	604874				9862378, 9842918, 16461340, 16140789	Standard	NM_005810		Approved	MAFA, 2F1, MAFA-L, CLEC15A	uc001qvg.3	Q96E93		ENST00000266551.4:c.489C>A	12.37:g.9162052C>A	ENSP00000266551:p.Cys163*					KLRG1_uc001qvg.2_Nonsense_Mutation_p.C163*	p.C163*	NM_005810	NP_005801	Q96E93	KLRG1_HUMAN			5	500	+			163			C-type lectin.|Extracellular (Potential).		B7ZAM2|O43198|O75613	Nonsense_Mutation	SNP	ENST00000266551.4	37	c.489C>A		.	.	.	.	.	.	.	.	.	.	C	3.320	-0.138935	0.06669	.	.	ENSG00000139187	ENST00000356986;ENST00000266551	.	.	.	3.5	-2.3	0.06785	.	0.000000	0.49916	D	0.000137	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.0023	4.0276	0.09695	0.0:0.3408:0.1905:0.4687	.	.	.	.	X	163	.	.	C	+	3	2	KLRG1	9053319	0.990000	0.36364	0.029000	0.17559	0.022000	0.10575	-0.221000	0.09202	-0.370000	0.08016	-0.459000	0.05422	TGC		0.433	KLRG1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399145.1	NM_005810		38	92	1	0	2.04e-09	2.34e-09	38	92				
LDHB	3945	broad.mit.edu	37	12	21791345	21791345	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr12:21791345T>C	ENST00000396076.1	-	6	987	c.655A>G	c.(655-657)Atg>Gtg	p.M219V	LDHB_ENST00000350669.1_Missense_Mutation_p.M219V	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN	lactate dehydrogenase B	219					cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|lactate metabolic process (GO:0006089)|NAD metabolic process (GO:0019674)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	L-lactate dehydrogenase activity (GO:0004459)|NAD binding (GO:0051287)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26						TCAGTTCCCATTTCTGGATTC	0.358																																						uc001rfc.2		NA																	0				breast(2)|ovary(1)	3						c.(655-657)ATG>GTG		L-lactate dehydrogenase B	NADH(DB00157)						119.0	115.0	116.0					12																	21791345		2203	4300	6503	SO:0001583	missense	3945				glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity	g.chr12:21791345T>C		CCDS8691.1	12p12.2-p12.1	2012-10-02			ENSG00000111716	ENSG00000111716	1.1.1.27		6541	protein-coding gene	gene with protein product		150100					Standard	NM_002300		Approved		uc001rfe.3	P07195	OTTHUMG00000133760	ENST00000396076.1:c.655A>G	12.37:g.21791345T>C	ENSP00000379386:p.Met219Val					LDHB_uc001rfd.2_Missense_Mutation_p.M219V|LDHB_uc001rfe.2_Missense_Mutation_p.M219V	p.M219V	NM_002300	NP_002291	P07195	LDHB_HUMAN			5	673	-			219						Missense_Mutation	SNP	ENST00000396076.1	37	c.655A>G	CCDS8691.1	.	.	.	.	.	.	.	.	.	.	T	12.76	2.034624	0.35893	.	.	ENSG00000111716	ENST00000396076;ENST00000350669;ENST00000396075	T;T;T	0.65732	-0.17;-0.17;-0.17	4.89	4.89	0.63831	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.080064	0.85682	D	0.000000	T	0.44664	0.1304	L	0.28115	0.83	0.46901	D	0.999244	B	0.02656	0.0	B	0.13407	0.009	T	0.41378	-0.9512	10	0.42905	T	0.14	.	5.2884	0.15714	0.157:0.0831:0.0:0.7598	.	219	P07195	LDHB_HUMAN	V	219	ENSP00000379386:M219V;ENSP00000229319:M219V;ENSP00000379385:M219V	ENSP00000229319:M219V	M	-	1	0	LDHB	21682612	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	3.355000	0.52262	1.831000	0.53308	0.533000	0.62120	ATG		0.358	LDHB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258220.2	NM_002300		57	122	0	0	0	0	57	122				
C2CD5	9847	broad.mit.edu	37	12	22637814	22637814	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr12:22637814T>A	ENST00000333957.4	-	13	1622	c.1367A>T	c.(1366-1368)gAa>gTa	p.E456V	C2CD5_ENST00000542676.1_Missense_Mutation_p.E456V|C2CD5_ENST00000544930.1_Missense_Mutation_p.E271V|C2CD5_ENST00000446597.1_Missense_Mutation_p.E456V|C2CD5_ENST00000396028.2_Missense_Mutation_p.E447V|C2CD5_ENST00000536386.1_Missense_Mutation_p.E458V|C2CD5_ENST00000545552.1_Missense_Mutation_p.E469V	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	456					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										AGGCAAATTTTCTTCAAGCCt	0.274																																						uc001rfq.2		NA																	0				ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						c.(1366-1368)GAA>GTA		hypothetical protein LOC9847							40.0	38.0	39.0					12																	22637814		2203	4300	6503	SO:0001583	missense	9847						protein binding	g.chr12:22637814T>A	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.1367A>T	12.37:g.22637814T>A	ENSP00000334229:p.Glu456Val					KIAA0528_uc010sir.1_Missense_Mutation_p.E271V|KIAA0528_uc010sis.1_Missense_Mutation_p.E456V|KIAA0528_uc010sit.1_Missense_Mutation_p.E458V|KIAA0528_uc010siu.1_Missense_Mutation_p.E456V|KIAA0528_uc001rfr.2_Missense_Mutation_p.E447V|KIAA0528_uc009ziy.1_Missense_Mutation_p.E458V	p.E456V	NM_014802	NP_055617	Q86YS7	K0528_HUMAN			13	1595	-			456					B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	37	c.1367A>T	CCDS31758.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.4|21.4	4.150696|4.150696	0.78001|0.78001	.|.	.|.	ENSG00000111731|ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930|ENST00000535555	T;T;T;T;T;T;T|.	0.55052|.	0.54;0.54;0.54;0.54;0.54;0.54;0.54|.	5.11|5.11	5.11|5.11	0.69529|0.69529	.|.	0.063176|.	0.64402|.	D|.	0.000008|.	T|T	0.62245|0.62245	0.2412|0.2412	L|L	0.48642|0.48642	1.525|1.525	0.58432|0.58432	D|D	0.999998|0.999998	B;B;D;B;D;B|.	0.71674|.	0.08;0.085;0.998;0.048;0.991;0.015|.	B;B;D;B;P;B|.	0.65773|.	0.027;0.012;0.938;0.012;0.886;0.004|.	T|T	0.60214|0.60214	-0.7307|-0.7307	10|5	0.36615|.	T|.	0.2|.	-8.9822|-8.9822	14.9094|14.9094	0.70743|0.70743	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	458;456;271;458;447;456|.	F5H2A1;B4DRN7;F5H3N1;B7ZLL0;Q86YS7-2;Q86YS7|.	.;.;.;.;.;K0528_HUMAN|.	V|S	456;456;458;447;456;469;271|153	ENSP00000334229:E456V;ENSP00000388756:E456V;ENSP00000439392:E458V;ENSP00000379345:E447V;ENSP00000441951:E456V;ENSP00000443204:E469V;ENSP00000445288:E271V|.	ENSP00000334229:E456V|.	E|R	-|-	2|3	0|2	KIAA0528|KIAA0528	22529081|22529081	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.901000|0.901000	0.52897|0.52897	7.197000|7.197000	0.77814|0.77814	1.910000|1.910000	0.55303|0.55303	0.460000|0.460000	0.39030|0.39030	GAA|AGA		0.274	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		34	32	0	0	0	0	34	32				
PCED1B	91523	broad.mit.edu	37	12	47472679	47472679	+	5'Flank	SNP	C	C	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr12:47472679C>G	ENST00000546455.1	+	0	0				AMIGO2_ENST00000550413.1_Missense_Mutation_p.G36A|AMIGO2_ENST00000429635.1_Missense_Mutation_p.G36A|AMIGO2_ENST00000321382.3_Missense_Mutation_p.G36A|AMIGO2_ENST00000266581.4_Missense_Mutation_p.G36A			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B								hydrolase activity (GO:0016787)										CCCAGAGGCACCAGGGCCCAC	0.587																																						uc001rpm.2		NA																	0				ovary(1)|skin(1)	2						c.(106-108)GGT>GCT		adhesion molecule with Ig-like domain 2							82.0	79.0	80.0					12																	47472679		2203	4300	6503	SO:0001631	upstream_gene_variant	347902				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane		g.chr12:47472679C>G	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617		12.37:g.47472679C>G	Exception_encountered					FAM113B_uc001rpn.2_5'Flank|AMIGO2_uc001rpk.2_Missense_Mutation_p.G36A|AMIGO2_uc001rpl.2_Missense_Mutation_p.G36A	p.G36A	NM_001143668	NP_001137140	Q86SJ2	AMGO2_HUMAN			3	762	-	Renal(347;0.138)|Lung SC(27;0.192)		36					Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	c.107G>C	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	C	9.128	1.010794	0.19277	.	.	ENSG00000139211	ENST00000266581;ENST00000550413;ENST00000429635;ENST00000321382	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	4.75	3.85	0.44370	.	0.313177	0.28700	N	0.014431	T	0.35128	0.0921	L	0.37630	1.12	0.22787	N	0.998737	B	0.18741	0.03	B	0.15870	0.014	T	0.15780	-1.0425	10	0.08179	T	0.78	-4.8243	14.8003	0.69909	0.0:0.8547:0.1453:0.0	.	36	Q86SJ2	AMGO2_HUMAN	A	36	ENSP00000266581:G36A;ENSP00000449034:G36A;ENSP00000406020:G36A;ENSP00000320848:G36A	ENSP00000266581:G36A	G	-	2	0	AMIGO2	45758946	0.792000	0.28813	0.097000	0.21041	0.521000	0.34408	4.053000	0.57427	1.296000	0.44742	0.655000	0.94253	GGT		0.587	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		47	104	0	0	0	0	47	104				
PTPRR	5801	broad.mit.edu	37	12	71158499	71158499	+	Silent	SNP	T	T	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr12:71158499T>G	ENST00000283228.2	-	3	869	c.417A>C	c.(415-417)ggA>ggC	p.G139G	PTPRR_ENST00000342084.4_Silent_p.G27G	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	139					ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		CTGCAGCCACTCCTTGGCGGA	0.408																																						uc001swi.1		NA																	0				skin(2)|ovary(1)	3						c.(415-417)GGA>GGC		protein tyrosine phosphatase, receptor type, R							116.0	100.0	105.0					12																	71158499		2203	4300	6503	SO:0001819	synonymous_variant	5801				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71158499T>G	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.417A>C	12.37:g.71158499T>G						PTPRR_uc010stq.1_Silent_p.G27G	p.G139G	NM_002849	NP_002840	Q15256	PTPRR_HUMAN	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	3	833	-			139			Extracellular (Potential).		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Silent	SNP	ENST00000283228.2	37	c.417A>C	CCDS8998.1																																																																																				0.408	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		63	91	0	0	0	0	63	91				
ACSS3	79611	broad.mit.edu	37	12	81472119	81472119	+	Nonsense_Mutation	SNP	G	G	T	rs144134515		TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr12:81472119G>T	ENST00000548058.1	+	1	1130	c.220G>T	c.(220-222)Gag>Tag	p.E74*	ACSS3_ENST00000261206.3_Nonsense_Mutation_p.E74*			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	74						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GACCGACCCCGAGAGGTTCTG	0.657																																						uc001szl.1		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(220-222)GAG>TAG		acyl-CoA synthetase short-chain family member 3		G	stop/GLU	1,4017		0,1,2008	38.0	36.0	37.0		220	4.9	0.9	12	dbSNP_134	37	0,8028		0,0,4014	no	stop-gained	ACSS3	NM_024560.2		0,1,6022	TT,TG,GG		0.0,0.0249,0.0083		74/687	81472119	1,12045	2009	4014	6023	SO:0001587	stop_gained	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81472119G>T		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.220G>T	12.37:g.81472119G>T	ENSP00000449535:p.Glu74*					ACSS3_uc001szm.1_Nonsense_Mutation_p.E74*	p.E74*	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN			1	311	+			74					Q8NC66	Nonsense_Mutation	SNP	ENST00000548058.1	37	c.220G>T	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	G	33	5.278510	0.95459	2.49E-4	0.0	ENSG00000111058	ENST00000548058;ENST00000261206	.	.	.	4.92	4.92	0.64577	.	0.172652	0.49916	D	0.000128	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-17.7999	11.3584	0.49630	0.0:0.183:0.817:0.0	.	.	.	.	X	74	.	ENSP00000261206:E74X	E	+	1	0	ACSS3	79996250	0.997000	0.39634	0.896000	0.35187	0.407000	0.30961	3.157000	0.50716	2.553000	0.86117	0.655000	0.94253	GAG		0.657	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		12	64	1	0	9.05e-18	1.11e-17	12	64				
VEZT	55591	broad.mit.edu	37	12	95660258	95660258	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr12:95660258T>A	ENST00000436874.1	+	5	665	c.560T>A	c.(559-561)tTa>tAa	p.L187*	VEZT_ENST00000261219.6_Nonsense_Mutation_p.L139*|VEZT_ENST00000356859.4_3'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	187					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						GCTTTGAGATTATGGAGGACA	0.428																																						uc001tdz.2		NA																	0				ovary(1)	1						c.(559-561)TTA>TAA		vezatin, adherens junctions transmembrane							232.0	221.0	225.0					12																	95660258		1897	4124	6021	SO:0001587	stop_gained	55591					acrosomal vesicle|adherens junction|integral to membrane|nucleus		g.chr12:95660258T>A	AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.560T>A	12.37:g.95660258T>A	ENSP00000410083:p.Leu187*					VEZT_uc009zsy.1_Nonsense_Mutation_p.L29*|VEZT_uc001tdr.2_Nonsense_Mutation_p.L29*|VEZT_uc001tds.2_Nonsense_Mutation_p.L139*|VEZT_uc001tdt.2_Nonsense_Mutation_p.L139*|VEZT_uc009zsz.1_Nonsense_Mutation_p.L187*|VEZT_uc001tdv.2_Nonsense_Mutation_p.L156*|VEZT_uc001tdw.1_Nonsense_Mutation_p.L139*|VEZT_uc009zta.1_Nonsense_Mutation_p.L139*	p.L187*	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN			5	665	+			187					Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Nonsense_Mutation	SNP	ENST00000436874.1	37	c.560T>A	CCDS44954.1	.	.	.	.	.	.	.	.	.	.	T	16.15	3.042777	0.55003	.	.	ENSG00000028203	ENST00000436874;ENST00000549002;ENST00000261219;ENST00000397792;ENST00000397796	.	.	.	5.1	3.88	0.44766	.	0.848745	0.10824	N	0.630153	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.4928	3.6971	0.08368	0.0:0.1931:0.2048:0.6021	.	.	.	.	X	187;157;139;139;187	.	ENSP00000261219:L139X	L	+	2	0	VEZT	94184389	0.972000	0.33761	0.981000	0.43875	0.383000	0.30230	2.539000	0.45718	2.026000	0.59711	0.533000	0.62120	TTA		0.428	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2	NM_017599		132	210	0	0	0	0	132	210				
RFX4	5992	broad.mit.edu	37	12	107126787	107126787	+	Silent	SNP	C	C	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr12:107126787C>G	ENST00000392842.1	+	15	1971	c.1557C>G	c.(1555-1557)gcC>gcG	p.A519A	RFX4_ENST00000357881.4_Silent_p.A528A|RFX4_ENST00000229387.5_Silent_p.A425A|RP11-144F15.1_ENST00000551505.1_Intron|RP11-482D24.3_ENST00000552415.1_RNA	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	519					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CAAAATCTGCCACATCTGTGG	0.507																																						uc001tlr.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(1555-1557)GCC>GCG		regulatory factor X4 isoform c							162.0	147.0	152.0					12																	107126787		2203	4300	6503	SO:0001819	synonymous_variant	5992				transcription, DNA-dependent	nucleus	DNA binding	g.chr12:107126787C>G	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.1557C>G	12.37:g.107126787C>G						RFX4_uc001tls.2_Silent_p.A528A|RFX4_uc001tlt.2_Silent_p.A528A|RFX4_uc001tlv.2_Silent_p.A425A	p.A519A	NM_213594	NP_998759	Q33E94	RFX4_HUMAN			15	1623	+			519					A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Silent	SNP	ENST00000392842.1	37	c.1557C>G	CCDS9106.1																																																																																				0.507	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491		74	122	0	0	0	0	74	122				
KDM2B	84678	broad.mit.edu	37	12	121878774	121878774	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr12:121878774C>T	ENST00000377071.4	-	21	3527	c.3455G>A	c.(3454-3456)cGg>cAg	p.R1152Q	KDM2B_ENST00000542973.1_Missense_Mutation_p.R520Q|KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377069.4_Missense_Mutation_p.R1083Q	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1152					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CACCAAGTCCCGGAGCCCTGG	0.647																																						uc001uat.2		NA																	0				ovary(1)|skin(1)	2						c.(3454-3456)CGG>CAG		F-box and leucine-rich repeat protein 10 isoform							31.0	38.0	36.0					12																	121878774		2086	4208	6294	SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121878774C>T	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.3455G>A	12.37:g.121878774C>T	ENSP00000366271:p.Arg1152Gln					KDM2B_uc001uaq.2_Missense_Mutation_p.R592Q|KDM2B_uc010szy.1_Missense_Mutation_p.R592Q|KDM2B_uc001uar.2_Missense_Mutation_p.R743Q|KDM2B_uc001uas.2_Missense_Mutation_p.R1083Q|KDM2B_uc001uau.2_Intron|KDM2B_uc001uao.2_Missense_Mutation_p.R400Q|KDM2B_uc010szx.1_Missense_Mutation_p.R400Q|KDM2B_uc001uap.2_RNA	p.R1152Q	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN			21	3559	-			1152			LRR 2.		A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.3455G>A	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158114	0.78114	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.28895	1.59;1.59;1.59	5.83	4.02	0.46733	.	0.562292	0.14975	N	0.287561	T	0.43344	0.1243	L	0.33245	0.995	0.80722	D	1	B;B;D;P	0.89917	0.259;0.123;1.0;0.693	B;B;D;B	0.79108	0.072;0.014;0.992;0.072	T	0.11966	-1.0566	10	0.46703	T	0.11	-10.8204	12.2227	0.54443	0.0:0.8635:0.0:0.1365	.	592;1152;1083;595	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	Q	1140;520;1083;1152;595;1155	ENSP00000437821:R520Q;ENSP00000366269:R1083Q;ENSP00000366271:R1152Q	ENSP00000261824:R1155Q	R	-	2	0	KDM2B	120363157	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	4.909000	0.63314	0.823000	0.34589	0.655000	0.94253	CGG		0.647	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		14	66	0	0	0	0	14	66				
PIWIL1	9271	broad.mit.edu	37	12	130851726	130851726	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr12:130851726T>G	ENST00000245255.3	+	19	2516	c.2244T>G	c.(2242-2244)ttT>ttG	p.F748L	PIWIL1_ENST00000541480.1_3'UTR	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	748	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ACACCAGATTTTTTGCTCAGT	0.408																																						uc001uik.2		NA																	0				ovary(2)	2						c.(2242-2244)TTT>TTG		piwi-like 1							167.0	155.0	159.0					12																	130851726		2203	4300	6503	SO:0001583	missense	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130851726T>G	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.2244T>G	12.37:g.130851726T>G	ENSP00000245255:p.Phe748Leu					PIWIL1_uc001uij.1_Missense_Mutation_p.F748L	p.F748L	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	19	2334	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		748			Piwi.		A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	c.2244T>G	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.007106	0.75046	.	.	ENSG00000125207	ENST00000245255	T	0.30714	1.52	5.78	-0.471	0.12119	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.34077	0.0885	N	0.26130	0.795	0.58432	D	0.999994	D;P	0.89917	1.0;0.808	D;B	0.91635	0.999;0.389	T	0.03306	-1.1050	10	0.20519	T	0.43	-15.8562	10.3437	0.43893	0.0:0.5659:0.0:0.4341	.	748;748	Q96J94;Q96J94-2	PIWL1_HUMAN;.	L	748	ENSP00000245255:F748L	ENSP00000245255:F748L	F	+	3	2	PIWIL1	129417679	1.000000	0.71417	0.926000	0.36857	0.967000	0.64934	1.540000	0.36115	-0.084000	0.12595	0.482000	0.46254	TTT		0.408	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			45	198	0	0	0	0	45	198				
PCDH9	5101	broad.mit.edu	37	13	67799767	67799767	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr13:67799767C>A	ENST00000377865.2	-	1	2940	c.2806G>T	c.(2806-2808)Gcc>Tcc	p.A936S	PCDH9_ENST00000328454.5_Missense_Mutation_p.A936S|PCDH9_ENST00000377861.3_Missense_Mutation_p.A936S|PCDH9_ENST00000456367.1_Missense_Mutation_p.A936S|PCDH9_ENST00000544246.1_Missense_Mutation_p.A936S			Q9HC56	PCDH9_HUMAN	protocadherin 9	936					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TAGTGCTTGGCCAGGTCAGGA	0.502																																						uc001vik.2		NA																	0				ovary(4)|pancreas(1)|skin(1)	6						c.(2806-2808)GCC>TCC		protocadherin 9 isoform 1 precursor							143.0	141.0	142.0					13																	67799767		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67799767C>A	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.2806G>T	13.37:g.67799767C>A	ENSP00000367096:p.Ala936Ser					PCDH9_uc001vil.2_Missense_Mutation_p.A936S|PCDH9_uc010thl.1_Missense_Mutation_p.A936S|PCDH9_uc001vin.3_Missense_Mutation_p.A936S	p.A936S	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	3498	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	936			Cytoplasmic (Potential).		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.2806G>T	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679982	0.68042	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06	5.73	5.73	0.89815	Protocadherin (1);	0.000000	0.85682	D	0.000000	T	0.66426	0.2788	M	0.70595	2.14	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.65582	-0.6133	10	0.52906	T	0.07	.	19.9002	0.96983	0.0:1.0:0.0:0.0	.	936;936;936;936	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	S	936	ENSP00000442186:A936S;ENSP00000367096:A936S;ENSP00000401699:A936S;ENSP00000332060:A936S;ENSP00000367092:A936S	ENSP00000332060:A936S	A	-	1	0	PCDH9	66697768	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.709000	0.92574	0.655000	0.94253	GCC		0.502	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		67	88	1	0	5.26e-25	6.58e-25	67	88				
SLITRK6	84189	broad.mit.edu	37	13	86369608	86369608	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr13:86369608G>A	ENST00000400286.2	-	2	1634	c.1036C>T	c.(1036-1038)Cat>Tat	p.H346Y		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	346	LRRNT 2.				adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TCCTGACAATGTATTAGAAGT	0.408																																						uc001vll.1		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(1036-1038)CAT>TAT		slit and trk like 6 precursor							115.0	103.0	107.0					13																	86369608		1890	4124	6014	SO:0001583	missense	84189					integral to membrane		g.chr13:86369608G>A	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.1036C>T	13.37:g.86369608G>A	ENSP00000383143:p.His346Tyr					SLITRK6_uc010afe.1_Missense_Mutation_p.H111Y	p.H346Y	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	1495	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		346			Extracellular (Potential).|LRRNT 2.		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	c.1036C>T	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	g	12.39	1.924536	0.34002	.	.	ENSG00000184564	ENST00000400286	T	0.02323	4.34	5.86	5.02	0.67125	.	0.052136	0.85682	N	0.000000	T	0.08758	0.0217	L	0.40543	1.245	0.41539	D	0.988508	D	0.76494	0.999	D	0.63488	0.915	T	0.15009	-1.0452	10	0.51188	T	0.08	-9.6499	14.0261	0.64586	0.0729:0.0:0.9271:0.0	.	346	Q9H5Y7	SLIK6_HUMAN	Y	346	ENSP00000383143:H346Y	ENSP00000383143:H346Y	H	-	1	0	SLITRK6	85267609	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	4.810000	0.62598	1.505000	0.48720	-0.196000	0.12772	CAT		0.408	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		70	97	0	0	0	0	70	97				
OR4M1	441670	broad.mit.edu	37	14	20248817	20248817	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr14:20248817G>C	ENST00000315957.4	+	1	417	c.336G>C	c.(334-336)atG>atC	p.M112I		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTCGGAGATGTTCTTGCTCA	0.478																																						uc010tku.1		NA																	0					0						c.(334-336)ATG>ATC		olfactory receptor, family 4, subfamily M,							240.0	252.0	248.0					14																	20248817		2203	4300	6503	SO:0001583	missense	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20248817G>C		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.336G>C	14.37:g.20248817G>C	ENSP00000319654:p.Met112Ile						p.M112I	NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	336	+	all_cancers(95;0.00108)		112			Helical; Name=3; (Potential).		B9EH18|Q6IFA3	Missense_Mutation	SNP	ENST00000315957.4	37	c.336G>C	CCDS32021.1	.	.	.	.	.	.	.	.	.	.	.	0.677	-0.799511	0.02841	.	.	ENSG00000176299	ENST00000315957	T	0.00388	7.59	4.33	4.33	0.51752	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000014	T	0.00210	0.0006	L	0.31207	0.915	0.28032	N	0.934099	B	0.30439	0.279	B	0.27608	0.081	T	0.41142	-0.9525	10	0.05959	T	0.93	-21.4932	14.6986	0.69139	0.0:0.0:1.0:0.0	.	112	Q8NGD0	OR4M1_HUMAN	I	112	ENSP00000319654:M112I	ENSP00000319654:M112I	M	+	3	0	OR4M1	19318657	0.000000	0.05858	1.000000	0.80357	0.945000	0.59286	-0.007000	0.12810	2.407000	0.81776	0.506000	0.49869	ATG		0.478	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			153	598	0	0	0	0	153	598				
TEP1	7011	broad.mit.edu	37	14	20849089	20849089	+	Splice_Site	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr14:20849089C>T	ENST00000262715.5	-	33	4803		c.e33+1		TEP1_ENST00000545983.1_Splice_Site|TEP1_ENST00000556935.1_Splice_Site	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1						RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ACTCATCTCACCATAGAGGGC	0.577																																						uc001vxe.2		NA																	0				ovary(5)	5						c.e33+1		telomerase-associated protein 1							54.0	53.0	53.0					14																	20849089		2203	4300	6503	SO:0001630	splice_region_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20849089C>T		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.4762+1G>A	14.37:g.20849089C>T						TEP1_uc010ahk.2_Splice_Site_p.A931_splice|TEP1_uc010tlf.1_Splice_Site|TEP1_uc010tlg.1_Splice_Site_p.A1480_splice|TEP1_uc010tlh.1_Splice_Site	p.A1588_splice	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	33	4802	-	all_cancers(95;0.00123)	all_lung(585;0.235)						A0AUV9	Splice_Site	SNP	ENST00000262715.5	37	c.4762_splice	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092630	0.76756	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.443	0.83907	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TEP1	19918929	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	3.006000	0.49529	2.613000	0.88420	0.655000	0.94253	.		0.577	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110	Intron	23	70	0	0	0	0	23	70				
GOLGA5	9950	broad.mit.edu	37	14	93277936	93277936	+	Missense_Mutation	SNP	G	G	A	rs200288795		TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr14:93277936G>A	ENST00000163416.2	+	6	1413	c.1157G>A	c.(1156-1158)cGt>cAt	p.R386H	GOLGA5_ENST00000355976.2_Missense_Mutation_p.R386H	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	386					Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		GAAATGGAACGTCAGAATTTA	0.358			T	RET	papillary thyroid																																	uc001yaz.1		NA		Dom	yes		14	14q	9950	T	"""golgi autoantigen, golgin subfamily a, 5  (PTC5)"""			E	RET		papillary thyroid		0				ovary(2)|lung(1)	3						c.(1156-1158)CGT>CAT		Golgi autoantigen, golgin subfamily a, 5		G	HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	90.0	92.0	91.0		1157	4.1	0.9	14		91	0,8600		0,0,4300	no	missense	GOLGA5	NM_005113.2	29	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign	386/732	93277936	3,13003	2203	4300	6503	SO:0001583	missense	9950				Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding	g.chr14:93277936G>A	AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"""golgi integral membrane protein 5"""	606918	"""golgi autoantigen, golgin subfamily a, 5"""			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.1157G>A	14.37:g.93277936G>A	ENSP00000163416:p.Arg386His						p.R386H	NM_005113	NP_005104	Q8TBA6	GOGA5_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	6	1339	+		all_cancers(154;0.0934)	386			Cytoplasmic (Potential).|Potential.		C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Missense_Mutation	SNP	ENST00000163416.2	37	c.1157G>A	CCDS9905.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.333192	0.41297	6.81E-4	0.0	ENSG00000066455	ENST00000163416;ENST00000355976;ENST00000439315	T;T	0.49432	0.78;0.78	5.22	4.12	0.48240	.	0.136210	0.33875	N	0.004463	T	0.37865	0.1019	L	0.39397	1.21	0.58432	D	0.999999	B	0.31227	0.314	B	0.25291	0.059	T	0.30909	-0.9962	10	0.39692	T	0.17	-4.7689	14.6693	0.68932	0.0823:0.0:0.9177:0.0	.	386	Q8TBA6	GOGA5_HUMAN	H	386;386;295	ENSP00000163416:R386H;ENSP00000348252:R386H	ENSP00000163416:R386H	R	+	2	0	GOLGA5	92347689	1.000000	0.71417	0.914000	0.36105	0.398000	0.30690	6.007000	0.70731	2.446000	0.82766	0.557000	0.71058	CGT		0.358	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412365.1			42	120	0	0	0	0	42	120				
RYR3	6263	broad.mit.edu	37	15	33936553	33936553	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr15:33936553C>A	ENST00000389232.4	+	28	3668	c.3598C>A	c.(3598-3600)Cgc>Agc	p.R1200S	RYR3_ENST00000415757.3_Missense_Mutation_p.R1200S	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1200	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCAGATCGGCCGCATGAATCT	0.517																																						uc001zhi.2		NA																	0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(3598-3600)CGC>AGC		ryanodine receptor 3							65.0	65.0	65.0					15																	33936553		1963	4158	6121	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33936553C>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.3598C>A	15.37:g.33936553C>A	ENSP00000373884:p.Arg1200Ser					RYR3_uc010bar.2_Missense_Mutation_p.R1200S	p.R1200S	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	28	3668	+		all_lung(180;7.18e-09)	1200			B30.2/SPRY 2.|Cytoplasmic (By similarity).|4 X approximate repeats.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.3598C>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	30	5.052058	0.93793	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.70516	-0.49;-0.49	5.13	5.13	0.70059	SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.80623	0.4658	L	0.58510	1.815	0.80722	D	1	P;D	0.69078	0.946;0.997	P;P	0.62014	0.538;0.897	T	0.78889	-0.2026	10	0.41790	T	0.15	.	19.1356	0.93426	0.0:1.0:0.0:0.0	.	1200;1200	Q15413-2;Q15413	.;RYR3_HUMAN	S	1200	ENSP00000373884:R1200S;ENSP00000399610:R1200S	ENSP00000354735:R1200S	R	+	1	0	RYR3	31723845	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.609000	0.82925	2.826000	0.97356	0.655000	0.94253	CGC		0.517	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			13	9	1	0	1.05e-09	1.21e-09	13	9				
