#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
PRAMEF11	440560	broad.mit.edu	37	1	12887612	12887612	+	Missense_Mutation	SNP	T	T	C	rs60558629	byFrequency	TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:12887612T>C	ENST00000535591.1	-	3	440	c.245A>G	c.(244-246)cAt>cGt	p.H82R		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	82					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.H82R(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAAGCACCCATGGGCCATAGC	0.488													.|||	6	0.00119808	0.0015	0.0014	5008	,	,		19834	0.001		0.002	False		,,,				2504	0.0					uc001auk.2		NA																	1	Substitution - Missense(1)		endometrium(1)		0						c.(244-246)CAT>CGT		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12887612T>C	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.245A>G	1.37:g.12887612T>C	ENSP00000439551:p.His82Arg						p.H82R	NM_001146344	NP_001139816	O60813	PRA11_HUMAN			3	441	-			82						Missense_Mutation	SNP	ENST00000535591.1	37	c.245A>G	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	0.046	-1.266700	0.01433	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.14766	2.48;2.48	1.48	-2.96	0.05547	.	7.429810	0.00166	N	0.000002	T	0.07818	0.0196	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22034	-1.0228	10	0.24483	T	0.36	.	3.1667	0.06538	0.0:0.2637:0.2217:0.5146	rs60558629	82	O60813	PRA11_HUMAN	R	82;123;82	ENSP00000439551:H82R;ENSP00000391839:H82R	ENSP00000328783:H123R	H	-	2	0	PRAMEF11	12810199	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.061000	0.11693	-1.287000	0.02381	-0.610000	0.04054	CAT		0.488	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		6	258	0	0	0	0	6	258				
PLEKHM2	23207	broad.mit.edu	37	1	16059015	16059015	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:16059015C>G	ENST00000375799.3	+	18	3023	c.2796C>G	c.(2794-2796)taC>taG	p.Y932*	PLEKHM2_ENST00000375793.2_Nonsense_Mutation_p.Y912*|PLEKHM2_ENST00000477849.1_3'UTR|RP11-288I21.1_ENST00000453804.1_RNA	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	932					Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GCAAGGAGTACTGCGTCTTGG	0.632																																						uc010obo.1		NA																	0				ovary(1)	1						c.(2794-2796)TAC>TAG		pleckstrin homology domain containing, family M							29.0	35.0	33.0					1																	16059015		2033	4178	6211	SO:0001587	stop_gained	23207				Golgi organization	cytoplasm	kinesin binding	g.chr1:16059015C>G	AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"""Pleckstrin homology (PH) domain containing"""	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.2796C>G	1.37:g.16059015C>G	ENSP00000364956:p.Tyr932*						p.Y932*	NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	18	3023	+		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	932					O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Nonsense_Mutation	SNP	ENST00000375799.3	37	c.2796C>G	CCDS44063.1	.	.	.	.	.	.	.	.	.	.	C	41	9.013508	0.99037	.	.	ENSG00000116786	ENST00000375799;ENST00000375793	.	.	.	4.77	3.86	0.44501	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.8659	13.5229	0.61578	0.0:0.9239:0.0:0.0761	.	.	.	.	X	932;912	.	ENSP00000364950:Y912X	Y	+	3	2	PLEKHM2	15931602	1.000000	0.71417	0.999000	0.59377	0.917000	0.54804	2.203000	0.42752	1.150000	0.42419	-0.126000	0.14955	TAC		0.632	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008463.1	NM_015164		8	8	0	0	0	0	8	8				
COL24A1	255631	broad.mit.edu	37	1	86361734	86361734	+	Silent	SNP	A	A	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:86361734A>G	ENST00000370571.2	-	30	3213	c.2847T>C	c.(2845-2847)gaT>gaC	p.D949D	COL24A1_ENST00000436319.1_Silent_p.D949D	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	949	Collagen-like 8.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTTTTCCTTGATCTCCTTTTT	0.318																																						uc001dlj.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(2845-2847)GAT>GAC		collagen, type XXIV, alpha 1 precursor							93.0	85.0	87.0					1																	86361734		1827	4088	5915	SO:0001819	synonymous_variant	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86361734A>G	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.2847T>C	1.37:g.86361734A>G						COL24A1_uc001dli.2_Silent_p.D85D|COL24A1_uc010osd.1_Silent_p.D249D|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA	p.D949D	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	30	2889	-			949			Collagen-like 8.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Silent	SNP	ENST00000370571.2	37	c.2847T>C	CCDS41353.1																																																																																				0.318	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		10	26	0	0	0	0	10	26				
LRRC8D	55144	broad.mit.edu	37	1	90400516	90400516	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:90400516G>C	ENST00000337338.5	+	3	2296	c.1889G>C	c.(1888-1890)aGc>aCc	p.S630T	LRRC8D_ENST00000394593.3_Missense_Mutation_p.S630T	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	630					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GTACTGAACAGCCTTAAGAAA	0.418																																						uc001dnm.2		NA																	0				ovary(2)	2						c.(1888-1890)AGC>ACC		leucine rich repeat containing 8 family, member							73.0	72.0	72.0					1																	90400516		2203	4300	6503	SO:0001583	missense	55144					integral to membrane	protein binding	g.chr1:90400516G>C	AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"""leucine rich repeat containing 5"""	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.1889G>C	1.37:g.90400516G>C	ENSP00000338887:p.Ser630Thr					LRRC8D_uc001dnn.2_Missense_Mutation_p.S630T	p.S630T	NM_001134479	NP_001127951	Q7L1W4	LRC8D_HUMAN		all cancers(265;0.0109)|Epithelial(280;0.0427)	3	2314	+		all_lung(203;0.0894)|Lung NSC(277;0.227)	630			LRR 5.		D3DT29|Q6UWB2|Q9NVW3	Missense_Mutation	SNP	ENST00000337338.5	37	c.1889G>C	CCDS726.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.174637	0.38413	.	.	ENSG00000171492	ENST00000337338;ENST00000394593	T;T	0.26067	1.76;1.76	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.22898	0.0553	L	0.59436	1.845	0.58432	D	0.999997	P	0.38420	0.63	B	0.40602	0.334	T	0.01156	-1.1434	9	.	.	.	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	630	Q7L1W4	LRC8D_HUMAN	T	630	ENSP00000338887:S630T;ENSP00000378093:S630T	.	S	+	2	0	LRRC8D	90173104	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.753000	0.74904	2.884000	0.98904	0.655000	0.94253	AGC		0.418	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	NM_018103		6	65	0	0	0	0	6	65				
PSMB4	5692	broad.mit.edu	37	1	151373789	151373789	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:151373789C>A	ENST00000290541.6	+	5	705	c.651C>A	c.(649-651)tgC>tgA	p.C217*		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	217					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|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 polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	lipopolysaccharide binding (GO:0001530)|threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TAGAACGCTGCATGCGAGTGC	0.577																																						uc001eyc.1		NA																	0				ovary(2)	2						c.(649-651)TGC>TGA		proteasome beta 4 subunit							131.0	130.0	130.0					1																	151373789		2203	4300	6503	SO:0001587	stop_gained	5692				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr1:151373789C>A	D26600	CCDS996.1	1q21	2008-02-05			ENSG00000159377	ENSG00000159377		"""Proteasome (prosome, macropain) subunits"""	9541	protein-coding gene	gene with protein product		602177				7918633	Standard	NM_002796		Approved	HN3, PROS26	uc001eyc.1	P28070	OTTHUMG00000012494	ENST00000290541.6:c.651C>A	1.37:g.151373789C>A	ENSP00000290541:p.Cys217*					PSMB4_uc010pda.1_3'UTR|PSMB4_uc001eyb.1_3'UTR	p.C217*	NM_002796	NP_002787	P28070	PSB4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		5	674	+	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		217					B2R9L3|P31148|Q5SZS5|Q6IBI4|Q969L6	Nonsense_Mutation	SNP	ENST00000290541.6	37	c.651C>A	CCDS996.1	.	.	.	.	.	.	.	.	.	.	C	35	5.588284	0.96590	.	.	ENSG00000159377	ENST00000290541	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.081	16.1163	0.81306	0.0:1.0:0.0:0.0	.	.	.	.	X	217	.	ENSP00000290541:C217X	C	+	3	2	PSMB4	149640413	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.572000	0.45999	2.585000	0.87301	0.563000	0.77884	TGC		0.577	PSMB4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034885.1	NM_002796		25	146	1	0	3.08e-08	3.45e-08	25	146				
SMCP	4184	broad.mit.edu	37	1	152856943	152856943	+	Silent	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:152856943C>T	ENST00000368765.3	+	2	195	c.45C>T	c.(43-45)ggC>ggT	p.G15G		NM_030663.2	NP_109588.2	P49901	MCSP_HUMAN	sperm mitochondria-associated cysteine-rich protein	15	7 X 7 (OR 8) AA approximate repeats.				penetration of zona pellucida (GO:0007341)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGCAAAAGGCAATCAATGCT	0.458																																						uc001fat.2		NA																	0					0						c.(43-45)GGC>GGT		sperm mitochondria-associated cysteine-rich							95.0	86.0	89.0					1																	152856943		2203	4300	6503	SO:0001819	synonymous_variant	4184				penetration of zona pellucida|sperm motility	mitochondrial membrane		g.chr1:152856943C>T	BC014593	CCDS1029.1	1q21.3	2009-03-19	2005-10-06	2005-10-06	ENSG00000163206	ENSG00000163206			6962	protein-coding gene	gene with protein product		601148	"""mitochondrial capsule selenoprotein"""	MCSP		8833144	Standard	NM_030663		Approved		uc001fat.3	P49901	OTTHUMG00000012452	ENST00000368765.3:c.45C>T	1.37:g.152856943C>T							p.G15G	NM_030663	NP_109588	P49901	MCSP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	190	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		15			2.|7 X 7 (OR 8) AA approximate repeats.		Q96A42	Silent	SNP	ENST00000368765.3	37	c.45C>T	CCDS1029.1																																																																																				0.458	SMCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034665.1	NM_030663		16	48	0	0	0	0	16	48				
PRCC	5546	broad.mit.edu	37	1	156756890	156756890	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:156756890C>T	ENST00000271526.4	+	3	1279	c.1007C>T	c.(1006-1008)cCt>cTt	p.P336L	PRCC_ENST00000491853.1_3'UTR|PRCC_ENST00000353233.3_Missense_Mutation_p.P336L	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	336					mitotic cell cycle checkpoint (GO:0007093)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)			PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCTTGGATGCCTAAGCCTGGG	0.572			T	TFE3	papillary renal																																	uc001fqa.2		NA		Dom	yes		1	1q21.1	5546	T	papillary renal cell carcinoma (translocation-associated)			E	TFE3		papillary renal 	PRCC/TFE3(25)	0				kidney(25)|central_nervous_system(2)	27						c.(1006-1008)CCT>CTT		papillary renal cell carcinoma							159.0	168.0	165.0					1																	156756890		2203	4300	6503	SO:0001583	missense	5546				cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding	g.chr1:156756890C>T	X99720	CCDS1157.1	1q21.1	2008-02-05			ENSG00000143294	ENSG00000143294			9343	protein-coding gene	gene with protein product		179755				8872474	Standard	NM_005973		Approved	RCCP1	uc001fqa.3	Q92733	OTTHUMG00000041294	ENST00000271526.4:c.1007C>T	1.37:g.156756890C>T	ENSP00000271526:p.Pro336Leu					PRCC_uc001fqb.2_Missense_Mutation_p.P336L	p.P336L	NM_005973	NP_005964	Q92733	PRCC_HUMAN			3	1297	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		336					A8K1F7|O00665|O00724|Q5SZ06	Missense_Mutation	SNP	ENST00000271526.4	37	c.1007C>T	CCDS1157.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.621728	0.66787	.	.	ENSG00000143294	ENST00000271526;ENST00000353233;ENST00000368201;ENST00000526188	T;T	0.44881	1.03;0.91	5.77	4.8	0.61643	.	0.242590	0.35936	N	0.002898	T	0.14184	0.0343	N	0.14661	0.345	0.47476	D	0.999437	B;P	0.44816	0.421;0.844	B;B	0.39904	0.112;0.313	T	0.02444	-1.1158	10	0.26408	T	0.33	-1.7669	12.4387	0.55614	0.2832:0.7168:0.0:0.0	.	336;336	A6NG79;Q92733	.;PRCC_HUMAN	L	336;336;280;75	ENSP00000271526:P336L;ENSP00000339300:P336L	ENSP00000271526:P336L	P	+	2	0	PRCC	155023514	0.889000	0.30405	1.000000	0.80357	0.953000	0.61014	1.650000	0.37292	2.727000	0.93392	0.655000	0.94253	CCT		0.572	PRCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098941.2	NM_005973		89	181	0	0	0	0	89	181				
CD1D	912	broad.mit.edu	37	1	158152716	158152716	+	Missense_Mutation	SNP	G	G	A	rs199860570		TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:158152716G>A	ENST00000368171.3	+	5	1155	c.656G>A	c.(655-657)cGt>cAt	p.R219H		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	219	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GGCCCTGGCCGTCTGCTGCTG	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		17566	0.001		0.0	False		,,,				2504	0.0					uc001frr.2		NA																	0				ovary(1)	1						c.(655-657)CGT>CAT		CD1D antigen precursor							85.0	85.0	85.0					1																	158152716		2203	4300	6503	SO:0001583	missense	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158152716G>A	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1637	protein-coding gene	gene with protein product		188410	"""CD1D antigen, d polypeptide"", ""CD1d antigen"""			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.656G>A	1.37:g.158152716G>A	ENSP00000357153:p.Arg219His					CD1D_uc009wss.2_Intron	p.R219H	NM_001766	NP_001757	P15813	CD1D_HUMAN			5	1155	+	all_hematologic(112;0.0378)		219			Ig-like.|Extracellular (Potential).		D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Missense_Mutation	SNP	ENST00000368171.3	37	c.656G>A	CCDS1173.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.606585	0.28623	.	.	ENSG00000158473	ENST00000368171	T	0.13901	2.55	5.18	-0.738	0.11125	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (1);	0.528179	0.17322	N	0.178449	T	0.01592	0.0051	N	0.13043	0.29	0.26068	N	0.981252	B	0.21688	0.059	B	0.14578	0.011	T	0.46527	-0.9185	10	0.19147	T	0.46	-1.3462	4.2679	0.10771	0.4919:0.1772:0.3308:0.0	.	219	P15813	CD1D_HUMAN	H	219	ENSP00000357153:R219H	ENSP00000357153:R219H	R	+	2	0	CD1D	156419340	0.000000	0.05858	0.998000	0.56505	0.830000	0.47004	-1.412000	0.02476	0.204000	0.20548	-0.751000	0.03497	CGT		0.592	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766		12	95	0	0	0	0	12	95				
ARHGAP30	257106	broad.mit.edu	37	1	161018149	161018149	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:161018149C>A	ENST00000368013.3	-	12	2982	c.2662G>T	c.(2662-2664)Gta>Tta	p.V888L	USF1_ENST00000368021.3_5'Flank|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.V711L|USF1_ENST00000435396.1_5'Flank|ARHGAP30_ENST00000368016.3_Intron	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	888	Glu-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TGTGGGGCTACCTCTTCCATC	0.587																																						uc001fxl.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(2662-2664)GTA>TTA		Rho GTPase activating protein 30 isoform 1							52.0	48.0	50.0					1																	161018149		2203	4300	6503	SO:0001583	missense	257106				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr1:161018149C>A	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.2662G>T	1.37:g.161018149C>A	ENSP00000356992:p.Val888Leu					USF1_uc001fxi.2_5'Flank|USF1_uc001fxj.2_5'Flank|ARHGAP30_uc001fxk.2_Intron|ARHGAP30_uc001fxm.2_Missense_Mutation_p.V734L|ARHGAP30_uc009wtx.2_Missense_Mutation_p.V561L	p.V888L	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		12	3008	-	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		888			Glu-rich.		Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	ENST00000368013.3	37	c.2662G>T	CCDS30918.1	.	.	.	.	.	.	.	.	.	.	C	4.551	0.102371	0.08731	.	.	ENSG00000186517	ENST00000368013;ENST00000368015	T;T	0.32988	2.95;1.43	3.43	2.49	0.30216	.	0.771098	0.10996	N	0.611011	T	0.08179	0.0204	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.27571	-1.0070	10	0.52906	T	0.07	.	7.995	0.30263	0.0:0.8723:0.0:0.1276	.	888	Q7Z6I6	RHG30_HUMAN	L	888;711	ENSP00000356992:V888L;ENSP00000356994:V711L	ENSP00000356992:V888L	V	-	1	0	ARHGAP30	159284773	0.000000	0.05858	0.004000	0.12327	0.176000	0.22953	0.620000	0.24403	1.854000	0.53819	0.455000	0.32223	GTA		0.587	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		16	34	1	0	1.57e-10	1.79e-10	16	34				