ACTC1	70	broad.mit.edu	37	15	35086967	35086967	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr15:35086967C>A	ENST00000290378.4	-	2	698	c.43G>T	c.(43-45)Ggc>Tgc	p.G15C	ACTC1_ENST00000557860.1_5'Flank|RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	15					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		AGCCCAGAGCCGTTGTCGCAC	0.677																																						uc001ziu.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(43-45)GGC>TGC		cardiac muscle alpha actin 1 proprotein							67.0	71.0	70.0					15																	35086967		2201	4298	6499	SO:0001583	missense	70				apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding	g.chr15:35086967C>A	BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"""actin, alpha, cardiac muscle"""	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.43G>T	15.37:g.35086967C>A	ENSP00000290378:p.Gly15Cys					uc001zit.1_Intron	p.G15C	NM_005159	NP_005150	P68032	ACTC_HUMAN		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	2	286	-		all_lung(180;2.3e-08)	15					P04270	Missense_Mutation	SNP	ENST00000290378.4	37	c.43G>T	CCDS10041.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159836	0.78226	.	.	ENSG00000159251	ENST00000290378;ENST00000544062	D	0.99906	-7.74	4.21	4.21	0.49690	.	0.000000	0.53938	U	0.000053	D	0.99957	0.9982	H	0.99986	5.25	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95686	0.8736	10	0.87932	D	0	.	16.9537	0.86252	0.0:1.0:0.0:0.0	.	15	P68032	ACTC_HUMAN	C	15	ENSP00000290378:G15C	ENSP00000290378:G15C	G	-	1	0	ACTC1	32874259	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.813000	0.86123	2.064000	0.61679	0.561000	0.74099	GGC		0.677	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251876.3	NM_005159		61	59	1	0	2.79e-41	3.65e-41	61	59				
ITPKA	3706	broad.mit.edu	37	15	41795316	41795316	+	Silent	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr15:41795316G>A	ENST00000260386.5	+	7	1391	c.1338G>A	c.(1336-1338)ctG>ctA	p.L446L		NM_002220.2	NP_002211.1	P23677	IP3KA_HUMAN	inositol-trisphosphate 3-kinase A	446					actin cytoskeleton organization (GO:0030036)|dendritic spine maintenance (GO:0097062)|inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|positive regulation of dendritic spine morphogenesis (GO:0061003)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendritic spine (GO:0043197)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			kidney(1)|lung(3)|skin(1)	5		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GCTATTTGCTGGGGCTGGACA	0.662																																						uc001znz.2		NA																	0					0						c.(1336-1338)CTG>CTA		1D-myo-inositol-trisphosphate 3-kinase A							48.0	47.0	48.0					15																	41795316		2203	4300	6503	SO:0001819	synonymous_variant	3706				signal transduction		ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr15:41795316G>A	X54938	CCDS10076.1	15q15.1	2011-04-28	2011-04-28		ENSG00000137825	ENSG00000137825	2.7.1.127		6178	protein-coding gene	gene with protein product		147521	"""inositol 1,4,5-trisphosphate 3-kinase A"""			1330886, 2175886	Standard	NM_002220		Approved	IP3KA, IP3-3KA	uc001znz.3	P23677	OTTHUMG00000130343	ENST00000260386.5:c.1338G>A	15.37:g.41795316G>A							p.L446L	NM_002220	NP_002211	P23677	IP3KA_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)	7	1349	+		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)	446					Q8TAN3	Silent	SNP	ENST00000260386.5	37	c.1338G>A	CCDS10076.1																																																																																				0.662	ITPKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252695.3	NM_002220		19	16	0	0	0	0	19	16				
ZNF106	64397	broad.mit.edu	37	15	42749328	42749328	+	Missense_Mutation	SNP	C	C	A	rs371393291		TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr15:42749328C>A	ENST00000263805.4	-	1	402	c.76G>T	c.(76-78)Ggg>Tgg	p.G26W	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	26					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TCTGTGACCCCGCACACTCGG	0.488																																						uc001zpw.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(76-78)GGG>TGG		zinc finger protein 106 homolog							86.0	79.0	82.0					15																	42749328		2203	4299	6502	SO:0001583	missense	64397					nucleolus	zinc ion binding	g.chr15:42749328C>A	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.76G>T	15.37:g.42749328C>A	ENSP00000263805:p.Gly26Trp					ZFP106_uc001zpv.2_Intron|ZFP106_uc001zpx.2_Intron|ZFP106_uc010udh.1_Intron|ZFP106_uc001zpy.1_Missense_Mutation_p.G49W	p.G26W	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN		GBM - Glioblastoma multiforme(94;8.6e-07)	1	411	-		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)	26			C2H2-type 1; atypical.		B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	c.76G>T	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.753891	0.49362	.	.	ENSG00000103994	ENST00000263805	T	0.46063	0.88	5.62	3.63	0.41609	Zinc finger, C2H2-like (1);	0.402754	0.23217	N	0.050615	T	0.46054	0.1373	L	0.29908	0.895	0.80722	D	1	D	0.69078	0.997	D	0.65573	0.936	T	0.42766	-0.9432	10	0.62326	D	0.03	-10.6312	7.6598	0.28396	0.0:0.3275:0.5559:0.1166	.	26	Q9H2Y7	ZF106_HUMAN	W	26	ENSP00000263805:G26W	ENSP00000263805:G26W	G	-	1	0	ZFP106	40536620	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.469000	0.22067	1.320000	0.45209	0.549000	0.68633	GGG		0.488	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		19	52	1	0	4.97e-08	5.61e-08	19	52				
THSD4	79875	broad.mit.edu	37	15	72023481	72023481	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr15:72023481C>A	ENST00000355327.3	+	10	1689	c.1555C>A	c.(1555-1557)Cca>Aca	p.P519T	THSD4_ENST00000261862.6_Missense_Mutation_p.P519T|THSD4_ENST00000357769.4_Missense_Mutation_p.P159T|THSD4_ENST00000567838.1_3'UTR			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	519					elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GCAGCCAAACCCAGGCGTGCA	0.552											OREG0023247	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002atb.1		NA																	0				ovary(2)	2						c.(1555-1557)CCA>ACA		thrombospondin, type I, domain containing 4							81.0	87.0	85.0					15																	72023481		2103	4229	6332	SO:0001583	missense	79875					proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:72023481C>A	AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.1555C>A	15.37:g.72023481C>A	ENSP00000347484:p.Pro519Thr		OREG0023247	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1134	THSD4_uc002atd.1_3'UTR|THSD4_uc010ukg.1_Missense_Mutation_p.P159T|THSD4_uc002ate.2_Missense_Mutation_p.P159T	p.P519T	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN			9	1634	+			519					B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	ENST00000355327.3	37	c.1555C>A	CCDS10238.2	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218896	0.79464	.	.	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769	T;T;T	0.52526	0.66;0.66;0.66	4.46	4.46	0.54185	ADAM-TS Spacer 1 (1);	0.729939	0.13051	N	0.417706	T	0.72930	0.3522	M	0.86864	2.845	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.994;1.0	D;D;D	0.91635	0.999;0.946;0.99	T	0.74731	-0.3566	10	0.52906	T	0.07	.	14.6178	0.68560	0.0:1.0:0.0:0.0	.	159;159;519	B4E1J6;B4DR13;Q6ZMP0	.;.;THSD4_HUMAN	T	519;519;159	ENSP00000347484:P519T;ENSP00000261862:P519T;ENSP00000350413:P159T	ENSP00000261862:P519T	P	+	1	0	THSD4	69810535	1.000000	0.71417	0.996000	0.52242	0.897000	0.52465	6.982000	0.76173	2.009000	0.58944	0.561000	0.74099	CCA		0.552	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		11	67	1	0	4.37e-10	5.03e-10	11	67				
AKAP13	11214	broad.mit.edu	37	15	86260576	86260576	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr15:86260576G>A	ENST00000394518.2	+	21	5886	c.5791G>A	c.(5791-5793)Gac>Aac	p.D1931N	AKAP13_ENST00000361243.2_Missense_Mutation_p.D1935N|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Missense_Mutation_p.D176N	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1931	Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TCATTCAACAGACTCACTAAA	0.378																																					Melanoma(94;603 1453 3280 32295 32951)	uc002blv.1		NA																	0				central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						c.(5791-5793)GAC>AAC		A-kinase anchor protein 13 isoform 2							148.0	123.0	132.0					15																	86260576		2202	4299	6501	SO:0001583	missense	11214				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|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86260576G>A	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.5791G>A	15.37:g.86260576G>A	ENSP00000378026:p.Asp1931Asn					AKAP13_uc002blu.1_Missense_Mutation_p.D1935N|AKAP13_uc010bnf.1_Missense_Mutation_p.D552N|AKAP13_uc002blw.1_Missense_Mutation_p.D398N|AKAP13_uc002blx.1_Missense_Mutation_p.D176N	p.D1931N	NM_007200	NP_009131	Q12802	AKP13_HUMAN			21	5961	+			1931			Interaction with ESR1.		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.5791G>A	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	G	36	5.621250	0.96660	.	.	ENSG00000170776	ENST00000426424;ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	T;T;T	0.35236	2.21;2.26;1.32	6.02	6.02	0.97574	.	.	.	.	.	T	0.65080	0.2657	M	0.80982	2.52	0.52099	D	0.999945	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	T	0.64214	-0.6460	9	0.51188	T	0.08	.	19.5352	0.95251	0.0:0.0:1.0:0.0	.	1913;1931;1935	Q12802-4;Q12802;Q12802-2	.;AKP13_HUMAN;.	N	13;1935;1931;1934;1912;176	ENSP00000354718:D1935N;ENSP00000378026:D1931N;ENSP00000378018:D176N	ENSP00000354718:D1935N	D	+	1	0	AKAP13	84061580	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.281000	0.95811	2.850000	0.98022	0.650000	0.86243	GAC		0.378	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		26	39	0	0	0	0	26	39				
ZNF263	10127	broad.mit.edu	37	16	3340026	3340026	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr16:3340026G>A	ENST00000219069.5	+	6	2396	c.1520G>A	c.(1519-1521)cGg>cAg	p.R507Q	ZNF263_ENST00000538765.1_Missense_Mutation_p.R155Q	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	507					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						AACCTCCTTCGGCACCAGAGA	0.522																																						uc002cuq.2		NA																	0				skin(3)|ovary(1)	4						c.(1519-1521)CGG>CAG		zinc finger protein 263							61.0	58.0	59.0					16																	3340026		2197	4300	6497	SO:0001583	missense	10127				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3340026G>A	AC004232	CCDS10499.1	16p13.3	2013-01-09			ENSG00000006194	ENSG00000006194		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13056	protein-coding gene	gene with protein product		604191				9256059	Standard	NM_005741		Approved	FPM315, ZKSCAN12, ZSCAN44	uc002cuq.3	O14978	OTTHUMG00000129323	ENST00000219069.5:c.1520G>A	16.37:g.3340026G>A	ENSP00000219069:p.Arg507Gln					ZNF263_uc010uww.1_Missense_Mutation_p.R155Q|ZNF263_uc002cur.2_Missense_Mutation_p.R155Q	p.R507Q	NM_005741	NP_005732	O14978	ZN263_HUMAN			6	1852	+			507			C2H2-type 4.		B2R634|O43387|Q96H95	Missense_Mutation	SNP	ENST00000219069.5	37	c.1520G>A	CCDS10499.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.510471	0.27036	.	.	ENSG00000006194	ENST00000538765;ENST00000219069	T;T	0.26223	1.75;1.75	5.32	4.35	0.52113	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000019	T	0.28366	0.0701	L	0.27944	0.81	0.21915	N	0.999475	D	0.71674	0.998	P	0.56788	0.806	T	0.13415	-1.0510	10	0.12766	T	0.61	.	14.0603	0.64795	0.0:0.152:0.848:0.0	.	507	O14978	ZN263_HUMAN	Q	155;507	ENSP00000444497:R155Q;ENSP00000219069:R507Q	ENSP00000219069:R507Q	R	+	2	0	ZNF263	3280027	0.000000	0.05858	0.830000	0.32933	0.997000	0.91878	-0.005000	0.12855	1.604000	0.50143	0.655000	0.94253	CGG		0.522	ZNF263-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251463.2			20	58	0	0	0	0	20	58				
PDZD9	255762	broad.mit.edu	37	16	21995735	21995735	+	Silent	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr16:21995735C>A	ENST00000424898.2	-	4	710	c.648G>T	c.(646-648)gtG>gtT	p.V216V	PDZD9_ENST00000537222.2_Silent_p.V156V|PDZD9_ENST00000286143.6_Silent_p.V154V			Q8IXQ8	PDZD9_HUMAN	PDZ domain containing 9	216										breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						AAGGGGCCCTCACTTCTTTCT	0.433																																						uc002dka.1		NA																	0				pancreas(1)	1						c.(460-462)GTG>GTT		hypothetical protein LOC255762							247.0	230.0	236.0					16																	21995735		2198	4300	6498	SO:0001819	synonymous_variant	255762							g.chr16:21995735C>A	BC039562	CCDS10602.1, CCDS10602.2	16p12.1	2010-04-14	2010-04-14	2010-04-14	ENSG00000155714	ENSG00000155714			28740	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 65"""	C16orf65		12477932	Standard	NM_173806		Approved	MGC50721	uc021ter.1	Q8IXQ8	OTTHUMG00000131586	ENST00000424898.2:c.648G>T	16.37:g.21995735C>A							p.V154V	NM_173806	NP_776167	Q8IXQ8	PDZD9_HUMAN			5	779	-			216					F5GWW8	Silent	SNP	ENST00000424898.2	37	c.462G>T																																																																																					0.433	PDZD9-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000381652.1	NM_173806		164	349	1	0	6.73e-69	9.01e-69	164	349				
VWA3A	146177	broad.mit.edu	37	16	22130326	22130326	+	Missense_Mutation	SNP	C	C	A	rs376796525		TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr16:22130326C>A	ENST00000389398.5	+	12	1190	c.1094C>A	c.(1093-1095)gCg>gAg	p.A365E	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	365						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CCCTGTGAGGCGCTCACCTGC	0.612																																						uc010vbq.1		NA																	0				skin(1)	1						c.(1093-1095)GCG>GAG		von Willebrand factor A domain containing 3A							27.0	31.0	30.0					16																	22130326		2091	4231	6322	SO:0001583	missense	146177					extracellular region		g.chr16:22130326C>A	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.1094C>A	16.37:g.22130326C>A	ENSP00000374049:p.Ala365Glu					VWA3A_uc010bxd.2_5'Flank|VWA3A_uc010bxc.2_Missense_Mutation_p.A352E	p.A365E	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN		GBM - Glioblastoma multiforme(48;0.0439)	12	1190	+			365					A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	ENST00000389398.5	37	c.1094C>A	CCDS45441.1	.	.	.	.	.	.	.	.	.	.	C	0.799	-0.755998	0.03019	.	.	ENSG00000175267	ENST00000310694;ENST00000389398	T	0.11495	2.77	5.21	1.57	0.23409	.	0.511699	0.17763	N	0.162822	T	0.03564	0.0102	N	0.02391	-0.57	0.09310	N	0.999996	B	0.17268	0.021	B	0.14023	0.01	T	0.44159	-0.9346	10	0.22109	T	0.4	.	6.9258	0.24414	0.3525:0.5167:0.0:0.1308	.	365	A6NCI4	VWA3A_HUMAN	E	265;365	ENSP00000374049:A365E	ENSP00000308827:A265E	A	+	2	0	VWA3A	22037827	0.038000	0.19896	0.202000	0.23494	0.108000	0.19459	0.214000	0.17541	0.786000	0.33708	-0.293000	0.09583	GCG		0.612	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1			9	25	1	0	2.18e-05	2.36e-05	9	25				
CDH5	1003	broad.mit.edu	37	16	66426206	66426206	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr16:66426206C>A	ENST00000341529.3	+	7	1285	c.1137C>A	c.(1135-1137)ttC>ttA	p.F379L	CDH5_ENST00000563425.2_Missense_Mutation_p.F379L	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	379	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	TCTACCACTTCCAGCTGAAGG	0.552																																						uc002eom.3		NA																	0				ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6						c.(1135-1137)TTC>TTA		cadherin 5, type 2 preproprotein							94.0	91.0	92.0					16																	66426206		2201	4300	6501	SO:0001583	missense	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66426206C>A	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.1137C>A	16.37:g.66426206C>A	ENSP00000344115:p.Phe379Leu					CDH5_uc002eon.1_Missense_Mutation_p.F379L	p.F379L	NM_001795	NP_001786	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	7	1293	+		Ovarian(137;0.0955)	379			Cadherin 4.|Extracellular (Potential).		Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	c.1137C>A	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.812248	0.32053	.	.	ENSG00000179776	ENST00000341529;ENST00000379531;ENST00000539262	T	0.53423	0.62	5.97	4.9	0.64082	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.39963	0.1098	L	0.49571	1.57	0.80722	D	1	B	0.29341	0.242	B	0.37198	0.243	T	0.16837	-1.0389	9	0.05721	T	0.95	.	8.8108	0.34965	0.0:0.8071:0.0:0.1929	.	379	P33151	CADH5_HUMAN	L	379;379;120	ENSP00000344115:F379L	ENSP00000344115:F379L	F	+	3	2	CDH5	64983707	0.772000	0.28567	0.955000	0.39395	0.891000	0.51852	-0.091000	0.11146	1.280000	0.44463	0.655000	0.94253	TTC		0.552	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		67	120	1	0	1.27e-28	1.61e-28	67	120				
HYDIN	54768	broad.mit.edu	37	16	70852359	70852359	+	Silent	SNP	C	C	T	rs373475539		TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr16:70852359C>T	ENST00000393567.2	-	84	14694	c.14544G>A	c.(14542-14544)gcG>gcA	p.A4848A		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4848					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGGAGGCTGACGCAACTTGCC	0.547																																						uc002ezr.2		NA																	0				ovary(1)|skin(1)	2						c.(14539-14541)GCG>GCA		hydrocephalus inducing isoform a		C		0,3850		0,0,1925	15.0	18.0	17.0		14541	-11.7	0.0	16		17	1,8257		0,1,4128	no	coding-synonymous	HYDIN	NM_032821.2		0,1,6053	TT,TC,CC		0.0121,0.0,0.0083		4847/5121	70852359	1,12107	1925	4129	6054	SO:0001819	synonymous_variant	54768							g.chr16:70852359C>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.14544G>A	16.37:g.70852359C>T						HYDIN_uc010cfy.2_RNA	p.A4847A	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			84	14669	-		Ovarian(137;0.0654)	4848					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	c.14541G>A	CCDS59269.1																																																																																				0.547	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			12	15	0	0	0	0	12	15				
SHPK	23729	broad.mit.edu	37	17	3526640	3526640	+	Missense_Mutation	SNP	C	C	A	rs111475678		TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr17:3526640C>A	ENST00000225519.3	-	4	742	c.640G>T	c.(640-642)Gta>Tta	p.V214L		NM_013276.2	NP_037408	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	214					carbohydrate metabolic process (GO:0005975)|cellular response to interleukin-13 (GO:0035963)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|phosphorylation (GO:0016310)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|sedoheptulokinase activity (GO:0050277)			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		CACGTCTCTACGTTCCAGCTT	0.557																																						uc002fvz.1		NA																	0				ovary(1)	1						c.(640-642)GTA>TTA		carbohydrate kinase-like							148.0	131.0	137.0					17																	3526640		2203	4300	6503	SO:0001583	missense	23729				carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity	g.chr17:3526640C>A	AF163573	CCDS11030.1	17p13	2008-02-08	2008-02-08	2008-02-08	ENSG00000197417	ENSG00000197417	2.7.1.14		1492	protein-coding gene	gene with protein product		605060	"""carbohydrate kinase-like"""	CARKL		10673275, 18186520	Standard	NM_013276		Approved	SHK	uc002fvz.1	Q9UHJ6	OTTHUMG00000090694	ENST00000225519.3:c.640G>T	17.37:g.3526640C>A	ENSP00000225519:p.Val214Leu						p.V214L	NM_013276	NP_037408	Q9UHJ6	SHPK_HUMAN		COAD - Colon adenocarcinoma(5;0.0828)	4	743	-			214					B2R640|Q8WUH3	Missense_Mutation	SNP	ENST00000225519.3	37	c.640G>T	CCDS11030.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.646884	0.00792	.	.	ENSG00000197417	ENST00000225519	T	0.45276	0.9	5.15	-3.35	0.04928	Carbohydrate kinase, FGGY, N-terminal (1);	1.565650	0.03570	N	0.228463	T	0.12433	0.0302	N	0.00707	-1.245	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.08207	-1.0733	10	0.24483	T	0.36	-0.7289	3.2657	0.06864	0.1968:0.2008:0.0689:0.5335	.	214	Q9UHJ6	SHPK_HUMAN	L	214	ENSP00000225519:V214L	ENSP00000225519:V214L	V	-	1	0	SHPK	3473389	0.001000	0.12720	0.059000	0.19551	0.030000	0.12068	-0.389000	0.07342	-0.948000	0.03668	-1.331000	0.01271	GTA		0.557	SHPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207378.2			129	73	1	0	4.27e-56	5.68e-56	129	73				
TP53	7157	broad.mit.edu	37	17	7577574	7577574	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr17:7577574T>C	ENST00000269305.4	-	7	896	c.707A>G	c.(706-708)tAc>tGc	p.Y236C	TP53_ENST00000455263.2_Missense_Mutation_p.Y236C|TP53_ENST00000445888.2_Missense_Mutation_p.Y236C|TP53_ENST00000420246.2_Missense_Mutation_p.Y236C|TP53_ENST00000413465.2_Missense_Mutation_p.Y236C|TP53_ENST00000359597.4_Missense_Mutation_p.Y236C|TP53_ENST00000574684.1_5'UTR	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	236	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y236C(61)|p.0?(8)|p.?(5)|p.Y143C(5)|p.Y236del(4)|p.Y236S(3)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.H233_C242del10(1)|p.N235_Y236delNY(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)	GTTACACATGTAGTTGTAGTG	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		94	Substitution - Missense(69)|Deletion - In frame(9)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	p.Y236C(46)|p.Y236N(12)|p.Y236*(9)|p.Y236H(9)|p.0?(7)|p.Y236D(6)|p.Y236del(4)|p.Y236S(3)|p.Y236Y(2)|p.Y236fs*4(2)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.Y236fs*5(1)|p.H233fs*6(1)|p.Y236_M237insXX(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236_M237>*L(1)|p.H233_C242del10(1)|p.N235_Y236delNY(1)	breast(13)|ovary(13)|lung(9)|haematopoietic_and_lymphoid_tissue(7)|biliary_tract(6)|stomach(6)|oesophagus(6)|upper_aerodigestive_tract(5)|central_nervous_system(5)|urinary_tract(5)|pancreas(5)|prostate(4)|bone(4)|liver(2)|large_intestine(2)|soft_tissue(1)|endometrium(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM004907	TP53	M		c.(706-708)TAC>TGC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							126.0	100.0	109.0					17																	7577574		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577574T>C	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.707A>G	17.37:g.7577574T>C	ENSP00000269305:p.Tyr236Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.Y236C|TP53_uc002gih.2_Missense_Mutation_p.Y236C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y104C|TP53_uc010cng.1_Missense_Mutation_p.Y104C|TP53_uc002gii.1_Missense_Mutation_p.Y104C|TP53_uc010cnh.1_Missense_Mutation_p.Y236C|TP53_uc010cni.1_Missense_Mutation_p.Y236C|TP53_uc002gij.2_Missense_Mutation_p.Y236C|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.Y143C|TP53_uc002gio.2_Missense_Mutation_p.Y104C	p.Y236C	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	901	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	236		Y -> S (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.707A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.173261	0.57584	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99801	-6.81;-6.81;-6.81;-6.81;-6.81;-6.81;-6.81;-6.81	4.09	0.528	0.17089	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.335105	0.32884	N	0.005532	D	0.99582	0.9849	M	0.74258	2.255	0.44570	D	0.997534	D;D;D;D;D;D	0.89917	0.998;0.982;1.0;0.998;0.999;1.0	D;P;D;D;D;D	0.81914	0.974;0.898;0.99;0.985;0.992;0.995	D	0.99253	1.0888	10	0.87932	D	0	-12.7522	10.2884	0.43581	0.222:0.0:0.0:0.778	.	236;236;143;236;236;236	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	C	236;236;236;236;236;236;225;143;104;143	ENSP00000410739:Y236C;ENSP00000352610:Y236C;ENSP00000269305:Y236C;ENSP00000398846:Y236C;ENSP00000391127:Y236C;ENSP00000391478:Y236C;ENSP00000425104:Y104C;ENSP00000423862:Y143C	ENSP00000269305:Y236C	Y	-	2	0	TP53	7518299	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	1.502000	0.35704	0.034000	0.15491	0.379000	0.24179	TAC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		40	32	0	0	0	0	40	32				
RNFT1	51136	broad.mit.edu	37	17	58040557	58040557	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr17:58040557G>A	ENST00000305783.8	-	2	200	c.145C>T	c.(145-147)Cca>Tca	p.P49S	RP11-178C3.1_ENST00000591035.1_Intron|RP11-178C3.2_ENST00000586209.1_lincRNA|RNFT1_ENST00000442346.2_Missense_Mutation_p.P12S	NM_016125.3	NP_057209.3	Q5M7Z0	RNFT1_HUMAN	ring finger protein, transmembrane 1	49						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			CCAGTTCCTGGAGGACTGTGC	0.483																																						uc002iya.2		NA																	0					0						c.(145-147)CCA>TCA		PTD016 protein							107.0	93.0	98.0					17																	58040557		2203	4300	6503	SO:0001583	missense	51136					integral to membrane	zinc ion binding	g.chr17:58040557G>A	BC006971	CCDS11622.2	17q23.2	2013-01-09			ENSG00000189050	ENSG00000189050		"""RING-type (C3HC4) zinc fingers"""	30206	protein-coding gene	gene with protein product		615172				12477932	Standard	NM_016125		Approved	PTD016	uc002iya.3	Q5M7Z0	OTTHUMG00000148658	ENST00000305783.8:c.145C>T	17.37:g.58040557G>A	ENSP00000304670:p.Pro49Ser					uc002iye.1_5'Flank|RNFT1_uc002iyb.2_RNA|RNFT1_uc002iyc.2_5'UTR|RNFT1_uc010wop.1_Missense_Mutation_p.P49S|RNFT1_uc002iyd.3_Missense_Mutation_p.P49S	p.P49S	NM_016125	NP_057209	Q5M7Z0	RNFT1_HUMAN	Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)		2	238	-	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		49					Q8N7D0|Q96IZ9|Q9Y686	Missense_Mutation	SNP	ENST00000305783.8	37	c.145C>T	CCDS11622.2	.	.	.	.	.	.	.	.	.	.	G	8.460	0.855119	0.17106	.	.	ENSG00000189050	ENST00000305783;ENST00000442346	T	0.40476	1.03	5.24	-0.82	0.10826	.	0.995089	0.08157	N	0.989151	T	0.25158	0.0611	N	0.16307	0.4	0.09310	N	1	B;B;B	0.16603	0.018;0.018;0.001	B;B;B	0.14578	0.011;0.011;0.003	T	0.25117	-1.0141	10	0.25751	T	0.34	2.4776	9.1861	0.37172	0.5767:0.0:0.4233:0.0	.	49;49;49	B4DHL4;Q5M7Z0-2;Q5M7Z0	.;.;RNFT1_HUMAN	S	49;12	ENSP00000304670:P49S	ENSP00000304670:P49S	P	-	1	0	RNFT1	55395339	0.015000	0.18098	0.916000	0.36221	0.803000	0.45373	-0.037000	0.12164	-0.157000	0.11059	-0.229000	0.12294	CCA		0.483	RNFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308958.1	NM_016125		81	67	0	0	0	0	81	67				
FASN	2194	broad.mit.edu	37	17	80041948	80041948	+	Silent	SNP	G	G	A	rs368052188		TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr17:80041948G>A	ENST00000306749.2	-	29	5219	c.5001C>T	c.(4999-5001)ccC>ccT	p.P1667P	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1667	Enoyl reductase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GCGTCTCCCCGGGGCGCACCC	0.721																																					Colon(59;314 1043 11189 28578 32273)	uc002kdu.2		NA																	0				central_nervous_system(1)	1						c.(4999-5001)CCC>CCT		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	G		2,4182		0,2,2090	8.0	11.0	10.0		5001	-9.1	0.0	17		10	1,8253		0,1,4126	no	coding-synonymous	FASN	NM_004104.4		0,3,6216	AA,AG,GG		0.0121,0.0478,0.0241		1667/2512	80041948	3,12435	2092	4127	6219	SO:0001819	synonymous_variant	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80041948G>A	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.5001C>T	17.37:g.80041948G>A						FASN_uc002kdv.1_5'Flank	p.P1667P	NM_004104	NP_004095	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		29	5118	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		1667			Enoyl reductase (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	ENST00000306749.2	37	c.5001C>T	CCDS11801.1																																																																																				0.721	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		3	4	0	0	0	0	3	4				
LAMA1	284217	broad.mit.edu	37	18	6999495	6999495	+	Missense_Mutation	SNP	G	G	A	rs149937004		TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr18:6999495G>A	ENST00000389658.3	-	32	4705	c.4612C>T	c.(4612-4614)Cgg>Tgg	p.R1538W		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1538	Laminin EGF-like 17. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TCATCGCACCGGAGCCCCGAG	0.537																																						uc002knm.2		NA																	0				ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(4612-4614)CGG>TGG		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	G	TRP/ARG	3,4403	6.2+/-15.9	0,3,2200	43.0	37.0	39.0		4612	3.9	0.8	18	dbSNP_134	39	6,8594	5.0+/-18.6	0,6,4294	yes	missense	LAMA1	NM_005559.3	101	0,9,6494	AA,AG,GG		0.0698,0.0681,0.0692	probably-damaging	1538/3076	6999495	9,12997	2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6999495G>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.4612C>T	18.37:g.6999495G>A	ENSP00000374309:p.Arg1538Trp					LAMA1_uc010wzj.1_Missense_Mutation_p.R1014W	p.R1538W	NM_005559	NP_005550	P25391	LAMA1_HUMAN			32	4706	-		Colorectal(10;0.172)	1538			Laminin EGF-like 17.			Missense_Mutation	SNP	ENST00000389658.3	37	c.4612C>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538670	0.45176	6.81E-4	6.98E-4	ENSG00000101680	ENST00000389658	T	0.63417	-0.04	5.87	3.92	0.45320	EGF-like, laminin (3);	0.736603	0.12877	N	0.431764	T	0.79724	0.4495	M	0.90309	3.105	0.09310	N	1	D	0.76494	0.999	P	0.56916	0.809	T	0.72200	-0.4362	10	0.87932	D	0	.	14.2952	0.66308	0.0:0.1229:0.7642:0.1129	.	1538	P25391	LAMA1_HUMAN	W	1538	ENSP00000374309:R1538W	ENSP00000374309:R1538W	R	-	1	2	LAMA1	6989495	0.779000	0.28652	0.773000	0.31616	0.094000	0.18550	3.683000	0.54663	1.428000	0.47296	0.655000	0.94253	CGG		0.537	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		7	31	0	0	0	0	7	31				
CEP192	55125	broad.mit.edu	37	18	13069788	13069788	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr18:13069788A>T	ENST00000325971.8	+	25	4912	c.3319A>T	c.(3319-3321)Aaa>Taa	p.K1107*	CEP192_ENST00000506447.1_Nonsense_Mutation_p.K1703*|CEP192_ENST00000430049.2_Nonsense_Mutation_p.K1228*			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1107					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TCTACTCCTTAAACCTGGAGA	0.378																																						uc010xac.1		NA																	0				ovary(4)|pancreas(1)	5						c.(5107-5109)AAA>TAA		centrosomal protein 192kDa							97.0	100.0	99.0					18																	13069788		2203	4300	6503	SO:0001587	stop_gained	55125							g.chr18:13069788A>T	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.3319A>T	18.37:g.13069788A>T	ENSP00000317156:p.Lys1107*					CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Nonsense_Mutation_p.K1228*|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Nonsense_Mutation_p.K125*|CEP192_uc002krw.2_5'UTR	p.K1703*	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN			27	5187	+			1703					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Nonsense_Mutation	SNP	ENST00000325971.8	37	c.5107A>T		.	.	.	.	.	.	.	.	.	.	A	53	21.405699	0.99940	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	.	.	.	5.29	4.1	0.47936	.	0.377447	0.26048	N	0.026646	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-14.8711	10.7783	0.46363	0.698:0.302:0.0:0.0	.	.	.	.	X	1703;1107;1107;1228	.	ENSP00000317156:K1107X	K	+	1	0	CEP192	13059788	0.996000	0.38824	0.998000	0.56505	0.881000	0.50899	1.472000	0.35376	0.835000	0.34877	0.459000	0.35465	AAA		0.378	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		56	158	0	0	0	0	56	158				