POGK	57645	broad.mit.edu	37	1	166818317	166818317	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:166818317G>A	ENST00000367875.1	+	5	861	c.501G>A	c.(499-501)ggG>ggA	p.G167G	POGK_ENST00000537173.1_Silent_p.G49G|POGK_ENST00000367876.4_Silent_p.G167G|POGK_ENST00000536514.1_Silent_p.G82G			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	167					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						GGAGTGAGGGGTACCCCTTCT	0.577																																					GBM(76;192 1530 30153 48742)	uc001gdt.1		NA																	0				ovary(1)	1						c.(499-501)GGG>GGA		pogo transposable element with KRAB domain							104.0	93.0	96.0					1																	166818317		2203	4300	6503	SO:0001819	synonymous_variant	57645				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr1:166818317G>A	AB040946	CCDS1254.1	1q23.2	2013-01-08			ENSG00000143157	ENSG00000143157		"""-"""	18800	protein-coding gene	gene with protein product	"""KRAB box domain containing 2"""						Standard	NM_017542		Approved	KIAA15131, LST003, BASS2, KRBOX2	uc001gdt.1	Q9P215	OTTHUMG00000034325	ENST00000367875.1:c.501G>A	1.37:g.166818317G>A						POGK_uc010ple.1_Silent_p.G82G|POGK_uc010plf.1_Silent_p.G49G	p.G167G	NM_017542	NP_060012	Q9P215	POGK_HUMAN			5	621	+			167					Q5TIJ1|Q8TE07	Silent	SNP	ENST00000367875.1	37	c.501G>A	CCDS1254.1																																																																																				0.577	POGK-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082888.1	NM_017542		9	54	0	0	0	0	9	54				
F5	2153	broad.mit.edu	37	1	169511310	169511310	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:169511310A>C	ENST00000367797.3	-	13	3219	c.3018T>G	c.(3016-3018)caT>caG	p.H1006Q	F5_ENST00000367796.3_Missense_Mutation_p.H1011Q	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1006	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GTAGAGATTTATGTCTAACTC	0.463																																						uc001ggg.1		NA																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(3016-3018)CAT>CAG		coagulation factor V precursor	Drotrecogin alfa(DB00055)						150.0	161.0	158.0					1																	169511310		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169511310A>C	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3018T>G	1.37:g.169511310A>C	ENSP00000356771:p.His1006Gln						p.H1006Q	NM_000130	NP_000121	P12259	FA5_HUMAN			13	3163	-	all_hematologic(923;0.208)		1006			B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.3018T>G	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	A	10.99	1.507037	0.27036	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.19105	2.17;2.17	5.81	-3.28	0.05033	.	1.175700	0.06164	N	0.676471	T	0.03220	0.0094	L	0.37630	1.12	0.24514	N	0.994199	B	0.18863	0.031	B	0.15870	0.014	T	0.38802	-0.9644	9	0.12430	T	0.62	-2.2365	1.2318	0.01945	0.2797:0.2932:0.2849:0.1423	.	1006	P12259	FA5_HUMAN	Q	1006;1011	ENSP00000356771:H1006Q;ENSP00000356770:H1011Q	ENSP00000356770:H1011Q	H	-	3	2	F5	167777934	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.615000	0.05597	-0.118000	0.11851	-0.421000	0.06004	CAT		0.463	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		17	209	0	0	0	0	17	209				
FMO1	2326	broad.mit.edu	37	1	171249964	171249964	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:171249964C>T	ENST00000354841.4	+	5	798	c.667C>T	c.(667-669)Cga>Tga	p.R223*	FMO1_ENST00000402921.2_Nonsense_Mutation_p.R160*|FMO1_ENST00000367750.3_Nonsense_Mutation_p.R223*|FMO1_ENST00000469112.1_3'UTR	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	223			R -> Q (in dbSNP:rs16864310). {ECO:0000269|Ref.2}.		NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	GGTGATCAGCCGAATCTTTGA	0.517																																						uc009wvz.2		NA																	0				skin(1)	1						c.(667-669)CGA>TGA		flavin containing monooxygenase 1							102.0	88.0	93.0					1																	171249964		2203	4300	6503	SO:0001587	stop_gained	2326				NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171249964C>T	M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.667C>T	1.37:g.171249964C>T	ENSP00000346901:p.Arg223*					FMO1_uc010pme.1_Nonsense_Mutation_p.R160*|FMO1_uc001ghl.2_Nonsense_Mutation_p.R223*|FMO1_uc001ghm.2_Nonsense_Mutation_p.R223*|FMO1_uc001ghn.2_Nonsense_Mutation_p.R223*	p.R223*	NM_002021	NP_002012	Q01740	FMO1_HUMAN			6	803	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		223					A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Nonsense_Mutation	SNP	ENST00000354841.4	37	c.667C>T	CCDS1294.1	.	.	.	.	.	.	.	.	.	.	C	37	6.495033	0.97612	.	.	ENSG00000010932	ENST00000367750;ENST00000402921;ENST00000354841	.	.	.	5.85	2.88	0.33553	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.6678	14.5101	0.67780	0.3749:0.6251:0.0:0.0	.	.	.	.	X	223;160;223	.	ENSP00000346901:R223X	R	+	1	2	FMO1	169516588	0.993000	0.37304	0.952000	0.39060	0.967000	0.64934	2.919000	0.48836	0.330000	0.23485	-0.262000	0.10625	CGA		0.517	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021		3	48	0	0	0	0	3	48				
SLC26A9	115019	broad.mit.edu	37	1	205888028	205888028	+	Silent	SNP	G	G	A	rs367640041		TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:205888028G>A	ENST00000367135.3	-	19	2309	c.2196C>T	c.(2194-2196)gaC>gaT	p.D732D	SLC26A9_ENST00000340781.4_Silent_p.D732D|SLC26A9_ENST00000367134.2_Silent_p.D732D	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	732	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			AGAGGACTGCGTCATGTATGC	0.522											OREG0014164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001hdq.2		NA																	0				ovary(1)|skin(1)	2						c.(2194-2196)GAC>GAT		solute carrier family 26, member 9 isoform a		G	,	0,4406		0,0,2203	308.0	289.0	296.0		2196,2196	-5.4	0.2	1		296	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,coding-synonymous	SLC26A9	NM_052934.3,NM_134325.2	,	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	,	732/792,732/888	205888028	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	115019					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	g.chr1:205888028G>A	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"""Solute carriers"""	14469	protein-coding gene	gene with protein product	"""anion transporter/exchanger-9"""	608481	"""solute carrier family 26, member 9"""			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.2196C>T	1.37:g.205888028G>A			OREG0014164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2155	SLC26A9_uc001hdm.2_5'Flank|SLC26A9_uc001hdn.2_5'Flank|SLC26A9_uc001hdo.2_Silent_p.D400D|SLC26A9_uc001hdp.2_Silent_p.D732D	p.D732D	NM_052934	NP_443166	Q7LBE3	S26A9_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0458)		19	2310	-	Breast(84;0.201)		732			STAS.		A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Silent	SNP	ENST00000367135.3	37	c.2196C>T	CCDS30990.1																																																																																				0.522	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934		53	259	0	0	0	0	53	259				
SERTAD4	56256	broad.mit.edu	37	1	210415025	210415025	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:210415025G>C	ENST00000367012.3	+	4	644	c.414G>C	c.(412-414)agG>agC	p.R138S	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	138	SERTA. {ECO:0000255|PROSITE- ProRule:PRU00396}.					nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		TGATGAAAAGGATCCATGGAG	0.428																																						uc001hhy.2		NA																	0				ovary(1)|pancreas(1)	2						c.(412-414)AGG>AGC		SERTA domain containing 4							106.0	111.0	109.0					1																	210415025		2203	4300	6503	SO:0001583	missense	56256						protein binding	g.chr1:210415025G>C	BC012083	CCDS1494.1	1q32.1-q41	2008-02-05			ENSG00000082497	ENSG00000082497			25236	protein-coding gene	gene with protein product						12477932	Standard	NM_019605		Approved	DJ667H12.2	uc001hhy.3	Q9NUC0	OTTHUMG00000036391	ENST00000367012.3:c.414G>C	1.37:g.210415025G>C	ENSP00000355979:p.Arg138Ser					SERTAD4_uc009xcw.2_Missense_Mutation_p.R138S	p.R138S	NM_019605	NP_062551	Q9NUC0	SRTD4_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)	4	593	+			138			SERTA.		B2RD32	Missense_Mutation	SNP	ENST00000367012.3	37	c.414G>C	CCDS1494.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.611446	0.46631	.	.	ENSG00000082497	ENST00000367012	.	.	.	5.66	2.78	0.32641	.	0.054916	0.64402	D	0.000004	T	0.53802	0.1819	L	0.48642	1.525	0.36542	D	0.871352	P	0.35468	0.503	B	0.42214	0.38	T	0.62613	-0.6817	9	0.87932	D	0	-9.2033	9.6689	0.40000	0.2943:0.0:0.7057:0.0	.	138	Q9NUC0	SRTD4_HUMAN	S	138	.	ENSP00000355979:R138S	R	+	3	2	SERTAD4	208481648	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.569000	0.23638	0.745000	0.32763	-0.150000	0.13652	AGG		0.428	SERTAD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088577.1	NM_019605		24	149	0	0	0	0	24	149				
ANGEL2	90806	broad.mit.edu	37	1	213181634	213181634	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:213181634T>C	ENST00000366962.3	-	3	714	c.560A>G	c.(559-561)tAt>tGt	p.Y187C	ANGEL2_ENST00000544555.1_Missense_Mutation_p.Y18C|ANGEL2_ENST00000535388.1_Missense_Mutation_p.Y18C|ANGEL2_ENST00000360506.2_Missense_Mutation_p.Y18C|ANGEL2_ENST00000540642.1_Missense_Mutation_p.Y61C	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	187										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		GCAATGTCTATAAAGGTGAGA	0.353																																						uc001hjz.2		NA																	0					0						c.(559-561)TAT>TGT		LOC90806 protein							95.0	95.0	95.0					1																	213181634		2203	4300	6503	SO:0001583	missense	90806							g.chr1:213181634T>C	AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.560A>G	1.37:g.213181634T>C	ENSP00000355929:p.Tyr187Cys					ANGEL2_uc010pto.1_Missense_Mutation_p.Y61C|ANGEL2_uc010ptp.1_Missense_Mutation_p.Y61C|ANGEL2_uc001hka.2_Missense_Mutation_p.Y18C|ANGEL2_uc010ptq.1_RNA|ANGEL2_uc001hkb.2_Missense_Mutation_p.Y165C	p.Y187C	NM_144567	NP_653168	Q5VTE6	ANGE2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)	3	715	-			187					B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Missense_Mutation	SNP	ENST00000366962.3	37	c.560A>G	CCDS1512.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.188229	0.78789	.	.	ENSG00000174606	ENST00000366962;ENST00000360506;ENST00000544555;ENST00000540642;ENST00000535388;ENST00000310246	T;T;T;T;T	0.58060	1.31;0.36;0.36;0.96;0.55	5.76	4.64	0.57946	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	T	0.79299	0.4422	H	0.95043	3.615	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.83764	0.0216	10	0.87932	D	0	-17.5195	11.6532	0.51301	0.0:0.0689:0.0:0.9311	.	61;165;187	F5H476;Q96AL9;Q5VTE6	.;.;ANGE2_HUMAN	C	187;18;18;61;18;165	ENSP00000355929:Y187C;ENSP00000353696:Y18C;ENSP00000443193:Y18C;ENSP00000446124:Y61C;ENSP00000438141:Y18C	ENSP00000309755:Y165C	Y	-	2	0	ANGEL2	211248257	1.000000	0.71417	0.745000	0.31077	0.989000	0.77384	7.603000	0.82811	1.010000	0.39314	0.533000	0.62120	TAT		0.353	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089693.1	NM_144567		20	77	0	0	0	0	20	77				
SIPA1L2	57568	broad.mit.edu	37	1	232600688	232600688	+	Silent	SNP	T	T	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:232600688T>C	ENST00000366630.1	-	8	3076	c.2718A>G	c.(2716-2718)ggA>ggG	p.G906G	SIPA1L2_ENST00000308942.4_5'Flank|SIPA1L2_ENST00000262861.4_Silent_p.G906G			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	906					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TACTCACTAATCCAGATGTCC	0.428																																						uc001hvg.2		NA																	0				ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6						c.(2716-2718)GGA>GGG		signal-induced proliferation-associated 1 like							93.0	93.0	93.0					1																	232600688		1973	4162	6135	SO:0001819	synonymous_variant	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232600688T>C	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.2718A>G	1.37:g.232600688T>C						SIPA1L2_uc001hvf.2_5'Flank	p.G906G	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			7	2876	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	906					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	ENST00000366630.1	37	c.2718A>G	CCDS41474.1																																																																																				0.428	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		44	43	0	0	0	0	44	43				
AKT3	10000	broad.mit.edu	37	1	243809217	243809217	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr1:243809217G>C	ENST00000366539.1	-	5	607	c.407C>G	c.(406-408)tCt>tGt	p.S136C	AKT3_ENST00000336199.5_Missense_Mutation_p.S136C|AKT3_ENST00000366540.1_Missense_Mutation_p.S136C|AKT3_ENST00000263826.5_Missense_Mutation_p.S136C			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	136					mitochondrial genome maintenance (GO:0000002)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			ATGGGTTGTAGAGGCATCCAT	0.383																																						uc001iab.1		NA																	0				stomach(1)|lung(1)|breast(1)|central_nervous_system(1)	4						c.(406-408)TCT>TGT		AKT3 kinase isoform 1							191.0	187.0	189.0					1																	243809217		2203	4300	6503	SO:0001583	missense	10000				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:243809217G>C	AF124141	CCDS31076.1, CCDS31077.1	1q44	2013-07-09	2013-07-09		ENSG00000117020	ENSG00000117020	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	393	protein-coding gene	gene with protein product	"""protein kinase B, gamma"""	611223				10092583, 10208883	Standard	NM_005465		Approved	PKBG, RAC-gamma, PRKBG	uc001iab.2	Q9Y243	OTTHUMG00000039994	ENST00000366539.1:c.407C>G	1.37:g.243809217G>C	ENSP00000355497:p.Ser136Cys					AKT3_uc001hzz.1_Missense_Mutation_p.S136C	p.S136C	NM_005465	NP_005456	Q9Y243	AKT3_HUMAN	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)		4	488	-	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	136					Q0VAA6|Q5VTI1|Q5VTI2|Q96QV3|Q9UFP5	Missense_Mutation	SNP	ENST00000366539.1	37	c.407C>G	CCDS31077.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911570	0.52439	.	.	ENSG00000117020	ENST00000336199;ENST00000366540;ENST00000366539;ENST00000263826;ENST00000552631	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;2.06	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.29093	0.0723	N	0.08118	0	0.58432	D	0.999999	B;B	0.17038	0.003;0.02	B;B	0.20767	0.005;0.031	T	0.13150	-1.0520	10	0.72032	D	0.01	.	18.519	0.90944	0.0:0.0:1.0:0.0	.	136;136	Q9Y243;Q9Y243-2	AKT3_HUMAN;.	C	136	ENSP00000336943:S136C;ENSP00000355498:S136C;ENSP00000355497:S136C;ENSP00000263826:S136C;ENSP00000447820:S136C	ENSP00000263826:S136C	S	-	2	0	AKT3	241875840	1.000000	0.71417	0.996000	0.52242	0.973000	0.67179	8.062000	0.89475	2.361000	0.80049	0.591000	0.81541	TCT		0.383	AKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096479.1	NM_181690		8	61	0	0	0	0	8	61				
PLXDC2	84898	broad.mit.edu	37	10	20335831	20335831	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr10:20335831A>G	ENST00000377252.4	+	3	1199	c.358A>G	c.(358-360)Ata>Gta	p.I120V	PLXDC2_ENST00000377242.3_Intron|PLXDC2_ENST00000377238.2_3'UTR	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	120					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TATATCTCGAATATATGGTCC	0.328																																						uc001iqg.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(358-360)ATA>GTA		plexin domain containing 2 precursor							107.0	115.0	112.0					10																	20335831		2203	4300	6503	SO:0001583	missense	84898					integral to membrane		g.chr10:20335831A>G	AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"""tumor endothelial marker 7-related precursor"""	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.358A>G	10.37:g.20335831A>G	ENSP00000366460:p.Ile120Val					PLXDC2_uc001iqh.1_Intron	p.I120V	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN			3	995	+			120			Extracellular (Potential).		Q96E59|Q96PD9|Q96SU9	Missense_Mutation	SNP	ENST00000377252.4	37	c.358A>G	CCDS7132.1	.	.	.	.	.	.	.	.	.	.	A	13.90	2.373616	0.42105	.	.	ENSG00000120594	ENST00000377252;ENST00000536022	T	0.22539	1.95	5.29	5.29	0.74685	.	0.089368	0.85682	D	0.000000	T	0.13243	0.0321	N	0.12961	0.28	0.80722	D	1	B	0.20780	0.048	B	0.19148	0.024	T	0.11817	-1.0572	10	0.16896	T	0.51	.	15.2152	0.73261	1.0:0.0:0.0:0.0	.	120	Q6UX71	PXDC2_HUMAN	V	120;106	ENSP00000366460:I120V	ENSP00000366460:I120V	I	+	1	0	PLXDC2	20375837	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	8.957000	0.93082	1.989000	0.58080	0.528000	0.53228	ATA		0.328	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	NM_032812		11	88	0	0	0	0	11	88				
GPR158	57512	broad.mit.edu	37	10	25861578	25861578	+	Splice_Site	SNP	G	G	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr10:25861578G>T	ENST00000376351.3	+	7	1874	c.1515G>T	c.(1513-1515)agG>agT	p.R505S		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	505					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GCTTTTCTAGGGTTTTGAAGG	0.368																																						uc001isj.2		NA																	0				ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(1513-1515)AGG>AGT		G protein-coupled receptor 158 precursor							205.0	187.0	193.0					10																	25861578		2203	4300	6503	SO:0001630	splice_region_variant	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25861578G>T	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1515-1G>T	10.37:g.25861578G>T							p.R505S	NM_020752	NP_065803	Q5T848	GP158_HUMAN			7	1575	+			505			Helical; Name=3; (Potential).		Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.1515G>T	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225068	0.79576	.	.	ENSG00000151025	ENST00000376351	D	0.90261	-2.64	5.78	3.8	0.43715	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95214	0.8448	M	0.89785	3.06	0.80722	D	1	D	0.65815	0.995	D	0.67382	0.951	D	0.95198	0.8314	9	.	.	.	.	10.7198	0.46034	0.1655:0.0:0.8345:0.0	.	505	Q5T848	GP158_HUMAN	S	505	ENSP00000365529:R505S	.	R	+	3	2	GPR158	25901584	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.476000	0.53143	1.304000	0.44892	0.557000	0.71058	AGG		0.368	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110	Missense_Mutation	12	67	1	0	1.58e-08	1.78e-08	12	67				
NPY4R	5540	broad.mit.edu	37	10	47087866	47087866	+	Silent	SNP	C	C	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr10:47087866C>A	ENST00000395716.1	+	2	1168	c.1083C>A	c.(1081-1083)gtC>gtA	p.V361V	NPY4R_ENST00000374312.1_Silent_p.V361V			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	361					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										ATACGGAAGTCTCCAAAGGGT	0.567																																						uc001jee.2		NA																	0				ovary(1)|skin(1)	2						c.(1081-1083)GTC>GTA		pancreatic polypeptide receptor 1							109.0	107.0	108.0					10																	47087866		2203	4300	6503	SO:0001819	synonymous_variant	5540				blood circulation|digestion|feeding behavior	integral to plasma membrane		g.chr10:47087866C>A		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.1083C>A	10.37:g.47087866C>A						ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Silent_p.V361V	p.V361V	NM_005972	NP_005963	P50391	NPY4R_HUMAN			3	1502	+			361			Cytoplasmic (Potential).		Q13456|Q5ISU3|Q5T2X9|Q6FH06	Silent	SNP	ENST00000395716.1	37	c.1083C>A	CCDS31193.1																																																																																				0.567	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			21	108	1	0	0.00465635	0.00487513	21	108				
GDF10	2662	broad.mit.edu	37	10	48428782	48428782	+	Silent	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr10:48428782C>T	ENST00000224605.2	-	2	1369	c.1104G>A	c.(1102-1104)aaG>aaA	p.K368K		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	368					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CATCCCACTGCTTCCTCCGGG	0.572																																						uc001jfb.2		NA																	0				lung(1)|central_nervous_system(1)	2						c.(1102-1104)AAG>AAA		growth differentiation factor 10 precursor							101.0	86.0	91.0					10																	48428782		2203	4300	6503	SO:0001819	synonymous_variant	2662				growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr10:48428782C>T	L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"""Endogenous ligands"""	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.1104G>A	10.37:g.48428782C>T						GDF10_uc009xnp.2_Silent_p.K367K|GDF10_uc009xnq.1_Silent_p.K368K	p.K368K	NM_004962	NP_004953	P55107	BMP3B_HUMAN			2	1560	-			368					Q5VSQ8|Q9UCX6	Silent	SNP	ENST00000224605.2	37	c.1104G>A	CCDS7220.1																																																																																				0.572	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	NM_004962		26	39	0	0	0	0	26	39				
NRAP	4892	broad.mit.edu	37	10	115365978	115365978	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr10:115365978C>T	ENST00000359988.3	-	33	4010	c.3766G>A	c.(3766-3768)Gag>Aag	p.E1256K	NRAP_ENST00000369360.3_Missense_Mutation_p.E1229K|NRAP_ENST00000369358.4_Missense_Mutation_p.E1264K|NRAP_ENST00000360478.3_Missense_Mutation_p.E1221K	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CGGATGAACTCGGGCAGACCC	0.438																																						uc001laj.2		NA																	0				ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10						c.(3766-3768)GAG>AAG		nebulin-related anchoring protein isoform S							166.0	159.0	161.0					10																	115365978		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115365978C>T		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.3766G>A	10.37:g.115365978C>T	ENSP00000353078:p.Glu1256Lys					NRAP_uc009xyb.2_Intron|NRAP_uc001lak.2_Missense_Mutation_p.E1221K|NRAP_uc001lal.3_Missense_Mutation_p.E1256K	p.E1256K	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	33	3930	-		Colorectal(252;0.0233)|Breast(234;0.188)	1256			Nebulin 33.			Missense_Mutation	SNP	ENST00000359988.3	37	c.3766G>A	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.023137	0.93462	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.76407	0.3983	M	0.85945	2.785	0.51482	D	0.999929	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.78783	-0.2069	10	0.56958	D	0.05	.	17.896	0.88888	0.0:1.0:0.0:0.0	.	1256;1221;1256	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	K	1264;1229;1256;1221	ENSP00000358365:E1264K;ENSP00000358367:E1229K;ENSP00000353078:E1256K;ENSP00000353666:E1221K	ENSP00000353078:E1256K	E	-	1	0	NRAP	115355968	1.000000	0.71417	0.949000	0.38748	0.721000	0.41392	6.862000	0.75484	2.664000	0.90586	0.655000	0.94253	GAG		0.438	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		20	29	0	0	0	0	20	29				
MRGPRX3	117195	broad.mit.edu	37	11	18158851	18158851	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr11:18158851G>A	ENST00000396275.2	+	3	463	c.102G>A	c.(100-102)acG>acA	p.T34T		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CGGGGCTGACGTGCATCGTTT	0.572																																						uc001mnu.2		NA																	0				ovary(1)|pancreas(1)	2						c.(100-102)ACG>ACA		MAS-related GPR, member X3							160.0	154.0	156.0					11																	18158851		2200	4293	6493	SO:0001819	synonymous_variant	117195					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18158851G>A		CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"""GPCR / Class A : Orphans"""	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.102G>A	11.37:g.18158851G>A							p.T34T	NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN			3	463	+			34			Helical; Name=1; (Potential).		B0M0L1|Q8TDE0|Q8TDE1	Silent	SNP	ENST00000396275.2	37	c.102G>A	CCDS7830.1																																																																																				0.572	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		16	103	0	0	0	0	16	103				
GAS2	2620	broad.mit.edu	37	11	22696395	22696395	+	Splice_Site	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr11:22696395G>A	ENST00000454584.2	+	2	285		c.e2-1		GAS2_ENST00000433790.1_5'UTR|GAS2_ENST00000533092.1_Splice_Site|GAS2_ENST00000278187.3_Splice_Site	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2						apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|regulation of cell shape (GO:0008360)	actin filament (GO:0005884)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						TTCCAAAACAGGTATTACAAG	0.418																																						uc009yie.2		NA																	0				ovary(1)|skin(1)	2						c.e2-1		growth arrest-specific 2							67.0	68.0	68.0					11																	22696395		2203	4300	6503	SO:0001630	splice_region_variant	2620				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane		g.chr11:22696395G>A	BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935			4167	protein-coding gene	gene with protein product		602835				9521882	Standard	NM_005256		Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.-20-1G>A	11.37:g.22696395G>A						GAS2_uc001mqm.2_Splice_Site|GAS2_uc001mqn.2_Splice_Site|GAS2_uc001mqo.2_5'UTR		NM_001143830	NP_001137302	O43903	GAS2_HUMAN			2	287	+								B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Splice_Site	SNP	ENST00000454584.2	37	c.-19_splice	CCDS7858.1																																																																																				0.418	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387717.1	NM_177553	Intron	8	20	0	0	0	0	8	20				
MRPL16	54948	broad.mit.edu	37	11	59575303	59575303	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr11:59575303T>G	ENST00000300151.4	-	3	354	c.141A>C	c.(139-141)aaA>aaC	p.K47N		NM_017840.3	NP_060310.1	Q9NX20	RM16_HUMAN	mitochondrial ribosomal protein L16	47					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						TAAGCTTGGGTTTTTCAGGAA	0.368																																						uc001noh.2		NA																	0				central_nervous_system(1)	1						c.(139-141)AAA>AAC		mitochondrial ribosomal protein L16 precursor							139.0	150.0	146.0					11																	59575303		2201	4295	6496	SO:0001583	missense	54948						rRNA binding	g.chr11:59575303T>G	AF183428	CCDS7976.1	11q12.1	2012-09-13			ENSG00000166902	ENSG00000166902		"""Mitochondrial ribosomal proteins / large subunits"""	14476	protein-coding gene	gene with protein product		611829					Standard	NM_017840		Approved	FLJ20484, PNAS-111	uc001noh.2	Q9NX20	OTTHUMG00000167410	ENST00000300151.4:c.141A>C	11.37:g.59575303T>G	ENSP00000300151:p.Lys47Asn						p.K47N	NM_017840	NP_060310	Q9NX20	RM16_HUMAN			3	355	-			47					Q9BYD0|Q9HB70	Missense_Mutation	SNP	ENST00000300151.4	37	c.141A>C	CCDS7976.1	.	.	.	.	.	.	.	.	.	.	T	15.16	2.751094	0.49257	.	.	ENSG00000166902	ENST00000300151	T	0.23950	1.88	6.07	-0.179	0.13299	.	0.332798	0.38605	N	0.001640	T	0.23572	0.0570	L	0.55481	1.735	0.34809	D	0.737552	P	0.42785	0.79	B	0.43623	0.425	T	0.26744	-1.0094	10	0.34782	T	0.22	-8.272	8.6334	0.33933	0.0:0.4992:0.0:0.5008	.	47	Q9NX20	RM16_HUMAN	N	47	ENSP00000300151:K47N	ENSP00000300151:K47N	K	-	3	2	MRPL16	59331879	0.116000	0.22171	0.422000	0.26621	0.972000	0.66771	0.174000	0.16743	-0.059000	0.13154	-0.248000	0.11899	AAA		0.368	MRPL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394521.1	NM_017840		11	160	0	0	0	0	11	160				
MS4A15	219995	broad.mit.edu	37	11	60543106	60543106	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr11:60543106G>A	ENST00000405633.3	+	7	720	c.641G>A	c.(640-642)aGc>aAc	p.S214N	MS4A15_ENST00000337911.4_Missense_Mutation_p.S121N|MS4A15_ENST00000528170.1_Missense_Mutation_p.S173N	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	214						integral component of membrane (GO:0016021)				breast(1)|large_intestine(2)|lung(3)	6						AACGCCTTCAGCGCAGACTTC	0.577											OREG0020991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc009ynf.1		NA																	0				lung(1)	1						c.(640-642)AGC>AAC		membrane-spanning 4-domains, subfamily A, member							144.0	147.0	146.0					11																	60543106		2203	4300	6503	SO:0001583	missense	219995					integral to membrane	receptor activity	g.chr11:60543106G>A	AY584608	CCDS7991.1, CCDS44617.1, CCDS60802.1	11q12.2	2008-03-25							28573	protein-coding gene	gene with protein product							Standard	NM_001098835		Approved		uc009ynf.1	Q8N5U1		ENST00000405633.3:c.641G>A	11.37:g.60543106G>A	ENSP00000386022:p.Ser214Asn		OREG0020991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1046	MS4A15_uc001npx.2_Missense_Mutation_p.S121N|MS4A15_uc001npy.2_RNA|MS4A15_uc009yng.1_Missense_Mutation_p.S173N	p.S214N	NM_001098835	NP_001092305	Q8N5U1	M4A15_HUMAN			7	861	+			214					A9UJY6|A9UJY7|F2Z2J5	Missense_Mutation	SNP	ENST00000405633.3	37	c.641G>A	CCDS44617.1	.	.	.	.	.	.	.	.	.	.	G	7.611	0.674789	0.14841	.	.	ENSG00000166961	ENST00000528170;ENST00000337911;ENST00000405633	T;T;T	0.14766	2.48;2.52;2.94	5.25	4.34	0.51931	.	0.648678	0.16274	N	0.221645	T	0.12475	0.0303	L	0.57536	1.79	0.20703	N	0.999865	B;B	0.31383	0.321;0.115	B;B	0.23275	0.045;0.045	T	0.21008	-1.0258	10	0.17369	T	0.5	-20.6529	9.7942	0.40724	0.0954:0.0:0.9046:0.0	.	173;214	F2Z2J5;Q8N5U1	.;M4A15_HUMAN	N	173;121;214	ENSP00000434165:S173N;ENSP00000338692:S121N;ENSP00000386022:S214N	ENSP00000338692:S121N	S	+	2	0	MS4A15	60299682	0.972000	0.33761	0.996000	0.52242	0.260000	0.26232	2.068000	0.41471	1.206000	0.43276	-0.148000	0.13756	AGC		0.577	MS4A15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395618.1			45	156	0	0	0	0	45	156				
AHNAK	79026	broad.mit.edu	37	11	62298958	62298958	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr11:62298958G>A	ENST00000378024.4	-	5	3205	c.2931C>T	c.(2929-2931)ggC>ggT	p.G977G	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	977					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)				CTACTTTTGGGCCTTTCAGGT	0.463																																						uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(2929-2931)GGC>GGT		AHNAK nucleoprotein isoform 1							125.0	134.0	131.0					11																	62298958		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62298958G>A	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.2931C>T	11.37:g.62298958G>A						AHNAK_uc001ntk.1_Intron	p.G977G	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	3231	-		Melanoma(852;0.155)	977					A1A586	Silent	SNP	ENST00000378024.4	37	c.2931C>T	CCDS31584.1																																																																																				0.463	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		24	104	0	0	0	0	24	104				