SMAD4	4089	broad.mit.edu	37	18	48604809	48604809	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr18:48604809C>T	ENST00000342988.3	+	12	2169	c.1631C>T	c.(1630-1632)cCg>cTg	p.P544L	SMAD4_ENST00000588745.1_Missense_Mutation_p.P448L|SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Missense_Mutation_p.P544L	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	544	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CATACCATGCCGATTGCAGAC	0.463																																						uc010xdp.1		NA																	38	Whole gene deletion(36)|Unknown(2)	p.0?(35)|p.?(2)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369						c.(1630-1632)CCG>CTG		mothers against decapentaplegic homolog 4							75.0	78.0	77.0					18																	48604809		2203	4300	6503	SO:0001583	missense	4089	Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia			BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48604809C>T	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1631C>T	18.37:g.48604809C>T	ENSP00000341551:p.Pro544Leu					SMAD4_uc002lfb.3_Missense_Mutation_p.P389L	p.P544L	NM_005359	NP_005350	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	12	2169	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	544			MH2.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.1631C>T	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.139820	0.56936	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	D;D	0.97279	-4.32;-4.32	5.98	5.98	0.97165	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (1);	0.000000	0.85682	D	0.000000	D	0.96568	0.8880	M	0.80982	2.52	0.80722	D	1	B	0.26602	0.154	B	0.10450	0.005	D	0.94220	0.7466	10	0.49607	T	0.09	.	19.2148	0.93772	0.0:1.0:0.0:0.0	.	544	Q13485	SMAD4_HUMAN	L	544	ENSP00000341551:P544L;ENSP00000381452:P544L	ENSP00000341551:P544L	P	+	2	0	SMAD4	46858807	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.639000	0.83342	2.838000	0.97847	0.655000	0.94253	CCG		0.463	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		6	139	0	0	0	0	6	139				
SERPINB8	5271	broad.mit.edu	37	18	61654402	61654402	+	Missense_Mutation	SNP	C	C	T	rs150328649	byFrequency	TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr18:61654402C>T	ENST00000397985.2	+	7	1271	c.1015C>T	c.(1015-1017)Cgg>Tgg	p.R339W	SERPINB8_ENST00000493661.1_Intron|SERPINB8_ENST00000542677.1_Missense_Mutation_p.R157W|SERPINB8_ENST00000353706.2_Missense_Mutation_p.R339W	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	339		Reactive bond. {ECO:0000250}.			negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R339R(1)		breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				CAGGAATTCCCGGTGCAGCAG	0.532																																						uc002ljv.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1015-1017)CGG>TGG		serine (or cysteine) proteinase inhibitor, clade		C	TRP/ARG,TRP/ARG	5,4401	9.9+/-24.2	0,5,2198	76.0	74.0	75.0		1015,1015	4.8	0.0	18	dbSNP_134	75	0,8600		0,0,4300	yes	missense,missense	SERPINB8	NM_002640.3,NM_198833.1	101,101	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	probably-damaging,probably-damaging	339/375,339/375	61654402	5,13001	2203	4300	6503	SO:0001583	missense	5271				regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61654402C>T	L40377	CCDS11991.1, CCDS42442.1, CCDS62460.1	18q22.1	2014-02-18	2005-08-18		ENSG00000166401	ENSG00000166401		"""Serine (or cysteine) peptidase inhibitors"""	8952	protein-coding gene	gene with protein product	"""cytoplasmic antiproteinase 2"""	601697	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8"""	PI8		8530382, 9268635, 24172014	Standard	NM_198833		Approved	CAP2	uc002lju.3	P50452	OTTHUMG00000060596	ENST00000397985.2:c.1015C>T	18.37:g.61654402C>T	ENSP00000381072:p.Arg339Trp					SERPINB8_uc002lju.2_Missense_Mutation_p.R339W|SERPINB8_uc010xex.1_Missense_Mutation_p.R157W	p.R339W	NM_198833	NP_942130	P50452	SPB8_HUMAN			7	1184	+		Esophageal squamous(42;0.129)	339				Reactive bond (By similarity).	B4DTW2|Q7Z2V6|Q8N178	Missense_Mutation	SNP	ENST00000397985.2	37	c.1015C>T	CCDS11991.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.559120	0.65538	0.001135	0.0	ENSG00000166401	ENST00000397985;ENST00000353706;ENST00000542677	D;D;T	0.83837	-1.77;-1.77;2.66	5.65	4.78	0.61160	Serpin domain (3);	0.205916	0.52532	D	0.000077	D	0.93106	0.7805	H	0.96333	3.805	0.09310	N	0.999993	D	0.76494	0.999	D	0.64877	0.93	D	0.87981	0.2743	10	0.38643	T	0.18	.	15.3514	0.74389	0.1403:0.8597:0.0:0.0	.	339	P50452	SPB8_HUMAN	W	339;339;157	ENSP00000381072:R339W;ENSP00000331368:R339W;ENSP00000438328:R157W	ENSP00000331368:R339W	R	+	1	2	SERPINB8	59805382	0.004000	0.15560	0.033000	0.17914	0.402000	0.30811	-0.039000	0.12124	1.623000	0.50342	-0.152000	0.13540	CGG		0.532	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134014.1	NM_001031848		19	59	0	0	0	0	19	59				
CDH7	1005	broad.mit.edu	37	18	63511092	63511092	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr18:63511092A>T	ENST00000397968.2	+	7	1452	c.1026A>T	c.(1024-1026)gaA>gaT	p.E342D	CDH7_ENST00000536984.2_Missense_Mutation_p.E342D|CDH7_ENST00000323011.3_Missense_Mutation_p.E342D	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	342	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TACGGATAGAAGCTGCAAATA	0.443																																						uc002ljz.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1024-1026)GAA>GAT		cadherin 7, type 2 preproprotein							118.0	110.0	113.0					18																	63511092		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63511092A>T	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1026A>T	18.37:g.63511092A>T	ENSP00000381058:p.Glu342Asp					CDH7_uc002lka.2_Missense_Mutation_p.E342D|CDH7_uc002lkb.2_Missense_Mutation_p.E342D	p.E342D	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN			7	1351	+		Esophageal squamous(42;0.129)	342			Extracellular (Potential).|Cadherin 3.		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.1026A>T	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	A	19.24	3.790328	0.70337	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.39229	1.09;1.09;1.09	5.04	2.64	0.31445	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.63474	0.2514	M	0.87180	2.865	0.53005	D	0.999963	B;D	0.62365	0.209;0.991	B;D	0.72982	0.134;0.979	T	0.63102	-0.6712	10	0.56958	D	0.05	.	7.9526	0.30023	0.7734:0.0:0.2266:0.0	.	342;342	F5H5X9;Q9ULB5	.;CADH7_HUMAN	D	342	ENSP00000319166:E342D;ENSP00000443030:E342D;ENSP00000381058:E342D	ENSP00000319166:E342D	E	+	3	2	CDH7	61662072	0.997000	0.39634	1.000000	0.80357	0.990000	0.78478	0.621000	0.24418	0.476000	0.27440	0.533000	0.62120	GAA		0.443	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		47	95	0	0	0	0	47	95				
CDH7	1005	broad.mit.edu	37	18	63529970	63529970	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr18:63529970C>T	ENST00000397968.2	+	11	2107	c.1681C>T	c.(1681-1683)Cca>Tca	p.P561S	RP11-389J22.1_ENST00000581987.1_RNA|CDH7_ENST00000536984.2_Missense_Mutation_p.P561S|CDH7_ENST00000323011.3_Missense_Mutation_p.P561S	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	561	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TTACTATCTGCCAATTTTCAT	0.498																																						uc002ljz.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1681-1683)CCA>TCA		cadherin 7, type 2 preproprotein							145.0	117.0	127.0					18																	63529970		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63529970C>T	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1681C>T	18.37:g.63529970C>T	ENSP00000381058:p.Pro561Ser					CDH7_uc002lka.2_Missense_Mutation_p.P561S|CDH7_uc002lkb.2_Missense_Mutation_p.P561S	p.P561S	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN			11	2006	+		Esophageal squamous(42;0.129)	561			Extracellular (Potential).|Cadherin 5.		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.1681C>T	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.149735	0.78001	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.48522	0.81;0.81;0.81	5.37	5.37	0.77165	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.68833	0.3044	M	0.67700	2.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.70342	-0.4898	10	0.59425	D	0.04	.	19.0909	0.93227	0.0:1.0:0.0:0.0	.	561;561	F5H5X9;Q9ULB5	.;CADH7_HUMAN	S	561	ENSP00000319166:P561S;ENSP00000443030:P561S;ENSP00000381058:P561S	ENSP00000319166:P561S	P	+	1	0	CDH7	61680950	1.000000	0.71417	0.991000	0.47740	0.476000	0.33039	7.792000	0.85828	2.528000	0.85240	0.591000	0.81541	CCA		0.498	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		26	74	0	0	0	0	26	74				
ZNF516	9658	broad.mit.edu	37	18	74154265	74154265	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr18:74154265G>A	ENST00000443185.2	-	3	1063	c.746C>T	c.(745-747)cCg>cTg	p.P249L	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	249					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CACCTCGCACGGGAACTCCCC	0.687																																						uc010dqx.1		NA																	0				ovary(1)	1						c.(745-747)CCG>CTG		zinc finger protein 516							13.0	16.0	15.0					18																	74154265		2014	4189	6203	SO:0001583	missense	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74154265G>A	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.746C>T	18.37:g.74154265G>A	ENSP00000394757:p.Pro249Leu					ZNF516_uc002lme.2_RNA	p.P249L	NM_014643	NP_055458	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	2	981	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	249			C2H2-type 5.			Missense_Mutation	SNP	ENST00000443185.2	37	c.746C>T		.	.	.	.	.	.	.	.	.	.	G	18.48	3.633552	0.67015	.	.	ENSG00000101493	ENST00000443185	T	0.52057	0.68	4.52	4.52	0.55395	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.072450	0.56097	D	0.000028	T	0.68072	0.2961	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72050	-0.4407	9	0.72032	D	0.01	-6.8067	13.5253	0.61591	0.0:0.1564:0.8436:0.0	.	249	Q92618	ZN516_HUMAN	L	249	ENSP00000394757:P249L	ENSP00000394757:P249L	P	-	2	0	ZNF516	72283253	1.000000	0.71417	0.964000	0.40570	0.849000	0.48306	5.905000	0.69893	2.508000	0.84585	0.650000	0.86243	CCG		0.687	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		16	34	0	0	0	0	16	34				
SALL3	27164	broad.mit.edu	37	18	76754386	76754386	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr18:76754386G>A	ENST00000537592.2	+	2	2395	c.2395G>A	c.(2395-2397)Gac>Aac	p.D799N	SALL3_ENST00000575389.2_Missense_Mutation_p.D799N|SALL3_ENST00000536229.3_Missense_Mutation_p.D666N	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	799				DDDMDE -> NDNLDK (in Ref. 2; CAB65124). {ECO:0000305}.	forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|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(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CTACGATGACGACATGGACGA	0.662																																						uc002lmt.2		NA																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(2395-2397)GAC>AAC		sal-like 3							61.0	61.0	61.0					18																	76754386		2201	4300	6501	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76754386G>A	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.2395G>A	18.37:g.76754386G>A	ENSP00000441823:p.Asp799Asn					SALL3_uc010dra.2_Missense_Mutation_p.D406N	p.D799N	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	2395	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	799	DDDMDE -> NDNLDK (in Ref. 2; CAB65124).				Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.2395G>A	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.361513	0.24684	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.10288	2.89	5.3	5.3	0.74995	.	0.000000	0.64402	D	0.000013	T	0.26702	0.0653	M	0.74258	2.255	0.80722	D	1	D;D	0.69078	0.994;0.997	P;P	0.54372	0.75;0.669	T	0.02698	-1.1122	10	0.22706	T	0.39	-57.086	18.9687	0.92707	0.0:0.0:1.0:0.0	.	531;799	F5GXY4;Q9BXA9	.;SALL3_HUMAN	N	799;799;531	ENSP00000441823:D799N	ENSP00000299466:D799N	D	+	1	0	SALL3	74855374	1.000000	0.71417	0.109000	0.21407	0.426000	0.31534	7.797000	0.85911	2.477000	0.83638	0.561000	0.74099	GAC		0.662	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		15	47	0	0	0	0	15	47				
MUC16	94025	broad.mit.edu	37	19	9014654	9014654	+	Missense_Mutation	SNP	C	C	T	rs548938808	byFrequency	TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr19:9014654C>T	ENST00000397910.4	-	31	38524	c.38321G>A	c.(38320-38322)cGt>cAt	p.R12774H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12776	SEA 5. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGGTCAAGACGGTGGGTGCA	0.567													-|||	2	0.000399361	0.0008	0.0	5008	,	,		18194	0.0		0.0	False		,,,				2504	0.001					uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(38320-38322)CGT>CAT		mucin 16							66.0	53.0	57.0					19																	9014654		1809	4040	5849	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9014654C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38321G>A	19.37:g.9014654C>T	ENSP00000381008:p.Arg12774His					MUC16_uc010xki.1_5'Flank	p.R12774H	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			31	38525	-			12776	Missing (in Ref. 3; AAK74120).		SEA 5.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.38321G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	10.56	1.385079	0.25031	.	.	ENSG00000181143	ENST00000397910	T	0.29397	1.57	3.03	-5.32	0.02722	.	.	.	.	.	T	0.20700	0.0498	L	0.37630	1.12	.	.	.	B	0.06786	0.001	B	0.04013	0.001	T	0.24083	-1.0170	8	0.87932	D	0	.	8.6369	0.33953	0.0:0.3055:0.0:0.6945	.	12774	B5ME49	.	H	12774	ENSP00000381008:R12774H	ENSP00000381008:R12774H	R	-	2	0	MUC16	8875654	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.947000	0.00328	-1.202000	0.02655	-1.872000	0.00552	CGT		0.567	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		13	56	0	0	0	0	13	56				
ICAM1	3383	broad.mit.edu	37	19	10394262	10394262	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr19:10394262T>A	ENST00000264832.3	+	3	762	c.437T>A	c.(436-438)cTc>cAc	p.L146H	ICAM1_ENST00000423829.2_Intron|ICAM1_ENST00000585443.1_3'UTR|CTD-2369P2.5_ENST00000592893.1_RNA|CTD-2369P2.8_ENST00000589379.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	146	Ig-like C2-type 2.				adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	CGGGCCAACCTCACCGTGGTG	0.667																																						uc002mnq.2		NA																	0				ovary(1)	1						c.(436-438)CTC>CAC		intercellular adhesion molecule 1 precursor	Natalizumab(DB00108)|Simvastatin(DB00641)						28.0	30.0	29.0					19																	10394262		2203	4300	6503	SO:0001583	missense	3383				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	g.chr19:10394262T>A		CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5344	protein-coding gene	gene with protein product	"""human rhinovirus receptor"""	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.437T>A	19.37:g.10394262T>A	ENSP00000264832:p.Leu146His					ICAM1_uc010xle.1_Intron	p.L146H	NM_000201	NP_000192	P05362	ICAM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		3	756	+			146			Ig-like C2-type 2.|Extracellular (Potential).		B2R6M3|Q5NKV7|Q96B50	Missense_Mutation	SNP	ENST00000264832.3	37	c.437T>A	CCDS12231.1	.	.	.	.	.	.	.	.	.	.	T	12.17	1.856828	0.32791	.	.	ENSG00000090339	ENST00000264832	T	0.07567	3.18	4.11	4.11	0.48088	Intercellular adhesion molecule/vascular cell adhesion molecule, N-terminal (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000005	T	0.33294	0.0858	M	0.90922	3.16	0.42298	D	0.992163	D	0.89917	1.0	D	0.97110	1.0	T	0.28427	-1.0044	10	0.87932	D	0	-30.9124	9.6655	0.39981	0.0:0.0:0.0:1.0	.	146	P05362	ICAM1_HUMAN	H	146	ENSP00000264832:L146H	ENSP00000264832:L146H	L	+	2	0	ICAM1	10255262	0.495000	0.26051	0.111000	0.21465	0.019000	0.09904	3.844000	0.55873	1.853000	0.53794	0.418000	0.28097	CTC		0.667	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1			8	50	0	0	0	0	8	50				
MYO9B	4650	broad.mit.edu	37	19	17283733	17283733	+	Missense_Mutation	SNP	G	G	A	rs199630006		TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr19:17283733G>A	ENST00000594824.1	+	13	2248	c.2101G>A	c.(2101-2103)Gcc>Acc	p.A701T	MYO9B_ENST00000397274.2_Missense_Mutation_p.A701T|MYO9B_ENST00000595618.1_Missense_Mutation_p.A701T			Q13459	MYO9B_HUMAN	myosin IXB	701	Myosin motor.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GCTTCGGGAGGCCGGACGCCT	0.687																																						uc010eak.2		NA																	0				breast(1)	1						c.(2101-2103)GCC>ACC		myosin IXB isoform 1		G	THR/ALA,THR/ALA	2,4012		0,2,2005	24.0	28.0	27.0		2101,2101	4.5	1.0	19		27	4,8320		0,4,4158	no	missense,missense	MYO9B	NM_001130065.1,NM_004145.3	58,58	0,6,6163	AA,AG,GG		0.0481,0.0498,0.0486	probably-damaging,probably-damaging	701/2023,701/2158	17283733	6,12332	2007	4162	6169	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17283733G>A		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.2101G>A	19.37:g.17283733G>A	ENSP00000471367:p.Ala701Thr					MYO9B_uc002nfi.2_Missense_Mutation_p.A701T|MYO9B_uc002nfj.1_Missense_Mutation_p.A701T	p.A701T	NM_004145	NP_004136	Q13459	MYO9B_HUMAN			13	2253	+			701			Myosin head-like.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.2101G>A		.	.	.	.	.	.	.	.	.	.	G	25.9	4.683920	0.88639	4.98E-4	4.81E-4	ENSG00000099331	ENST00000397274	D	0.85629	-2.01	4.51	4.51	0.55191	Myosin head, motor domain (2);	0.000000	0.53938	D	0.000041	D	0.89424	0.6711	L	0.43757	1.38	0.47511	D	0.999448	D;D;D	0.89917	0.994;0.994;1.0	D;D;D	0.97110	0.987;0.987;1.0	D	0.90798	0.4692	10	0.87932	D	0	.	16.166	0.81757	0.0:0.0:1.0:0.0	.	701;701;707	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	T	701	ENSP00000380444:A701T	ENSP00000380444:A701T	A	+	1	0	MYO9B	17144733	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	7.687000	0.84139	2.218000	0.71995	0.655000	0.94253	GCC		0.687	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			4	33	0	0	0	0	4	33				
UPF1	5976	broad.mit.edu	37	19	18958606	18958606	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr19:18958606A>G	ENST00000599848.1	+	3	634	c.425A>G	c.(424-426)aAg>aGg	p.K142R	UPF1_ENST00000262803.5_Missense_Mutation_p.K142R			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	142	Sufficient for interaction with RENT2.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						ACCAGCAAGAAGTGGTTCTGC	0.428											OREG0025373	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002nkg.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(424-426)AAG>AGG		regulator of nonsense transcripts 1							137.0	124.0	128.0					19																	18958606		2203	4300	6503	SO:0001583	missense	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding	g.chr19:18958606A>G	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.425A>G	19.37:g.18958606A>G	ENSP00000470142:p.Lys142Arg		OREG0025373	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	729	UPF1_uc002nkf.2_Missense_Mutation_p.K142R	p.K142R	NM_002911	NP_002902	Q92900	RENT1_HUMAN			3	700	+			142			C2H2-type; atypical.|Sufficient for interaction with RENT2.		O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37	c.425A>G		.	.	.	.	.	.	.	.	.	.	A	19.60	3.858620	0.71834	.	.	ENSG00000005007	ENST00000262803	D	0.91351	-2.83	5.48	5.48	0.80851	RNA helicase UPF1, UPF2-interacting domain (1);	0.000000	0.85682	D	0.000000	D	0.90817	0.7116	L	0.54965	1.715	0.80722	D	1	B;B	0.29862	0.259;0.219	B;B	0.40782	0.34;0.229	D	0.90031	0.4135	10	0.56958	D	0.05	-49.0003	14.725	0.69339	1.0:0.0:0.0:0.0	.	142;142	Q92900;Q92900-2	RENT1_HUMAN;.	R	142	ENSP00000262803:K142R	ENSP00000262803:K142R	K	+	2	0	UPF1	18819606	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.895000	0.92512	2.083000	0.62718	0.533000	0.62120	AAG		0.428	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		17	99	0	0	0	0	17	99				
LGALS7B	653499	broad.mit.edu	37	19	39281521	39281521	+	Silent	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr19:39281521C>T	ENST00000314980.4	+	3	304	c.288C>T	c.(286-288)gaC>gaT	p.D96D		NM_001042507.3	NP_001035972.1	P47929	LEG7_HUMAN	lectin, galactoside-binding, soluble, 7B	96	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|heterophilic cell-cell adhesion (GO:0007157)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carbohydrate binding (GO:0030246)										CGTCAGACGACGGCTTCAAGG	0.657																																						uc002ojf.3		NA																	0					0						c.(286-288)GAC>GAT		galectin-7B							6.0	6.0	6.0					19																	39281521		2053	3967	6020	SO:0001819	synonymous_variant	653499				apoptosis|heterophilic cell-cell adhesion	cytoplasm|extracellular space|nucleus	sugar binding	g.chr19:39281521C>T		CCDS42565.1	19q13.2	2011-08-04			ENSG00000178934	ENSG00000178934		"""Lectins, galactoside-binding"""	34447	protein-coding gene	gene with protein product	"""galectin 7B"""						Standard	NM_001042507		Approved	GAL7	uc002ojf.4	P47929		ENST00000314980.4:c.288C>T	19.37:g.39281521C>T							p.D96D	NM_001042507	NP_001035972	P47929	LEG7_HUMAN			3	305	+			96			Galectin.		Q6IB87	Silent	SNP	ENST00000314980.4	37	c.288C>T	CCDS42565.1																																																																																				0.657	LGALS7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462638.1			5	14	0	0	0	0	5	14				
FBL	2091	broad.mit.edu	37	19	40327295	40327295	+	Silent	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr19:40327295C>A	ENST00000221801.3	-	7	809	c.696G>T	c.(694-696)gtG>gtT	p.V232V	DYRK1B_ENST00000601972.1_5'Flank|DYRK1B_ENST00000348817.3_5'Flank|DYRK1B_ENST00000323039.5_5'Flank|FBL_ENST00000593503.1_5'UTR|DYRK1B_ENST00000430012.2_5'Flank	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	232					histone glutamine methylation (GO:1990258)|osteoblast differentiation (GO:0001649)|rRNA processing (GO:0006364)|snoRNA metabolic process (GO:0016074)|tRNA processing (GO:0008033)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone-glutamine methyltransferase activity (GO:1990259)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		CAGCAAAGATCACATCCACCA	0.537																																						uc002omn.2		NA																	0				ovary(1)	1						c.(694-696)GTG>GTT		fibrillarin							102.0	85.0	91.0					19																	40327295		2203	4300	6503	SO:0001819	synonymous_variant	2091				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding	g.chr19:40327295C>A	AC005393	CCDS12545.1	19q13.1	2010-02-17			ENSG00000105202	ENSG00000105202			3599	protein-coding gene	gene with protein product		134795				1846968, 2026646	Standard	NM_001436		Approved	RNU3IP1, FLRN, FIB	uc002omn.3	P22087		ENST00000221801.3:c.696G>T	19.37:g.40327295C>A						DYRK1B_uc002omi.2_5'Flank|DYRK1B_uc002omj.2_5'Flank|DYRK1B_uc002omk.2_5'Flank|DYRK1B_uc002oml.2_5'Flank|FBL_uc002omm.1_Silent_p.V146V|FBL_uc002omo.2_Silent_p.V231V	p.V232V	NM_001436	NP_001427	P22087	FBRL_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)	7	810	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	232					B5BUE8|O75259|Q6IAT5|Q9UPI6	Silent	SNP	ENST00000221801.3	37	c.696G>T	CCDS12545.1																																																																																				0.537	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462509.4	NM_001436		21	37	1	0	2.38e-13	2.82e-13	21	37				
KCNC3	3748	broad.mit.edu	37	19	50826517	50826517	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr19:50826517G>A	ENST00000477616.1	-	2	1987	c.1693C>T	c.(1693-1695)Cgg>Tgg	p.R565W	KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000376959.2_Missense_Mutation_p.R565W	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	565					cell death (GO:0008219)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axolemma (GO:0030673)|axon terminus (GO:0043679)|dendrite membrane (GO:0032590)|neuromuscular junction (GO:0031594)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	Dalfampridine(DB06637)	TGCGGGGGCCGGGGGATGTGT	0.662																																					Melanoma(91;1496 2324 50908)	uc002pru.1		NA																	0				pancreas(1)	1						c.(1693-1695)CGG>TGG		Shaw-related voltage-gated potassium channel							38.0	35.0	36.0					19																	50826517		2203	4299	6502	SO:0001583	missense	3748				cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:50826517G>A	AB208930	CCDS12793.1	19q13.33	2014-09-17			ENSG00000131398	ENSG00000131398		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6235	protein-coding gene	gene with protein product		176264	"""spinocerebellar ataxia 13"""	SCA13		1740329, 8111118, 16382104	Standard	NM_004977		Approved	Kv3.3	uc002pru.1	Q14003	OTTHUMG00000044580	ENST00000477616.1:c.1693C>T	19.37:g.50826517G>A	ENSP00000434241:p.Arg565Trp					KCNC3_uc002prt.1_Missense_Mutation_p.R201W	p.R565W	NM_004977	NP_004968	Q14003	KCNC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	2	1988	-		all_neural(266;0.057)|Ovarian(192;0.208)	565			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000477616.1	37	c.1693C>T	CCDS12793.1	.	.	.	.	.	.	.	.	.	.	G	5.702	0.314069	0.10789	.	.	ENSG00000131398	ENST00000376959;ENST00000477616;ENST00000443843	D;D	0.98150	-4.75;-4.75	3.22	0.86	0.19042	.	.	.	.	.	D	0.93514	0.7930	L	0.39898	1.24	0.80722	D	1	B;B	0.32939	0.391;0.391	B;B	0.23852	0.049;0.031	D	0.88654	0.3184	9	0.87932	D	0	.	6.8204	0.23855	0.0:0.1861:0.6052:0.2086	.	565;565	Q14003;E7ETH1	KCNC3_HUMAN;.	W	565;565;379	ENSP00000366158:R565W;ENSP00000434241:R565W	ENSP00000366158:R565W	R	-	1	2	KCNC3	55518329	1.000000	0.71417	0.975000	0.42487	0.002000	0.02628	1.962000	0.40442	0.155000	0.19261	-0.502000	0.04539	CGG		0.662	KCNC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314288.2	NM_004977		16	8	0	0	0	0	16	8				
ZNF419	79744	broad.mit.edu	37	19	58005043	58005043	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr19:58005043G>A	ENST00000221735.7	+	5	1304	c.1118G>A	c.(1117-1119)tGc>tAc	p.C373Y	ZNF419_ENST00000415379.2_Missense_Mutation_p.C327Y|ZNF419_ENST00000424930.2_Missense_Mutation_p.C374Y|ZNF419_ENST00000354197.4_Missense_Mutation_p.C361Y|ZNF419_ENST00000347466.6_Missense_Mutation_p.C341Y|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000442920.2_Missense_Mutation_p.C360Y|ZNF419_ENST00000426954.2_Missense_Mutation_p.C361Y			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	373					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		CCTTACAAGTGCAGCGACTGT	0.413																																						uc002qov.2		NA																	0					0						c.(1117-1119)TGC>TAC		zinc finger protein 419 isoform 2							82.0	86.0	84.0					19																	58005043		2202	4299	6501	SO:0001583	missense	79744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58005043G>A	AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"""Zinc fingers, C2H2-type"", ""-"""	20648	protein-coding gene	gene with protein product			"""zinc finger protein 419A"""	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.1118G>A	19.37:g.58005043G>A	ENSP00000221735:p.Cys373Tyr					ZNF547_uc002qpm.3_Intron|ZNF419_uc010ety.1_Missense_Mutation_p.C374Y|ZNF419_uc010etz.1_Missense_Mutation_p.C361Y|ZNF419_uc010eua.1_Missense_Mutation_p.C360Y|ZNF419_uc002qow.2_Missense_Mutation_p.C341Y|ZNF419_uc010eub.1_Missense_Mutation_p.C328Y|ZNF419_uc010euc.1_Missense_Mutation_p.C327Y	p.C373Y	NM_024691	NP_078967	Q96HQ0	ZN419_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)	5	1358	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)	373			C2H2-type 7.		B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Missense_Mutation	SNP	ENST00000221735.7	37	c.1118G>A	CCDS54326.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.768069	0.31320	.	.	ENSG00000105136	ENST00000284020;ENST00000424930;ENST00000426954;ENST00000354197;ENST00000442920;ENST00000517598;ENST00000347466;ENST00000415379;ENST00000221735	D;D;D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94	2.26	2.26	0.28386	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93966	0.8068	H	0.96208	3.785	0.44976	D	0.997996	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.999;1.0;0.999;1.0;0.999;1.0	D	0.94598	0.7793	9	0.87932	D	0	.	11.559	0.50766	0.0:0.0:1.0:0.0	.	327;327;360;361;374;341;373	E9PFX9;B4DXU7;E9PCP4;E9PET3;E9PED0;Q96HQ0-2;Q96HQ0	.;.;.;.;.;.;ZN419_HUMAN	Y	348;374;361;361;360;374;341;327;373	ENSP00000388864:C374Y;ENSP00000390916:C361Y;ENSP00000346136:C361Y;ENSP00000414709:C360Y;ENSP00000299860:C341Y;ENSP00000392129:C327Y;ENSP00000221735:C373Y	ENSP00000221735:C373Y	C	+	2	0	ZNF419	62696855	1.000000	0.71417	0.029000	0.17559	0.091000	0.18340	7.983000	0.88140	1.237000	0.43756	0.313000	0.20887	TGC		0.413	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378506.1	NM_024691		61	98	0	0	0	0	61	98				
TTC27	55622	broad.mit.edu	37	2	32891707	32891707	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:32891707T>A	ENST00000317907.4	+	7	1042	c.811T>A	c.(811-813)Ttg>Atg	p.L271M		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	271										breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						TTCAGGTGCTTTGGGAAAAAG	0.368																																						uc002rom.2		NA																	0				central_nervous_system(1)	1						c.(811-813)TTG>ATG		tetratricopeptide repeat domain 27							102.0	108.0	106.0					2																	32891707		2203	4300	6503	SO:0001583	missense	55622						protein binding	g.chr2:32891707T>A	BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"""Tetratricopeptide (TTC) repeat domain containing"""	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.811T>A	2.37:g.32891707T>A	ENSP00000313953:p.Leu271Met					TTC27_uc010ymx.1_Missense_Mutation_p.L221M	p.L271M	NM_017735	NP_060205	Q6P3X3	TTC27_HUMAN			7	1042	+			271					A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Missense_Mutation	SNP	ENST00000317907.4	37	c.811T>A	CCDS33176.1	.	.	.	.	.	.	.	.	.	.	T	17.36	3.370863	0.61624	.	.	ENSG00000018699	ENST00000317907	T	0.69435	-0.4	5.83	4.68	0.58851	.	0.000000	0.64402	D	0.000001	T	0.72961	0.3526	M	0.71206	2.165	0.49687	D	0.999817	D	0.64830	0.994	P	0.55871	0.786	T	0.71461	-0.4586	10	0.36615	T	0.2	-0.8942	8.6749	0.34174	0.0:0.1537:0.0:0.8463	.	271	Q6P3X3	TTC27_HUMAN	M	271	ENSP00000313953:L271M	ENSP00000313953:L271M	L	+	1	2	TTC27	32745211	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.489000	0.53237	1.048000	0.40298	0.533000	0.62120	TTG		0.368	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325395.1	NM_017735		57	101	0	0	0	0	57	101				