SLC22A12	116085	broad.mit.edu	37	11	64361159	64361159	+	Silent	SNP	T	T	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr11:64361159T>C	ENST00000377574.1	+	4	1461	c.714T>C	c.(712-714)tcT>tcC	p.S238S	SLC22A12_ENST00000377572.1_Intron|SLC22A12_ENST00000473690.1_Silent_p.S17S|SLC22A12_ENST00000336464.7_Silent_p.S204S|SLC22A12_ENST00000377567.2_Intron	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	238					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	CCTTGAACTCTCTGGGCTTCA	0.642																																						uc001oam.1		NA																	0				ovary(1)	1						c.(712-714)TCT>TCC		urate anion exchanger 1 isoform a							130.0	119.0	123.0					11																	64361159		2201	4297	6498	SO:0001819	synonymous_variant	116085				cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity	g.chr11:64361159T>C	AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"""Solute carriers"""	17989	protein-coding gene	gene with protein product		607096	"""solute carrier family 22 (organic anion/cation transporter), member 12"""			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.714T>C	11.37:g.64361159T>C						SLC22A12_uc009ypr.1_Silent_p.S263S|SLC22A12_uc001oal.1_Silent_p.S17S|SLC22A12_uc009yps.1_Silent_p.S204S|SLC22A12_uc001oan.1_Intron|SLC22A12_uc009ypt.2_Silent_p.S56S	p.S238S	NM_144585	NP_653186	Q96S37	S22AC_HUMAN			4	1461	+			238			Helical; (Potential).		B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Silent	SNP	ENST00000377574.1	37	c.714T>C	CCDS8075.1																																																																																				0.642	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104966.2	NM_144585		10	29	0	0	0	0	10	29				
ALKBH8	91801	broad.mit.edu	37	11	107427562	107427562	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr11:107427562G>A	ENST00000428149.2	-	3	448	c.297C>T	c.(295-297)acC>acT	p.T99T	ALKBH8_ENST00000417449.2_Silent_p.T102T|ALKBH8_ENST00000530933.1_5'UTR|ALKBH8_ENST00000389568.3_Silent_p.T99T|ALKBH8_ENST00000429370.1_Silent_p.T99T	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	99	RRM.				cellular response to DNA damage stimulus (GO:0006974)|tRNA methylation (GO:0030488)	cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|RNA binding (GO:0003723)|tRNA (uracil) methyltransferase activity (GO:0016300)			breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		TTCCATTGAGGGTAACATAGG	0.348																																						uc010rvr.1		NA																	0					0						c.(295-297)ACC>ACT		alkB, alkylation repair homolog 8							119.0	109.0	112.0					11																	107427562		2201	4298	6499	SO:0001819	synonymous_variant	91801				response to DNA damage stimulus	cytosol|nucleus	metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity	g.chr11:107427562G>A	AF086489	CCDS8337.2, CCDS73376.1	11q22.3	2013-10-04			ENSG00000137760	ENSG00000137760	2.1.1.229	"""Alkylation repair homologs"", ""RNA binding motif (RRM) containing"""	25189	protein-coding gene	gene with protein product		613306				20123966	Standard	NM_138775		Approved	MGC10235	uc009yxp.3	Q96BT7	OTTHUMG00000157008	ENST00000428149.2:c.297C>T	11.37:g.107427562G>A						ALKBH8_uc010rvq.1_5'UTR|ALKBH8_uc009yxp.2_Silent_p.T99T|ALKBH8_uc001pjl.2_RNA	p.T99T	NM_138775	NP_620130	Q96BT7	ALKB8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)	3	372	-		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)	99			RRM.		B1Q2M0|B4DEF6|Q8N989	Silent	SNP	ENST00000428149.2	37	c.297C>T	CCDS8337.2																																																																																				0.348	ALKBH8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347071.2	NM_138775		5	33	0	0	0	0	5	33				
ARHGEF12	23365	broad.mit.edu	37	11	120346103	120346103	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr11:120346103A>T	ENST00000397843.2	+	33	3330	c.3164A>T	c.(3163-3165)gAt>gTt	p.D1055V	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.D952V|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.D1036V	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1055	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		AAGCAGGATGATAGACTGGTT	0.373			T	MLL	AML																																	uc001pxl.1		NA		Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				lung(2)|breast(2)|skin(2)|ovary(1)	7						c.(3163-3165)GAT>GTT		Rho guanine nucleotide exchange factor (GEF) 12							191.0	175.0	180.0					11																	120346103		1934	4134	6068	SO:0001583	missense	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120346103A>T	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.3164A>T	11.37:g.120346103A>T	ENSP00000380942:p.Asp1055Val					ARHGEF12_uc009zat.2_Missense_Mutation_p.D1036V|ARHGEF12_uc010rzn.1_Missense_Mutation_p.D952V|ARHGEF12_uc009zau.1_Missense_Mutation_p.D952V	p.D1055V	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	33	3171	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	1055			PH.		O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	c.3164A>T	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.680942	0.88542	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.66995	-0.24;-0.24;-0.24	5.16	5.16	0.70880	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.50627	D	0.000107	T	0.80884	0.4709	M	0.73598	2.24	0.80722	D	1	D;D;D	0.71674	0.98;0.998;0.997	D;D;D	0.70487	0.925;0.969;0.932	D	0.83676	0.0169	10	0.87932	D	0	-16.085	15.2904	0.73862	1.0:0.0:0.0:0.0	.	952;1036;1055	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	V	1055;1036;952	ENSP00000380942:D1055V;ENSP00000349056:D1036V;ENSP00000432984:D952V	ENSP00000349056:D1036V	D	+	2	0	ARHGEF12	119851313	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.133000	0.94460	2.054000	0.61138	0.533000	0.62120	GAT		0.373	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		8	69	0	0	0	0	8	69				
ROBO3	64221	broad.mit.edu	37	11	124744033	124744033	+	Missense_Mutation	SNP	G	G	A	rs74787566	byFrequency	TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr11:124744033G>A	ENST00000397801.1	+	12	2044	c.1852G>A	c.(1852-1854)Ggt>Agt	p.G618S	ROBO3_ENST00000538940.1_Missense_Mutation_p.G596S	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	618	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CACAGTCAGCGGTCTGCAGCC	0.587													G|||	24	0.00479233	0.0	0.0014	5008	,	,		18513	0.0208		0.0	False		,,,				2504	0.002					uc001qbc.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(1852-1854)GGT>AGT		roundabout, axon guidance receptor, homolog 3		G	SER/GLY	4,4272		0,4,2134	138.0	141.0	140.0		1852	5.3	0.9	11	dbSNP_133	140	0,8512		0,0,4256	yes	missense	ROBO3	NM_022370.3	56	0,4,6390	AA,AG,GG		0.0,0.0935,0.0313	probably-damaging	618/1387	124744033	4,12784	2138	4256	6394	SO:0001583	missense	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124744033G>A	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.1852G>A	11.37:g.124744033G>A	ENSP00000380903:p.Gly618Ser					ROBO3_uc010saq.1_5'Flank|ROBO3_uc001qbd.2_5'Flank|ROBO3_uc010sar.1_5'Flank|ROBO3_uc001qbe.2_5'Flank	p.G618S	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	12	2044	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	618			Fibronectin type-III 1.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000397801.1	37	c.1852G>A	CCDS44755.1	17	0.007783882783882784	0	0.0	0	0.0	17	0.02972027972027972	0	0.0	G	35	5.451526	0.96205	9.35E-4	0.0	ENSG00000154134	ENST00000397801;ENST00000538940	D;D	0.84873	-1.91;-1.91	5.33	5.33	0.75918	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.38959	N	0.001503	D	0.84750	0.5541	M	0.85099	2.735	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	D	0.88063	0.2795	10	0.59425	D	0.04	.	17.9431	0.89031	0.0:0.0:1.0:0.0	.	618	Q96MS0	ROBO3_HUMAN	S	618;596	ENSP00000380903:G618S;ENSP00000441797:G596S	ENSP00000380903:G618S	G	+	1	0	ROBO3	124249243	1.000000	0.71417	0.866000	0.34008	0.991000	0.79684	7.700000	0.84556	2.775000	0.95449	0.655000	0.94253	GGT		0.587	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		6	73	0	0	0	0	6	73				
B4GALNT3	283358	broad.mit.edu	37	12	653525	653525	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr12:653525G>A	ENST00000266383.5	+	4	385	c.372G>A	c.(370-372)ctG>ctA	p.L124L	B4GALNT3_ENST00000544638.1_3'UTR	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	124					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GTGCCAACCTGCATGTGTTTG	0.632																																						uc001qii.1		NA																	0				ovary(1)|skin(1)	2						c.(370-372)CTG>CTA		beta							121.0	104.0	110.0					12																	653525		2203	4300	6503	SO:0001819	synonymous_variant	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:653525G>A	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.372G>A	12.37:g.653525G>A						B4GALNT3_uc001qij.1_Silent_p.L26L	p.L124L	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		4	372	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		124			Lumenal (Potential).		Q6ZNC1|Q8N7T6	Silent	SNP	ENST00000266383.5	37	c.372G>A	CCDS8504.1																																																																																				0.632	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		9	75	0	0	0	0	9	75				
AQP2	359	broad.mit.edu	37	12	50344816	50344816	+	Missense_Mutation	SNP	A	A	C	rs104894331		TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr12:50344816A>C	ENST00000199280.3	+	1	288	c.203A>C	c.(202-204)aAc>aCc	p.N68T	RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.6_ENST00000552379.1_RNA	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	68			N -> S (in ANDI). {ECO:0000269|PubMed:9048343}.		actin filament depolymerization (GO:0030042)|aging (GO:0007568)|apoptotic process (GO:0006915)|cell volume homeostasis (GO:0006884)|cellular response to copper ion (GO:0071280)|cellular response to mercury ion (GO:0071288)|cellular response to water deprivation (GO:0042631)|excretion (GO:0007588)|female pregnancy (GO:0007565)|glycerol transport (GO:0015793)|hyperosmotic response (GO:0006972)|metanephric collecting duct development (GO:0072205)|positive regulation of calcium ion transport (GO:0051928)|renal water transport (GO:0003097)|response to calcium ion (GO:0051592)|response to glucagon (GO:0033762)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to salt stress (GO:0009651)|response to starvation (GO:0042594)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	glycerol transmembrane transporter activity (GO:0015168)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)	p.N68T(2)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						GCCCACATCAACCCTGCCGTG	0.662																																						uc001rvn.2		NA																	2	Substitution - Missense(2)		cervix(1)|lung(1)	ovary(2)	2	GRCh37	CM970098	AQP2	M	rs104894331	c.(202-204)AAC>ACC		aquaporin 2							41.0	41.0	41.0					12																	50344816		2203	4300	6503	SO:0001583	missense	359				cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity	g.chr12:50344816A>C		CCDS8792.1	12q12-q13	2014-09-17				ENSG00000167580		"""Ion channels / Aquaporins"""	634	protein-coding gene	gene with protein product		107777				7512890	Standard	NM_000486		Approved		uc001rvn.3	P41181		ENST00000199280.3:c.203A>C	12.37:g.50344816A>C	ENSP00000199280:p.Asn68Thr						p.N68T	NM_000486	NP_000477	P41181	AQP2_HUMAN			1	293	+			68		N -> S (in ANDI).	Cytoplasmic (Potential).|NPA 1.		Q9UD68	Missense_Mutation	SNP	ENST00000199280.3	37	c.203A>C	CCDS8792.1	.	.	.	.	.	.	.	.	.	.	A	17.54	3.414384	0.62511	.	.	ENSG00000167580	ENST00000199280;ENST00000550862	D;T	0.98792	-5.14;-0.93	4.62	4.62	0.57501	Major intrinsic protein, conserved site (1);Aquaporin-like (2);	0.000000	0.64402	D	0.000013	D	0.99569	0.9845	H	0.99911	4.935	0.58432	D	0.999993	D	0.89917	1.0	D	0.71870	0.975	D	0.97411	1.0002	10	0.87932	D	0	-19.7917	12.3053	0.54898	1.0:0.0:0.0:0.0	.	68	P41181	AQP2_HUMAN	T	68	ENSP00000199280:N68T;ENSP00000450022:N68T	ENSP00000199280:N68T	N	+	2	0	AQP2	48631083	1.000000	0.71417	0.995000	0.50966	0.381000	0.30169	7.516000	0.81772	1.859000	0.53934	0.533000	0.62120	AAC		0.662	AQP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405540.1	NM_000486		9	35	0	0	0	0	9	35				
ZBTB39	9880	broad.mit.edu	37	12	57396829	57396829	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr12:57396829G>A	ENST00000300101.2	-	2	1958	c.1873C>T	c.(1873-1875)Cgg>Tgg	p.R625W		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	625					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						GTGTGGATCCGCCGGTGGTAG	0.557																																						uc001sml.1		NA																	0				breast(1)	1						c.(1873-1875)CGG>TGG		zinc finger and BTB domain containing 39							78.0	69.0	72.0					12																	57396829		2203	4300	6503	SO:0001583	missense	9880				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:57396829G>A	AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.1873C>T	12.37:g.57396829G>A	ENSP00000300101:p.Arg625Trp					RDH16_uc010sqx.1_5'Flank	p.R625W	NM_014830	NP_055645	O15060	ZBT39_HUMAN			2	1959	-			625			C2H2-type 6.		A7MD38|Q9UD98	Missense_Mutation	SNP	ENST00000300101.2	37	c.1873C>T	CCDS31839.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550832	0.65311	.	.	ENSG00000166860	ENST00000300101	T	0.25579	1.79	5.7	4.79	0.61399	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.62756	0.2454	H	0.95260	3.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74799	-0.3542	10	0.87932	D	0	-15.2935	13.5878	0.61942	0.0:0.0:0.8435:0.1564	.	625	O15060	ZBT39_HUMAN	W	625	ENSP00000300101:R625W	ENSP00000300101:R625W	R	-	1	2	ZBTB39	55683096	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.927000	0.56499	1.354000	0.45846	0.655000	0.94253	CGG		0.557	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	NM_014830		9	70	0	0	0	0	9	70				
TMEM132D	121256	broad.mit.edu	37	12	129569218	129569218	+	Silent	SNP	G	G	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr12:129569218G>T	ENST00000422113.2	-	6	1799	c.1473C>A	c.(1471-1473)gtC>gtA	p.V491V	TMEM132D_ENST00000389441.4_Silent_p.V29V	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	491					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CTTTCCCATTGACAAAGACGT	0.542																																						uc009zyl.1		NA																	0				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(1471-1473)GTC>GTA		transmembrane protein 132D precursor							109.0	86.0	94.0					12																	129569218		2203	4300	6503	SO:0001819	synonymous_variant	121256					integral to membrane		g.chr12:129569218G>T	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1473C>A	12.37:g.129569218G>T						TMEM132D_uc001uia.2_Silent_p.V29V	p.V491V	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	6	1801	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	491			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	c.1473C>A	CCDS9266.1																																																																																				0.542	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		7	28	1	0	2.01e-06	2.22e-06	7	28				
ANKLE2	23141	broad.mit.edu	37	12	133319798	133319798	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr12:133319798G>A	ENST00000357997.5	-	6	1384	c.1295C>T	c.(1294-1296)tCg>tTg	p.S432L	ANKLE2_ENST00000337516.5_Missense_Mutation_p.S432L|ANKLE2_ENST00000539605.1_Missense_Mutation_p.S370L	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	432					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)	p.S432L(1)		NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		ATGGTGTGACGAAAGCACGTT	0.353																																						uc001ukx.2		NA																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(1294-1296)TCG>TTG		ankyrin repeat and LEM domain containing 2							127.0	114.0	118.0					12																	133319798		1884	4104	5988	SO:0001583	missense	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133319798G>A	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.1295C>T	12.37:g.133319798G>A	ENSP00000350686:p.Ser432Leu					ANKLE2_uc001uky.3_Missense_Mutation_p.S370L	p.S432L	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	6	1362	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	432			ANK.		A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	ENST00000357997.5	37	c.1295C>T	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	g	12.97	2.097258	0.37048	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516;ENST00000545623	T;T;T;T	0.54479	1.64;1.64;0.57;0.57	4.71	4.71	0.59529	Ankyrin repeat-containing domain (2);	0.218384	0.47093	D	0.000249	T	0.20941	0.0504	N	0.00041	-2.485	0.31442	N	0.671815	D;D	0.64830	0.993;0.994	P;P	0.51550	0.457;0.673	T	0.42816	-0.9429	10	0.27082	T	0.32	-12.0326	13.4826	0.61345	0.0:0.1571:0.8429:0.0	.	432;432	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	L	370;432;432;202	ENSP00000446268:S370L;ENSP00000350686:S432L;ENSP00000337651:S432L;ENSP00000438515:S202L	ENSP00000337651:S432L	S	-	2	0	ANKLE2	131829871	1.000000	0.71417	0.998000	0.56505	0.035000	0.12851	6.674000	0.74487	2.161000	0.67846	0.639000	0.83563	TCG		0.353	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			6	25	0	0	0	0	6	25				
OR4N2	390429	broad.mit.edu	37	14	20295720	20295720	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr14:20295720T>C	ENST00000315947.1	+	1	113	c.113T>C	c.(112-114)aTc>aCc	p.I38T	OR4N2_ENST00000568211.1_Missense_Mutation_p.I38T	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	38						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TACTTCATCATCCTCCCTGGA	0.438																																						uc010tkv.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(112-114)ATC>ACC		olfactory receptor, family 4, subfamily N,							190.0	217.0	208.0					14																	20295720		2203	4300	6503	SO:0001583	missense	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20295720T>C		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.113T>C	14.37:g.20295720T>C	ENSP00000319601:p.Ile38Thr						p.I38T	NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	113	+	all_cancers(95;0.00108)		38			Helical; Name=1; (Potential).		Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	c.113T>C	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	0.012	-1.667650	0.00765	.	.	ENSG00000176294	ENST00000557677;ENST00000315947	T;T	0.00603	6.28;6.28	4.3	4.3	0.51218	.	0.133715	0.34411	N	0.003996	T	0.00178	0.0005	N	0.00175	-1.925	0.28934	N	0.891379	B	0.23058	0.079	B	0.22880	0.042	T	0.34477	-0.9827	10	0.02654	T	1	-20.2351	6.5645	0.22505	0.0:0.1081:0.0:0.8919	.	38	Q8NGD1	OR4N2_HUMAN	T	38	ENSP00000452022:I38T;ENSP00000319601:I38T	ENSP00000319601:I38T	I	+	2	0	OR4N2	19365560	0.000000	0.05858	1.000000	0.80357	0.548000	0.35241	0.219000	0.17641	1.922000	0.55676	0.482000	0.46254	ATC		0.438	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			20	277	0	0	0	0	20	277				
METTL3	56339	broad.mit.edu	37	14	21971333	21971333	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr14:21971333C>T	ENST00000298717.4	-	3	857	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K	METTL3_ENST00000538267.1_3'UTR	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	236					circadian rhythm (GO:0007623)|gene expression (GO:0010467)|mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|RNA methylation (GO:0001510)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		CTCTGTTGTTCCTTAGTGGAC	0.448																																						uc001wbc.2		NA																	0				pancreas(1)|skin(1)	2						c.(706-708)GAA>AAA		methyltransferase like 3							188.0	185.0	186.0					14																	21971333		2203	4300	6503	SO:0001583	missense	56339				gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding	g.chr14:21971333C>T	AF014837	CCDS32044.1	14q11.1	2012-06-12			ENSG00000165819	ENSG00000165819	2.1.1.62		17563	protein-coding gene	gene with protein product	"""N6-adenosine-methyltransferase 70 kDa subunit"""	612472					Standard	XM_006720206		Approved	Spo8, M6A, MT-A70	uc001wbc.3	Q86U44	OTTHUMG00000168825	ENST00000298717.4:c.706G>A	14.37:g.21971333C>T	ENSP00000298717:p.Glu236Lys					METTL3_uc001wbb.2_Missense_Mutation_p.E81K|METTL3_uc010tlw.1_RNA|METTL3_uc010tlx.1_Missense_Mutation_p.E236K|METTL3_uc001wbd.1_Missense_Mutation_p.E236K	p.E236K	NM_019852	NP_062826	Q86U44	MTA70_HUMAN	Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)	3	798	-	all_cancers(95;0.000628)		236					O14736|Q86V05|Q9HB32	Missense_Mutation	SNP	ENST00000298717.4	37	c.706G>A	CCDS32044.1	.	.	.	.	.	.	.	.	.	.	C	32	5.152971	0.94645	.	.	ENSG00000165819	ENST00000298717	T	0.28666	1.6	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.56702	0.2003	M	0.69823	2.125	0.80722	D	1	D;D;P	0.67145	0.996;0.996;0.952	D;D;P	0.77557	0.986;0.99;0.625	T	0.58329	-0.7655	10	0.87932	D	0	-21.8541	18.0313	0.89285	0.0:1.0:0.0:0.0	.	236;236;236	B4E2F6;B4DTN4;Q86U44	.;.;MTA70_HUMAN	K	236	ENSP00000298717:E236K	ENSP00000298717:E236K	E	-	1	0	METTL3	21041173	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.739000	0.74827	2.797000	0.96272	0.563000	0.77884	GAA		0.448	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401227.1	NM_019852		38	114	0	0	0	0	38	114				
RTN1	6252	broad.mit.edu	37	14	60212930	60212930	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr14:60212930T>C	ENST00000267484.5	-	2	846	c.511A>G	c.(511-513)Act>Gct	p.T171A		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	171					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TCTGCAGGAGTCATCTCTATT	0.507																																						uc001xen.1		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(511-513)ACT>GCT		reticulon 1 isoform A							107.0	106.0	106.0					14																	60212930		2203	4300	6503	SO:0001583	missense	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60212930T>C	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.511A>G	14.37:g.60212930T>C	ENSP00000267484:p.Thr171Ala						p.T171A	NM_021136	NP_066959	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	2	720	-			171					Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	c.511A>G	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.037816	0.75617	.	.	ENSG00000139970	ENST00000267484;ENST00000433623	T	0.26518	1.73	5.48	5.48	0.80851	.	0.521809	0.22495	N	0.059315	T	0.43478	0.1249	M	0.72894	2.215	0.47407	D	0.999418	D	0.60575	0.988	P	0.54759	0.76	T	0.30592	-0.9973	10	0.38643	T	0.18	.	15.552	0.76161	0.0:0.0:0.0:1.0	.	171	Q16799	RTN1_HUMAN	A	171;97	ENSP00000267484:T171A	ENSP00000267484:T171A	T	-	1	0	RTN1	59282683	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.887000	0.69751	2.079000	0.62486	0.455000	0.32223	ACT		0.507	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			32	36	0	0	0	0	32	36				
SYNE2	23224	broad.mit.edu	37	14	64486767	64486767	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr14:64486767A>G	ENST00000344113.4	+	35	5319	c.5107A>G	c.(5107-5109)Ata>Gta	p.I1703V	SYNE2_ENST00000358025.3_Missense_Mutation_p.I1703V|SYNE2_ENST00000554584.1_Missense_Mutation_p.I1703V|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1703					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGTGGCTGAAATACAGTTTTT	0.299																																						uc001xgm.2		NA																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(5107-5109)ATA>GTA		spectrin repeat containing, nuclear envelope 2							66.0	67.0	67.0					14																	64486767		1801	4065	5866	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64486767A>G	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.5107A>G	14.37:g.64486767A>G	ENSP00000341781:p.Ile1703Val					SYNE2_uc001xgl.2_Missense_Mutation_p.I1703V	p.I1703V	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	35	5337	+			1703			Cytoplasmic (Potential).|Potential.		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.5107A>G	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	14.40	2.525579	0.44969	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.63255	1.44;1.44;-0.03	5.54	4.4	0.53042	.	0.000000	0.64402	D	0.000005	T	0.55305	0.1912	L	0.58101	1.795	0.80722	D	1	B;B	0.31705	0.227;0.336	B;B	0.30782	0.056;0.12	T	0.52049	-0.8627	10	0.33940	T	0.23	.	10.1028	0.42515	0.9239:0.0:0.0761:0.0	.	1703;1703	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	V	1703	ENSP00000350719:I1703V;ENSP00000341781:I1703V;ENSP00000452570:I1703V	ENSP00000261678:I1703V	I	+	1	0	SYNE2	63556520	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.575000	0.46025	1.049000	0.40321	0.455000	0.32223	ATA		0.299	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		14	72	0	0	0	0	14	72				
ITPK1	3705	broad.mit.edu	37	14	93412779	93412779	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr14:93412779G>A	ENST00000267615.6	-	10	971	c.798C>T	c.(796-798)tcC>tcT	p.S266S	ITPK1_ENST00000555495.1_Silent_p.S147S|ITPK1_ENST00000556603.2_Silent_p.S266S|ITPK1_ENST00000556954.1_5'UTR|ITPK1_ENST00000354313.3_Silent_p.S266S			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	266	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				blood coagulation (GO:0007596)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|inositol trisphosphate metabolic process (GO:0032957)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|inositol tetrakisphosphate 1-kinase activity (GO:0047325)|inositol-1,3,4,5,6-pentakisphosphate 1-phosphatase activity (GO:0052825)|inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity (GO:0052831)|inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity (GO:0052830)|inositol-1,3,4-trisphosphate 5-kinase activity (GO:0052726)|inositol-1,3,4-trisphosphate 6-kinase activity (GO:0052725)|inositol-3,4,6-trisphosphate 1-kinase activity (GO:0052835)|isomerase activity (GO:0016853)|magnesium ion binding (GO:0000287)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		GCAGGGCCCGGGAGAGCTCCC	0.617																																						uc001ybg.2		NA																	0					0						c.(796-798)TCC>TCT		inositol 1,3,4-triphosphate 5/6 kinase isoform							89.0	82.0	84.0					14																	93412779		2203	4300	6503	SO:0001819	synonymous_variant	3705				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding	g.chr14:93412779G>A	U51336	CCDS9907.1, CCDS45157.1	14q32.12	2012-08-16	2011-04-28		ENSG00000100605	ENSG00000100605	2.7.1.134		6177	protein-coding gene	gene with protein product		601838	"""inositol 1,3,4-triphosphate 5/6 kinase"""			8662638, 11042108	Standard	NM_014216		Approved		uc001ybh.3	Q13572	OTTHUMG00000171226	ENST00000267615.6:c.798C>T	14.37:g.93412779G>A						ITPK1_uc001ybe.2_Silent_p.S266S|ITPK1_uc001ybf.2_Silent_p.S147S|ITPK1_uc001ybh.2_Silent_p.S266S	p.S266S	NM_014216	NP_055031	Q13572	ITPK1_HUMAN		Epithelial(152;0.124)|all cancers(159;0.169)	10	1087	-		all_cancers(154;0.077)|all_epithelial(191;0.247)	266			ATP-grasp.		Q9BTL6|Q9H2E7	Silent	SNP	ENST00000267615.6	37	c.798C>T	CCDS9907.1																																																																																				0.617	ITPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412421.2	NM_014216		12	43	0	0	0	0	12	43				
VPS33B	26276	broad.mit.edu	37	15	91557634	91557634	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr15:91557634T>C	ENST00000333371.3	-	4	622	c.269A>G	c.(268-270)aAg>aGg	p.K90R	VPS33B_ENST00000535906.1_Missense_Mutation_p.K63R|VPS33B_ENST00000557358.1_5'UTR|VPS33B_ENST00000535843.1_5'UTR	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	90					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|membrane fusion (GO:0061025)|platelet alpha granule organization (GO:0070889)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule (GO:0031091)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					TCGCATATTCTTGATGCGGGG	0.428																																						uc002bqp.1		NA																	0				ovary(2)	2						c.(268-270)AAG>AGG		vacuolar protein sorting 33B (yeast homolog))							212.0	202.0	206.0					15																	91557634		2198	4298	6496	SO:0001583	missense	26276				cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding	g.chr15:91557634T>C	AF201694	CCDS10369.1, CCDS73783.1	15q26.1	2006-12-19	2006-12-19		ENSG00000184056	ENSG00000184056			12712	protein-coding gene	gene with protein product		608552	"""vacuolar protein sorting 33B (yeast homolog)"""			8996080	Standard	XM_005254887		Approved	FLJ14848	uc002bqp.1	Q9H267	OTTHUMG00000149835	ENST00000333371.3:c.269A>G	15.37:g.91557634T>C	ENSP00000327650:p.Lys90Arg					VPS33B_uc002bqq.1_5'UTR|VPS33B_uc010uqu.1_Missense_Mutation_p.K63R	p.K90R	NM_018668	NP_061138	Q9H267	VP33B_HUMAN			4	623	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		90					B3KQF6|Q96K14|Q9NRP6|Q9NSF3	Missense_Mutation	SNP	ENST00000333371.3	37	c.269A>G	CCDS10369.1	.	.	.	.	.	.	.	.	.	.	T	11.07	1.530509	0.27387	.	.	ENSG00000184056	ENST00000333371;ENST00000535906;ENST00000537510	T;T	0.77620	-1.11;-1.11	5.11	1.45	0.22620	.	0.293466	0.36482	N	0.002562	T	0.53029	0.1771	N	0.10874	0.06	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.25398	-1.0133	10	0.17832	T	0.49	-25.4675	7.2723	0.26264	0.0:0.3437:0.0:0.6563	.	63;90	F5H008;Q9H267	.;VP33B_HUMAN	R	90;63;45	ENSP00000327650:K90R;ENSP00000444053:K63R	ENSP00000327650:K90R	K	-	2	0	VPS33B	89358638	0.990000	0.36364	0.998000	0.56505	0.992000	0.81027	-0.065000	0.11617	0.409000	0.25649	0.533000	0.62120	AAG		0.428	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313496.1	NM_018668		33	144	0	0	0	0	33	144				
MSLNL	401827	broad.mit.edu	37	16	830539	830539	+	Intron	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr16:830539C>T	ENST00000442466.1	-	2	37				MSLNL_ENST00000293892.3_Silent_p.P154P			Q96KJ4	MSLNL_HUMAN	mesothelin-like						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						ACAGTGTGCACGGGTAGGTGA	0.562																																						uc002cjz.1		NA																	0				breast(3)|ovary(1)	4						c.(460-462)CCG>CCA		mesothelin-like							300.0	258.0	273.0					16																	830539		2175	4256	6431	SO:0001627	intron_variant	401827				cell adhesion	integral to membrane		g.chr16:830539C>T			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.38-377G>A	16.37:g.830539C>T							p.P154P	NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN			3	462	-			Error:Variant_position_missing_in_Q96KJ4_after_alignment						Silent	SNP	ENST00000442466.1	37	c.462G>A																																																																																					0.562	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		12	93	0	0	0	0	12	93				
TNRC6A	27327	broad.mit.edu	37	16	24826581	24826581	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr16:24826581C>T	ENST00000395799.3	+	19	4915	c.4786C>T	c.(4786-4788)Cgt>Tgt	p.R1596C	CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000315183.7_Missense_Mutation_p.R1547C|TNRC6A_ENST00000432286.2_Missense_Mutation_p.R74C	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1596					cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TGGCTGGCCACGTGCCAAATC	0.448																																						uc002dmm.2		NA																	0				ovary(2)	2						c.(4786-4788)CGT>TGT		trinucleotide repeat containing 6A							86.0	81.0	83.0					16																	24826581		2197	4300	6497	SO:0001583	missense	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24826581C>T	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.4786C>T	16.37:g.24826581C>T	ENSP00000379144:p.Arg1596Cys					TNRC6A_uc010bxs.2_Missense_Mutation_p.R1343C|TNRC6A_uc002dmn.2_Missense_Mutation_p.R1294C|TNRC6A_uc002dmo.2_Missense_Mutation_p.R1235C|TNRC6A_uc002dmp.2_Missense_Mutation_p.R197C|TNRC6A_uc002dmq.2_Missense_Mutation_p.R263C	p.R1596C	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	19	4900	+			1596					C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	c.4786C>T	CCDS10624.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.4|24.4	4.532363|4.532363	0.85812|0.85812	.|.	.|.	ENSG00000090905|ENSG00000090905	ENST00000315183;ENST00000395799;ENST00000432286|ENST00000450465	T;T|.	0.14640|.	2.52;2.49|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72771|0.72771	0.3502|0.3502	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.999;0.978;0.993;1.0|.	P;P;P;D|.	0.64506|.	0.855;0.676;0.707;0.926|.	T|T	0.70659|0.70659	-0.4811|-0.4811	10|5	0.56958|.	D|.	0.05|.	-8.203|-8.203	15.0829|15.0829	0.72127|0.72127	0.1417:0.8583:0.0:0.0|0.1417:0.8583:0.0:0.0	.|.	263;735;1547;1596|.	B3KSX2;C9JA83;Q8NDV7-6;Q8NDV7|.	.;.;.;TNR6A_HUMAN|.	C|M	1547;1596;74|486	ENSP00000326900:R1547C;ENSP00000379144:R1596C|.	ENSP00000326900:R1547C|.	R|T	+|+	1|2	0|0	TNRC6A|TNRC6A	24734082|24734082	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.867000|4.867000	0.63013|0.63013	2.809000|2.809000	0.96659|0.96659	0.655000|0.655000	0.94253|0.94253	CGT|ACG		0.448	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		7	31	0	0	0	0	7	31				