EPAS1	2034	broad.mit.edu	37	2	46603862	46603862	+	Missense_Mutation	SNP	C	C	A	rs547654664		TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:46603862C>A	ENST00000263734.3	+	9	1729	c.1219C>A	c.(1219-1221)Cca>Aca	p.P407T		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	407					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GGCTCCCACCCCAGGAGACGC	0.562																																						uc002ruv.2		NA																	0				ovary(1)|skin(1)	2						c.(1219-1221)CCA>ACA		endothelial PAS domain protein 1							58.0	63.0	61.0					2																	46603862		2203	4300	6503	SO:0001583	missense	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46603862C>A	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1219C>A	2.37:g.46603862C>A	ENSP00000263734:p.Pro407Thr					EPAS1_uc002ruw.2_5'Flank	p.P407T	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		9	1707	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	407					Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	c.1219C>A	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.603873	0.46423	.	.	ENSG00000116016	ENST00000263734	T	0.53857	0.6	5.38	1.28	0.21552	.	1.282320	0.05281	N	0.519349	T	0.70911	0.3278	M	0.76574	2.34	0.58432	D	0.999994	P	0.45715	0.865	P	0.52957	0.714	T	0.68934	-0.5278	10	0.66056	D	0.02	.	18.6319	0.91363	0.0:0.717:0.283:0.0	.	407	Q99814	EPAS1_HUMAN	T	407	ENSP00000263734:P407T	ENSP00000263734:P407T	P	+	1	0	EPAS1	46457366	0.906000	0.30813	0.036000	0.18154	0.826000	0.46750	1.860000	0.39428	0.221000	0.20879	0.462000	0.41574	CCA		0.562	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		80	188	1	0	2.67e-37	3.49e-37	80	188				
RTN4	57142	broad.mit.edu	37	2	55252252	55252252	+	Missense_Mutation	SNP	T	T	C	rs201229603		TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:55252252T>C	ENST00000337526.6	-	3	3226	c.2983A>G	c.(2983-2985)Ata>Gta	p.I995V	RTN4_ENST00000357732.4_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000394611.2_Missense_Mutation_p.I789V|RTN4_ENST00000357376.3_Missense_Mutation_p.I789V|RTN4_ENST00000405240.1_Missense_Mutation_p.I789V|RTN4_ENST00000404909.1_Missense_Mutation_p.I789V|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000354474.6_Missense_Mutation_p.I763V	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	995					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						GCTGAAAATATAGCAGATGGT	0.378																																						uc002rye.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(2983-2985)ATA>GTA		reticulon 4 isoform A		T	VAL/ILE,,,VAL/ILE	0,4406		0,0,2203	116.0	113.0	114.0		2983,,,2365	-8.8	0.6	2		114	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron,intron,missense	RTN4	NM_020532.4,NM_153828.2,NM_207520.1,NM_207521.1	29,,,29	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign,,,benign	995/1193,,,789/987	55252252	1,13005	2203	4300	6503	SO:0001583	missense	57142				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	g.chr2:55252252T>C	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.2983A>G	2.37:g.55252252T>C	ENSP00000337838:p.Ile995Val					RTN4_uc002ryd.2_Missense_Mutation_p.I789V|RTN4_uc002ryf.2_Intron|RTN4_uc002ryg.2_Intron	p.I995V	NM_020532	NP_065393	Q9NQC3	RTN4_HUMAN			3	3281	-			995			Cytoplasmic (Potential).		O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	ENST00000337526.6	37	c.2983A>G	CCDS42684.1	.	.	.	.	.	.	.	.	.	.	T	1.681	-0.506484	0.04231	0.0	1.16E-4	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000354474	T;T;T;T;T;T	0.15718	2.41;2.41;2.4;2.41;2.41;2.4	5.51	-8.75	0.00834	.	1.030830	0.07581	N	0.920252	T	0.06554	0.0168	L	0.28115	0.83	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.40850	-0.9541	10	0.02654	T	1	0.3563	4.1873	0.10404	0.1815:0.2389:0.4581:0.1215	.	995	Q9NQC3	RTN4_HUMAN	V	789;789;995;789;789;763	ENSP00000384471:I789V;ENSP00000349944:I789V;ENSP00000337838:I995V;ENSP00000378109:I789V;ENSP00000385650:I789V;ENSP00000346465:I763V	ENSP00000337838:I995V	I	-	1	0	RTN4	55105756	0.194000	0.23325	0.643000	0.29450	0.987000	0.75469	-0.865000	0.04250	-1.435000	0.01972	-0.264000	0.10439	ATA		0.378	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			64	160	0	0	0	0	64	160				
NMS	129521	broad.mit.edu	37	2	101089969	101089969	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:101089969A>T	ENST00000376865.1	+	3	158	c.151A>T	c.(151-153)Agt>Tgt	p.S51C		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	51					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						ATATTGTCTGAGTCAGTGGGC	0.318																																						uc002tan.1		NA																	0				ovary(1)	1						c.(151-153)AGT>TGT		neuromedin S precursor							58.0	58.0	58.0					2																	101089969		2190	4299	6489	SO:0001583	missense	129521				neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region		g.chr2:101089969A>T	AB164464	CCDS33259.1	2q11.2	2013-02-26			ENSG00000204640	ENSG00000204640		"""Endogenous ligands"""	32203	protein-coding gene	gene with protein product	"""prepro-NMS"""					15635449	Standard	NM_001011717		Approved		uc002tan.1	Q5H8A3	OTTHUMG00000153142	ENST00000376865.1:c.151A>T	2.37:g.101089969A>T	ENSP00000366061:p.Ser51Cys						p.S51C	NM_001011717	NP_001011717	Q5H8A3	NMS_HUMAN			3	158	+			51						Missense_Mutation	SNP	ENST00000376865.1	37	c.151A>T	CCDS33259.1	.	.	.	.	.	.	.	.	.	.	A	9.426	1.084268	0.20309	.	.	ENSG00000204640	ENST00000376865	T	0.24723	1.84	3.53	3.53	0.40419	.	0.883626	0.09568	N	0.784578	T	0.14356	0.0347	N	0.14661	0.345	0.09310	N	0.999999	P	0.47034	0.889	B	0.37550	0.253	T	0.07177	-1.0786	10	0.52906	T	0.07	0.1586	8.3772	0.32451	1.0:0.0:0.0:0.0	.	51	Q5H8A3	NMS_HUMAN	C	51	ENSP00000366061:S51C	ENSP00000366061:S51C	S	+	1	0	NMS	100456401	0.948000	0.32251	0.113000	0.21522	0.688000	0.40055	2.970000	0.49240	1.447000	0.47661	0.528000	0.53228	AGT		0.318	NMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329737.1	NM_001011717		16	45	0	0	0	0	16	45				
MAP4K4	9448	broad.mit.edu	37	2	102452401	102452401	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:102452401T>G	ENST00000347699.4	+	9	734	c.734T>G	c.(733-735)aTt>aGt	p.I245S	MAP4K4_ENST00000413150.2_Missense_Mutation_p.I245S|MAP4K4_ENST00000456652.1_Intron|MAP4K4_ENST00000324219.4_Missense_Mutation_p.I245S|MAP4K4_ENST00000302217.5_Intron|MAP4K4_ENST00000350198.4_Missense_Mutation_p.I245S|MAP4K4_ENST00000425019.1_Missense_Mutation_p.I245S|MAP4K4_ENST00000350878.4_Missense_Mutation_p.I225S	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	245	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTGTTTCTCATTCCCAGAAAC	0.408																																						uc002tbg.2		NA																	0				stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(733-735)ATT>AGT		mitogen-activated protein kinase kinase kinase							80.0	83.0	82.0					2																	102452401		1864	4108	5972	SO:0001583	missense	9448				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:102452401T>G	AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.734T>G	2.37:g.102452401T>G	ENSP00000314363:p.Ile245Ser					MAP4K4_uc002tbc.2_Missense_Mutation_p.I245S|MAP4K4_uc002tbd.2_Missense_Mutation_p.I245S|MAP4K4_uc002tbe.2_Missense_Mutation_p.I245S|MAP4K4_uc002tbf.2_Missense_Mutation_p.I245S|MAP4K4_uc010yvy.1_Missense_Mutation_p.I245S|MAP4K4_uc002tbh.2_Missense_Mutation_p.I245S|MAP4K4_uc002tbi.2_Intron|MAP4K4_uc010yvz.1_Missense_Mutation_p.I225S|MAP4K4_uc010fiw.1_Missense_Mutation_p.I87S|MAP4K4_uc002tbj.1_Missense_Mutation_p.I141S	p.I245S	NM_145687	NP_663720	O95819	M4K4_HUMAN			9	789	+			245			Protein kinase.		O75172|Q9NST7	Missense_Mutation	SNP	ENST00000347699.4	37	c.734T>G	CCDS56130.1	.	.	.	.	.	.	.	.	.	.	T	19.89	3.911389	0.72983	.	.	ENSG00000071054	ENST00000425019;ENST00000324219;ENST00000350198;ENST00000413150;ENST00000347699;ENST00000417294;ENST00000350878	T;T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4;2.18	5.55	5.55	0.83447	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.66906	0.2837	M	0.88704	2.975	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.998;0.998;1.0;0.997;0.997	D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;0.993;0.993;0.999;0.988;0.988	T	0.74321	-0.3703	10	0.87932	D	0	.	15.9885	0.80179	0.0:0.0:0.0:1.0	.	225;245;245;225;245;245;245;245;245;245	B7Z388;B7Z3V5;E7ENQ1;E7ESS2;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948	.;.;.;.;.;M4K4_HUMAN;.;.;.;.	S	245;245;245;245;245;207;225	ENSP00000392830:I245S;ENSP00000313644:I245S;ENSP00000281111:I245S;ENSP00000389752:I245S;ENSP00000314363:I245S;ENSP00000409720:I207S;ENSP00000343658:I225S	ENSP00000313644:I245S	I	+	2	0	MAP4K4	101818833	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.997000	0.88414	2.234000	0.73211	0.533000	0.62120	ATT		0.408	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834		15	50	0	0	0	0	15	50				
SULT1C3	442038	broad.mit.edu	37	2	108863794	108863794	+	Silent	SNP	T	T	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:108863794T>C	ENST00000329106.2	+	1	144	c.144T>C	c.(142-144)gaT>gaC	p.D48D	SULT1C3_ENST00000376700.1_Silent_p.D48D	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	48					sulfur compound metabolic process (GO:0006790)	cytoplasm (GO:0005737)	alcohol sulfotransferase activity (GO:0004027)|aryl sulfotransferase activity (GO:0004062)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						AGCCTGATGATCTTATTCTGG	0.338																																						uc010ywo.1		NA																	0				skin(1)	1						c.(142-144)GAT>GAC		sulfotransferase family, cytosolic, 1C, member							84.0	92.0	89.0					2																	108863794		2203	4300	6503	SO:0001819	synonymous_variant	442038					cytoplasm	alcohol sulfotransferase activity	g.chr2:108863794T>C	BC146362	CCDS33267.1	2q12.3	2007-07-26			ENSG00000196228	ENSG00000196228		"""Sulfotransferases, cytosolic"""	33543	protein-coding gene	gene with protein product						14676822, 17425406	Standard	NM_001008743		Approved		uc010ywo.2	Q6IMI6	OTTHUMG00000153227	ENST00000329106.2:c.144T>C	2.37:g.108863794T>C							p.D48D	NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN			1	144	+			48					Q6IMI5	Silent	SNP	ENST00000329106.2	37	c.144T>C	CCDS33267.1																																																																																				0.338	SULT1C3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330255.1	NM_001008743		19	173	0	0	0	0	19	173				
ANAPC1	64682	broad.mit.edu	37	2	112638249	112638249	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:112638249C>T	ENST00000341068.3	-	2	926	c.154G>A	c.(154-156)Gat>Aat	p.D52N	ANAPC1_ENST00000489177.1_5'UTR	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	52					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GCAGCACCATCAGAAGACCAT	0.473																																						uc002thi.2		NA																	0				skin(2)	2						c.(154-156)GAT>AAT		anaphase promoting complex subunit 1							48.0	47.0	47.0					2																	112638249		2203	4300	6503	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112638249C>T	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.154G>A	2.37:g.112638249C>T	ENSP00000339109:p.Asp52Asn					ANAPC1_uc002thj.2_Missense_Mutation_p.D42N	p.D52N	NM_022662	NP_073153	Q9H1A4	APC1_HUMAN			2	401	-			52					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.154G>A	CCDS2093.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.179655	0.78564	.	.	ENSG00000153107	ENST00000341068	.	.	.	5.83	5.83	0.93111	.	0.000000	0.47852	U	0.000202	T	0.72252	0.3437	L	0.38175	1.15	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.989	T	0.65463	-0.6162	9	0.23302	T	0.38	-23.9723	20.1197	0.97955	0.0:1.0:0.0:0.0	.	52;52	F8WAS1;Q9H1A4	.;APC1_HUMAN	N	52	.	ENSP00000339109:D52N	D	-	1	0	ANAPC1	112354720	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.352000	0.79404	2.747000	0.94245	0.585000	0.79938	GAT		0.473	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		11	57	0	0	0	0	11	57				
SLC35F5	80255	broad.mit.edu	37	2	114501302	114501302	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:114501302C>A	ENST00000245680.2	-	6	963	c.550G>T	c.(550-552)Gat>Tat	p.D184Y	SLC35F5_ENST00000409342.1_Missense_Mutation_p.D178Y	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	184					transport (GO:0006810)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						TTTTCAGTATCAATGTTTGTG	0.358																																						uc002tku.1		NA																	0					0						c.(550-552)GAT>TAT		solute carrier family 35, member F5							237.0	225.0	229.0					2																	114501302		2203	4300	6503	SO:0001583	missense	80255				transport	integral to membrane		g.chr2:114501302C>A	AF529364	CCDS2119.1	2q14.1	2013-05-22			ENSG00000115084	ENSG00000115084		"""Solute carriers"""	23617	protein-coding gene	gene with protein product							Standard	XM_005263799		Approved	FLJ22004	uc002tku.1	Q8WV83	OTTHUMG00000131361	ENST00000245680.2:c.550G>T	2.37:g.114501302C>A	ENSP00000245680:p.Asp184Tyr					SLC35F5_uc002tkt.2_RNA|SLC35F5_uc002tkv.2_Missense_Mutation_p.D178Y|SLC35F5_uc002tkw.2_Missense_Mutation_p.D184Y	p.D184Y	NM_025181	NP_079457	Q8WV83	S35F5_HUMAN			6	974	-			184					Q9H6P8|Q9H7D8	Missense_Mutation	SNP	ENST00000245680.2	37	c.550G>T	CCDS2119.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.924096	0.52653	.	.	ENSG00000115084	ENST00000245680;ENST00000409106;ENST00000409342	T;T	0.51574	0.72;0.7	5.35	4.48	0.54585	.	0.249494	0.38492	N	0.001673	T	0.37839	0.1018	N	0.19112	0.55	0.42611	D	0.993316	P;P;B	0.48016	0.828;0.904;0.187	B;B;B	0.44044	0.34;0.439;0.172	T	0.42666	-0.9438	10	0.87932	D	0	-6.0918	14.0033	0.64446	0.0:0.9278:0.0:0.0722	.	184;178;184	B2RDY0;B8ZZV6;Q8WV83	.;.;S35F5_HUMAN	Y	184;178;178	ENSP00000245680:D184Y;ENSP00000386754:D178Y	ENSP00000245680:D184Y	D	-	1	0	SLC35F5	114217772	1.000000	0.71417	0.767000	0.31495	0.990000	0.78478	4.014000	0.57145	1.488000	0.48433	0.655000	0.94253	GAT		0.358	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254150.1	NM_025181		70	218	1	0	1.38e-34	1.78e-34	70	218				
PTPN4	5775	broad.mit.edu	37	2	120718402	120718402	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:120718402G>T	ENST00000263708.2	+	23	2924	c.2153G>T	c.(2152-2154)aGc>aTc	p.S718I	PTPN4_ENST00000544261.1_Missense_Mutation_p.S351I	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	718	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	CCTTCTTCCAGCATTATAAAT	0.358																																						uc002tmf.1		NA																	0				ovary(2)	2						c.(2152-2154)AGC>ATC		protein tyrosine phosphatase, non-receptor type	Alendronate(DB00630)						106.0	98.0	101.0					2																	120718402		2203	4300	6503	SO:0001583	missense	5775					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:120718402G>T		CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.2153G>T	2.37:g.120718402G>T	ENSP00000263708:p.Ser718Ile					PTPN4_uc010flj.1_Missense_Mutation_p.S431I|PTPN4_uc010yyr.1_Missense_Mutation_p.S351I	p.S718I	NM_002830	NP_002821	P29074	PTN4_HUMAN			23	2924	+			718			Tyrosine-protein phosphatase.		B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	c.2153G>T	CCDS2129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.89|16.89	3.247565|3.247565	0.59103|0.59103	.|.	.|.	ENSG00000088179|ENSG00000088179	ENST00000441089|ENST00000263708;ENST00000544261	.|T;T	.|0.12984	.|2.63;2.63	5.78|5.78	5.78|5.78	0.91487|0.91487	.|Protein-tyrosine phosphatase, receptor/non-receptor type (3);	.|0.116676	.|0.85682	.|D	.|0.000000	T|T	0.21022|0.21022	0.0506|0.0506	M|M	0.62209|0.62209	1.925|1.925	0.50632|0.50632	D|D	0.99988|0.99988	.|B	.|0.14805	.|0.011	.|B	.|0.27170	.|0.077	T|T	0.01508|0.01508	-1.1337|-1.1337	5|10	.|0.72032	.|D	.|0.01	.|.	16.4912|16.4912	0.84201|0.84201	0.0:0.1394:0.8606:0.0|0.0:0.1394:0.8606:0.0	.|.	.|718	.|P29074	.|PTN4_HUMAN	H|I	1|718;351	.|ENSP00000263708:S718I;ENSP00000445841:S351I	.|ENSP00000263708:S718I	Q|S	+|+	3|2	2|0	PTPN4|PTPN4	120434872|120434872	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.479000|6.479000	0.73600|0.73600	2.733000|2.733000	0.93635|0.93635	0.591000|0.591000	0.81541|0.81541	CAG|AGC		0.358	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			67	155	1	0	1.2e-24	1.5e-24	67	155				
POTEE	445582	broad.mit.edu	37	2	132020968	132020968	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:132020968A>G	ENST00000356920.5	+	15	2034	c.1940A>G	c.(1939-1941)gAa>gGa	p.E647G	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	647					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											GTCTTGCATGAAAATAGTACG	0.348																																						uc002tsn.2		NA																	0					0						c.(1939-1941)GAA>GGA		protein expressed in prostate, ovary, testis,							28.0	29.0	29.0					2																	132020968		1939	4163	6102	SO:0001583	missense	445582						ATP binding	g.chr2:132020968A>G	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.1940A>G	2.37:g.132020968A>G	ENSP00000439189:p.Glu647Gly					PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.E247G|POTEE_uc002tsl.2_Missense_Mutation_p.E229G|POTEE_uc010fmy.1_Missense_Mutation_p.E111G	p.E647G	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN			15	1992	+			647			Potential.		Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.1940A>G	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	9.664	1.144916	0.21288	.	.	ENSG00000188219	ENST00000356920	T	0.79454	-1.27	0.993	0.993	0.19825	.	.	.	.	.	T	0.67069	0.2854	M	0.65498	2.005	0.22156	N	0.999325	P	0.47604	0.898	B	0.31869	0.137	T	0.61758	-0.6997	9	0.87932	D	0	.	6.1726	0.20427	1.0:0.0:0.0:0.0	.	647	Q6S8J3	POTEE_HUMAN	G	647	ENSP00000439189:E647G	ENSP00000439189:E647G	E	+	2	0	AC131180.1	131737438	0.636000	0.27207	0.005000	0.12908	0.011000	0.07611	2.009000	0.40903	0.705000	0.31890	0.155000	0.16302	GAA		0.348	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		26	52	0	0	0	0	26	52				
ARL6IP6	151188	broad.mit.edu	37	2	153591558	153591558	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:153591558A>T	ENST00000326446.5	+	3	1216	c.505A>T	c.(505-507)Agc>Tgc	p.S169C	ARL6IP6_ENST00000463690.1_3'UTR	NM_152522.5	NP_689735.1	Q8N6S5	AR6P6_HUMAN	ADP-ribosylation factor-like 6 interacting protein 6	169						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	5						CTCCTGTTGCAGCTTTTCTTG	0.393																																						uc002tyn.2		NA																	0					0						c.(505-507)AGC>TGC		ADP-ribosylation-like factor 6 interacting							159.0	156.0	157.0					2																	153591558		2203	4300	6503	SO:0001583	missense	151188					integral to membrane		g.chr2:153591558A>T	AK023109	CCDS2197.1	2q23	2014-05-12	2014-05-12		ENSG00000177917	ENSG00000177917			24048	protein-coding gene	gene with protein product							Standard	NM_152522		Approved	MGC33864	uc002tyn.3	Q8N6S5	OTTHUMG00000131901	ENST00000326446.5:c.505A>T	2.37:g.153591558A>T	ENSP00000315357:p.Ser169Cys					ARL6IP6_uc002tym.2_RNA|ARL6IP6_uc002tyo.2_Missense_Mutation_p.S61C	p.S169C	NM_152522	NP_689735	Q8N6S5	AR6P6_HUMAN			3	1221	+			169			Helical; (Potential).		B2RDS6|Q7Z4G7	Missense_Mutation	SNP	ENST00000326446.5	37	c.505A>T	CCDS2197.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.190660	0.78789	.	.	ENSG00000177917	ENST00000326446	.	.	.	5.87	5.87	0.94306	.	0.193285	0.42682	D	0.000676	T	0.75554	0.3865	M	0.67953	2.075	0.54753	D	0.999985	P;D	0.56521	0.865;0.976	P;P	0.61800	0.488;0.894	T	0.78349	-0.2238	9	0.87932	D	0	-16.8387	15.2639	0.73646	1.0:0.0:0.0:0.0	.	169;169	B3KMZ5;Q8N6S5	.;AR6P6_HUMAN	C	169	.	ENSP00000315357:S169C	S	+	1	0	ARL6IP6	153299804	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.083000	0.64456	2.244000	0.73946	0.533000	0.62120	AGC		0.393	ARL6IP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254852.3	NM_152522		109	225	0	0	0	0	109	225				
TTN	7273	broad.mit.edu	37	2	179432093	179432093	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr2:179432093C>T	ENST00000591111.1	-	276	74067	c.73843G>A	c.(73843-73845)Gca>Aca	p.A24615T	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A17383T|TTN_ENST00000342992.6_Missense_Mutation_p.A23688T|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A17316T|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A26256T|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A17191T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24615	Ig-like 122.				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)			ATTCTAATTGCATCTTTTACA	0.353																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(71062-71064)GCA>ACA		titin isoform N2-A							158.0	167.0	164.0					2																	179432093		1833	4080	5913	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179432093C>T	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.73843G>A	2.37:g.179432093C>T	ENSP00000465570:p.Ala24615Thr					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A17383T|TTN_uc010zfi.1_Missense_Mutation_p.A17316T|TTN_uc010zfj.1_Missense_Mutation_p.A17191T	p.A23688T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	71286	-			24615					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.71062G>A		.	.	.	.	.	.	.	.	.	.	C	14.63	2.592178	0.46214	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	5.56	5.56	0.83823	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.83399	0.5246	M	0.62154	1.92	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.84499	0.0615	9	0.87932	D	0	.	19.5091	0.95133	0.0:1.0:0.0:0.0	.	17191;17316;17383;24615	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	23688;17191;17383;17316;17189	ENSP00000343764:A23688T;ENSP00000434586:A17191T;ENSP00000340554:A17383T;ENSP00000352154:A17316T	ENSP00000340554:A17383T	A	-	1	0	TTN	179140339	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	5.958000	0.70330	2.597000	0.87782	0.561000	0.74099	GCA		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	415	0	0	0	0	11	415				
TOP1	7150	broad.mit.edu	37	20	39706251	39706251	+	Silent	SNP	G	G	A	rs369651304		TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr20:39706251G>A	ENST00000361337.2	+	5	559	c.309G>A	c.(307-309)aaG>aaA	p.K103K		NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	103	Lys-rich.				chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|DNA topological change (GO:0006265)|embryonic cleavage (GO:0040016)|phosphorylation (GO:0016310)|programmed cell death (GO:0012501)|response to drug (GO:0042493)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|replication fork protection complex (GO:0031298)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|poly(A) RNA binding (GO:0044822)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Sodium stibogluconate(DB05630)|Topotecan(DB01030)	CAAAAATAAAGAAGGAGAAGG	0.438			T	NUP98	AML*																																	uc002xjl.2		NA		Dom	yes		20	20q12-q13.1	7150	T	topoisomerase (DNA) I			L	NUP98		AML*		0				breast(3)|ovary(2)|central_nervous_system(1)|kidney(1)	7						c.(307-309)AAG>AAA		DNA topoisomerase I	Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	G		1,4405	2.1+/-5.4	0,1,2202	127.0	124.0	125.0		309	1.7	1.0	20		125	0,8600		0,0,4300	no	coding-synonymous	TOP1	NM_003286.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		103/766	39706251	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7150				DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding	g.chr20:39706251G>A		CCDS13312.1	20q12-q13.1	1990-06-22			ENSG00000198900	ENSG00000198900	5.99.1.2		11986	protein-coding gene	gene with protein product		126420					Standard	NM_003286		Approved		uc010ggd.1	P11387	OTTHUMG00000033057	ENST00000361337.2:c.309G>A	20.37:g.39706251G>A						TOP1_uc010gge.1_RNA	p.K103K	NM_003286	NP_003277	P11387	TOP1_HUMAN			5	555	+		Myeloproliferative disorder(115;0.00878)	103	K->R: Localizes in both nucleoplasm and nucleoli; when associated with R-117 or R-153. Almost complete loss of sumoylation, concentrates in nucleoli and no clearing from nucleoli on CPT treatment; when associated with R-117 and R-153.		Lys-rich.		A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Silent	SNP	ENST00000361337.2	37	c.309G>A	CCDS13312.1																																																																																				0.438	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080397.2			81	71	0	0	0	0	81	71				
MATN4	8785	broad.mit.edu	37	20	43933064	43933064	+	Silent	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr20:43933064C>T	ENST00000372754.1	-	2	455	c.447G>A	c.(445-447)cgG>cgA	p.R149R	MATN4_ENST00000372751.4_Intron|MATN4_ENST00000537548.1_Silent_p.R149R|MATN4_ENST00000353917.5_Silent_p.R149R|MATN4_ENST00000342716.4_Silent_p.R149R|MATN4_ENST00000372756.1_Silent_p.R149R|RBPJL_ENST00000372743.1_5'Flank|MATN4_ENST00000360607.6_Silent_p.R149R|RBPJL_ENST00000372741.3_5'Flank|RBPJL_ENST00000343694.3_5'Flank			O95460	MATN4_HUMAN	matrilin 4	149	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GGTCCTGGGGCCGCCCGTCTG	0.721																																						uc002xnn.2		NA																	0					0						c.(445-447)CGG>CGA		matrilin 4 isoform 1 precursor							6.0	8.0	7.0					20																	43933064		2097	4053	6150	SO:0001819	synonymous_variant	8785					extracellular region	protein binding	g.chr20:43933064C>T	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.447G>A	20.37:g.43933064C>T						MATN4_uc002xno.2_Silent_p.R149R|MATN4_uc002xnp.2_Silent_p.R149R|MATN4_uc010zwr.1_Silent_p.R97R|MATN4_uc002xnr.1_Silent_p.R149R|RBPJL_uc002xns.2_5'Flank|RBPJL_uc002xnt.2_5'Flank	p.R149R	NM_003833	NP_003824	O95460	MATN4_HUMAN			3	634	-		Myeloproliferative disorder(115;0.0122)	149			VWFA 1.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Silent	SNP	ENST00000372754.1	37	c.447G>A																																																																																					0.721	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1			6	7	0	0	0	0	6	7				
PIGT	51604	broad.mit.edu	37	20	44045291	44045291	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr20:44045291T>A	ENST00000279036.6	+	2	402	c.322T>A	c.(322-324)Tca>Aca	p.S108T	PIGT_ENST00000279035.9_Intron|PIGT_ENST00000535404.1_5'UTR|PIGT_ENST00000341555.5_Intron|PIGT_ENST00000543458.2_Missense_Mutation_p.S108T|PIGT_ENST00000545755.1_Intron|PIGT_ENST00000372689.5_Missense_Mutation_p.S108T	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	108					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				GCAGGCCCCATCAGGTGCAGA	0.582																																						uc002xoh.1		NA																	0				pancreas(1)	1						c.(322-324)TCA>ACA		phosphatidylinositol glycan anchor biosynthesis,							49.0	43.0	45.0					20																	44045291		2203	4300	6503	SO:0001583	missense	51604				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr20:44045291T>A		CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"""Phosphatidylinositol glycan anchor biosynthesis"""	14938	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610272	"""phosphatidylinositol glycan, class T"""			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.322T>A	20.37:g.44045291T>A	ENSP00000279036:p.Ser108Thr					PIGT_uc010ghb.1_Missense_Mutation_p.S108T|PIGT_uc010zwt.1_RNA|PIGT_uc010ghd.1_Intron|PIGT_uc010ghc.1_RNA|PIGT_uc010ghe.1_Missense_Mutation_p.S108T|PIGT_uc010ghf.1_Missense_Mutation_p.S108T|PIGT_uc002xoj.1_Missense_Mutation_p.S108T|PIGT_uc002xok.1_Missense_Mutation_p.S108T|PIGT_uc010zwu.1_5'UTR|PIGT_uc002xoi.1_RNA|PIGT_uc010zwv.1_Intron|PIGT_uc010zww.1_Missense_Mutation_p.S108T|PIGT_uc010zwx.1_5'UTR|PIGT_uc010zwy.1_Intron|PIGT_uc010zwz.1_Intron|PIGT_uc010zxa.1_5'UTR|PIGT_uc002xol.1_5'Flank	p.S108T	NM_015937	NP_057021	Q969N2	PIGT_HUMAN			2	395	+		Myeloproliferative disorder(115;0.0122)	108			Lumenal (Potential).		B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Missense_Mutation	SNP	ENST00000279036.6	37	c.322T>A	CCDS13353.1	.	.	.	.	.	.	.	.	.	.	T	11.52	1.662082	0.29515	.	.	ENSG00000124155	ENST00000543458;ENST00000372689;ENST00000279036	T;T;T	0.43294	0.95;1.26;1.26	5.94	4.85	0.62838	.	0.197954	0.45126	D	0.000392	T	0.12902	0.0313	N	0.01522	-0.82	0.80722	D	1	B;B;B	0.15930	0.015;0.003;0.001	B;B;B	0.17433	0.018;0.01;0.002	T	0.26710	-1.0095	10	0.02654	T	1	-12.4856	6.3074	0.21147	0.1236:0.0:0.2499:0.6265	.	108;108;108	B7Z3N1;B7Z7C5;Q969N2	.;.;PIGT_HUMAN	T	108	ENSP00000441577:S108T;ENSP00000361774:S108T;ENSP00000279036:S108T	ENSP00000279036:S108T	S	+	1	0	PIGT	43478705	1.000000	0.71417	0.991000	0.47740	0.990000	0.78478	3.514000	0.53422	2.269000	0.75478	0.455000	0.32223	TCA		0.582	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079434.2	NM_015937		7	35	0	0	0	0	7	35				
KCNB1	3745	broad.mit.edu	37	20	47991215	47991215	+	Silent	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr20:47991215G>A	ENST00000371741.4	-	2	1048	c.882C>T	c.(880-882)cgC>cgT	p.R294R		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	294					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)	p.R294R(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	TCTGGACCACGCGGCGGACAT	0.532																																						uc002xur.1		NA																	1	Substitution - coding silent(1)	p.R294R(1)	pancreas(1)	pancreas(1)|skin(1)	2						c.(880-882)CGC>CGT		potassium voltage-gated channel, Shab-related							87.0	81.0	83.0					20																	47991215		2203	4300	6503	SO:0001819	synonymous_variant	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47991215G>A	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.882C>T	20.37:g.47991215G>A						KCNB1_uc002xus.1_Silent_p.R294R	p.R294R	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	1046	-			294					Q14193	Silent	SNP	ENST00000371741.4	37	c.882C>T	CCDS13418.1																																																																																				0.532	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		9	78	0	0	0	0	9	78				