CDH16	1014	broad.mit.edu	37	16	66945163	66945163	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr16:66945163C>T	ENST00000299752.4	-	14	2039	c.1846G>A	c.(1846-1848)Gag>Aag	p.E616K	CDH16_ENST00000565796.1_Missense_Mutation_p.E616K|CDH16_ENST00000394055.3_Missense_Mutation_p.E616K|CDH16_ENST00000570262.1_Missense_Mutation_p.E536K|CDH16_ENST00000568632.1_Missense_Mutation_p.E519K	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	616	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GTGTGCACCTCCCCGGAGAAT	0.597																																						uc002eql.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(1846-1848)GAG>AAG		cadherin 16 precursor							41.0	39.0	40.0					16																	66945163		2200	4300	6500	SO:0001583	missense	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66945163C>T	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.1846G>A	16.37:g.66945163C>T	ENSP00000299752:p.Glu616Lys					CDH16_uc010cdy.2_Missense_Mutation_p.E616K|CDH16_uc002eqm.2_Missense_Mutation_p.E519K	p.E616K	NM_004062	NP_004053	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	14	1919	-		Ovarian(137;0.0563)	616			Extracellular (Potential).|Cadherin 6.		B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	c.1846G>A	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.471219	0.26423	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.70869	-0.52;0.06	4.96	1.91	0.25777	Cadherin (3);Cadherin-like (1);	0.123853	0.53938	N	0.000051	T	0.62171	0.2406	M	0.66297	2.02	0.45261	D	0.998267	B;B;B	0.22541	0.02;0.032;0.071	B;B;B	0.19666	0.016;0.019;0.026	T	0.54622	-0.8266	10	0.42905	T	0.14	-14.0709	4.8446	0.13507	0.0:0.6322:0.1763:0.1915	.	616;616;616	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	K	616;616;580	ENSP00000377619:E616K;ENSP00000299752:E616K	ENSP00000299752:E616K	E	-	1	0	CDH16	65502664	0.904000	0.30761	1.000000	0.80357	0.239000	0.25481	-0.046000	0.11983	0.272000	0.22027	-0.448000	0.05591	GAG		0.597	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		3	18	0	0	0	0	3	18				
PMFBP1	83449	broad.mit.edu	37	16	72173223	72173223	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr16:72173223G>A	ENST00000237353.10	-	7	1144	c.883C>T	c.(883-885)Cct>Tct	p.P295S	PMFBP1_ENST00000355636.6_Missense_Mutation_p.P150S|PMFBP1_ENST00000537465.1_Missense_Mutation_p.P295S	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	295						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GAGGAGCTAGGAGGGTATCTG	0.463																																						uc002fcc.3		NA																	0				ovary(2)	2						c.(883-885)CCT>TCT		polyamine modulated factor 1 binding protein 1							146.0	127.0	133.0					16																	72173223		2198	4300	6498	SO:0001583	missense	83449							g.chr16:72173223G>A	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.883C>T	16.37:g.72173223G>A	ENSP00000237353:p.Pro295Ser					PMFBP1_uc002fcd.2_Missense_Mutation_p.P295S|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Missense_Mutation_p.P150S	p.P295S	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN			7	1055	-		Ovarian(137;0.179)	295					B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000237353.10	37	c.883C>T	CCDS32483.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.869223	0.51588	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000355636	T;T;T	0.11930	2.74;2.74;2.73	5.62	1.98	0.26296	.	0.000000	0.49305	D	0.000141	T	0.05777	0.0151	N	0.24115	0.695	0.09310	N	1	B;B;B	0.28998	0.23;0.093;0.093	B;B;B	0.28784	0.094;0.094;0.094	T	0.27640	-1.0068	10	0.09590	T	0.72	-2.1588	1.1153	0.01713	0.2228:0.1678:0.4355:0.1738	.	295;295;295	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	S	295;295;150	ENSP00000443817:P295S;ENSP00000237353:P295S;ENSP00000347854:P150S	ENSP00000237353:P295S	P	-	1	0	PMFBP1	70730724	0.931000	0.31567	0.996000	0.52242	0.545000	0.35147	0.873000	0.28052	1.379000	0.46325	0.655000	0.94253	CCT		0.463	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293		4	15	0	0	0	0	4	15				
PKD1L2	114780	broad.mit.edu	37	16	81142842	81142842	+	RNA	SNP	T	T	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr16:81142842T>C	ENST00000534142.1	-	0	1430				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA|RNU6-1191P_ENST00000516799.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GACCATCGTCTCCGCCGCATC	0.502																																						uc002fgh.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(7042-7044)GAG>GGG		polycystin 1-like 2 isoform a							45.0	48.0	47.0					16																	81142842		1969	4136	6105			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81142842T>C	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81142842T>C						PKD1L2_uc002fgf.1_Missense_Mutation_p.E148G|PKD1L2_uc002fgg.1_RNA	p.E2348G	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			43	7043	-			2348			Channel pore-region.|Cytoplasmic (Potential).		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000534142.1	37	c.7043A>G																																																																																					0.502	PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	polymorphic_pseudogene	OTTHUMT00000387969.1			4	9	0	0	0	0	4	9				
SLC25A35	399512	broad.mit.edu	37	17	8197904	8197904	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr17:8197904G>A	ENST00000577745.1	-	1	732	c.222C>T	c.(220-222)ttC>ttT	p.F74F	SLC25A35_ENST00000396278.1_Silent_p.F74F|SLC25A35_ENST00000380067.2_Silent_p.F74F|SLC25A35_ENST00000580340.1_Silent_p.F74F|SLC25A35_ENST00000579192.1_Silent_p.F74F			Q3KQZ1	S2535_HUMAN	solute carrier family 25, member 35	74					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(2)|large_intestine(2)|lung(2)	6						CATTCATCAGGAACTGGTACA	0.627																																						uc002gla.3		NA																	0					0						c.(220-222)TTC>TTT		solute carrier family 25, member 35							51.0	49.0	50.0					17																	8197904		2203	4300	6503	SO:0001819	synonymous_variant	399512				transport	integral to membrane|mitochondrial inner membrane		g.chr17:8197904G>A	AY498866	CCDS11138.1	17p13.1	2013-05-22			ENSG00000125434	ENSG00000125434		"""Solute carriers"""	31921	protein-coding gene	gene with protein product		610818					Standard	NM_201520		Approved	FLJ40217	uc002gku.1	Q3KQZ1		ENST00000577745.1:c.222C>T	17.37:g.8197904G>A						SLC25A35_uc002gku.1_Silent_p.F74F|SLC25A35_uc002gkt.2_Silent_p.F74F|SLC25A35_uc002gkz.1_RNA	p.F74F	NM_201520	NP_958928	Q3KQZ1	S2535_HUMAN			1	267	-			74			Solcar 1.|Helical; Name=2; (Potential).		Q494X5|Q6RGS3|Q8N7Y5	Silent	SNP	ENST00000577745.1	37	c.222C>T																																																																																					0.627	SLC25A35-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442146.1	NM_201520		9	37	0	0	0	0	9	37				
MYH8	4626	broad.mit.edu	37	17	10296168	10296168	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr17:10296168T>C	ENST00000403437.2	-	37	5537	c.5443A>G	c.(5443-5445)Atc>Gtc	p.I1815V	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1815					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AGTTTCTGGATCTGCTTCTTC	0.552									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2		NA																	0				skin(6)|ovary(3)|breast(2)	11						c.(5443-5445)ATC>GTC		myosin, heavy chain 8, skeletal muscle,							137.0	137.0	137.0					17																	10296168		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10296168T>C		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.5443A>G	17.37:g.10296168T>C	ENSP00000384330:p.Ile1815Val					uc002gml.1_Intron	p.I1815V	NM_002472	NP_002463	P13535	MYH8_HUMAN			37	5538	-			1815			Potential.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.5443A>G	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	T	8.718	0.913698	0.17907	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.81163	-1.46	5.06	5.06	0.68205	Myosin tail (1);	0.000000	0.42420	U	0.000703	T	0.69672	0.3137	L	0.28649	0.875	0.37433	D	0.914091	B	0.11235	0.004	B	0.20955	0.032	T	0.67577	-0.5635	10	0.29301	T	0.29	.	10.7631	0.46277	0.0:0.0:0.2878:0.7122	.	1815	P13535	MYH8_HUMAN	V	1815	ENSP00000384330:I1815V	ENSP00000252173:I1815V	I	-	1	0	MYH8	10236893	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.350000	0.20079	2.136000	0.66102	0.528000	0.53228	ATC		0.552	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		18	121	0	0	0	0	18	121				
NCOR1	9611	broad.mit.edu	37	17	15971267	15971267	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr17:15971267C>T	ENST00000268712.3	-	32	4939	c.4682G>A	c.(4681-4683)cGg>cAg	p.R1561Q	NCOR1_ENST00000395851.1_Missense_Mutation_p.R1577Q|NCOR1_ENST00000395857.3_Missense_Mutation_p.R145Q	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1561	Interaction with C1D. {ECO:0000250}.|Interaction with ETO.			R -> W (in Ref. 1; AAC33550). {ECO:0000305}.	CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CAGGTGGCTCCGATAAACCTC	0.512																																						uc002gpo.2		NA																	0				upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5						c.(4681-4683)CGG>CAG		nuclear receptor co-repressor 1							87.0	82.0	84.0					17																	15971267		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15971267C>T	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.4682G>A	17.37:g.15971267C>T	ENSP00000268712:p.Arg1561Gln					NCOR1_uc002gpn.2_Missense_Mutation_p.R1577Q|NCOR1_uc002gpm.2_Missense_Mutation_p.R82Q|NCOR1_uc010vwb.1_Missense_Mutation_p.R145Q|NCOR1_uc010coy.2_Missense_Mutation_p.R469Q|NCOR1_uc010vwc.1_Missense_Mutation_p.R372Q	p.R1561Q	NM_006311	NP_006302	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	32	4922	-			1561	R -> W (in Ref. 1; AAC33550).		Interaction with ETO.|Interaction with C1D (By similarity).		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.4682G>A	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	C	37	6.138938	0.97315	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	T;T;T	0.53206	0.63;0.63;0.63	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.71719	0.3373	M	0.79475	2.455	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.993;0.99;0.992;0.996;0.998	T	0.73739	-0.3888	10	0.87932	D	0	-11.3394	19.1813	0.93625	0.0:1.0:0.0:0.0	.	372;1466;1561;1577;82	B4DZ48;E7EVK1;O75376;O75376-2;Q86YY1	.;.;NCOR1_HUMAN;.;.	Q	1561;1577;1466;145	ENSP00000268712:R1561Q;ENSP00000379192:R1577Q;ENSP00000379198:R145Q	ENSP00000268712:R1561Q	R	-	2	0	NCOR1	15911992	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.446000	0.60014	2.771000	0.95319	0.563000	0.77884	CGG		0.512	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		9	40	0	0	0	0	9	40				
MYO15A	51168	broad.mit.edu	37	17	18052259	18052259	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr17:18052259C>T	ENST00000205890.5	+	33	7287	c.6949C>T	c.(6949-6951)Ccc>Tcc	p.P2317S	snoU13_ENST00000459354.1_RNA	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2317	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CAGGGGAGGCCCCAAAGTGTA	0.642																																						uc010vxh.1		NA																	0				skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9						c.(6949-6951)CCC>TCC		myosin XV							13.0	14.0	14.0					17																	18052259		1908	4112	6020	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18052259C>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.6949C>T	17.37:g.18052259C>T	ENSP00000205890:p.Pro2317Ser						p.P2317S	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			32	7287	+	all_neural(463;0.228)		2317			Tail.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.6949C>T	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	c	11.68	1.710449	0.30322	.	.	ENSG00000091536	ENST00000205890	D	0.87103	-2.21	4.85	-1.13	0.09775	.	.	.	.	.	T	0.73729	0.3624	L	0.38953	1.18	0.21499	N	0.999663	B	0.06786	0.001	B	0.04013	0.001	T	0.54754	-0.8246	9	0.10377	T	0.69	.	2.2172	0.03963	0.3531:0.3793:0.0997:0.1679	.	2317	Q9UKN7	MYO15_HUMAN	S	2317	ENSP00000205890:P2317S	ENSP00000205890:P2317S	P	+	1	0	MYO15A	17992984	0.015000	0.18098	0.734000	0.30879	0.729000	0.41735	0.023000	0.13533	0.427000	0.26145	0.450000	0.29827	CCC		0.642	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		2	4	0	0	0	0	2	4				
ASIC2	40	broad.mit.edu	37	17	32483504	32483504	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr17:32483504G>A	ENST00000359872.6	-	1	809	c.48C>T	c.(46-48)agC>agT	p.S16S		NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	16					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	AGATCTGGATGCTAGAAGGTT	0.587																																						uc002hhu.2		NA																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(46-48)AGC>AGT		amiloride-sensitive cation channel 1, neuronal	Amiloride(DB00594)						46.0	54.0	51.0					17																	32483504		2192	4288	6480	SO:0001819	synonymous_variant	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:32483504G>A	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.48C>T	17.37:g.32483504G>A							p.S16S	NM_001094	NP_001085	Q16515	ACCN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215)	1	322	-		Breast(31;0.042)|Ovarian(249;0.202)	16			Cytoplasmic (By similarity).		E9PBX2|Q13553|Q6DJU1|Q8N3E2	Silent	SNP	ENST00000359872.6	37	c.48C>T	CCDS42296.1																																																																																				0.587	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		14	25	0	0	0	0	14	25				
HEATR9	256957	broad.mit.edu	37	17	34185484	34185484	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr17:34185484C>T	ENST00000311880.2	-	10	1133	c.985G>A	c.(985-987)Gtc>Atc	p.V329I	C17orf66_ENST00000592980.1_Missense_Mutation_p.V289I	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		329					hematopoietic progenitor cell differentiation (GO:0002244)					breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		GCCTTGATGACTGGGGCTGAG	0.572																																						uc002hke.1		NA																	0				breast(2)|skin(1)	3						c.(985-987)GTC>ATC		hypothetical protein LOC256957							126.0	85.0	99.0					17																	34185484		2203	4300	6503	SO:0001583	missense	256957						binding	g.chr17:34185484C>T																												ENST00000311880.2:c.985G>A	17.37:g.34185484C>T	ENSP00000309560:p.Val329Ile					C17orf66_uc010wck.1_RNA|C17orf66_uc010wcl.1_Missense_Mutation_p.V289I|C17orf66_uc010wcm.1_Missense_Mutation_p.V295I	p.V329I	NM_152781	NP_689994	A2RTY3	CQ066_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	10	1134	-		Ovarian(249;0.17)	329					B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Missense_Mutation	SNP	ENST00000311880.2	37	c.985G>A	CCDS11299.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.616930	0.28801	.	.	ENSG00000172653	ENST00000311880	T	0.48522	0.81	4.02	3.05	0.35203	Armadillo-like helical (1);Armadillo-type fold (1);	0.219636	0.23724	N	0.045181	T	0.31796	0.0808	L	0.32530	0.975	0.09310	N	1	B;B;B	0.31931	0.347;0.347;0.235	B;B;B	0.31812	0.136;0.094;0.064	T	0.10268	-1.0637	10	0.32370	T	0.25	.	6.8944	0.24247	0.0:0.8756:0.0:0.1244	.	295;289;329	A2RTY3-4;A2RTY3-3;A2RTY3	.;.;CQ066_HUMAN	I	329	ENSP00000309560:V329I	ENSP00000309560:V329I	V	-	1	0	C17orf66	31209597	0.809000	0.29036	0.374000	0.26016	0.851000	0.48451	1.144000	0.31565	2.235000	0.73313	0.305000	0.20034	GTC		0.572	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1			3	24	0	0	0	0	3	24				