HSPA13	6782	broad.mit.edu	37	21	15753858	15753858	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr21:15753858G>A	ENST00000285667.3	-	2	99	c.32C>T	c.(31-33)gCt>gTt	p.A11V	HSPA13_ENST00000544452.1_5'UTR|HSPA13_ENST00000478035.1_5'UTR	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	11						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						AGTCAAAACAGCCGATCCTGA	0.363																																						uc002yjt.2		NA																	0				kidney(1)	1						c.(31-33)GCT>GTT		heat shock protein 70kDa family member 13							34.0	33.0	33.0					21																	15753858		2203	4299	6502	SO:0001583	missense	6782					endoplasmic reticulum|microsome	ATP binding	g.chr21:15753858G>A		CCDS13567.1	21q11.1	2011-09-02	2008-06-17	2008-06-17	ENSG00000155304	ENSG00000155304		"""Heat shock proteins / HSP70"""	11375	protein-coding gene	gene with protein product		601100	"""stress 70 protein chaperone, microsome-associated, 60kD"", ""stress 70 protein chaperone, microsome-associated, 60kDa"""	STCH		8825657	Standard	NM_006948		Approved		uc002yjt.3	P48723	OTTHUMG00000074261	ENST00000285667.3:c.32C>T	21.37:g.15753858G>A	ENSP00000285667:p.Ala11Val					HSPA13_uc011abx.1_5'UTR	p.A11V	NM_006948	NP_008879	P48723	HSP13_HUMAN			2	101	-			11					B2R616|Q8NE40	Missense_Mutation	SNP	ENST00000285667.3	37	c.32C>T	CCDS13567.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.639192	0.47153	.	.	ENSG00000155304	ENST00000285667	T	0.01685	4.69	5.46	5.46	0.80206	.	0.146933	0.64402	D	0.000010	T	0.02267	0.0070	L	0.33485	1.01	0.80722	D	1	B	0.33857	0.429	B	0.24006	0.05	T	0.59573	-0.7429	10	0.87932	D	0	-15.1937	19.3065	0.94164	0.0:0.0:1.0:0.0	.	11	P48723	HSP13_HUMAN	V	11	ENSP00000285667:A11V	ENSP00000285667:A11V	A	-	2	0	HSPA13	14675729	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	5.889000	0.69766	2.574000	0.86865	0.557000	0.71058	GCT		0.363	HSPA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157815.1			3	18	0	0	0	0	3	18				
MAP3K7CL	56911	broad.mit.edu	37	21	30521536	30521536	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr21:30521536C>T	ENST00000399947.2	+	7	674	c.397C>T	c.(397-399)Cct>Tct	p.P133S	MAP3K7CL_ENST00000341618.4_Missense_Mutation_p.P133S|MAP3K7CL_ENST00000399926.1_Missense_Mutation_p.P33S|MAP3K7CL_ENST00000399928.1_Missense_Mutation_p.P33S|MAP3K7CL_ENST00000399935.2_Missense_Mutation_p.P33S|MAP3K7CL_ENST00000399925.1_Missense_Mutation_p.P33S|MAP3K7CL_ENST00000339024.4_Missense_Mutation_p.P33S|MAP3K7CL_ENST00000545939.1_Missense_Mutation_p.P27S|MAP3K7CL_ENST00000286791.5_3'UTR|MAP3K7CL_ENST00000399934.1_Missense_Mutation_p.P33S	NM_020152.2	NP_064537.1	P57077	M3KCL_HUMAN	MAP3K7 C-terminal like	133						cytosol (GO:0005829)|nucleus (GO:0005634)											AGACTCCATTCCTTTGGTCTT	0.423																																						uc002yne.2		NA																	0				ovary(2)	2						c.(397-399)CCT>TCT		chromosome 21 open reading frame 7							158.0	153.0	155.0					21																	30521536		2203	4300	6503	SO:0001583	missense	56911					cytosol|nucleus	protein binding	g.chr21:30521536C>T	AF269161	CCDS13584.1, CCDS68182.1, CCDS74775.1	21q22.3	2013-02-22	2013-02-22	2013-02-22	ENSG00000156265	ENSG00000156265			16457	protein-coding gene	gene with protein product		611110	"""chromosome 21 open reading frame 7"""	C21orf7			Standard	NM_020152		Approved	TAKL, TAK1L, TAKL-1, TAKL-2, TAKL-4	uc002ynf.3	P57077	OTTHUMG00000078806	ENST00000399947.2:c.397C>T	21.37:g.30521536C>T	ENSP00000382828:p.Pro133Ser					C21orf7_uc011acr.1_RNA|C21orf7_uc002ynd.2_RNA|C21orf7_uc010gln.2_RNA|C21orf7_uc002ynf.2_Missense_Mutation_p.P133S|C21orf7_uc010glo.2_5'UTR|C21orf7_uc002yng.2_Missense_Mutation_p.P33S|C21orf7_uc010glp.2_RNA	p.P133S	NM_020152	NP_064537	P57077	TAK1L_HUMAN		Colorectal(56;0.248)	6	668	+			133					D3DSE0|Q8TCL9	Missense_Mutation	SNP	ENST00000399947.2	37	c.397C>T	CCDS13584.1	.	.	.	.	.	.	.	.	.	.	C	8.252	0.809309	0.16537	.	.	ENSG00000156265	ENST00000545939;ENST00000341618;ENST00000399935;ENST00000399934;ENST00000399947;ENST00000339024;ENST00000399928;ENST00000399926;ENST00000399925;ENST00000451489	T;T	0.48201	0.82;0.82	4.35	3.46	0.39613	.	0.122369	0.56097	N	0.000032	T	0.44286	0.1286	L	0.54323	1.7	0.48901	D	0.999726	B;P	0.41450	0.06;0.75	B;B	0.41440	0.032;0.357	T	0.44143	-0.9347	10	0.45353	T	0.12	-4.2526	11.5187	0.50539	0.0:0.8454:0.0:0.1546	.	33;133	B0EVZ8;P57077	.;TAK1L_HUMAN	S	27;133;33;33;133;33;33;33;33;33	ENSP00000343212:P133S;ENSP00000382828:P133S	ENSP00000345777:P33S	P	+	1	0	C21orf7	29443407	0.991000	0.36638	0.963000	0.40424	0.283000	0.27025	2.398000	0.44486	1.424000	0.47217	-0.140000	0.14226	CCT		0.423	MAP3K7CL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000171865.2	NM_020152		138	102	0	0	0	0	138	102				
MICAL3	57553	broad.mit.edu	37	22	18369952	18369952	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr22:18369952G>A	ENST00000441493.2	-	15	2403	c.2051C>T	c.(2050-2052)aCc>aTc	p.T684I	MICAL3_ENST00000400561.2_Missense_Mutation_p.T684I|MICAL3_ENST00000429452.1_Missense_Mutation_p.T684I|MICAL3_ENST00000585038.1_Missense_Mutation_p.T684I|MICAL3_ENST00000383094.3_Missense_Mutation_p.T684I|MICAL3_ENST00000414725.2_Missense_Mutation_p.T684I|MICAL3_ENST00000207726.7_Missense_Mutation_p.T684I|MICAL3_ENST00000444520.1_Missense_Mutation_p.T684I	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	684					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TGATTGACTGGTCTTTCTCCT	0.433																																						uc002zng.3		NA																	0					0						c.(2050-2052)ACC>ATC		microtubule associated monoxygenase, calponin							142.0	121.0	128.0					22																	18369952		1568	3582	5150	SO:0001583	missense	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18369952G>A	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.2051C>T	22.37:g.18369952G>A	ENSP00000416015:p.Thr684Ile					MICAL3_uc011agl.1_Missense_Mutation_p.T684I|MICAL3_uc002znh.2_Missense_Mutation_p.T684I|MICAL3_uc002znj.1_Missense_Mutation_p.T384I|MICAL3_uc002znk.1_Missense_Mutation_p.T684I|MICAL3_uc002znl.1_Missense_Mutation_p.T317I|MICAL3_uc002znm.2_Missense_Mutation_p.T185I|MICAL3_uc010grf.2_Missense_Mutation_p.T684I	p.T684I	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	15	2404	-		all_epithelial(15;0.198)	684					B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	c.2051C>T	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.719130	0.68844	.	.	ENSG00000093100;ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000429452;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726	T;T;T;T;T;T;T	0.68331	-0.05;-0.32;-0.11;-0.11;-0.14;-0.11;-0.14	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.81317	0.4797	M	0.67953	2.075	0.58432	D	0.999999	D;B;P;P;D	0.76494	0.999;0.257;0.659;0.659;0.964	D;B;P;P;P	0.78314	0.991;0.062;0.5;0.5;0.601	T	0.78550	-0.2161	10	0.40728	T	0.16	.	19.9262	0.97102	0.0:0.0:1.0:0.0	.	684;684;684;684;684	B2RXJ5;Q7RTP6-3;Q7RTP6-2;Q7RTP6-4;Q7RTP6	.;.;.;.;MICA3_HUMAN	I	684	ENSP00000416015:T684I;ENSP00000414846:T684I;ENSP00000383406:T684I;ENSP00000410315:T684I;ENSP00000391827:T684I;ENSP00000372574:T684I;ENSP00000207726:T684I	ENSP00000207726:T684I	T	-	2	0	XXbac-B461K10.4;MICAL3	16749952	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	8.767000	0.91732	2.797000	0.96272	0.655000	0.94253	ACC		0.433	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			19	48	0	0	0	0	19	48				
TIMP3	7078	broad.mit.edu	37	22	33253268	33253268	+	Silent	SNP	G	G	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr22:33253268G>C	ENST00000266085.6	+	3	538	c.237G>C	c.(235-237)gtG>gtC	p.V79V	SYN3_ENST00000332840.5_Intron|SYN3_ENST00000358763.2_Intron	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN	TIMP metallopeptidase inhibitor 3	79	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				cellular response to organic substance (GO:0071310)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						TGCCCCATGTGCAGTACATCC	0.502																																						uc003anb.2		NA																	0				lung(1)	1						c.(235-237)GTG>GTC		tissue inhibitor of metalloproteinase 3							155.0	127.0	137.0					22																	33253268		2203	4300	6503	SO:0001819	synonymous_variant	7078				negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding	g.chr22:33253268G>C		CCDS13911.1	22q12.3	2013-01-08	2008-07-31		ENSG00000100234	ENSG00000100234			11822	protein-coding gene	gene with protein product		188826	"""tissue inhibitor of metalloproteinase 3 (Sorsby fundus dystrophy, pseudoinflammatory)"""	SFD		8188246, 12652295	Standard	NM_000362		Approved		uc003anb.3	P35625	OTTHUMG00000030784	ENST00000266085.6:c.237G>C	22.37:g.33253268G>C						SYN3_uc003amx.2_Intron|SYN3_uc003amy.2_Intron|SYN3_uc003amz.2_Intron	p.V79V	NM_000362	NP_000353	P35625	TIMP3_HUMAN			3	1423	+			79			NTR.		B2RBY9|Q5THV4|Q9UC74|Q9UGS2	Silent	SNP	ENST00000266085.6	37	c.237G>C	CCDS13911.1																																																																																				0.502	TIMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075672.2	NM_000362		62	129	0	0	0	0	62	129				
TTLL12	23170	broad.mit.edu	37	22	43575707	43575707	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr22:43575707T>C	ENST00000216129.6	-	5	821	c.758A>G	c.(757-759)aAg>aGg	p.K253R		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	253					cellular protein modification process (GO:0006464)					central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				CAGCATGCACTTCCGGATCAG	0.662																																						uc003bdq.2		NA																	0				central_nervous_system(1)	1						c.(757-759)AAG>AGG		tubulin tyrosine ligase-like family, member 12							84.0	83.0	83.0					22																	43575707		2203	4300	6503	SO:0001583	missense	23170				protein modification process		tubulin-tyrosine ligase activity	g.chr22:43575707T>C	D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"""Tubulin tyrosine ligase-like family"""	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.758A>G	22.37:g.43575707T>C	ENSP00000216129:p.Lys253Arg					TTLL12_uc003bdr.1_Missense_Mutation_p.K253R	p.K253R	NM_015140	NP_055955	Q14166	TTL12_HUMAN			5	790	-		Ovarian(80;0.221)|Glioma(61;0.222)	253					Q20WK5|Q9UGU3	Missense_Mutation	SNP	ENST00000216129.6	37	c.758A>G	CCDS14047.1	.	.	.	.	.	.	.	.	.	.	T	2.698	-0.271676	0.05716	.	.	ENSG00000100304	ENST00000216129;ENST00000423379	T	0.47528	0.84	5.55	2.12	0.27331	.	0.342118	0.32703	N	0.005750	T	0.22859	0.0552	N	0.08118	0	0.29173	N	0.877019	B;B	0.06786	0.001;0.001	B;B	0.08055	0.002;0.003	T	0.19063	-1.0317	10	0.15952	T	0.53	-16.3976	8.8646	0.35278	0.0:0.3242:0.0:0.6758	.	253;253	B1AH89;Q14166	.;TTL12_HUMAN	R	253	ENSP00000216129:K253R	ENSP00000216129:K253R	K	-	2	0	TTLL12	41905651	0.072000	0.21174	0.996000	0.52242	0.034000	0.12701	0.214000	0.17541	0.054000	0.16065	-0.408000	0.06270	AAG		0.662	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319611.1	NM_015140		52	135	0	0	0	0	52	135				
MOV10L1	54456	broad.mit.edu	37	22	50591608	50591608	+	Silent	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr22:50591608G>A	ENST00000262794.5	+	22	3110	c.3027G>A	c.(3025-3027)ttG>ttA	p.L1009L	MOV10L1_ENST00000395858.3_Silent_p.L1009L|MOV10L1_ENST00000354853.2_Silent_p.L52L|MOV10L1_ENST00000395843.1_Silent_p.L52L|MOV10L1_ENST00000395852.1_Silent_p.L136L|MOV10L1_ENST00000545383.1_Silent_p.L1009L|MOV10L1_ENST00000540615.1_Silent_p.L989L	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	1009					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GGGAGAAGTTGCCTAAGAAAG	0.582																																						uc003bjj.2		NA																	0				ovary(2)|skin(1)	3						c.(3025-3027)TTG>TTA		MOV10-like 1 isoform 1							243.0	224.0	230.0					22																	50591608		2203	4300	6503	SO:0001819	synonymous_variant	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50591608G>A	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.3027G>A	22.37:g.50591608G>A						MOV10L1_uc003bjk.3_Silent_p.L1009L|MOV10L1_uc011arp.1_Silent_p.L989L|MOV10L1_uc003bjl.2_Silent_p.L136L|MOV10L1_uc003bjm.1_Silent_p.L52L	p.L1009L	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	22	3110	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	1009					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Silent	SNP	ENST00000262794.5	37	c.3027G>A	CCDS14084.1																																																																																				0.582	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		58	166	0	0	0	0	58	166				
PLXNB2	23654	broad.mit.edu	37	22	50721196	50721196	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr22:50721196G>C	ENST00000449103.1	-	18	3071	c.2931C>G	c.(2929-2931)ttC>ttG	p.F977L	PLXNB2_ENST00000359337.4_Missense_Mutation_p.F977L|PLXNB2_ENST00000496720.1_5'Flank			O15031	PLXB2_HUMAN	plexin B2	977	IPT/TIG 2.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGCGGTAGGTGAAGAAGATGC	0.677																																						uc003bkv.3		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(2929-2931)TTC>TTG		plexin B2 precursor							29.0	36.0	34.0					22																	50721196		1931	4107	6038	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50721196G>C		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.2931C>G	22.37:g.50721196G>C	ENSP00000409171:p.Phe977Leu					PLXNB2_uc003bkt.1_5'Flank|PLXNB2_uc003bku.1_5'Flank	p.F977L	NM_012401	NP_036533	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	18	3037	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	977			Extracellular (Potential).|IPT/TIG 2.		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.2931C>G	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.774193	0.69992	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000427829	T;T	0.73575	-0.76;-0.76	3.66	3.66	0.41972	Cell surface receptor IPT/TIG (1);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000043	D	0.88209	0.6375	M	0.93720	3.45	0.54753	D	0.999982	D	0.69078	0.997	D	0.72625	0.978	D	0.90179	0.4241	10	0.51188	T	0.08	.	12.8931	0.58082	0.0:0.0:1.0:0.0	.	977	O15031	PLXB2_HUMAN	L	977;977;38	ENSP00000409171:F977L;ENSP00000352288:F977L	ENSP00000352288:F977L	F	-	3	2	PLXNB2	49063323	0.985000	0.35326	1.000000	0.80357	0.179000	0.23085	1.690000	0.37711	1.898000	0.54952	0.313000	0.20887	TTC		0.677	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		7	34	0	0	0	0	7	34				
FOXP1	27086	broad.mit.edu	37	3	71247445	71247445	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr3:71247445C>A	ENST00000318789.4	-	6	613	c.88G>T	c.(88-90)Ggc>Tgc	p.G30C	FOXP1_ENST00000493089.1_Missense_Mutation_p.G30C|FOXP1_ENST00000484350.1_Missense_Mutation_p.G30C|FOXP1_ENST00000498215.1_Missense_Mutation_p.G30C|FOXP1_ENST00000468577.1_Missense_Mutation_p.G30C|FOXP1_ENST00000475937.1_Missense_Mutation_p.G30C|FOXP1_ENST00000318779.3_Missense_Mutation_p.G30C	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	30					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CGAAGACCGCCGCACTCTAGT	0.602			T	PAX5	ALL																																	uc003dol.2		NA		Dom	yes		3	3p14.1	27086	T	forkhead box P1			L	PAX5		ALL		0				ovary(1)|lung(1)	2						c.(88-90)GGC>TGC		forkhead box P1 isoform 1							101.0	108.0	106.0					3																	71247445		2203	4300	6503	SO:0001583	missense	27086				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	g.chr3:71247445C>A	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.88G>T	3.37:g.71247445C>A	ENSP00000318902:p.Gly30Cys					FOXP1_uc003dom.2_Missense_Mutation_p.G30C|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Missense_Mutation_p.G30C|FOXP1_uc003dop.2_Missense_Mutation_p.G30C|FOXP1_uc003doq.1_Missense_Mutation_p.G30C|FOXP1_uc003dos.2_Missense_Mutation_p.G30C	p.G30C	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)	2	411	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	30					A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Missense_Mutation	SNP	ENST00000318789.4	37	c.88G>T	CCDS2914.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.795946	0.50208	.	.	ENSG00000114861	ENST00000318789;ENST00000475937;ENST00000339693;ENST00000493089;ENST00000498215;ENST00000484350;ENST00000468577;ENST00000318779	D;D;D;D;D;D;T	0.90788	-2.73;-2.73;-2.73;-2.73;-2.69;-2.51;0.35	5.87	-1.45	0.08828	.	0.759067	0.13524	N	0.381429	D	0.92260	0.7545	L	0.52573	1.65	0.09310	N	1	D;P;P;P;P	0.89917	1.0;0.737;0.737;0.619;0.619	D;P;B;B;B	0.70935	0.971;0.447;0.349;0.189;0.189	D	0.85970	0.1476	10	0.72032	D	0.01	.	12.2694	0.54697	0.0:0.2504:0.0:0.7496	.	30;30;30;30;30	Q9BSG9;A3KMG1;G5E9V8;Q8NAN6;Q9H334	.;.;.;.;FOXP1_HUMAN	C	30	ENSP00000318902:G30C;ENSP00000419393:G30C;ENSP00000418524:G30C;ENSP00000418102:G30C;ENSP00000417857:G30C;ENSP00000418883:G30C;ENSP00000318721:G30C	ENSP00000318721:G30C	G	-	1	0	FOXP1	71330135	0.000000	0.05858	0.000000	0.03702	0.483000	0.33249	0.161000	0.16481	-0.259000	0.09432	-0.140000	0.14226	GGC		0.602	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682		69	98	1	0	2.7e-31	3.46e-31	69	98				
CLCN2	1181	broad.mit.edu	37	3	184069802	184069802	+	Splice_Site	SNP	T	T	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr3:184069802T>G	ENST00000265593.4	-	22	2585	c.2414A>C	c.(2413-2415)aAg>aCg	p.K805T	CLCN2_ENST00000457512.1_Splice_Site_p.K805T|CLCN2_ENST00000423355.2_3'UTR|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000344937.7_Splice_Site_p.K788T|CLCN2_ENST00000434054.2_Splice_Site_p.K761T	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	805	CBS 2. {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)	TGGCCCTACCTTGTGCAAAGA	0.577																																						uc003foi.2		NA																	0					0						c.(2413-2415)AAG>ACG		chloride channel 2	Lubiprostone(DB01046)						122.0	122.0	122.0					3																	184069802		2203	4300	6503	SO:0001630	splice_region_variant	1181					chloride channel complex	voltage-gated chloride channel activity	g.chr3:184069802T>G	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.2415+1A>C	3.37:g.184069802T>G						CLCN2_uc003foh.2_Intron|CLCN2_uc010hya.1_Missense_Mutation_p.K788T|CLCN2_uc011brl.1_Missense_Mutation_p.K805T|CLCN2_uc011brm.1_Missense_Mutation_p.K761T	p.K805T	NM_004366	NP_004357	P51788	CLCN2_HUMAN	Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		22	2538	-	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		805			CBS 2.|Cytoplasmic (By similarity).		B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	ENST00000265593.4	37	c.2414A>C	CCDS3263.1	.	.	.	.	.	.	.	.	.	.	t	23.9	4.469759	0.84533	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.93906	-3.31;-3.31;-3.31;-2.36	5.59	5.59	0.84812	Cystathionine beta-synthase, core (3);	0.000000	0.85682	D	0.000000	D	0.97489	0.9178	M	0.93978	3.48	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;1.0	D	0.98498	1.0613	10	0.87932	D	0	-28.0931	14.7482	0.69505	0.0:0.0:0.0:1.0	.	761;805;788;805	E9PBD9;E9PCD2;P51788-3;P51788	.;.;.;CLCN2_HUMAN	T	805;788;761;805	ENSP00000265593:K805T;ENSP00000345056:K788T;ENSP00000400425:K761T;ENSP00000391928:K805T	ENSP00000265593:K805T	K	-	2	0	CLCN2	185552496	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.936000	0.87665	2.133000	0.65898	0.379000	0.24179	AAG		0.577	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1		Missense_Mutation	483	156	0	0	0	0	483	156				
TFRC	7037	broad.mit.edu	37	3	195780420	195780420	+	Missense_Mutation	SNP	G	G	T	rs374185030		TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr3:195780420G>T	ENST00000360110.4	-	18	2078	c.1909C>A	c.(1909-1911)Ctg>Atg	p.L637M	TFRC_ENST00000420415.1_Missense_Mutation_p.L556M|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Missense_Mutation_p.L355M|TFRC_ENST00000392396.3_Missense_Mutation_p.L637M	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	637	Ligand-binding.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	TGTAAACTCAGGCCCATTTCC	0.393			T	BCL6	NHL																																	uc003fvz.3		NA		Dom	yes		3	3q29	7037	T	"""transferrin receptor (p90, CD71)"""			L	BCL6		NHL		0				ovary(3)	3						c.(1909-1911)CTG>ATG		transferrin receptor							108.0	111.0	110.0					3																	195780420		2203	4300	6503	SO:0001583	missense	7037				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity	g.chr3:195780420G>T	X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"""CD molecules"""	11763	protein-coding gene	gene with protein product		190010	"""transferrin receptor (p90, CD71)"""				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.1909C>A	3.37:g.195780420G>T	ENSP00000353224:p.Leu637Met					TFRC_uc003fwa.3_Missense_Mutation_p.L637M|TFRC_uc010hzy.2_Missense_Mutation_p.L556M|TFRC_uc011btr.1_Missense_Mutation_p.L355M	p.L637M	NM_003234	NP_003225	P02786	TFR1_HUMAN	Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	18	2192	-	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		637			Extracellular (Potential).|Ligand-binding.		D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Missense_Mutation	SNP	ENST00000360110.4	37	c.1909C>A	CCDS3312.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.563652	0.65651	.	.	ENSG00000072274	ENST00000426789;ENST00000360110;ENST00000420415;ENST00000392396;ENST00000535031	T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01	5.6	4.71	0.59529	Transferrin receptor-like, dimerisation domain (3);	0.068998	0.64402	D	0.000019	T	0.79058	0.4382	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81254	-0.1016	10	0.66056	D	0.02	-8.771	12.2676	0.54686	0.1376:0.0:0.8624:0.0	.	637	P02786	TFR1_HUMAN	M	49;637;556;637;355	ENSP00000414015:L49M;ENSP00000353224:L637M;ENSP00000390133:L556M;ENSP00000376197:L637M;ENSP00000437753:L355M	ENSP00000353224:L637M	L	-	1	2	TFRC	197264817	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	3.040000	0.49799	2.635000	0.89317	0.655000	0.94253	CTG		0.393	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341346.1			101	80	1	0	1.19e-48	1.57e-48	101	80				
GBA3	57733	broad.mit.edu	37	4	22749649	22749649	+	RNA	SNP	T	T	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr4:22749649T>A	ENST00000503442.1	+	0	377				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.2_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CAGATCCATCTTGGAAAAATG	0.368																																						uc003gqp.3		NA																	0					0						c.(1015-1017)TCT>TCA		cytosolic beta-glucosidase isoform a							38.0	37.0	37.0					4																	22749649		1831	4095	5926			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22749649T>A	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22749649T>A						GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Silent_p.S340S	p.S339S	NM_020973	NP_066024	Q9H227	GBA3_HUMAN			3	1108	+			339					Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	Silent	SNP	ENST00000503442.1	37	c.1017T>A																																																																																					0.368	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			13	15	0	0	0	0	13	15				
SLC4A4	8671	broad.mit.edu	37	4	72429555	72429555	+	Missense_Mutation	SNP	A	A	G	rs150809470		TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr4:72429555A>G	ENST00000264485.5	+	24	3262	c.3145A>G	c.(3145-3147)Atg>Gtg	p.M1049V	SLC4A4_ENST00000351898.6_Missense_Mutation_p.M965V|SLC4A4_ENST00000425175.1_Intron|SLC4A4_ENST00000340595.3_Missense_Mutation_p.M1005V	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	1049					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	TAAAATTCCAATGGACATCAT	0.373																																						uc003hfy.2		NA																	0				ovary(3)|kidney(1)|skin(1)	5						c.(3145-3147)ATG>GTG		solute carrier family 4, sodium bicarbonate		A	VAL/MET,,VAL/MET	0,4406		0,0,2203	154.0	160.0	158.0		3145,,3013	5.5	1.0	4	dbSNP_134	158	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron,missense	SLC4A4	NM_001098484.2,NM_001134742.1,NM_003759.3	21,,21	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	,,	1049/1080,,1005/1036	72429555	1,13005	2203	4300	6503	SO:0001583	missense	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72429555A>G	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.3145A>G	4.37:g.72429555A>G	ENSP00000264485:p.Met1049Val					SLC4A4_uc010iic.2_Intron|SLC4A4_uc010iib.2_Missense_Mutation_p.M965V|SLC4A4_uc003hfz.2_Missense_Mutation_p.M1049V|SLC4A4_uc003hgc.3_Missense_Mutation_p.M1005V|SLC4A4_uc010iid.2_Missense_Mutation_p.M253V	p.M1049V	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		24	3262	+			1049			Cytoplasmic (Potential).		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	c.3145A>G	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	A	15.15	2.746804	0.49257	0.0	1.16E-4	ENSG00000080493	ENST00000264485;ENST00000351898;ENST00000340595	T;T;T	0.76709	-1.04;-0.72;-1.04	5.46	5.46	0.80206	.	0.036212	0.85682	D	0.000000	T	0.81791	0.4897	L	0.60845	1.875	0.80722	D	1	B;D;P	0.54397	0.019;0.966;0.803	B;P;P	0.60682	0.01;0.878;0.54	T	0.78221	-0.2288	10	0.05959	T	0.93	.	15.525	0.75898	1.0:0.0:0.0:0.0	.	965;1005;1049	Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1	.;.;S4A4_HUMAN	V	1049;965;1005	ENSP00000264485:M1049V;ENSP00000307349:M965V;ENSP00000344272:M1005V	ENSP00000264485:M1049V	M	+	1	0	SLC4A4	72648419	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.848000	0.75409	2.075000	0.62263	0.402000	0.26972	ATG		0.373	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		86	138	0	0	0	0	86	138				
ENPEP	2028	broad.mit.edu	37	4	111474548	111474548	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr4:111474548A>G	ENST00000265162.5	+	18	2921	c.2579A>G	c.(2578-2580)aAc>aGc	p.N860S		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	860					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		ATCTCATATAACAGCTATGGG	0.393																																						uc003iab.3		NA																	0				skin(3)|ovary(1)|breast(1)	5						c.(2578-2580)AAC>AGC		glutamyl aminopeptidase	L-Glutamic Acid(DB00142)						204.0	198.0	200.0					4																	111474548		2203	4300	6503	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111474548A>G	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.2579A>G	4.37:g.111474548A>G	ENSP00000265162:p.Asn860Ser						p.N860S	NM_001977	NP_001968	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	18	2921	+		Hepatocellular(203;0.217)	860			Extracellular (Potential).		Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.2579A>G	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	A	19.82	3.899134	0.72754	.	.	ENSG00000138792	ENST00000265162	T	0.05925	3.37	5.4	5.4	0.78164	.	0.080473	0.85682	D	0.000000	T	0.09379	0.0231	L	0.54323	1.7	0.49915	D	0.999833	P	0.39443	0.674	B	0.41860	0.368	T	0.10314	-1.0635	10	0.39692	T	0.17	.	9.8788	0.41220	0.9233:0.0:0.0767:0.0	.	860	Q07075	AMPE_HUMAN	S	860	ENSP00000265162:N860S	ENSP00000265162:N860S	N	+	2	0	ENPEP	111693997	1.000000	0.71417	0.982000	0.44146	0.962000	0.63368	5.939000	0.70179	2.040000	0.60383	0.528000	0.53228	AAC		0.393	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			121	129	0	0	0	0	121	129				
FNIP2	57600	broad.mit.edu	37	4	159782919	159782919	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr4:159782919G>A	ENST00000264433.6	+	12	1531	c.1456G>A	c.(1456-1458)Gca>Aca	p.A486T	FNIP2_ENST00000379346.3_Missense_Mutation_p.A509T	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	486					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TCCTCTTTGGGCACAGCTGGG	0.443																																						uc003iqe.3		NA																	0					0						c.(1456-1458)GCA>ACA		folliculin interacting protein 2							138.0	131.0	133.0					4																	159782919		1897	4120	6017	SO:0001583	missense	57600				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding	g.chr4:159782919G>A	AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 1"""	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.1456G>A	4.37:g.159782919G>A	ENSP00000264433:p.Ala486Thr						p.A486T	NM_020840	NP_065891	Q9P278	FNIP2_HUMAN		COAD - Colon adenocarcinoma(41;0.00936)	12	1639	+	all_hematologic(180;0.24)		486					Q05DC3|Q96I31|Q9H994	Missense_Mutation	SNP	ENST00000264433.6	37	c.1456G>A	CCDS47155.1	.	.	.	.	.	.	.	.	.	.	G	34	5.334099	0.95758	.	.	ENSG00000052795	ENST00000264433;ENST00000512986;ENST00000379346	T;T;T	0.38722	1.12;1.12;1.12	5.74	5.74	0.90152	.	.	.	.	.	T	0.67021	0.2849	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.65150	-0.6238	8	.	.	.	.	19.9111	0.97025	0.0:0.0:1.0:0.0	.	486	Q9P278	FNIP2_HUMAN	T	486;509;509	ENSP00000264433:A486T;ENSP00000421488:A509T;ENSP00000368651:A509T	.	A	+	1	0	FNIP2	160002369	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.807000	0.99171	2.722000	0.93159	0.591000	0.81541	GCA		0.443	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840		108	114	0	0	0	0	108	114				
SPATA4	132851	broad.mit.edu	37	4	177113893	177113893	+	Silent	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr4:177113893G>A	ENST00000280191.2	-	4	681	c.573C>T	c.(571-573)aaC>aaT	p.N191N	SPATA4_ENST00000515234.1_Silent_p.N18N	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	191						cytoplasm (GO:0005737)				NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		ATAACCTAATGTTATCTTTAA	0.383																																						uc003iuo.1		NA																	0					0						c.(571-573)AAC>AAT		spermatogenesis associated 4							77.0	78.0	78.0					4																	177113893		2203	4300	6503	SO:0001819	synonymous_variant	132851				apoptosis|spermatogenesis			g.chr4:177113893G>A	AY040204	CCDS3826.1	4q34.2	2008-02-05			ENSG00000150628	ENSG00000150628			17333	protein-coding gene	gene with protein product		609879					Standard	NM_144644		Approved	TSARG2, SPEF1B	uc003iuo.1	Q8NEY3	OTTHUMG00000160788	ENST00000280191.2:c.573C>T	4.37:g.177113893G>A							p.N191N	NM_144644	NP_653245	Q8NEY3	SPAT4_HUMAN		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)	4	682	-		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)	191					Q8NCS5|Q8WW15	Silent	SNP	ENST00000280191.2	37	c.573C>T	CCDS3826.1																																																																																				0.383	SPATA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362326.1	NM_144644		49	57	0	0	0	0	49	57				
AHRR	57491	broad.mit.edu	37	5	423993	423993	+	Silent	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr5:423993G>A	ENST00000505113.1	+	7	665	c.621G>A	c.(619-621)caG>caA	p.Q207Q	AHRR_ENST00000316418.5_Silent_p.Q207Q|AHRR_ENST00000506456.1_Silent_p.Q63Q|AHRR_ENST00000512529.1_Silent_p.Q53Q	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	207					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			TCAGGGCCCAGGAGTGGGGCA	0.657																																						uc003jav.2		NA																	0				breast(2)	2						c.(619-621)CAG>CAA		arylhydrocarbon receptor repressor							41.0	49.0	47.0					5																	423993		2085	4204	6289	SO:0001819	synonymous_variant	57491				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr5:423993G>A	AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.621G>A	5.37:g.423993G>A						AHRR_uc003jaw.2_Silent_p.Q203Q|AHRR_uc010isy.2_Silent_p.Q53Q|AHRR_uc010isz.2_Silent_p.Q203Q|AHRR_uc003jax.2_5'UTR|AHRR_uc003jay.2_Silent_p.Q63Q	p.Q207Q	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		7	665	+			207					A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Silent	SNP	ENST00000505113.1	37	c.621G>A	CCDS56355.1																																																																																				0.657	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	NM_020731		54	59	0	0	0	0	54	59				
ADAMTS16	170690	broad.mit.edu	37	5	5182363	5182363	+	Missense_Mutation	SNP	C	C	G	rs374682555	byFrequency	TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr5:5182363C>G	ENST00000274181.7	+	4	846	c.708C>G	c.(706-708)agC>agG	p.S236R	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.S236R	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	236					branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TGCACAGCAGCGACCTTCGCC	0.522																																						uc003jdl.2		NA																	0				ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(706-708)AGC>AGG		ADAM metallopeptidase with thrombospondin type 1							68.0	73.0	71.0					5																	5182363		2096	4235	6331	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5182363C>G	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.708C>G	5.37:g.5182363C>G	ENSP00000274181:p.Ser236Arg					ADAMTS16_uc003jdk.1_Missense_Mutation_p.S236R|ADAMTS16_uc003jdj.1_Missense_Mutation_p.S236R	p.S236R	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			4	846	+			236					C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.708C>G	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	2.738	-0.262981	0.05754	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.61859	0.15;0.07	5.47	-4.34	0.03666	.	1.355630	0.04679	N	0.412057	T	0.31544	0.0800	N	0.11427	0.14	0.09310	N	1	B;B;B	0.13594	0.001;0.0;0.008	B;B;B	0.10450	0.001;0.003;0.005	T	0.12066	-1.0562	10	0.15952	T	0.53	.	5.1361	0.14935	0.0888:0.3453:0.0881:0.4778	.	236;236;236	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	R	236	ENSP00000274181:S236R;ENSP00000421631:S236R	ENSP00000274181:S236R	S	+	3	2	ADAMTS16	5235363	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.451000	0.06795	-1.321000	0.02281	-1.761000	0.00669	AGC		0.522	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		46	82	0	0	0	0	46	82				
PRDM9	56979	broad.mit.edu	37	5	23527862	23527862	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr5:23527862G>T	ENST00000296682.3	+	11	2847	c.2665G>T	c.(2665-2667)Gtc>Ttc	p.V889F		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	889					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GAAGCCCTACGTCTGCAGGGA	0.522										HNSCC(3;0.000094)																												uc003jgo.2		NA																	0				ovary(3)|large_intestine(2)|pancreas(1)	6						c.(2665-2667)GTC>TTC		PR domain containing 9							55.0	64.0	61.0					5																	23527862		2164	4290	6454	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23527862G>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2665G>T	5.37:g.23527862G>T	ENSP00000296682:p.Val889Phe	HNSCC(3;0.000094)					p.V889F	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			11	2847	+			889					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.2665G>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.568910	0.28003	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.15834	2.39	1.72	-0.229	0.13094	.	.	.	.	.	T	0.21022	0.0506	L	0.42245	1.32	0.09310	N	1	D	0.64830	0.994	P	0.55112	0.769	T	0.12578	-1.0542	9	0.54805	T	0.06	-1.9501	4.8658	0.13607	0.5672:0.0:0.4328:0.0	.	889	Q9NQV7	PRDM9_HUMAN	F	889;403	ENSP00000296682:V889F	ENSP00000253473:V403F	V	+	1	0	PRDM9	23563619	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.518000	0.00034	-0.083000	0.12618	-0.465000	0.05216	GTC		0.522	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		17	112	1	0	6.5e-13	7.65e-13	17	112				
C7	730	broad.mit.edu	37	5	40981608	40981608	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr5:40981608C>T	ENST00000313164.9	+	18	2824	c.2465C>T	c.(2464-2466)gCt>gTt	p.A822V		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	822	Factor I module (FIM) 2.			GA -> AL (in Ref. 3). {ECO:0000305}.	cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				GAGGCGGGCGCTCTGAGATGC	0.567																																						uc003jmh.2		NA																	0					0						c.(2464-2466)GCT>GTT		complement component 7 precursor							60.0	63.0	62.0					5																	40981608		2107	4233	6340	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40981608C>T	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.2465C>T	5.37:g.40981608C>T	ENSP00000322061:p.Ala822Val						p.A822V	NM_000587	NP_000578	P10643	CO7_HUMAN			18	2579	+		Ovarian(839;0.0112)	822	GA -> AL (in Ref. 3).		Complement control factor I module 2.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.2465C>T	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.487618	0.01018	.	.	ENSG00000112936	ENST00000313164	T	0.64618	-0.11	5.83	-3.48	0.04739	Factor I / membrane attack complex (1);	1.811360	0.02513	N	0.091774	T	0.44726	0.1307	N	0.25332	0.735	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46428	-0.9192	10	0.02654	T	1	0.8429	11.5173	0.50529	0.0:0.122:0.1064:0.7716	.	822	P10643	CO7_HUMAN	V	822	ENSP00000322061:A822V	ENSP00000322061:A822V	A	+	2	0	C7	41017365	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.385000	0.07379	-0.473000	0.06871	-0.253000	0.11424	GCT		0.567	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			22	36	0	0	0	0	22	36				
HCN1	348980	broad.mit.edu	37	5	45262156	45262156	+	Nonsense_Mutation	SNP	G	G	T	rs572698864		TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr5:45262156G>T	ENST00000303230.4	-	8	2597	c.2540C>A	c.(2539-2541)tCg>tAg	p.S847*		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	847					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GATGGCTCCCGACGACATCTG	0.642																																						uc003jok.2		NA																	0				ovary(1)	1						c.(2539-2541)TCG>TAG		hyperpolarization activated cyclic							48.0	56.0	53.0					5																	45262156		2203	4300	6503	SO:0001587	stop_gained	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262156G>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2540C>A	5.37:g.45262156G>T	ENSP00000307342:p.Ser847*						p.S847*	NM_021072	NP_066550	O60741	HCN1_HUMAN			8	2565	-			847			Cytoplasmic (Potential).			Nonsense_Mutation	SNP	ENST00000303230.4	37	c.2540C>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	g	37	6.318755	0.97471	.	.	ENSG00000164588	ENST00000303230	.	.	.	5.01	5.01	0.66863	.	0.000000	0.56097	D	0.000040	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.6982	0.91610	0.0:0.0:1.0:0.0	.	.	.	.	X	847	.	ENSP00000307342:S847X	S	-	2	0	HCN1	45297913	1.000000	0.71417	0.436000	0.26797	0.998000	0.95712	7.093000	0.76937	2.487000	0.83934	0.651000	0.88453	TCG		0.642	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		46	180	1	0	9.59e-17	1.17e-16	46	180				
MAP1B	4131	broad.mit.edu	37	5	71494697	71494697	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr5:71494697G>A	ENST00000296755.7	+	5	5813	c.5515G>A	c.(5515-5517)Gat>Aat	p.D1839N		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1839					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGTGTTATTCGATACAATGCA	0.493																																					Melanoma(17;367 822 11631 31730 47712)	uc003kbw.3		NA																	0				large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(5515-5517)GAT>AAT		microtubule-associated protein 1B							89.0	85.0	86.0					5																	71494697		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71494697G>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.5515G>A	5.37:g.71494697G>A	ENSP00000296755:p.Asp1839Asn					MAP1B_uc010iyw.1_Missense_Mutation_p.D1856N|MAP1B_uc010iyx.1_Missense_Mutation_p.D1713N|MAP1B_uc010iyy.1_Missense_Mutation_p.D1713N	p.D1839N	NM_005909	NP_005900	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	5756	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1839					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.5515G>A	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657779	0.29425	.	.	ENSG00000131711	ENST00000296755	T	0.03242	4.0	5.12	5.12	0.69794	.	0.089860	0.47852	D	0.000201	T	0.04952	0.0133	N	0.19112	0.55	0.36933	D	0.891975	D;P	0.61697	0.99;0.897	P;B	0.46685	0.524;0.32	T	0.49283	-0.8956	10	0.54805	T	0.06	-22.6091	17.0933	0.86627	0.0:0.0:1.0:0.0	.	1713;1839	A2BDK6;P46821	.;MAP1B_HUMAN	N	1839	ENSP00000296755:D1839N	ENSP00000296755:D1839N	D	+	1	0	MAP1B	71530453	1.000000	0.71417	0.978000	0.43139	0.328000	0.28507	3.458000	0.53014	2.562000	0.86427	0.551000	0.68910	GAT		0.493	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		40	44	0	0	0	0	40	44				
FBN2	2201	broad.mit.edu	37	5	127646995	127646995	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr5:127646995C>G	ENST00000508053.1	-	45	6045	c.5071G>C	c.(5071-5073)Gaa>Caa	p.E1691Q	FBN2_ENST00000262464.4_Missense_Mutation_p.E1691Q			P35556	FBN2_HUMAN	fibrillin 2	1691	EGF-like 27; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ATCTCACCTTCACAGATGCGG	0.498																																						uc003kuu.2		NA																	0				ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(5071-5073)GAA>CAA		fibrillin 2 precursor							64.0	54.0	57.0					5																	127646995		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127646995C>G	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.5071G>C	5.37:g.127646995C>G	ENSP00000424571:p.Glu1691Gln						p.E1691Q	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	39	5510	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1691			EGF-like 27; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.5071G>C	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	34	5.315986	0.95655	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.95788	-3.81;-3.81	5.55	5.55	0.83447	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000002	D	0.92319	0.7563	N	0.13299	0.325	0.80722	D	1	P	0.50443	0.935	P	0.48368	0.575	D	0.90380	0.4387	10	0.19590	T	0.45	.	19.7069	0.96076	0.0:1.0:0.0:0.0	.	1691	P35556	FBN2_HUMAN	Q	1691	ENSP00000262464:E1691Q;ENSP00000424571:E1691Q	ENSP00000262464:E1691Q	E	-	1	0	FBN2	127674894	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.609000	0.82925	2.894000	0.99253	0.591000	0.81541	GAA		0.498	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		21	25	0	0	0	0	21	25				
FAM13B	51306	broad.mit.edu	37	5	137346746	137346746	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr5:137346746T>A	ENST00000033079.3	-	6	1092	c.641A>T	c.(640-642)aAt>aTt	p.N214I	FAM13B_ENST00000420893.2_Missense_Mutation_p.N214I|FAM13B_ENST00000425075.2_Missense_Mutation_p.N96I	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	214	Glu-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						TTCCTCTTCATTCTCAAAAAA	0.303																																						uc003lbz.2		NA																	0					0						c.(640-642)AAT>ATT		hypothetical protein LOC51306 isoform 1							95.0	95.0	95.0					5																	137346746		2203	4300	6503	SO:0001583	missense	51306				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:137346746T>A	AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"""Rho GTPase activating proteins"""	1335	protein-coding gene	gene with protein product		609371	"""chromosome 5 open reading frame 5"", ""family with sequence similarity 13, member B1"""	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.641A>T	5.37:g.137346746T>A	ENSP00000033079:p.Asn214Ile					FAM13B_uc003lcb.2_Missense_Mutation_p.N96I|FAM13B_uc003lca.2_Missense_Mutation_p.N214I	p.N214I	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN			6	1175	-			214			Glu-rich.		D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Missense_Mutation	SNP	ENST00000033079.3	37	c.641A>T	CCDS4195.1	.	.	.	.	.	.	.	.	.	.	T	18.01	3.526788	0.64860	.	.	ENSG00000031003	ENST00000033079;ENST00000425075;ENST00000420893	T;T;T	0.23147	3.01;1.92;3.01	5.59	3.05	0.35203	Rho GTPase-activating protein domain (1);	0.266205	0.36893	N	0.002355	T	0.22126	0.0533	N	0.03608	-0.345	0.37472	D	0.915669	D;P;D	0.89917	1.0;0.928;0.999	D;B;D	0.85130	0.997;0.408;0.994	T	0.18871	-1.0323	10	0.33940	T	0.23	-15.6726	7.156	0.25637	0.0:0.0719:0.2683:0.6597	.	96;214;214	G3V0H9;Q9NYF5-2;Q9NYF5	.;.;FA13B_HUMAN	I	214;96;214	ENSP00000033079:N214I;ENSP00000394669:N96I;ENSP00000388521:N214I	ENSP00000033079:N214I	N	-	2	0	FAM13B	137374645	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.285000	0.51716	0.957000	0.37930	0.533000	0.62120	AAT		0.303	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1			70	60	0	0	0	0	70	60				
NSD1	64324	broad.mit.edu	37	5	176637762	176637762	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr5:176637762C>T	ENST00000439151.2	+	5	2407	c.2362C>T	c.(2362-2364)Cga>Tga	p.R788*	NSD1_ENST00000361032.4_Nonsense_Mutation_p.R685*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.R519*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.R519*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	788					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GCCCAAGTTCCGAAGTATAAA	0.413			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.3		NA		Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				ovary(2)|kidney(1)	3	GRCh37	CM052298	NSD1	M		c.(2362-2364)CGA>TGA		nuclear receptor binding SET domain protein 1							58.0	59.0	58.0					5																	176637762		2203	4300	6503	SO:0001587	stop_gained	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176637762C>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.2362C>T	5.37:g.176637762C>T	ENSP00000395929:p.Arg788*	HNSCC(47;0.14)				NSD1_uc003mft.3_Nonsense_Mutation_p.R519*|NSD1_uc003mfs.1_Nonsense_Mutation_p.R685*|NSD1_uc011dfx.1_Nonsense_Mutation_p.R436*	p.R788*	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	5	2500	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	788					Q96PD8|Q96RN7	Nonsense_Mutation	SNP	ENST00000439151.2	37	c.2362C>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038611	0.93630	.	.	ENSG00000165671	ENST00000354179;ENST00000355783;ENST00000439151;ENST00000347982;ENST00000361032	.	.	.	5.35	4.43	0.53597	.	0.130764	0.34110	N	0.004248	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5912	0.56443	0.2315:0.7685:0.0:0.0	.	.	.	.	X	519;519;788;519;685	.	.	R	+	1	2	NSD1	176570368	0.766000	0.28496	0.996000	0.52242	0.533000	0.34776	0.998000	0.29744	2.656000	0.90262	0.655000	0.94253	CGA		0.413	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		38	45	0	0	0	0	38	45				
PGBD1	84547	broad.mit.edu	37	6	28269689	28269689	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr6:28269689G>C	ENST00000405948.2	+	7	2478	c.2058G>C	c.(2056-2058)ttG>ttC	p.L686F	PGBD1_ENST00000259883.3_Missense_Mutation_p.L686F	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	686						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AGATAATTTTGTGTCGTTGGT	0.388																																						uc003nky.2		NA																	0				ovary(4)	4						c.(2056-2058)TTG>TTC		piggyBac transposable element derived 1							163.0	162.0	162.0					6																	28269689		2203	4300	6503	SO:0001583	missense	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28269689G>C	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.2058G>C	6.37:g.28269689G>C	ENSP00000385213:p.Leu686Phe					PGBD1_uc003nkz.2_Missense_Mutation_p.L686F	p.L686F	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN			7	2428	+			686					Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	c.2058G>C	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	G	7.779	0.709129	0.15239	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.20738	2.05;2.05	4.48	-0.548	0.11833	.	0.376195	0.15727	N	0.247613	T	0.06690	0.0171	L	0.40543	1.245	0.23681	N	0.997121	B	0.34241	0.444	B	0.42062	0.374	T	0.42155	-0.9468	10	0.13470	T	0.59	-16.8328	9.5793	0.39477	0.4282:0.0:0.5718:0.0	.	686	Q96JS3	PGBD1_HUMAN	F	686	ENSP00000385213:L686F;ENSP00000259883:L686F	ENSP00000259883:L686F	L	+	3	2	PGBD1	28377668	0.981000	0.34729	0.325000	0.25375	0.577000	0.36160	0.472000	0.22116	-0.513000	0.06496	-1.937000	0.00501	TTG		0.388	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			84	311	0	0	0	0	84	311				
NOTCH4	4855	broad.mit.edu	37	6	32168683	32168683	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr6:32168683C>T	ENST00000375023.3	-	23	4378	c.4240G>A	c.(4240-4242)Gcg>Acg	p.A1414T		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1414					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GCAGCCATCGCAGCAAGGAAG	0.647																																						uc003obb.2		NA																	0				lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						c.(4240-4242)GCG>ACG		notch4 preproprotein							49.0	37.0	41.0					6																	32168683		1511	2708	4219	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32168683C>T		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.4240G>A	6.37:g.32168683C>T	ENSP00000364163:p.Ala1414Thr					NOTCH4_uc003oba.2_Missense_Mutation_p.A77T|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA	p.A1414T	NM_004557	NP_004548	Q99466	NOTC4_HUMAN			23	4379	-			1414			Extracellular (Potential).		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.4240G>A	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679789	0.68042	.	.	ENSG00000204301	ENST00000375023	T	0.72505	-0.66	4.74	4.74	0.60224	Notch, NODP domain (1);	0.374124	0.19342	N	0.116623	T	0.60340	0.2261	L	0.27053	0.805	0.80722	D	1	B;P	0.46142	0.003;0.873	B;P	0.51701	0.027;0.677	T	0.67154	-0.5742	10	0.87932	D	0	.	13.1443	0.59452	0.0:1.0:0.0:0.0	.	1414;1413	Q99466;B0S882	NOTC4_HUMAN;.	T	1414	ENSP00000364163:A1414T	ENSP00000364163:A1414T	A	-	1	0	NOTCH4	32276661	0.858000	0.29795	0.187000	0.23214	0.921000	0.55340	3.688000	0.54699	2.497000	0.84241	0.456000	0.33151	GCG		0.647	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			30	33	0	0	0	0	30	33				
NOTCH4	4855	broad.mit.edu	37	6	32188357	32188357	+	Silent	SNP	G	G	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr6:32188357G>A	ENST00000375023.3	-	6	1122	c.984C>T	c.(982-984)aaC>aaT	p.N328N		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	328	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGGTGCCCCCGTTTCTGCAGT	0.617																																						uc003obb.2		NA																	0				lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						c.(982-984)AAC>AAT		notch4 preproprotein							64.0	63.0	63.0					6																	32188357		1511	2709	4220	SO:0001819	synonymous_variant	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32188357G>A		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.984C>T	6.37:g.32188357G>A						NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc003obc.2_Silent_p.N328N	p.N328N	NM_004557	NP_004548	Q99466	NOTC4_HUMAN			6	1123	-			328			EGF-like 8; calcium-binding (Potential).|Extracellular (Potential).		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	ENST00000375023.3	37	c.984C>T	CCDS34420.1																																																																																				0.617	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			44	141	0	0	0	0	44	141				
HLA-DQA2	3118	broad.mit.edu	37	6	32713831	32713831	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr6:32713831C>T	ENST00000374940.3	+	3	697	c.595C>T	c.(595-597)Cct>Tct	p.P199S		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	199	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""""""Insulin(DB00071)"""	CCTGGACGAGCCTCTTCTGAA	0.488																																						uc003obx.2		NA																	0					0						c.(595-597)CCT>TCT		major histocompatibility complex, class II, DQ	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						191.0	215.0	207.0					6																	32713831		1511	2709	4220	SO:0001583	missense	3118				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32713831C>T		CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.595C>T	6.37:g.32713831C>T	ENSP00000364076:p.Pro199Ser						p.P199S	NM_020056	NP_064440	P01906	DQA2_HUMAN			3	653	+			199			Alpha-2.|Extracellular (Potential).|Ig-like C1-type.		A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Missense_Mutation	SNP	ENST00000374940.3	37	c.595C>T	CCDS4753.1	.	.	.	.	.	.	.	.	.	.	.	14.70	2.615030	0.46631	.	.	ENSG00000237541	ENST00000374940	T	0.00637	6.05	3.06	3.06	0.35304	Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.303685	0.30151	U	0.010295	T	0.02610	0.0079	M	0.94021	3.485	0.42148	D	0.991542	D	0.89917	1.0	D	0.97110	1.0	T	0.13019	-1.0525	10	0.62326	D	0.03	.	11.8979	0.52665	0.0:1.0:0.0:0.0	.	199	P01906	DQA2_HUMAN	S	199	ENSP00000364076:P199S	ENSP00000364076:P199S	P	+	1	0	HLA-DQA2	32821809	0.491000	0.26019	0.420000	0.26596	0.713000	0.41058	1.783000	0.38664	1.700000	0.51204	0.174000	0.16983	CCT		0.488	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076179.2	NM_020056		97	255	0	0	0	0	97	255				
UHRF1BP1	54887	broad.mit.edu	37	6	34827076	34827076	+	Silent	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr6:34827076C>T	ENST00000192788.5	+	14	3114	c.2943C>T	c.(2941-2943)agC>agT	p.S981S	UHRF1BP1_ENST00000452449.2_Silent_p.S981S	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	981							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGAAACTGAGCAGAACCCAAG	0.572																																						uc003oju.3		NA																	0				ovary(3)	3						c.(2941-2943)AGC>AGT		ICBP90 binding protein 1							44.0	48.0	47.0					6																	34827076		2039	4182	6221	SO:0001819	synonymous_variant	54887							g.chr6:34827076C>T	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.2943C>T	6.37:g.34827076C>T						UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA	p.S981S	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN			14	3177	+			981					Q9NXE0	Silent	SNP	ENST00000192788.5	37	c.2943C>T	CCDS43455.1																																																																																				0.572	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		65	86	0	0	0	0	65	86				
DNAH8	1769	broad.mit.edu	37	6	38754589	38754589	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr6:38754589T>C	ENST00000359357.3	+	16	2047	c.1793T>C	c.(1792-1794)cTg>cCg	p.L598P	DNAH8_ENST00000441566.1_Missense_Mutation_p.L598P|DNAH8_ENST00000449981.2_Missense_Mutation_p.L815P			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	598					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGGAAGTTGCTGGTTAATTTC	0.363																																						uc003ooe.1		NA																	0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(1792-1794)CTG>CCG		dynein, axonemal, heavy polypeptide 8							88.0	87.0	87.0					6																	38754589		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38754589T>C	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.1793T>C	6.37:g.38754589T>C	ENSP00000352312:p.Leu598Pro						p.L598P	NM_001371	NP_001362					16	2393	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.1793T>C		.	.	.	.	.	.	.	.	.	.	T	19.83	3.899875	0.72754	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.57436	0.4;0.4;0.4	5.59	5.59	0.84812	Dynein heavy chain, domain-1 (1);	0.393412	0.23636	N	0.046068	T	0.53932	0.1827	L	0.54323	1.7	0.80722	D	1	D	0.55385	0.971	P	0.59643	0.861	T	0.52555	-0.8560	10	0.33940	T	0.23	.	14.3357	0.66589	0.0:0.0:0.0:1.0	.	598	Q96JB1	DYH8_HUMAN	P	803;803;598;598	ENSP00000333363:L803P;ENSP00000352312:L598P;ENSP00000402294:L598P	ENSP00000333363:L803P	L	+	2	0	DNAH8	38862567	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.012000	0.70767	2.128000	0.65567	0.533000	0.62120	CTG		0.363	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		77	99	0	0	0	0	77	99				
GPR111	222611	broad.mit.edu	37	6	47649207	47649207	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr6:47649207A>C	ENST00000296862.1	+	6	912	c.912A>C	c.(910-912)aaA>aaC	p.K304N	GPR111_ENST00000398742.2_Missense_Mutation_p.K236N|GPR111_ENST00000507065.1_Missense_Mutation_p.K236N			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	304					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						ACATTGGAAAAAATTTCACTT	0.398																																						uc010jzj.1		NA																	0				skin(1)	1						c.(910-912)AAA>AAC		G-protein coupled receptor 111							118.0	111.0	113.0					6																	47649207		1872	4112	5984	SO:0001583	missense	222611				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47649207A>C	AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"""-"", ""GPCR / Class B : Orphans"""	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.912A>C	6.37:g.47649207A>C	ENSP00000296862:p.Lys304Asn					GPR111_uc010jzk.1_Missense_Mutation_p.K236N|GPR111_uc003oyy.2_RNA	p.K304N	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN			6	913	+			304			Extracellular (Potential).		Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Missense_Mutation	SNP	ENST00000296862.1	37	c.912A>C		.	.	.	.	.	.	.	.	.	.	A	13.37	2.216069	0.39201	.	.	ENSG00000164393	ENST00000507065;ENST00000296862;ENST00000398742	T;T;T	0.38240	1.92;1.88;1.15	5.19	0.246	0.15516	.	0.471384	0.21175	N	0.078919	T	0.14830	0.0358	M	0.64170	1.965	0.09310	N	1	P;P	0.49961	0.796;0.93	P;B	0.44359	0.447;0.397	T	0.09292	-1.0681	10	0.38643	T	0.18	.	2.6648	0.05041	0.2026:0.1413:0.5125:0.1435	.	236;304	Q8IZF7-2;Q8IZF7	.;GP111_HUMAN	N	236;304;236	ENSP00000422934:K236N;ENSP00000296862:K304N;ENSP00000381727:K236N	ENSP00000296862:K304N	K	+	3	2	GPR111	47757166	0.584000	0.26766	0.779000	0.31741	0.953000	0.61014	0.402000	0.20965	0.120000	0.18254	0.472000	0.43445	AAA		0.398	GPR111-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000106423.2	NM_153839		89	293	0	0	0	0	89	293				
DEFB112	245915	broad.mit.edu	37	6	50016327	50016327	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr6:50016327T>C	ENST00000322246.4	-	1	37	c.38A>G	c.(37-39)gAa>gGa	p.E13G		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	13					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					GTACATTTTTTCAAGTTTCAG	0.328																																						uc011dws.1		NA																	0				central_nervous_system(1)	1						c.(37-39)GAA>GGA		beta-defensin 112 precursor							114.0	113.0	113.0					6																	50016327		2203	4299	6502	SO:0001583	missense	245915				defense response to bacterium	extracellular region		g.chr6:50016327T>C	DQ012016	CCDS34476.1	6p12.3	2010-03-30			ENSG00000180872	ENSG00000180872		"""Defensins, beta"""	18093	protein-coding gene	gene with protein product						11854508, 16033865	Standard	NM_001037498		Approved	DEFB-12	uc011dws.2	Q30KQ8	OTTHUMG00000160215	ENST00000322246.4:c.38A>G	6.37:g.50016327T>C	ENSP00000319126:p.Glu13Gly						p.E13G	NM_001037498	NP_001032587	Q30KQ8	DB112_HUMAN			1	38	-	Lung NSC(77;0.042)		13					Q8NET0	Missense_Mutation	SNP	ENST00000322246.4	37	c.38A>G	CCDS34476.1	.	.	.	.	.	.	.	.	.	.	T	10.96	1.498367	0.26861	.	.	ENSG00000180872	ENST00000322246	.	.	.	3.72	1.24	0.21308	.	0.533866	0.14046	N	0.345083	T	0.11452	0.0279	N	0.19112	0.55	0.09310	N	1	D	0.59357	0.985	P	0.51974	0.686	T	0.05699	-1.0869	9	0.87932	D	0	.	3.7015	0.08384	0.0:0.1196:0.226:0.6544	.	13	Q30KQ8	DB112_HUMAN	G	13	.	ENSP00000319126:E13G	E	-	2	0	DEFB112	50124286	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.245000	0.18142	0.264000	0.21851	0.533000	0.62120	GAA		0.328	DEFB112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359672.1	NM_001037498		120	121	0	0	0	0	120	121				
ZNF451	26036	broad.mit.edu	37	6	57012576	57012576	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr6:57012576G>T	ENST00000370706.4	+	10	1937	c.1693G>T	c.(1693-1695)Gag>Tag	p.E565*	RP11-203B9.4_ENST00000589263.1_RNA|ZNF451_ENST00000357489.3_Nonsense_Mutation_p.E565*|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|ZNF451_ENST00000491832.2_Nonsense_Mutation_p.E565*|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	565					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TGAGATGGATGAGGTAGAAGG	0.393																																						uc003pdm.1		NA																	0				ovary(1)|pancreas(1)	2						c.(1693-1695)GAG>TAG		zinc finger protein 451 isoform 1							153.0	153.0	153.0					6																	57012576		2203	4300	6503	SO:0001587	stop_gained	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:57012576G>T	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.1693G>T	6.37:g.57012576G>T	ENSP00000359740:p.Glu565*					ZNF451_uc003pdl.2_Nonsense_Mutation_p.E565*|ZNF451_uc003pdn.1_Nonsense_Mutation_p.E565*|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Nonsense_Mutation_p.E565*	p.E565*	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		10	1917	+	Lung NSC(77;0.145)		565					Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Nonsense_Mutation	SNP	ENST00000370706.4	37	c.1693G>T	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	G	37	6.598030	0.97692	.	.	ENSG00000112200	ENST00000370706;ENST00000357489;ENST00000491832	.	.	.	5.41	5.41	0.78517	.	0.247247	0.34906	N	0.003582	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-11.8131	9.2124	0.37326	0.2014:0.0:0.7986:0.0	.	.	.	.	X	565	.	ENSP00000350083:E565X	E	+	1	0	ZNF451	57120535	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	4.292000	0.59031	2.529000	0.85273	0.650000	0.86243	GAG		0.393	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555		119	313	1	0	4.07e-57	5.43e-57	119	313				