ACACA	31	broad.mit.edu	37	17	35600372	35600372	+	Missense_Mutation	SNP	G	G	T	rs371689992		TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr17:35600372G>T	ENST00000394406.2	-	22	2925	c.2735C>A	c.(2734-2736)cCc>cAc	p.P912H	ACACA_ENST00000353139.5_Missense_Mutation_p.P949H|ACACA_ENST00000360679.3_Missense_Mutation_p.P854H|ACACA_ENST00000335166.5_Missense_Mutation_p.P834H	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	912					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTCCACATTGGGGGGAATGCG	0.468																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(2734-2736)CCC>CAC		acetyl-Coenzyme A carboxylase alpha isoform 2	Biotin(DB00121)						212.0	202.0	205.0					17																	35600372		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35600372G>T	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.2735C>A	17.37:g.35600372G>T	ENSP00000377928:p.Pro912His					ACACA_uc002hnk.2_Missense_Mutation_p.P834H|ACACA_uc002hnl.2_Missense_Mutation_p.P854H|ACACA_uc002hnn.2_Missense_Mutation_p.P912H|ACACA_uc002hno.2_Missense_Mutation_p.P949H|ACACA_uc010cuz.2_Missense_Mutation_p.P912H	p.P912H	NM_198836	NP_942133	Q13085	ACACA_HUMAN			22	2926	-		Breast(25;0.00157)|Ovarian(249;0.15)	912					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.2735C>A	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.631841	0.29068	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	4.9	3.84	0.44239	Acetyl-CoA carboxylase, central domain (1);	0.055638	0.85682	D	0.000000	T	0.67363	0.2885	L	0.52126	1.63	0.80722	D	1	D;B;B	0.54047	0.964;0.105;0.086	P;B;B	0.60789	0.879;0.081;0.049	T	0.65417	-0.6173	10	0.44086	T	0.13	-4.9846	8.0543	0.30596	0.1467:0.0:0.8533:0.0	.	949;912;854	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	H	949;854;912;936;834	ENSP00000344789:P949H;ENSP00000353898:P854H;ENSP00000377928:P912H;ENSP00000335323:P834H	ENSP00000335323:P834H	P	-	2	0	ACACA	32674485	1.000000	0.71417	0.901000	0.35422	0.921000	0.55340	5.505000	0.66981	1.025000	0.39708	0.563000	0.77884	CCC		0.468	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		20	128	1	0	1.34e-09	1.52e-09	20	128				
CACNG5	27091	broad.mit.edu	37	17	64876725	64876725	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr17:64876725T>G	ENST00000533854.1	+	4	572	c.335T>G	c.(334-336)tTc>tGc	p.F112C	CACNG5_ENST00000307139.3_Missense_Mutation_p.F112C|CACNG5_ENST00000169565.3_Missense_Mutation_p.F112C			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	112					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ion transmembrane transporter activity (GO:0015075)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			TTCTTCATGTTCATTGGGTTT	0.512																																						uc010wqi.1		NA																	0				pancreas(1)|skin(1)	2						c.(334-336)TTC>TGC		voltage-dependent calcium channel gamma-5							297.0	225.0	250.0					17																	64876725		2203	4300	6503	SO:0001583	missense	27091				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity	g.chr17:64876725T>G	AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429		"""Calcium channel subunits"""	1409	protein-coding gene	gene with protein product		606405				10613843	Standard	NM_145811		Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.335T>G	17.37:g.64876725T>G	ENSP00000436836:p.Phe112Cys					CACNG5_uc002jfr.2_Missense_Mutation_p.F112C|CACNG5_uc010wqj.1_Missense_Mutation_p.F112C	p.F112C	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.61e-08)		4	572	+			112			Helical; (Potential).		A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Missense_Mutation	SNP	ENST00000533854.1	37	c.335T>G	CCDS11665.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.969068	0.74131	.	.	ENSG00000075429	ENST00000533854;ENST00000307139;ENST00000169565	D;D;D	0.88509	-2.39;-2.39;-2.39	3.67	3.67	0.42095	.	0.000000	0.85682	D	0.000000	D	0.91560	0.7334	M	0.79258	2.445	0.58432	D	0.999998	P	0.48694	0.914	P	0.53450	0.726	D	0.91220	0.5006	10	0.44086	T	0.13	-15.4389	12.1726	0.54167	0.0:0.0:0.0:1.0	.	112	Q9UF02	CCG5_HUMAN	C	112	ENSP00000436836:F112C;ENSP00000303092:F112C;ENSP00000169565:F112C	ENSP00000169565:F112C	F	+	2	0	CACNG5	62307187	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.602000	0.82796	1.599000	0.50093	0.482000	0.46254	TTC		0.512	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389882.1	NM_014404, NM_145811		21	78	0	0	0	0	21	78				
POTEC	388468	broad.mit.edu	37	18	14542833	14542833	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr18:14542833A>C	ENST00000358970.5	-	1	312	c.313T>G	c.(313-315)Tgc>Ggc	p.C105G	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	105										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CAGGGGAAGCAGTGACAGCAC	0.617																																						uc010dln.2		NA																	0				skin(3)	3						c.(313-315)TGC>GGC		ANKRD26-like family B, member 2							25.0	35.0	32.0					18																	14542833		692	1590	2282	SO:0001583	missense	388468							g.chr18:14542833A>C	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.313T>G	18.37:g.14542833A>C	ENSP00000351856:p.Cys105Gly					POTEC_uc010xaj.1_RNA	p.C105G	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			1	767	-			105						Missense_Mutation	SNP	ENST00000358970.5	37	c.313T>G	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	A	4.362	0.066654	0.08388	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.33654	1.4	0.458	0.458	0.16670	.	.	.	.	.	T	0.28665	0.0710	L	0.50333	1.59	0.09310	N	1	B	0.26672	0.156	B	0.19666	0.026	T	0.26258	-1.0108	8	0.62326	D	0.03	.	.	.	.	.	105	B2RU33	POTEC_HUMAN	G	105	ENSP00000351856:C105G	ENSP00000351856:C105G	C	-	1	0	POTEC	14532833	0.002000	0.14202	0.007000	0.13788	0.028000	0.11728	0.336000	0.19823	0.388000	0.25054	0.166000	0.16787	TGC		0.617	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		11	147	0	0	0	0	11	147				
ONECUT2	9480	broad.mit.edu	37	18	55143819	55143819	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr18:55143819C>T	ENST00000491143.2	+	2	1411	c.1379C>T	c.(1378-1380)tCc>tTc	p.S460F		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	460					cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)	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)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		ATCACCATTTCCCAGCAGCTG	0.582																																						uc002lgo.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1378-1380)TCC>TTC		one cut domain, family member 2							63.0	71.0	68.0					18																	55143819		2113	4252	6365	SO:0001583	missense	9480				organ morphogenesis	nucleus	sequence-specific DNA binding	g.chr18:55143819C>T	Y18198	CCDS42440.1	18q21.31	2012-03-09	2007-07-16		ENSG00000119547	ENSG00000119547		"""Homeoboxes / CUT class"""	8139	protein-coding gene	gene with protein product		604894	"""one cut domain, family member 2"""			9915796	Standard	NM_004852		Approved	OC-2	uc002lgo.3	O95948	OTTHUMG00000159776	ENST00000491143.2:c.1379C>T	18.37:g.55143819C>T	ENSP00000419185:p.Ser460Phe						p.S460F	NM_004852	NP_004843	O95948	ONEC2_HUMAN		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)	2	1411	+		Colorectal(73;0.234)	460			Homeobox.			Missense_Mutation	SNP	ENST00000491143.2	37	c.1379C>T	CCDS42440.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.790528	0.90367	.	.	ENSG00000119547	ENST00000491143;ENST00000262095	.	.	.	6.02	6.02	0.97574	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.070046	0.64402	D	0.000018	D	0.84817	0.5556	M	0.87682	2.9	0.80722	D	1	D	0.69078	0.997	D	0.69654	0.965	D	0.86157	0.1591	9	0.87932	D	0	-14.6676	20.1323	0.98003	0.0:1.0:0.0:0.0	.	460	O95948	ONEC2_HUMAN	F	441;460	.	ENSP00000262095:S460F	S	+	2	0	ONECUT2	53294817	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.857000	0.98124	0.650000	0.86243	TCC		0.582	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357264.3			15	39	0	0	0	0	15	39				
MYO1F	4542	broad.mit.edu	37	19	8618065	8618065	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr19:8618065G>A	ENST00000338257.8	-	6	729	c.462C>T	c.(460-462)ttC>ttT	p.F154F		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	154	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TGGCGTTGCCGAAGGCCTCGA	0.577																																						uc002mkg.2		NA																	0				ovary(2)|skin(1)	3						c.(460-462)TTC>TTT		myosin IF							138.0	143.0	141.0					19																	8618065		2201	4300	6501	SO:0001819	synonymous_variant	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8618065G>A	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.462C>T	19.37:g.8618065G>A						MYO1F_uc002mkh.2_Silent_p.F154F|MYO1F_uc010xkf.1_Silent_p.F154F	p.F154F	NM_012335	NP_036467	O00160	MYO1F_HUMAN			6	576	-			154			Myosin head-like.		Q8WWN7	Silent	SNP	ENST00000338257.8	37	c.462C>T	CCDS42494.1																																																																																				0.577	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			8	67	0	0	0	0	8	67				
PBX4	80714	broad.mit.edu	37	19	19681616	19681616	+	Missense_Mutation	SNP	C	C	T	rs147300531		TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr19:19681616C>T	ENST00000251203.9	-	3	506	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	74					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|XY body (GO:0001741)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						GGGGGATCTTCGTCTTGAATG	0.537																																						uc002nmy.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(220-222)GAA>AAA		pre-B-cell leukemia homeobox 4		C	LYS/GLU	2,4404	4.2+/-10.8	0,2,2201	68.0	70.0	70.0		220	2.2	0.1	19	dbSNP_134	70	0,8600		0,0,4300	no	missense	PBX4	NM_025245.2	56	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	74/375	19681616	2,13004	2203	4300	6503	SO:0001583	missense	80714						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:19681616C>T	AJ300182	CCDS12406.1	19p13.11	2014-09-11	2007-01-30		ENSG00000105717			"""Homeoboxes / TALE class"""	13403	protein-coding gene	gene with protein product		608127	"""pre-B-cell leukemia transcription factor 4"""				Standard	NM_025245		Approved		uc002nmy.3	Q9BYU1	OTTHUMG00000172310	ENST00000251203.9:c.220G>A	19.37:g.19681616C>T	ENSP00000251203:p.Glu74Lys					PBX4_uc010xqz.1_RNA|PBX4_uc010xra.1_5'UTR	p.E74K	NM_025245	NP_079521	Q9BYU1	PBX4_HUMAN			3	221	-			74					A5D8Y0|B3KUK9	Missense_Mutation	SNP	ENST00000251203.9	37	c.220G>A	CCDS12406.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.247156	0.59103	4.54E-4	0.0	ENSG00000105717	ENST00000251203	T	0.33654	1.4	3.21	2.17	0.27698	PBX (1);	0.125962	0.52532	N	0.000068	T	0.35393	0.0930	M	0.74647	2.275	0.58432	D	0.999999	B	0.21452	0.056	B	0.17433	0.018	T	0.24368	-1.0162	10	0.62326	D	0.03	-28.2651	7.9249	0.29867	0.0:0.8722:0.0:0.1278	.	74	Q9BYU1	PBX4_HUMAN	K	74	ENSP00000251203:E74K	ENSP00000251203:E74K	E	-	1	0	PBX4	19542616	1.000000	0.71417	0.066000	0.19879	0.605000	0.37080	4.790000	0.62453	0.561000	0.29186	0.196000	0.17591	GAA		0.537	PBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417784.6			7	65	0	0	0	0	7	65				
ZNF585B	92285	broad.mit.edu	37	19	37677052	37677052	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr19:37677052C>T	ENST00000532828.2	-	5	1638	c.1387G>A	c.(1387-1389)Gaa>Aaa	p.E463K	ZNF585B_ENST00000527838.1_3'UTR|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_Missense_Mutation_p.E51K|ZNF585B_ENST00000531805.1_Missense_Mutation_p.E408K	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	463					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAGGGCTTTTCTCCTGTGTGA	0.368																																					Melanoma(93;882 1454 18863 28917 48427)	uc002ofq.2		NA																	0				ovary(1)	1						c.(1387-1389)GAA>AAA		zinc finger protein 585B							119.0	119.0	119.0					19																	37677052		2203	4300	6503	SO:0001583	missense	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37677052C>T	AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.1387G>A	19.37:g.37677052C>T	ENSP00000433773:p.Glu463Lys					uc002ofp.1_5'Flank|ZNF585B_uc002ofr.1_Missense_Mutation_p.E277K	p.E463K	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1641	-			463					Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	c.1387G>A	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563087	0.45694	.	.	ENSG00000245680	ENST00000531805;ENST00000532828;ENST00000312908	T;T;T	0.24350	1.86;1.86;1.86	2.35	2.35	0.29111	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38436	N	0.001699	T	0.36220	0.0959	L	0.43598	1.365	0.38084	D	0.936767	D;D	0.89917	1.0;0.983	D;P	0.85130	0.997;0.82	T	0.25082	-1.0142	10	0.59425	D	0.04	.	6.4383	0.21835	0.0:0.8469:0.0:0.1531	.	408;463	E9PQH3;Q52M93	.;Z585B_HUMAN	K	408;463;51	ENSP00000436774:E408K;ENSP00000433773:E463K;ENSP00000442139:E51K	ENSP00000442139:E51K	E	-	1	0	ZNF585B	42368892	0.995000	0.38212	0.966000	0.40874	0.371000	0.29859	3.403000	0.52615	1.293000	0.44690	0.305000	0.20034	GAA		0.368	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		17	296	0	0	0	0	17	296				
ZNF383	163087	broad.mit.edu	37	19	37726884	37726884	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr19:37726884T>G	ENST00000589413.1	+	7	723	c.140T>G	c.(139-141)cTt>cGt	p.L47R	ZNF383_ENST00000352998.3_Missense_Mutation_p.L47R|ZNF383_ENST00000590503.1_Missense_Mutation_p.L47R			Q8NA42	ZN383_HUMAN	zinc finger protein 383	47	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGAGCAGGACTTTACACTCCT	0.483																																						uc002oft.1		NA																	0				ovary(1)|skin(1)	2						c.(139-141)CTT>CGT		zinc finger protein 383							117.0	109.0	112.0					19																	37726884		2203	4300	6503	SO:0001583	missense	163087				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr19:37726884T>G	AY438646	CCDS12501.1	19q13.13	2013-01-08				ENSG00000188283		"""Zinc fingers, C2H2-type"", ""-"""	18609	protein-coding gene	gene with protein product							Standard	NM_152604		Approved	FLJ35863	uc002ofu.1	Q8NA42		ENST00000589413.1:c.140T>G	19.37:g.37726884T>G	ENSP00000464871:p.Leu47Arg					ZNF383_uc002ofs.1_5'UTR|ZNF383_uc002ofu.1_Missense_Mutation_p.L47R	p.L47R	NM_152604	NP_689817	Q8NA42	ZN383_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		7	720	+			47			KRAB.		Q6X2C7	Missense_Mutation	SNP	ENST00000589413.1	37	c.140T>G	CCDS12501.1	.	.	.	.	.	.	.	.	.	.	T	8.127	0.782189	0.16189	.	.	ENSG00000188283	ENST00000352998	T	0.00902	5.56	3.39	2.37	0.29283	Krueppel-associated box (3);	1.004860	0.08030	N	0.993431	T	0.02193	0.0068	M	0.78456	2.415	0.25152	N	0.990411	B	0.31009	0.303	B	0.37091	0.241	T	0.42068	-0.9473	9	.	.	.	.	6.89	0.24224	0.0:0.1168:0.0:0.8832	.	47	Q8NA42	ZN383_HUMAN	R	47	ENSP00000340132:L47R	.	L	+	2	0	ZNF383	42418724	0.001000	0.12720	0.877000	0.34402	0.170000	0.22686	0.444000	0.21661	0.675000	0.31264	0.460000	0.39030	CTT		0.483	ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458141.1	NM_152604		9	153	0	0	0	0	9	153				