MCHR2	84539	broad.mit.edu	37	6	100390920	100390920	+	Silent	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr6:100390920C>A	ENST00000281806.2	-	4	806	c.492G>T	c.(490-492)ctG>ctT	p.L164L	MCHR2_ENST00000369212.2_Silent_p.L164L	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	164						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CAGGCAATGCCAGGATAAAGG	0.478																																						uc003pqh.1		NA																	0				lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	8						c.(490-492)CTG>CTT		melanin-concentrating hormone receptor 2							150.0	140.0	144.0					6																	100390920		2203	4300	6503	SO:0001819	synonymous_variant	84539					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:100390920C>A	AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.492G>T	6.37:g.100390920C>A						MCHR2_uc003pqi.1_Silent_p.L164L	p.L164L	NM_001040179	NP_001035269	Q969V1	MCHR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)	4	807	-		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)	164			Helical; Name=4; (Potential).		B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Silent	SNP	ENST00000281806.2	37	c.492G>T	CCDS5044.1																																																																																				0.478	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503		72	104	1	0	1.93e-29	2.46e-29	72	104				
SDK1	221935	broad.mit.edu	37	7	4002400	4002400	+	Missense_Mutation	SNP	G	G	A	rs148101694		TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr7:4002400G>A	ENST00000404826.2	+	9	1485	c.1346G>A	c.(1345-1347)cGt>cAt	p.R449H	SDK1_ENST00000389531.3_Missense_Mutation_p.R449H	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	449	Ig-like C2-type 4.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CAGAAGCTGCGTCCAGAGGAC	0.587																																						uc003smx.2		NA																	0				large_intestine(3)|ovary(2)|skin(1)	6						c.(1345-1347)CGT>CAT		sidekick 1 precursor		G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	52.0	45.0	47.0		1346	-4.1	0.0	7	dbSNP_134	47	0,8600		0,0,4300	no	missense	SDK1	NM_152744.3	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	449/2214	4002400	2,13004	2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4002400G>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1346G>A	7.37:g.4002400G>A	ENSP00000385899:p.Arg449His						p.R449H	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	9	1485	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	449			Ig-like C2-type 4.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.1346G>A	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.653725	0.29425	4.54E-4	0.0	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.67698	-0.28;-0.28	5.34	-4.05	0.03998	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.944721	0.08928	N	0.873454	T	0.51822	0.1697	L	0.43554	1.36	0.09310	N	1	B	0.14805	0.011	B	0.06405	0.002	T	0.40869	-0.9540	10	0.44086	T	0.13	.	6.6934	0.23185	0.5252:0.0:0.278:0.1968	.	449	Q7Z5N4	SDK1_HUMAN	H	449	ENSP00000385899:R449H;ENSP00000374182:R449H	ENSP00000374182:R449H	R	+	2	0	SDK1	3968926	0.000000	0.05858	0.024000	0.17045	0.858000	0.48976	-1.015000	0.03637	-0.725000	0.04901	-0.897000	0.02905	CGT		0.587	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		21	33	0	0	0	0	21	33				
PDE1C	5137	broad.mit.edu	37	7	32338306	32338306	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr7:32338306G>T	ENST00000396193.1	-	1	635	c.42C>A	c.(40-42)tgC>tgA	p.C14*		NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	0					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	TGGCGCTCCGGCATTTTTTGA	0.662																																						uc003tco.1		NA																	0				skin(3)|central_nervous_system(1)	4						c.(40-42)TGC>TGA		phosphodiesterase 1C							15.0	15.0	15.0					7																	32338306		876	1990	2866	SO:0001587	stop_gained	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:32338306G>T	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396193.1:c.42C>A	7.37:g.32338306G>T	ENSP00000379496:p.Cys14*						p.C14*	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		1	636	-			Error:Variant_position_missing_in_Q14123_after_alignment					B3KPC6|E9PE92|Q14124|Q8NB10	Nonsense_Mutation	SNP	ENST00000396193.1	37	c.42C>A	CCDS55100.1	.	.	.	.	.	.	.	.	.	.	G	44	10.704042	0.99453	.	.	ENSG00000154678	ENST00000396193	.	.	.	4.14	3.24	0.37175	.	1.173640	0.06250	N	0.691823	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0063	0.41959	0.1046:0.0:0.8954:0.0	.	.	.	.	X	14	.	ENSP00000379496:C14X	C	-	3	2	PDE1C	32304831	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.958000	0.40402	0.919000	0.36945	0.561000	0.74099	TGC		0.662	PDE1C-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215075.1			7	16	1	0	0.00307968	0.00327088	7	16				
PCLO	27445	broad.mit.edu	37	7	82580369	82580369	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr7:82580369C>G	ENST00000333891.9	-	6	9872	c.9535G>C	c.(9535-9537)Gac>Cac	p.D3179H	PCLO_ENST00000423517.2_Missense_Mutation_p.D3179H|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGAACAGAGTCTATCGTCTCA	0.423																																						uc003uhx.2		NA																	0				ovary(7)	7						c.(9535-9537)GAC>CAC		piccolo isoform 1							53.0	50.0	51.0					7																	82580369		1932	4154	6086	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82580369C>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.9535G>C	7.37:g.82580369C>G	ENSP00000334319:p.Asp3179His					PCLO_uc003uhv.2_Missense_Mutation_p.D3179H|PCLO_uc010lec.2_Missense_Mutation_p.D144H	p.D3179H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			6	9824	-			3110						Missense_Mutation	SNP	ENST00000333891.9	37	c.9535G>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	3.672	-0.067327	0.07273	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16324	2.35;2.35	5.57	4.69	0.59074	.	.	.	.	.	T	0.21801	0.0525	L	0.33485	1.01	0.80722	D	1	B;D;D	0.57571	0.119;0.98;0.98	B;P;P	0.54312	0.102;0.748;0.748	T	0.01305	-1.1390	9	0.87932	D	0	.	9.3679	0.38237	0.0:0.7944:0.0:0.2056	.	3110;3179;3179	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	H	3110;3179;3179	ENSP00000334319:D3179H;ENSP00000388393:D3179H	ENSP00000334319:D3179H	D	-	1	0	PCLO	82418305	0.880000	0.30214	0.994000	0.49952	0.843000	0.47879	3.052000	0.49893	1.363000	0.46019	0.467000	0.42956	GAC		0.423	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		11	53	0	0	0	0	11	53				
AKAP9	10142	broad.mit.edu	37	7	91729178	91729178	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr7:91729178G>C	ENST00000359028.2	+	44	11128	c.10903G>C	c.(10903-10905)Gat>Cat	p.D3635H	AKAP9_ENST00000358100.2_Missense_Mutation_p.D3581H|AKAP9_ENST00000356239.3_Missense_Mutation_p.D3631H			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3635					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)			AGCTGGTAGAGATAATGTATG	0.378			T	BRAF	papillary thyroid																																	uc003ulg.2		NA		Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(10891-10893)GAT>CAT		A-kinase anchor protein 9 isoform 2							134.0	116.0	122.0					7																	91729178		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.chr7:91729178G>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.10903G>C	7.37:g.91729178G>C	ENSP00000351922:p.Asp3635His					AKAP9_uc003ulf.2_Missense_Mutation_p.D3623H|AKAP9_uc003uli.2_Missense_Mutation_p.D3254H|AKAP9_uc003ulj.2_Missense_Mutation_p.D1401H|AKAP9_uc003ull.2_Missense_Mutation_p.D527H	p.D3631H	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		44	11116	+	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)		3635			Potential.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.10891G>C		.	.	.	.	.	.	.	.	.	.	G	14.91	2.676350	0.47886	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.03717	3.92;3.92;3.95;3.83	4.55	4.55	0.56014	.	0.000000	0.38837	N	0.001552	T	0.15565	0.0375	L	0.57536	1.79	0.47308	D	0.999388	P;D;D;D;D	0.89917	0.584;1.0;1.0;1.0;1.0	B;D;D;D;D	0.74348	0.138;0.983;0.95;0.977;0.977	T	0.00382	-1.1775	10	0.72032	D	0.01	.	17.8623	0.88784	0.0:0.0:1.0:0.0	.	906;3635;3635;3631;3623	B3KQF9;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	H	3631;3635;3581;3635;1477	ENSP00000348573:D3631H;ENSP00000351922:D3635H;ENSP00000350813:D3581H;ENSP00000378042:D1477H	ENSP00000348573:D3631H	D	+	1	0	AKAP9	91567114	1.000000	0.71417	0.945000	0.38365	0.613000	0.37349	4.747000	0.62141	2.518000	0.84900	0.591000	0.81541	GAT		0.378	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		26	165	0	0	0	0	26	165				
PPP1R9A	55607	broad.mit.edu	37	7	94879416	94879416	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr7:94879416G>T	ENST00000433881.1	+	9	2711	c.2179G>T	c.(2179-2181)Gaa>Taa	p.E727*	PPP1R9A_ENST00000340694.4_Nonsense_Mutation_p.E727*|PPP1R9A_ENST00000289495.5_Nonsense_Mutation_p.E727*|PPP1R9A_ENST00000456331.2_Nonsense_Mutation_p.E727*|PPP1R9A_ENST00000424654.1_Nonsense_Mutation_p.E727*|PPP1R9A_ENST00000433360.1_Nonsense_Mutation_p.E749*			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	727	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AGAGAATAAGGAAAGAATGTT	0.433										HNSCC(28;0.073)																												uc003unp.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(2179-2181)GAA>TAA		protein phosphatase 1, regulatory (inhibitor)							80.0	75.0	76.0					7																	94879416		2203	4300	6503	SO:0001587	stop_gained	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94879416G>T	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.2179G>T	7.37:g.94879416G>T	ENSP00000398870:p.Glu727*	HNSCC(28;0.073)				PPP1R9A_uc010lfj.2_Nonsense_Mutation_p.E749*|PPP1R9A_uc011kif.1_Nonsense_Mutation_p.E727*|PPP1R9A_uc003unq.2_Nonsense_Mutation_p.E727*|PPP1R9A_uc011kig.1_Nonsense_Mutation_p.E727*	p.E727*	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		9	2461	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		727			Interacts with TGN38 (By similarity).|Potential.		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Nonsense_Mutation	SNP	ENST00000433881.1	37	c.2179G>T	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	G	38	6.807806	0.97853	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	.	.	.	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	18.9569	0.92662	0.0:0.0:1.0:0.0	.	.	.	.	X	749;727;727;727;727;727	.	ENSP00000289495:E727X	E	+	1	0	PPP1R9A	94717352	1.000000	0.71417	1.000000	0.80357	0.018000	0.09664	9.657000	0.98554	2.783000	0.95769	0.655000	0.94253	GAA		0.433	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		19	41	1	0	8.28e-16	9.99e-16	19	41				
CEP41	95681	broad.mit.edu	37	7	130038842	130038842	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr7:130038842T>A	ENST00000223208.5	-	11	1282	c.1012A>T	c.(1012-1014)Aag>Tag	p.K338*	CEP41_ENST00000541543.1_Nonsense_Mutation_p.K250*|CEP41_ENST00000343969.5_Nonsense_Mutation_p.K266*	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	338					cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein polyglutamylation (GO:0018095)|protein transport (GO:0015031)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|primary cilium (GO:0072372)											CCAGGCACCTTGGACTCTCTT	0.592																																						uc003vpz.2		NA																	0					0						c.(1012-1014)AAG>TAG		testis specific, 14							106.0	121.0	116.0					7																	130038842		2203	4300	6503	SO:0001587	stop_gained	95681				G2/M transition of mitotic cell cycle	centrosome|cytosol		g.chr7:130038842T>A	AJ278890	CCDS5821.1, CCDS59078.1, CCDS59079.1, CCDS59080.1	7q32	2014-02-20	2011-10-04	2011-10-04	ENSG00000106477	ENSG00000106477			12370	protein-coding gene	gene with protein product		610523	"""testis specific, 14"""	TSGA14		14654843, 22246503	Standard	NM_018718		Approved	DKFZp762H1311, FLJ22445, JBTS15	uc003vpz.4	Q9BYV8	OTTHUMG00000157823	ENST00000223208.5:c.1012A>T	7.37:g.130038842T>A	ENSP00000223208:p.Lys338*					TSGA14_uc003vpy.2_Nonsense_Mutation_p.K100*|TSGA14_uc010lmf.2_Nonsense_Mutation_p.K135*|TSGA14_uc003vqa.2_Nonsense_Mutation_p.K266*|TSGA14_uc011kpg.1_Nonsense_Mutation_p.K250*	p.K338*	NM_018718	NP_061188	Q9BYV8	CEP41_HUMAN			11	1059	-	Melanoma(18;0.0435)		338					A4D1M0|B4DQ35|F5H0V6|Q7Z496|Q86TM1|Q8NFU8|Q9H6A3|Q9NPV3	Nonsense_Mutation	SNP	ENST00000223208.5	37	c.1012A>T	CCDS5821.1	.	.	.	.	.	.	.	.	.	.	T	29.5	5.011509	0.93346	.	.	ENSG00000106477	ENST00000223208;ENST00000541543;ENST00000343969	.	.	.	5.63	5.63	0.86233	.	0.369326	0.29900	N	0.010909	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.9716	12.5192	0.56050	0.0:0.0:0.0:1.0	.	.	.	.	X	338;250;266	.	ENSP00000223208:K338X	K	-	1	0	TSGA14	129826078	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	4.219000	0.58561	2.258000	0.74832	0.533000	0.62120	AAG		0.592	CEP41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349702.2	NM_018718		110	184	0	0	0	0	110	184				
AKR1B10	57016	broad.mit.edu	37	7	134215455	134215455	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr7:134215455A>C	ENST00000359579.4	+	2	447	c.127A>C	c.(127-129)Att>Ctt	p.I43L	AKR1B10_ENST00000475559.1_3'UTR	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	43					cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aldo-keto reductase (NADP) activity (GO:0004033)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						ATATCGGCACATTGACTGTGC	0.458																																						uc003vrr.2		NA																	0				skin(5)	5						c.(127-129)ATT>CTT		aldo-keto reductase family 1, member B10							122.0	120.0	121.0					7																	134215455		2203	4300	6503	SO:0001583	missense	57016				cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding	g.chr7:134215455A>C	AF052577	CCDS5832.1	7q33	2010-04-08			ENSG00000198074	ENSG00000198074		"""Aldo-keto reductases"""	382	protein-coding gene	gene with protein product	"""aldose reductase-like 1"", ""aldo-keto reductase family 1, member B11 (aldose reductase-like)"", ""aldose reductase-like peptide"", ""aldose reductase-related protein"", ""small intestine reductase"""	604707		AKR1B11		9765596, 9565553	Standard	NM_020299		Approved	AKR1B12, ARL-1, HIS, ARL1, HSI, ALDRLn	uc003vrr.3	O60218	OTTHUMG00000155356	ENST00000359579.4:c.127A>C	7.37:g.134215455A>C	ENSP00000352584:p.Ile43Leu						p.I43L	NM_020299	NP_064695	O60218	AK1BA_HUMAN			2	447	+			43					A4D1P1|O75890|Q6FHF3|Q8IWZ1	Missense_Mutation	SNP	ENST00000359579.4	37	c.127A>C	CCDS5832.1	.	.	.	.	.	.	.	.	.	.	A	14.76	2.631034	0.46944	.	.	ENSG00000198074	ENST00000359579	T	0.27720	1.65	4.75	-3.95	0.04118	Aldo/keto reductase, conserved site (1);NADP-dependent oxidoreductase domain (3);	0.466770	0.23149	N	0.051369	T	0.26231	0.0640	M	0.72353	2.195	0.39834	D	0.973011	B	0.02656	0.0	B	0.16722	0.016	T	0.06180	-1.0841	10	0.62326	D	0.03	.	6.831	0.23911	0.2141:0.2129:0.0:0.5731	.	43	O60218	AK1BA_HUMAN	L	43	ENSP00000352584:I43L	ENSP00000352584:I43L	I	+	1	0	AKR1B10	133865995	0.897000	0.30589	0.063000	0.19743	0.929000	0.56500	0.231000	0.17872	-0.389000	0.07786	0.397000	0.26171	ATT		0.458	AKR1B10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339615.1	NM_020299		27	133	0	0	0	0	27	133				
TRPV6	55503	broad.mit.edu	37	7	142571344	142571344	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr7:142571344C>A	ENST00000359396.3	-	13	1890	c.1645G>T	c.(1645-1647)Gtg>Ttg	p.V549L	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	549					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GGCAGGTCCACGTTGTAGTTG	0.562																																						uc003wbx.1		NA																	0				ovary(2)	2						c.(1645-1647)GTG>TTG		transient receptor potential cation channel,							273.0	214.0	234.0					7																	142571344		2203	4300	6503	SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142571344C>A	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1645G>T	7.37:g.142571344C>A	ENSP00000352358:p.Val549Leu					TRPV6_uc003wbw.1_Missense_Mutation_p.V335L|TRPV6_uc010lou.1_Missense_Mutation_p.V420L	p.V549L	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN			13	1861	-	Melanoma(164;0.059)		549					A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.1645G>T	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.582806	0.46006	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	D	0.81579	-1.51	5.57	5.57	0.84162	Ion transport (1);	0.250028	0.38605	N	0.001629	D	0.84492	0.5484	M	0.69248	2.105	0.39231	D	0.963681	P	0.45348	0.856	P	0.51833	0.681	T	0.81389	-0.0955	10	0.14252	T	0.57	-36.3454	18.5442	0.91040	0.0:1.0:0.0:0.0	.	549	Q9H1D0	TRPV6_HUMAN	L	549;381	ENSP00000352358:V549L	ENSP00000310825:V381L	V	-	1	0	TRPV6	142281466	0.875000	0.30112	0.950000	0.38849	0.079000	0.17450	1.374000	0.34283	2.613000	0.88420	0.655000	0.94253	GTG		0.562	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		78	165	1	0	2.51e-31	3.23e-31	78	165				
GIMAP4	55303	broad.mit.edu	37	7	150269705	150269705	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr7:150269705G>T	ENST00000255945.2	+	3	722	c.547G>T	c.(547-549)Ggt>Tgt	p.G183C	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Missense_Mutation_p.G197C	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	183	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGACATTTTCGGTGACCGCTA	0.512																																						uc003whl.2		NA																	0				ovary(1)	1						c.(547-549)GGT>TGT		GTPase, IMAP family member 4							97.0	97.0	97.0					7																	150269705		2203	4300	6503	SO:0001583	missense	55303						GTP binding	g.chr7:150269705G>T	AK001972	CCDS5904.1	7q36.1	2014-04-04			ENSG00000133574	ENSG00000133574		"""GTPases, IMAP"""	21872	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 1"""	608087				15474311, 18701445	Standard	NM_018326		Approved	HIMAP4, FLJ11110, IMAP4, IAN1	uc003whl.3	Q9NUV9	OTTHUMG00000157475	ENST00000255945.2:c.547G>T	7.37:g.150269705G>T	ENSP00000255945:p.Gly183Cys					GIMAP4_uc011kuu.1_Missense_Mutation_p.G44C|GIMAP4_uc011kuv.1_Missense_Mutation_p.G197C	p.G183C	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	629	+			183						Missense_Mutation	SNP	ENST00000255945.2	37	c.547G>T	CCDS5904.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642310	0.47153	.	.	ENSG00000133574	ENST00000255945;ENST00000461940;ENST00000466938	T;T	0.07021	3.23;3.23	4.72	-1.86	0.07760	AIG1 (1);	1.690430	0.02898	N	0.135021	T	0.35158	0.0922	M	0.91561	3.22	0.09310	N	1	D;D	0.89917	0.999;1.0	D;D	0.74348	0.926;0.983	T	0.34650	-0.9820	10	0.87932	D	0	.	8.1517	0.31145	0.1702:0.5555:0.2743:0.0	.	197;183	G5E9W9;Q9NUV9	.;GIMA4_HUMAN	C	183;197;115	ENSP00000255945:G183C;ENSP00000419545:G197C	ENSP00000255945:G183C	G	+	1	0	GIMAP4	149900638	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.432000	0.06956	-0.620000	0.05641	0.655000	0.94253	GGT		0.512	GIMAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348927.1	NM_018326		21	151	1	0	1.28e-07	1.45e-07	21	151				
EYA1	2138	broad.mit.edu	37	8	72229916	72229916	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr8:72229916A>G	ENST00000340726.3	-	7	1066	c.427T>C	c.(427-429)Tgg>Cgg	p.W143R	EYA1_ENST00000303824.7_Intron|EYA1_ENST00000419131.1_Intron|EYA1_ENST00000388740.3_Missense_Mutation_p.W110R|EYA1_ENST00000388742.4_Missense_Mutation_p.W143R|EYA1_ENST00000388741.2_Missense_Mutation_p.W109R|EYA1_ENST00000388743.2_Missense_Mutation_p.W142R	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	143					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)			ATGCCTGCCCACAATGCACCT	0.428																																						uc003xys.3		NA																	0				ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5						c.(427-429)TGG>CGG		eyes absent 1 isoform b							249.0	224.0	232.0					8																	72229916		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.chr8:72229916A>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.427T>C	8.37:g.72229916A>G	ENSP00000342626:p.Trp143Arg					EYA1_uc003xyr.3_Intron|EYA1_uc003xyt.3_Missense_Mutation_p.W110R|EYA1_uc010lzf.2_Missense_Mutation_p.W70R|EYA1_uc003xyu.2_Missense_Mutation_p.W143R|EYA1_uc011lfe.1_Intron|EYA1_uc003xyv.2_Intron	p.W143R	NM_172058	NP_742055	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)		6	714	-	Breast(64;0.046)		143					A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	37	c.427T>C	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	A	19.15	3.771658	0.69992	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000388741;ENST00000388743	D;D;D;D;D	0.92858	-2.79;-2.79;-3.12;-3.12;-2.79	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000012	D	0.92867	0.7731	N	0.24115	0.695	0.58432	D	0.999991	P;P;D	0.64830	0.731;0.731;0.994	B;B;D	0.78314	0.395;0.3;0.991	D	0.93488	0.6833	10	0.49607	T	0.09	-5.8884	16.1968	0.82036	1.0:0.0:0.0:0.0	.	70;110;143	Q0P517;Q99502-2;Q99502	.;.;EYA1_HUMAN	R	143;143;111;110;109;142	ENSP00000373394:W143R;ENSP00000342626:W143R;ENSP00000373392:W110R;ENSP00000373393:W109R;ENSP00000373395:W142R	ENSP00000342626:W143R	W	-	1	0	EYA1	72392470	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.225000	0.72522	0.533000	0.62120	TGG		0.428	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		108	241	0	0	0	0	108	241				
KCNB2	9312	broad.mit.edu	37	8	73480044	73480044	+	Silent	SNP	G	G	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr8:73480044G>T	ENST00000523207.1	+	2	663	c.75G>T	c.(73-75)gtG>gtT	p.V25V		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	25					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	CAGAGCCTGTGGACATTATCC	0.547																																						uc003xzb.2		NA																	0				skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7						c.(73-75)GTG>GTT		potassium voltage-gated channel, Shab-related							84.0	84.0	84.0					8																	73480044		2203	4300	6503	SO:0001819	synonymous_variant	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73480044G>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.75G>T	8.37:g.73480044G>T							p.V25V	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	663	+	Breast(64;0.137)		25			Cytoplasmic (Potential).		Q7Z7D0|Q9BXD3	Silent	SNP	ENST00000523207.1	37	c.75G>T	CCDS6209.1																																																																																				0.547	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		86	173	1	0	1.07e-49	1.42e-49	86	173				
VPS13B	157680	broad.mit.edu	37	8	100829989	100829989	+	Silent	SNP	G	G	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr8:100829989G>T	ENST00000358544.2	+	45	8505	c.8394G>T	c.(8392-8394)gtG>gtT	p.V2798V	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.V2773V	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2798					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CAAGAGATGTGTGCCTGGAAT	0.418																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2		NA																	0				ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(8392-8394)GTG>GTT		vacuolar protein sorting 13B isoform 5							149.0	138.0	142.0					8																	100829989		2203	4300	6503	SO:0001819	synonymous_variant	157680				protein transport			g.chr8:100829989G>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.8394G>T	8.37:g.100829989G>T						VPS13B_uc003yiw.2_Silent_p.V2773V	p.V2798V	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		45	8505	+	Breast(36;3.73e-07)		2798					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	c.8394G>T	CCDS6280.1																																																																																				0.418	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		100	69	1	0	9.45e-43	1.24e-42	100	69				
FER1L6	654463	broad.mit.edu	37	8	125076699	125076699	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr8:125076699C>T	ENST00000522917.1	+	26	3646	c.3440C>T	c.(3439-3441)cCc>cTc	p.P1147L	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.P1147L	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1147						integral component of membrane (GO:0016021)		p.P1147H(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ACAGTGGTGCCCGACTCTGCC	0.607																																						uc003yqw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(5)|central_nervous_system(1)	11						c.(3439-3441)CCC>CTC		fer-1-like 6							79.0	86.0	84.0					8																	125076699		2027	4178	6205	SO:0001583	missense	654463					integral to membrane		g.chr8:125076699C>T	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.3440C>T	8.37:g.125076699C>T	ENSP00000428280:p.Pro1147Leu					uc003yqy.1_Intron	p.P1147L	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		26	3646	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1147			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000522917.1	37	c.3440C>T	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	C	6.880	0.531708	0.13127	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.80738	-1.41;-1.41	5.14	4.26	0.50523	.	2.733070	0.01611	U	0.022554	T	0.70657	0.3249	N	0.21448	0.665	0.18873	N	0.999987	B	0.06786	0.001	B	0.06405	0.002	T	0.54708	-0.8253	10	0.11182	T	0.66	0.1924	9.964	0.41712	0.0:0.9035:0.0:0.0965	.	1147	Q2WGJ9	FR1L6_HUMAN	L	1147	ENSP00000428280:P1147L;ENSP00000381982:P1147L	ENSP00000381982:P1147L	P	+	2	0	FER1L6	125145880	0.007000	0.16637	0.154000	0.22540	0.128000	0.20619	1.583000	0.36579	2.396000	0.81511	0.462000	0.41574	CCC		0.607	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		78	104	0	0	0	0	78	104				
ASAP1	50807	broad.mit.edu	37	8	131249206	131249206	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr8:131249206A>T	ENST00000518721.1	-	4	448	c.221T>A	c.(220-222)gTg>gAg	p.V74E	ASAP1_ENST00000357668.1_Missense_Mutation_p.V74E	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	74					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						AGACTTCTTCACTTTCTGAAG	0.294																																						uc003yta.1		NA																	0				ovary(4)	4						c.(220-222)GTG>GAG		development and differentiation enhancing factor							59.0	58.0	58.0					8																	131249206		2203	4295	6498	SO:0001583	missense	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131249206A>T	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.221T>A	8.37:g.131249206A>T	ENSP00000429900:p.Val74Glu					ASAP1_uc011liw.1_Missense_Mutation_p.V67E	p.V74E	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN			3	249	-			74					B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.221T>A	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.480876	0.84747	.	.	ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721;ENST00000524367;ENST00000521426	T;T;T;T	0.05025	3.51;3.51;3.51;3.51	5.45	5.45	0.79879	IRSp53/MIM homology domain (IMD) (1);	0.130461	0.50627	D	0.000103	T	0.12050	0.0293	L	0.29908	0.895	0.80722	D	1	D;D	0.67145	0.996;0.996	P;P	0.56788	0.806;0.806	T	0.01904	-1.1250	10	0.87932	D	0	.	13.4793	0.61326	1.0:0.0:0.0:0.0	.	74;74	B2RNV3;Q9ULH1	.;ASAP1_HUMAN	E	74;74;74;44;67	ENSP00000350297:V74E;ENSP00000429900:V74E;ENSP00000430588:V44E;ENSP00000430917:V67E	ENSP00000344591:V74E	V	-	2	0	ASAP1	131318388	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.312000	0.78968	2.060000	0.61445	0.528000	0.53228	GTG		0.294	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		37	79	0	0	0	0	37	79				
TG	7038	broad.mit.edu	37	8	134042084	134042084	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr8:134042084G>T	ENST00000220616.4	+	41	7095	c.7055G>T	c.(7054-7056)gGc>gTc	p.G2352V	TG_ENST00000519543.1_Missense_Mutation_p.G485V|TG_ENST00000542445.1_Missense_Mutation_p.G722V|TG_ENST00000377869.1_Missense_Mutation_p.G2295V	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2352					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAGGTGAGTGGCAACTGGGGG	0.572																																						uc003ytw.2		NA																	0				ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(7054-7056)GGC>GTC		thyroglobulin precursor							44.0	49.0	47.0					8																	134042084		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134042084G>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7055G>T	8.37:g.134042084G>T	ENSP00000220616:p.Gly2352Val					TG_uc010mdw.2_Missense_Mutation_p.G1111V|TG_uc011ljb.1_Missense_Mutation_p.G721V|TG_uc011ljc.1_Missense_Mutation_p.G485V	p.G2352V	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	41	7096	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	2352					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.7055G>T	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.1|22.1	4.245291|4.245291	0.80024|0.80024	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543|ENST00000519178;ENST00000518108	T;T;T;T|.	0.78364|.	-1.17;-1.17;-1.17;-1.17|.	5.34|5.34	5.34|5.34	0.76211|0.76211	Carboxylesterase, type B (1);|.	0.207894|.	0.40385|.	N|.	0.001110|.	D|D	0.87509|0.87509	0.6195|0.6195	H|H	0.95504|0.95504	3.68|3.68	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;0.999;1.0|.	D|D	0.91177|0.91177	0.4973|0.4973	10|5	0.87932|.	D|.	0|.	.|.	17.6154|17.6154	0.88066|0.88066	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	485;722;2352|.	E7EVM0;F5GWW5;P01266|.	.;.;THYG_HUMAN|.	V|C	2295;1158;2352;722;485|807;147	ENSP00000367100:G2295V;ENSP00000220616:G2352V;ENSP00000441693:G722V;ENSP00000430430:G485V|.	ENSP00000220616:G2352V|.	G|W	+|+	2|3	0|0	TG|TG	134111266|134111266	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.812000|0.812000	0.45895|0.45895	8.686000|8.686000	0.91250|0.91250	2.501000|2.501000	0.84356|0.84356	0.462000|0.462000	0.41574|0.41574	GGC|TGG		0.572	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		26	47	1	0	2.61e-14	3.14e-14	26	47				
SCRIB	23513	broad.mit.edu	37	8	144893221	144893221	+	Silent	SNP	C	C	T	rs146561937		TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr8:144893221C>T	ENST00000320476.3	-	11	1134	c.1128G>A	c.(1126-1128)gcG>gcA	p.A376A	MIR937_ENST00000401271.1_RNA|SCRIB_ENST00000356994.2_Silent_p.A376A|SCRIB_ENST00000377533.3_Silent_p.A295A	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	376	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGTGGGTGAGCGCGAACGGCA	0.687													C|||	1	0.000199681	0.0	0.0	5008	,	,		16196	0.0		0.001	False		,,,				2504	0.0				Pancreas(51;966 1133 10533 14576 29674)	uc003yzp.1		NA																	0				urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5						c.(1126-1128)GCG>GCA		scribble isoform b		C	,	2,4402		0,2,2200	23.0	25.0	24.0		1128,1128	-8.1	0.0	8	dbSNP_134	24	16,8582		0,16,4283	yes	coding-synonymous,coding-synonymous	SCRIB	NM_015356.3,NM_182706.3	,	0,18,6483	TT,TC,CC		0.1861,0.0454,0.1384	,	376/1631,376/1656	144893221	18,12984	2202	4299	6501	SO:0001819	synonymous_variant	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144893221C>T	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.1128G>A	8.37:g.144893221C>T						SCRIB_uc003yzo.1_Silent_p.A376A	p.A376A	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		11	1135	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		376			Sufficient for targeting to adherens junction and to inhibit cell proliferation.|LRR 15.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	ENST00000320476.3	37	c.1128G>A	CCDS6411.1																																																																																				0.687	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		6	10	0	0	0	0	6	10				
LINGO2	158038	broad.mit.edu	37	9	27950604	27950604	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr9:27950604C>G	ENST00000379992.2	-	6	515	c.66G>C	c.(64-66)atG>atC	p.M22I	LINGO2_ENST00000308675.3_Missense_Mutation_p.M22I	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	22						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TGGTGGATCCCATGAAGATTA	0.542																																						uc003zqu.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(64-66)ATG>ATC		leucine rich repeat and Ig domain containing 2							73.0	62.0	66.0					9																	27950604		2203	4300	6503	SO:0001583	missense	158038					integral to membrane		g.chr9:27950604C>G	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.66G>C	9.37:g.27950604C>G	ENSP00000369328:p.Met22Ile					LINGO2_uc010mjf.1_Missense_Mutation_p.M22I|LINGO2_uc003zqv.1_Missense_Mutation_p.M22I	p.M22I	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	2	260	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	22					A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	c.66G>C	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.597860	0.46318	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.54866	0.55;0.55	5.74	5.74	0.90152	.	0.041854	0.85682	D	0.000000	T	0.34978	0.0916	N	0.20685	0.6	0.47584	D	0.999465	B	0.09022	0.002	B	0.12156	0.007	T	0.16247	-1.0409	9	.	.	.	.	10.2111	0.43141	0.1355:0.7948:0.0:0.0697	.	22	Q7L985	LIGO2_HUMAN	I	22	ENSP00000369328:M22I;ENSP00000310126:M22I	.	M	-	3	0	LINGO2	27940604	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.397000	0.34543	2.873000	0.98535	0.561000	0.74099	ATG		0.542	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		4	55	0	0	0	0	4	55				
PAX5	5079	broad.mit.edu	37	9	37015148	37015148	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr9:37015148A>G	ENST00000358127.4	-	3	330	c.256T>C	c.(256-258)Tcc>Ccc	p.S86P	PAX5_ENST00000377847.2_Missense_Mutation_p.S86P|PAX5_ENST00000523145.1_5'UTR|PAX5_ENST00000377852.2_Missense_Mutation_p.S86P|PAX5_ENST00000520281.1_Missense_Mutation_p.S86P|PAX5_ENST00000523241.1_Missense_Mutation_p.S86P|PAX5_ENST00000522003.1_5'UTR|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000520154.1_Missense_Mutation_p.S86P|PAX5_ENST00000414447.1_Missense_Mutation_p.S86P|PAX5_ENST00000377853.2_Missense_Mutation_p.S86P	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	86	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.?(42)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		TTTGGTTTGGATCCTCCAATT	0.483			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""																																	uc003zzo.1		NA		Dom	yes		9	9p13	5079	T|Mis|D|F|S	paired box gene 5 (B-cell lineage specific activator protein)			L	IGH@|ETV6|PML|FOXP1|ZNF521|ELN		NHL|ALL|B-ALL	PAX5/JAK2(18)	42	Unknown(42)	p.?(32)	haematopoietic_and_lymphoid_tissue(42)	haematopoietic_and_lymphoid_tissue(142)|lung(3)|central_nervous_system(2)	147						c.(256-258)TCC>CCC		paired box 5							230.0	232.0	232.0					9																	37015148		2203	4300	6503	SO:0001583	missense	5079				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr9:37015148A>G		CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"""Paired boxes"", ""Homeoboxes / PRD class"""	8619	protein-coding gene	gene with protein product	"""B-cell lineage specific activator"""	167414	"""paired box gene 5 (B-cell lineage specific activator protein)"", ""paired box gene 5 (B-cell lineage specific activator)"""			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.256T>C	9.37:g.37015148A>G	ENSP00000350844:p.Ser86Pro					PAX5_uc011lpw.1_Missense_Mutation_p.S86P|PAX5_uc011lpx.1_Intron|PAX5_uc011lpy.1_5'UTR|PAX5_uc010mls.1_Missense_Mutation_p.S86P|PAX5_uc011lpz.1_Missense_Mutation_p.S86P|PAX5_uc011lqa.1_5'UTR|PAX5_uc010mlq.1_RNA|PAX5_uc011lqb.1_RNA|PAX5_uc010mlo.1_Missense_Mutation_p.S86P|PAX5_uc010mlp.1_Missense_Mutation_p.S86P|PAX5_uc011lqc.1_Missense_Mutation_p.S86P|PAX5_uc010mlr.1_Missense_Mutation_p.S86P|PAX5_uc011lqd.1_Intron|PAX5_uc011lqe.1_RNA|PAX5_uc011lqf.1_Intron|PAX5_uc011lqg.1_RNA	p.S86P	NM_016734	NP_057953	Q02548	PAX5_HUMAN		GBM - Glioblastoma multiforme(29;0.0108)	3	704	-		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)	86			Paired.		A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Missense_Mutation	SNP	ENST00000358127.4	37	c.256T>C	CCDS6607.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.225316	0.79576	.	.	ENSG00000196092	ENST00000358127;ENST00000377853;ENST00000377852;ENST00000523241;ENST00000520154;ENST00000520281;ENST00000414447;ENST00000377847	D;D;D;D;D;D;D;D	0.99409	-5.85;-5.85;-5.85;-5.85;-5.85;-5.85;-5.85;-5.85	5.68	5.68	0.88126	Paired box protein, N-terminal (4);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.134911	0.51477	D	0.000081	D	0.99594	0.9853	M	0.91972	3.26	0.80722	D	1	P;D;P;D;D;P;P;P	0.76494	0.956;0.991;0.956;0.999;0.992;0.956;0.956;0.956	D;P;D;D;D;D;D;D	0.70935	0.911;0.834;0.911;0.971;0.935;0.911;0.911;0.911	D	0.97925	1.0317	10	0.87932	D	0	.	15.9657	0.79968	1.0:0.0:0.0:0.0	.	86;86;86;86;86;86;86;86	C0KTF8;C0KTF7;C0KTF6;E7ERW5;E7EQT0;Q6S730;Q6S731;Q02548	.;.;.;.;.;.;.;PAX5_HUMAN	P	86	ENSP00000350844:S86P;ENSP00000367084:S86P;ENSP00000367083:S86P;ENSP00000429637:S86P;ENSP00000429291:S86P;ENSP00000430773:S86P;ENSP00000412188:S86P;ENSP00000367078:S86P	ENSP00000350844:S86P	S	-	1	0	PAX5	37005148	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.122000	0.71608	2.172000	0.68678	0.529000	0.55759	TCC		0.483	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1			155	203	0	0	0	0	155	203				
HSDL2	84263	broad.mit.edu	37	9	115216373	115216373	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr9:115216373A>G	ENST00000398805.3	+	9	1173	c.946A>G	c.(946-948)Att>Gtt	p.I316V	HSDL2_ENST00000398803.1_Missense_Mutation_p.I243V|HSDL2_ENST00000488101.1_3'UTR|HSDL2_ENST00000262542.7_Missense_Mutation_p.I196V|HSDL2_ENST00000539114.1_Missense_Mutation_p.I111V	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	316	SCP2.					membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						AACATTTAGAATTGTTAAGGA	0.398																																						uc004bga.1		NA																	0					0						c.(946-948)ATT>GTT		hydroxysteroid dehydrogenase like 2							143.0	130.0	134.0					9																	115216373		1870	4102	5972	SO:0001583	missense	84263					peroxisome	oxidoreductase activity|sterol binding	g.chr9:115216373A>G	AY093428	CCDS43864.1, CCDS56582.1	9q32	2011-09-14			ENSG00000119471	ENSG00000119471		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18572	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 13C, member 1"""		"""chromosome 9 open reading frame 99"""	C9orf99		12834046, 19027726	Standard	NM_032303		Approved	SDR13C1	uc004bga.2	Q6YN16	OTTHUMG00000020504	ENST00000398805.3:c.946A>G	9.37:g.115216373A>G	ENSP00000381785:p.Ile316Val					HSDL2_uc011lwv.1_Missense_Mutation_p.I195V|HSDL2_uc004bgb.1_Missense_Mutation_p.I150V|HSDL2_uc004bgc.1_Missense_Mutation_p.I243V|HSDL2_uc011lww.1_Missense_Mutation_p.I111V	p.I316V	NM_032303	NP_115679	Q6YN16	HSDL2_HUMAN			9	1039	+			316			SCP2.		A8K1L4|A8K8X1|A8MSV3|Q658M8|Q9BT58	Missense_Mutation	SNP	ENST00000398805.3	37	c.946A>G	CCDS43864.1	.	.	.	.	.	.	.	.	.	.	A	13.44	2.239337	0.39598	.	.	ENSG00000119471	ENST00000398805;ENST00000398803;ENST00000262542;ENST00000539114	D;T;T;T	0.82344	-1.6;2.0;2.01;2.01	5.94	5.94	0.96194	SCP2 sterol-binding domain (1);NAD(P)-binding domain (1);	0.380270	0.32719	N	0.005737	T	0.71762	0.3378	N	0.05306	-0.075	0.34819	D	0.738515	B;B;B	0.31640	0.165;0.333;0.004	B;B;B	0.39660	0.041;0.306;0.012	T	0.76865	-0.2801	10	0.27785	T	0.31	.	13.9123	0.63876	1.0:0.0:0.0:0.0	.	243;243;316	Q6YN16-2;B2R923;Q6YN16	.;.;HSDL2_HUMAN	V	316;243;196;111	ENSP00000381785:I316V;ENSP00000381783:I243V;ENSP00000262542:I196V;ENSP00000442278:I111V	ENSP00000262542:I196V	I	+	1	0	HSDL2	114256194	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	3.435000	0.52849	2.276000	0.75962	0.397000	0.26171	ATT		0.398	HSDL2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053681.1	NM_032303		81	159	0	0	0	0	81	159				
NUP188	23511	broad.mit.edu	37	9	131743547	131743547	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr9:131743547A>G	ENST00000372577.2	+	15	1415	c.1394A>G	c.(1393-1395)tAt>tGt	p.Y465C		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	465					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TGGCAGGTGTATAGCTTCTTG	0.423																																						uc004bws.1		NA																	0				ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						c.(1393-1395)TAT>TGT		nucleoporin 188kDa							204.0	205.0	204.0					9																	131743547		2203	4300	6503	SO:0001583	missense	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131743547A>G	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.1394A>G	9.37:g.131743547A>G	ENSP00000361658:p.Tyr465Cys						p.Y465C	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN			15	1416	+			465					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	c.1394A>G	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	A	16.75	3.210797	0.58343	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.63744	-0.06	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.68559	0.3014	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73007	-0.4118	10	0.87932	D	0	-18.2282	14.3552	0.66733	1.0:0.0:0.0:0.0	.	465	Q5SRE5	NU188_HUMAN	C	354;465	ENSP00000361658:Y465C	ENSP00000349125:Y354C	Y	+	2	0	NUP188	130783368	1.000000	0.71417	0.987000	0.45799	0.437000	0.31866	8.910000	0.92685	2.049000	0.60858	0.334000	0.21626	TAT		0.423	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			107	335	0	0	0	0	107	335				
ARHGAP6	395	broad.mit.edu	37	X	11204464	11204464	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chrX:11204464C>A	ENST00000337414.4	-	5	2037	c.1165G>T	c.(1165-1167)Gct>Tct	p.A389S	ARHGAP6_ENST00000413512.3_Missense_Mutation_p.A198S|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.A214S|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.A389S|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.A421S|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.A186S|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.A186S	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	389					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TTACTTTGAGCCTCAGCAGGC	0.463																																						uc004cup.1		NA																	0				urinary_tract(1)|lung(1)	2						c.(1165-1167)GCT>TCT		Rho GTPase activating protein 6 isoform 1							164.0	145.0	152.0					X																	11204464		2203	4300	6503	SO:0001583	missense	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11204464C>A	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.1165G>T	X.37:g.11204464C>A	ENSP00000338967:p.Ala389Ser					ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.A389S|ARHGAP6_uc004cum.1_Missense_Mutation_p.A186S|ARHGAP6_uc004cun.1_Missense_Mutation_p.A209S|ARHGAP6_uc010neb.1_Missense_Mutation_p.A211S|ARHGAP6_uc011mif.1_Missense_Mutation_p.A186S	p.A389S	NM_013427	NP_038286	O43182	RHG06_HUMAN			5	2038	-			389					B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	ENST00000337414.4	37	c.1165G>T	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.880431	0.33255	.	.	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414;ENST00000380717;ENST00000380718;ENST00000413512;ENST00000380732	T;T;T;T;T;T;T;T	0.24723	1.85;1.97;1.97;1.91;1.84;1.86;1.89;1.92	5.51	4.62	0.57501	.	0.116776	0.37715	N	0.001970	T	0.11153	0.0272	N	0.08118	0	0.35506	D	0.800181	B;B;B;B;B	0.22146	0.0;0.003;0.065;0.047;0.047	B;B;B;B;B	0.18263	0.001;0.003;0.021;0.008;0.012	T	0.21793	-1.0235	10	0.11485	T	0.65	.	9.1692	0.37069	0.0:0.7784:0.1429:0.0787	.	198;186;389;389;389	B7Z8H7;O43182-5;O43182-2;O43182;A8KAL3	.;.;.;RHG06_HUMAN;.	S	214;186;186;389;225;389;198;421	ENSP00000438135:A214S;ENSP00000370112:A186S;ENSP00000302312:A186S;ENSP00000338967:A389S;ENSP00000370093:A225S;ENSP00000370094:A389S;ENSP00000389394:A198S;ENSP00000370108:A421S	ENSP00000302312:A186S	A	-	1	0	ARHGAP6	11114385	0.985000	0.35326	0.602000	0.28890	0.937000	0.57800	1.774000	0.38573	2.315000	0.78130	0.600000	0.82982	GCT		0.463	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		163	103	1	0	9.35e-79	1.25e-78	163	103				
IL1RAPL1	11141	broad.mit.edu	37	X	29972680	29972680	+	Missense_Mutation	SNP	G	G	T	rs200026480		TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chrX:29972680G>T	ENST00000378993.1	+	10	1916	c.1243G>T	c.(1243-1245)Gat>Tat	p.D415Y	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.D415Y	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	415	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						CACCAAAGTGGATCCTGACCA	0.358																																						uc004dby.2		NA																	0				ovary(3)|lung(1)|pancreas(1)	5						c.(1243-1245)GAT>TAT		interleukin 1 receptor accessory protein-like 1							95.0	79.0	85.0					X																	29972680		2202	4300	6502	SO:0001583	missense	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29972680G>T	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.1243G>T	X.37:g.29972680G>T	ENSP00000368278:p.Asp415Tyr						p.D415Y	NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN			10	1751	+			415			Cytoplasmic (Potential).|TIR.		A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	c.1243G>T	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.676952	0.88445	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.05855	3.38;3.38	5.72	5.72	0.89469	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.050200	0.85682	D	0.000000	T	0.21022	0.0506	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.00243	-1.1884	9	.	.	.	.	18.846	0.92208	0.0:0.0:1.0:0.0	.	415	Q9NZN1	IRPL1_HUMAN	Y	415	ENSP00000368278:D415Y;ENSP00000305200:D415Y	.	D	+	1	0	IL1RAPL1	29882601	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.397000	0.81536	0.594000	0.82650	GAT		0.358	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		48	29	1	0	3.68e-26	4.63e-26	48	29				
CXorf22	170063	broad.mit.edu	37	X	36007603	36007603	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chrX:36007603G>T	ENST00000297866.5	+	16	2947	c.2881G>T	c.(2881-2883)Ggc>Tgc	p.G961C		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	961										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TTGTTTTGAGGGCTATGAATT	0.328																																						uc004ddj.2		NA																	0				large_intestine(1)|lung(1)|ovary(1)	3						c.(2881-2883)GGC>TGC		hypothetical protein LOC170063							149.0	123.0	132.0					X																	36007603		2202	4300	6502	SO:0001583	missense	170063							g.chrX:36007603G>T	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.2881G>T	X.37:g.36007603G>T	ENSP00000297866:p.Gly961Cys					CXorf22_uc010ngv.2_RNA	p.G961C	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN			16	2940	+			961					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.2881G>T	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300430	0.40694	.	.	ENSG00000165164	ENST00000297866	T	0.14516	2.5	5.1	0.65	0.17812	.	3.070210	0.00888	N	0.002214	T	0.23965	0.0580	L	0.43152	1.355	0.09310	N	1	D	0.65815	0.995	P	0.58873	0.847	T	0.06807	-1.0806	10	0.56958	D	0.05	-23.8298	3.485	0.07617	0.2292:0.0:0.3753:0.3955	.	961	Q6ZTR5	CX022_HUMAN	C	961	ENSP00000297866:G961C	ENSP00000297866:G961C	G	+	1	0	CXorf22	35917524	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.031000	0.12287	0.082000	0.17018	-0.390000	0.06520	GGC		0.328	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		41	31	1	0	1.6e-28	2.03e-28	41	31				
CAPZB	832	broad.mit.edu	37	1	19670883	19670884	+	Frame_Shift_Ins	INS	-	-	A	rs138529514	byFrequency	TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr1:19670883_19670884insA	ENST00000375142.1	-	8	745_746	c.699_700insT	c.(697-702)tttggafs	p.G234fs	CAPZB_ENST00000264203.3_Intron|CAPZB_ENST00000433834.1_Frame_Shift_Ins_p.G263fs|CAPZB_ENST00000264202.6_Frame_Shift_Ins_p.G234fs|CAPZB_ENST00000375144.1_Frame_Shift_Ins_p.G222fs|CAPZB_ENST00000401084.2_Frame_Shift_Ins_p.G234fs	NM_001206540.1	NP_001193469.1	P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	234					actin cytoskeleton organization (GO:0030036)|barbed-end actin filament capping (GO:0051016)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|muscle fiber development (GO:0048747)|negative regulation of microtubule polymerization (GO:0031115)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)|regulation of protein kinase C signaling (GO:0090036)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|membrane (GO:0016020)|WASH complex (GO:0071203)|Z disc (GO:0030018)	actin binding (GO:0003779)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		TTTGTTTTTCCAAAGTAGATCT	0.485											OREG0013171	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010ocz.1		NA																	0					0						c.(784-789)TTTGGAfs		F-actin capping protein beta subunit																																				SO:0001589	frameshift_variant	832				actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding	g.chr1:19670883_19670884insA	U03271	CCDS41277.1, CCDS55579.1, CCDS72717.1, CCDS72718.1	1p36.1	2014-05-09			ENSG00000077549	ENSG00000077549			1491	protein-coding gene	gene with protein product		601572					Standard	NM_004930		Approved		uc021ohr.1	P47756	OTTHUMG00000002556	ENST00000375142.1:c.700dupT	1.37:g.19670886_19670886dupA	ENSP00000364284:p.Gly234fs		OREG0013171	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	735	CAPZB_uc001bce.2_Frame_Shift_Ins_p.F233fs|CAPZB_uc009vpk.2_Intron|CAPZB_uc001bcd.2_Frame_Shift_Ins_p.F221fs	p.F262fs	NM_004930	NP_004921	P47756	CAPZB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)	8	1214_1215	-		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)	233_234					Q32Q68|Q5U0L4|Q8TB49|Q9NUC4	Frame_Shift_Ins	INS	ENST00000375142.1	37	c.786_787insT	CCDS55579.1																																																																																				0.485	CAPZB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007260.1			41	98	NA	NA	NA	NA	41	98	---	---	---	---
PFKP	5214	broad.mit.edu	37	10	3178723	3178724	+	Frame_Shift_Ins	INS	-	-	A	rs562235338|rs34180069	byFrequency	TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr10:3178723_3178724insA	ENST00000381125.4	+	22	2383_2384	c.2307_2308insA	c.(2308-2310)gtgfs	p.V770fs	PITRM1_ENST00000464395.1_5'Flank|PFKP_ENST00000381075.2_Frame_Shift_Ins_p.V762fs|PFKP_ENST00000381072.1_Frame_Shift_Ins_p.V188fs	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	770	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CCAGCTATGACGTGTCGGACTC	0.564																																						uc001igp.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3						c.(2305-2310)GACGTGfs		phosphofructokinase, platelet																																				SO:0001589	frameshift_variant	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3178723_3178724insA	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"""Phosphofructokinase, platelet type"""	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	Exception_encountered	10.37:g.3178723_3178724insA	ENSP00000370517:p.Val770fs					PFKP_uc001igq.2_Frame_Shift_Ins_p.D761fs|PFKP_uc009xhr.2_Frame_Shift_Ins_p.D731fs|PFKP_uc009xht.2_Frame_Shift_Ins_p.D507fs|PFKP_uc009xhu.2_Frame_Shift_Ins_p.D275fs	p.D769fs	NM_002627	NP_002618	Q01813	K6PP_HUMAN		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	22	2343_2344	+			769_770					B3KS15|Q5VSR7|Q5VSR8	Frame_Shift_Ins	INS	ENST00000381125.4	37	c.2307_2308insA	CCDS7059.1																																																																																				0.564	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627		15	35	NA	NA	NA	NA	15	35	---	---	---	---
UHRF1BP1L	23074	broad.mit.edu	37	12	100502306	100502319	+	Frame_Shift_Del	DEL	GGAGATAAATTTTT	GGAGATAAATTTTT	-			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr12:100502306_100502319delGGAGATAAATTTTT	ENST00000279907.7	-	2	264_277	c.52_65delAAAAATTTATCTCC	c.(52-66)aaaaatttatctcctfs	p.KNLSP18fs	UHRF1BP1L_ENST00000356828.3_Frame_Shift_Del_p.KNLSP18fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	18										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TATCTTGTCAGGAGATAAATTTTTGGTAAATCTG	0.313																																						uc001tgq.2		NA																	0				ovary(2)	2						c.(52-66)AAAAATTTATCTCCTfs		UHRF1 (ICBP90) binding protein 1-like isoform a																																				SO:0001589	frameshift_variant	23074							g.chr12:100502306_100502319delGGAGATAAATTTTT		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.52_65delAAAAATTTATCTCC	12.37:g.100502306_100502319delGGAGATAAATTTTT	ENSP00000279907:p.Lys18fs					UHRF1BP1L_uc001tgr.2_Frame_Shift_Del_p.K18fs	p.K18fs	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN			2	281_294	-			18_22					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Frame_Shift_Del	DEL	ENST00000279907.7	37	c.52_65delAAAAATTTATCTCC	CCDS31882.1																																																																																				0.313	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		30	88	NA	NA	NA	NA	30	88	---	---	---	---
ADAM33	80332	broad.mit.edu	37	20	3655704	3655704	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr20:3655704delC	ENST00000356518.2	-	4	544	c.303delG	c.(301-303)gggfs	p.G101fs	ADAM33_ENST00000379861.4_Frame_Shift_Del_p.G101fs|ADAM33_ENST00000350009.2_Frame_Shift_Del_p.G101fs|ADAM33_ENST00000466620.1_5'Flank	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	101					proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						CCACTGGCTGCCCATCTGGGC	0.612																																						uc002wit.2		NA																	0				large_intestine(2)|ovary(1)|skin(1)	4						c.(301-303)GGGfs		ADAM metallopeptidase domain 33 isoform alpha							52.0	54.0	53.0					20																	3655704		2203	4300	6503	SO:0001589	frameshift_variant	80332				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr20:3655704delC	AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"""ADAM metallopeptidase domain containing"""	15478	protein-coding gene	gene with protein product		607114	"""a disintegrin and metalloproteinase domain 33"", ""chromosome 20 open reading frame 153"""	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.303delG	20.37:g.3655704delC	ENSP00000348912:p.Gly101fs					ADAM33_uc002wir.1_Frame_Shift_Del_p.G101fs|ADAM33_uc002wis.2_5'Flank|ADAM33_uc002wiu.2_Frame_Shift_Del_p.G101fs|ADAM33_uc002wiw.1_RNA|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Frame_Shift_Del_p.G100fs|ADAM33_uc010zqg.1_Frame_Shift_Del_p.G100fs|ADAM33_uc010zqh.1_Frame_Shift_Del_p.G101fs	p.G101fs	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN			4	390	-			101			Extracellular (Potential).		A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Frame_Shift_Del	DEL	ENST00000356518.2	37	c.303delG	CCDS13058.1																																																																																				0.612	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2	NM_025220		14	18	NA	NA	NA	NA	14	18	---	---	---	---
BID	637	broad.mit.edu	37	22	18222188	18222189	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr22:18222188_18222189insT	ENST00000399774.3	-	4	458_459	c.289_290insA	c.(289-291)atgfs	p.M97fs	BID_ENST00000399767.1_Start_Codon_Ins|BID_ENST00000473439.1_5'UTR|BID_ENST00000317361.7_Frame_Shift_Ins_p.M143fs|BID_ENST00000551952.1_Frame_Shift_Ins_p.M97fs|BID_ENST00000399765.1_Start_Codon_Ins|BID_ENST00000342111.5_Frame_Shift_Ins_p.W129fs	NM_001196.3|NM_001244569.1	NP_001187.1|NP_001231498.1	P55957	BID_HUMAN	BH3 interacting domain death agonist	97					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|brain development (GO:0007420)|establishment of protein localization to membrane (GO:0090150)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glial cell apoptotic process (GO:0034349)|intrinsic apoptotic signaling pathway (GO:0097193)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of protein homooligomerization (GO:0032464)|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 release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of cell proliferation (GO:0042127)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|release of cytochrome c from mitochondria (GO:0001836)|response to estradiol (GO:0032355)|signal transduction in response to DNA damage (GO:0042770)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial membrane (GO:0032592)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	death receptor binding (GO:0005123)			large_intestine(2)|ovary(1)	3		all_epithelial(15;0.198)		Lung(27;0.0419)		GCTACGGTCCATGCTGTCCCCG	0.629																																						uc002znd.1		NA																	0					0						c.(289-291)ATGfs		BH3 interacting domain death agonist isoform 2																																				SO:0001589	frameshift_variant	637				activation of pro-apoptotic gene products|establishment of protein localization in membrane|induction of apoptosis by intracellular signals|induction of apoptosis via death domain receptors|neuron apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|release of cytochrome c from mitochondria	cytosol|membrane fraction|mitochondrial outer membrane	death receptor binding	g.chr22:18222188_18222189insT	AF042083	CCDS13747.1, CCDS13748.1, CCDS13749.1	22q11.2	2014-03-07			ENSG00000015475	ENSG00000015475		"""Endogenous ligands"""	1050	protein-coding gene	gene with protein product		601997				8918887, 9721221	Standard	NM_001244567		Approved		uc002znc.2	P55957	OTTHUMG00000150087	ENST00000399774.3:c.290dupA	22.37:g.18222189_18222189dupT	ENSP00000382674:p.Met97fs					BID_uc002znc.1_Frame_Shift_Ins_p.M143fs|BID_uc002zne.1_Frame_Shift_Ins_p.M1fs|BID_uc010gra.1_RNA|BID_uc002znf.1_Frame_Shift_Ins_p.M1fs|BID_uc010grb.1_Frame_Shift_Ins_p.M97fs|BID_uc010grc.1_Frame_Shift_Ins_p.M1fs	p.M97fs	NM_001196	NP_001187	P55957	BID_HUMAN		Lung(27;0.0419)	4	459_460	-		all_epithelial(15;0.198)	97			BH3.		Q549M7|Q71T04|Q7Z4M9|Q8IY86	Frame_Shift_Ins	INS	ENST00000399774.3	37	c.289_290insA	CCDS13748.1																																																																																				0.629	BID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316178.1	NM_197966		23	56	NA	NA	NA	NA	23	56	---	---	---	---
OTOP1	133060	broad.mit.edu	37	4	4204225	4204229	+	Frame_Shift_Del	DEL	TTGAG	TTGAG	-	rs369956607		TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr4:4204225_4204229delTTGAG	ENST00000296358.4	-	4	700_704	c.676_680delCTCAA	c.(676-681)ctcaatfs	p.LN226fs		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	226					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.L226fs*1(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTTGTGCTCATTGAGTTGGTGCTTT	0.502																																						uc003ghp.1		NA																	1	Deletion - Frameshift(1)		liver(1)	ovary(2)|central_nervous_system(1)	3						c.(676-681)CTCAATfs		otopetrin 1																																				SO:0001589	frameshift_variant	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4204225_4204229delTTGAG	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.676_680delCTCAA	4.37:g.4204225_4204229delTTGAG	ENSP00000296358:p.Leu226fs						p.L226fs	NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	4	706_710	-			226_227					A1L476	Frame_Shift_Del	DEL	ENST00000296358.4	37	c.676_680delCTCAA	CCDS3372.1																																																																																				0.502	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		8	202	NA	NA	NA	NA	8	202	---	---	---	---
CUL9	23113	broad.mit.edu	37	6	43153942	43153943	+	Frame_Shift_Ins	INS	-	-	C	rs537623008		TCGA-BA-5555-01A-01D-1512-08	TCGA-BA-5555-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	65dc1531-713b-41ba-a567-caa12340c0cf	7c55fb6b-c9eb-4d2c-bd12-52d94e821743	g.chr6:43153942_43153943insC	ENST00000252050.4	+	4	1084_1085	c.1000_1001insC	c.(1000-1002)accfs	p.T334fs	CUL9_ENST00000354495.3_Frame_Shift_Ins_p.T334fs|CUL9_ENST00000372647.2_Frame_Shift_Ins_p.T334fs	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	334					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TCCCCGGCCAACCCGGTCCATC	0.614																																						uc003ouk.2		NA																	0				ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						c.(1000-1002)ACCfs		p53-associated parkin-like cytoplasmic protein																																				SO:0001589	frameshift_variant	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43153942_43153943insC	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.1003dupC	6.37:g.43153945_43153945dupC	ENSP00000252050:p.Thr334fs					CUL9_uc003ouj.1_Frame_Shift_Ins_p.T334fs|CUL9_uc003oul.2_Frame_Shift_Ins_p.T334fs|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_5'Flank	p.T334fs	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN			4	1075_1076	+			334					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Frame_Shift_Ins	INS	ENST00000252050.4	37	c.1000_1001insC	CCDS4890.1																																																																																				0.614	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		50	243	NA	NA	NA	NA	50	243	---	---	---	---