SLC17A7	57030	broad.mit.edu	37	19	49933917	49933917	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr19:49933917G>A	ENST00000221485.3	-	12	1713	c.1542C>T	c.(1540-1542)gaC>gaT	p.D514D	SLC17A7_ENST00000543531.1_Silent_p.D502D|SLC17A7_ENST00000600601.1_Silent_p.D447D	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	514					glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CAGCCAGCTGGTCATGGCCAA	0.627																																						uc002pnp.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1540-1542)GAC>GAT		solute carrier family 17, member 7							56.0	47.0	50.0					19																	49933917		2203	4299	6502	SO:0001819	synonymous_variant	57030				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity	g.chr19:49933917G>A	AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"""Solute carriers"""	16704	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 1"""	605208	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"""			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.1542C>T	19.37:g.49933917G>A						SLC17A7_uc002pno.2_Silent_p.D176D	p.D514D	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)	12	1714	-		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	514			Cytoplasmic (Potential).		B4DFR9|B4DG46|Q6PCD0	Silent	SNP	ENST00000221485.3	37	c.1542C>T	CCDS12764.1																																																																																				0.627	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465367.2			11	47	0	0	0	0	11	47				
PXDN	7837	broad.mit.edu	37	2	1653341	1653341	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:1653341G>A	ENST00000252804.4	-	17	2261	c.2211C>T	c.(2209-2211)ttC>ttT	p.F737F		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	737					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.F737L(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ACTTCTGGTGGAAGCACATGT	0.612																																						uc002qxa.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(6)|ovary(2)	8						c.(2209-2211)TTC>TTT		peroxidasin precursor							105.0	112.0	109.0					2																	1653341		2073	4201	6274	SO:0001819	synonymous_variant	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1653341G>A	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2211C>T	2.37:g.1653341G>A							p.F737F	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	2275	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	737					A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	c.2211C>T	CCDS46221.1																																																																																				0.612	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		24	87	0	0	0	0	24	87				
PXDN	7837	broad.mit.edu	37	2	1664729	1664729	+	Silent	SNP	T	T	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:1664729T>C	ENST00000252804.4	-	14	1811	c.1761A>G	c.(1759-1761)gcA>gcG	p.A587A		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	587	Ig-like C2-type 4.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GACCTGCGTCTGCAGGGCCAA	0.522																																						uc002qxa.2		NA																	0				pancreas(6)|ovary(2)	8						c.(1759-1761)GCA>GCG		peroxidasin precursor							96.0	101.0	99.0					2																	1664729		2036	4181	6217	SO:0001819	synonymous_variant	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1664729T>C	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.1761A>G	2.37:g.1664729T>C						PXDN_uc002qxb.1_Silent_p.A587A	p.A587A	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	14	1825	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	587			Ig-like C2-type 4.		A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	c.1761A>G	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	T	0.621	-0.821111	0.02755	.	.	ENSG00000130508	ENST00000433670	.	.	.	5.05	-9.78	0.00496	.	.	.	.	.	T	0.32852	0.0843	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42275	-0.9461	4	.	.	.	-30.8651	2.4367	0.04485	0.2024:0.0877:0.2831:0.4268	.	.	.	.	R	583	.	.	Q	-	2	0	PXDN	1643736	0.000000	0.05858	0.013000	0.15412	0.008000	0.06430	-2.237000	0.01200	-1.377000	0.02123	-1.223000	0.01593	CAG		0.522	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		10	32	0	0	0	0	10	32				
APOB	338	broad.mit.edu	37	2	21231328	21231328	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:21231328G>A	ENST00000233242.1	-	26	8539	c.8412C>T	c.(8410-8412)ctC>ctT	p.L2804L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2804					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATCAAAATTGAGAACTTCTA	0.448																																						uc002red.2		NA																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(8410-8412)CTC>CTT		apolipoprotein B precursor	Atorvastatin(DB01076)						102.0	104.0	103.0					2																	21231328		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21231328G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8412C>T	2.37:g.21231328G>A							p.L2804L	NM_000384	NP_000375	P04114	APOB_HUMAN			26	8540	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2804					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.8412C>T	CCDS1703.1																																																																																				0.448	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			30	114	0	0	0	0	30	114				
CCDC121	79635	broad.mit.edu	37	2	27850176	27850176	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:27850176A>G	ENST00000324364.3	-	2	671	c.491T>C	c.(490-492)cTa>cCa	p.L164P	GPN1_ENST00000458167.2_5'Flank|GPN1_ENST00000407583.3_5'Flank|GPN1_ENST00000264718.3_5'Flank|ZNF512_ENST00000556601.1_Intron|GPN1_ENST00000515877.1_5'Flank|GPN1_ENST00000503738.1_5'Flank|GPN1_ENST00000610189.1_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|GPN1_ENST00000424214.1_5'Flank|CCDC121_ENST00000394775.3_Missense_Mutation_p.L326P	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121	164										breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(172;0.155)					CTTTCCCAGTAGCCTCCTGTC	0.483																																						uc002rle.2		NA																	0					0						c.(490-492)CTA>CCA		coiled-coil domain containing 121 isoform 3							78.0	80.0	79.0					2																	27850176		2203	4300	6503	SO:0001583	missense	79635							g.chr2:27850176A>G	AK125354	CCDS1759.1, CCDS46247.1	2p23.2	2008-02-05			ENSG00000176714	ENSG00000176714			25833	protein-coding gene	gene with protein product							Standard	NM_024584		Approved	FLJ43364, FLJ13646	uc002rld.3	Q6ZUS5	OTTHUMG00000128427	ENST00000324364.3:c.491T>C	2.37:g.27850176A>G	ENSP00000339087:p.Leu164Pro					ZNF512_uc010yly.1_Intron|CCDC121_uc010eze.2_Missense_Mutation_p.L328P|CCDC121_uc002rld.2_Missense_Mutation_p.L326P|GPN1_uc010ezf.2_5'Flank|GPN1_uc010yma.1_5'Flank|GPN1_uc010ymb.1_5'Flank|GPN1_uc010ymc.1_5'Flank|GPN1_uc010ymd.1_5'Flank|GPN1_uc010yme.1_5'Flank|GPN1_uc010ezg.1_5'Flank	p.L164P	NM_024584	NP_078860	Q6ZUS5	CC121_HUMAN			2	672	-	Acute lymphoblastic leukemia(172;0.155)		164			Potential.		B3KW66|J3KQZ8|Q9H8G6	Missense_Mutation	SNP	ENST00000324364.3	37	c.491T>C	CCDS1759.1	.	.	.	.	.	.	.	.	.	.	A	11.46	1.644056	0.29246	.	.	ENSG00000176714	ENST00000324364;ENST00000394775	T;T	0.30448	1.53;1.53	4.83	-4.74	0.03249	.	1.636380	0.03244	N	0.180890	T	0.21674	0.0522	L	0.29908	0.895	0.09310	N	0.999999	P	0.43094	0.799	B	0.41764	0.366	T	0.29518	-1.0009	10	0.46703	T	0.11	-17.6796	4.8738	0.13646	0.5949:0.1838:0.0:0.2213	.	164	Q6ZUS5	CC121_HUMAN	P	164;326	ENSP00000339087:L164P;ENSP00000412150:L326P	ENSP00000339087:L164P	L	-	2	0	CCDC121	27703680	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.072000	0.11486	-0.554000	0.06150	-0.649000	0.03915	CTA		0.483	CCDC121-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250215.1	NM_024584		24	84	0	0	0	0	24	84				
C2orf42	54980	broad.mit.edu	37	2	70408542	70408542	+	Silent	SNP	T	T	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:70408542T>C	ENST00000264434.2	-	3	955	c.576A>G	c.(574-576)aaA>aaG	p.K192K	C2orf42_ENST00000470096.1_5'Flank|C2orf42_ENST00000420306.1_Silent_p.K192K	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	192										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						TTGCCTTGCATTTCACCACCA	0.512																																						uc002sgh.2		NA																	0					0						c.(574-576)AAA>AAG		hypothetical protein LOC54980							115.0	111.0	112.0					2																	70408542		2203	4300	6503	SO:0001819	synonymous_variant	54980							g.chr2:70408542T>C	AK000565	CCDS1899.1	2p14	2011-03-08			ENSG00000115998	ENSG00000115998			26056	protein-coding gene	gene with protein product						12477932	Standard	XM_005264389		Approved	FLJ20558	uc002sgh.3	Q9NWW7	OTTHUMG00000129642	ENST00000264434.2:c.576A>G	2.37:g.70408542T>C							p.K192K	NM_017880	NP_060350	Q9NWW7	CB042_HUMAN			3	904	-			192					D6W5G3|Q9H629	Silent	SNP	ENST00000264434.2	37	c.576A>G	CCDS1899.1																																																																																				0.512	C2orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251840.1	NM_017880		14	102	0	0	0	0	14	102				
TSGA10	80705	broad.mit.edu	37	2	99720536	99720536	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:99720536T>C	ENST00000393483.3	-	10	1349	c.505A>G	c.(505-507)Aag>Gag	p.K169E	TSGA10_ENST00000410001.1_Missense_Mutation_p.K169E|TSGA10_ENST00000355053.4_Missense_Mutation_p.K169E|TSGA10_ENST00000539964.1_Missense_Mutation_p.K169E|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000542655.1_Missense_Mutation_p.K169E	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	169					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						ATGGTTTCCTTCATCAAAGTC	0.363																																						uc002szg.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(505-507)AAG>GAG		testis specific, 10							228.0	198.0	208.0					2																	99720536		2203	4300	6503	SO:0001583	missense	80705				spermatogenesis	cytoplasm|nuclear membrane		g.chr2:99720536T>C	AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.505A>G	2.37:g.99720536T>C	ENSP00000377123:p.Lys169Glu					TSGA10_uc002szh.3_Missense_Mutation_p.K169E|TSGA10_uc002szi.3_Missense_Mutation_p.K169E|TSGA10_uc010fin.1_Missense_Mutation_p.K169E|TSGA10_uc010yvn.1_Missense_Mutation_p.K169E	p.K169E	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN			8	1133	-			169					B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	ENST00000393483.3	37	c.505A>G	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.348301	0.82132	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482;ENST00000542655	T;T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64;0.64	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000012	T	0.64811	0.2632	M	0.72353	2.195	0.42783	D	0.993873	D;D	0.56035	0.974;0.974	D;D	0.67725	0.953;0.953	T	0.63791	-0.6557	10	0.33141	T	0.24	-21.5282	13.4119	0.60948	0.0:0.0:0.0:1.0	.	169;169	B7Z925;Q9BZW7	.;TSG10_HUMAN	E	169	ENSP00000377123:K169E;ENSP00000386956:K169E;ENSP00000347161:K169E;ENSP00000444419:K169E;ENSP00000386508:K169E;ENSP00000377122:K169E;ENSP00000445623:K169E	ENSP00000347161:K169E	K	-	1	0	TSGA10	99086968	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.410000	0.66381	2.260000	0.74910	0.529000	0.55759	AAG		0.363	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911		22	55	0	0	0	0	22	55				
IL18RAP	8807	broad.mit.edu	37	2	103068292	103068292	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:103068292A>G	ENST00000264260.2	+	12	2040	c.1451A>G	c.(1450-1452)aAc>aGc	p.N484S	IL18RAP_ENST00000409369.1_Missense_Mutation_p.N342S	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	484	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TTGAGCCCCAACTATGTCAAT	0.353																																						uc002tbx.2		NA																	0				skin(3)|ovary(2)	5						c.(1450-1452)AAC>AGC		interleukin 18 receptor accessory protein							133.0	136.0	135.0					2																	103068292		2203	4300	6503	SO:0001583	missense	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103068292A>G	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1451A>G	2.37:g.103068292A>G	ENSP00000264260:p.Asn484Ser					IL18RAP_uc010fiz.2_Missense_Mutation_p.N342S	p.N484S	NM_003853	NP_003844	O95256	I18RA_HUMAN			12	1935	+			484			TIR.|Cytoplasmic (Potential).		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	c.1451A>G	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	A	9.836	1.189840	0.21954	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.02974	4.09;4.09	6.02	-6.03	0.02185	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.793072	0.11993	N	0.509599	T	0.02304	0.0071	L	0.39085	1.19	0.20074	N	0.999934	B	0.14438	0.01	B	0.21151	0.033	T	0.47058	-0.9146	10	0.11794	T	0.64	.	11.9545	0.52974	0.2386:0.1926:0.5687:0.0	.	484	O95256	I18RA_HUMAN	S	484;342	ENSP00000264260:N484S;ENSP00000387201:N342S	ENSP00000264260:N484S	N	+	2	0	IL18RAP	102434724	0.000000	0.05858	0.275000	0.24674	0.664000	0.39144	-0.169000	0.09911	-1.067000	0.03160	0.528000	0.53228	AAC		0.353	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		12	86	0	0	0	0	12	86				
CLASP1	23332	broad.mit.edu	37	2	122155929	122155929	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:122155929A>G	ENST00000263710.4	-	29	3337	c.2948T>C	c.(2947-2949)aTt>aCt	p.I983T	CLASP1_ENST00000455322.2_Missense_Mutation_p.I978T|CLASP1_ENST00000545861.1_Missense_Mutation_p.I729T|CLASP1_ENST00000397587.3_Missense_Mutation_p.I962T|CLASP1_ENST00000541377.1_Missense_Mutation_p.I961T|CLASP1_ENST00000409078.3_Missense_Mutation_p.I955T|CLASP1_ENST00000541859.1_Missense_Mutation_p.I739T	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	983					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TTGATCCACAATAAATCTCAT	0.299																																						uc002tnc.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2947-2949)ATT>ACT		CLIP-associating protein 1 isoform 1							85.0	79.0	81.0					2																	122155929		1812	4078	5890	SO:0001583	missense	23332				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	g.chr2:122155929A>G	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.2948T>C	2.37:g.122155929A>G	ENSP00000263710:p.Ile983Thr					CLASP1_uc010yyv.1_Missense_Mutation_p.I68T|CLASP1_uc002tmz.2_Missense_Mutation_p.I68T|CLASP1_uc002tna.2_Missense_Mutation_p.I68T|CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Missense_Mutation_p.I963T|CLASP1_uc010yza.1_Missense_Mutation_p.I955T|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA	p.I983T	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN			28	3338	-	Renal(3;0.0496)		983			HEAT 5.		B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	37	c.2948T>C		.	.	.	.	.	.	.	.	.	.	A	11.23	1.578266	0.28180	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35	5.91	3.54	0.40534	Armadillo-like helical (1);Armadillo-type fold (1);	0.046694	0.85682	D	0.000000	T	0.49508	0.1561	N	0.24115	0.695	0.58432	D	0.999992	P;P;P	0.43094	0.651;0.799;0.745	B;B;B	0.42522	0.122;0.39;0.298	T	0.30880	-0.9963	10	0.14252	T	0.57	-10.3428	9.0234	0.36213	0.8567:0.0:0.1433:0.0	.	955;962;983	E7EUA5;F5GWS0;Q7Z460	.;.;CLAP1_HUMAN	T	983;978;962;961;739;955;729	ENSP00000263710:I983T;ENSP00000389372:I978T;ENSP00000380717:I962T;ENSP00000441625:I961T;ENSP00000441770:I739T;ENSP00000386442:I955T;ENSP00000438620:I729T	ENSP00000263710:I983T	I	-	2	0	CLASP1	121872399	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.183000	0.77697	0.491000	0.27793	0.533000	0.62120	ATT		0.299	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282		3	3	0	0	0	0	3	3				
LCT	3938	broad.mit.edu	37	2	136566291	136566291	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:136566291T>G	ENST00000264162.2	-	8	3636	c.3626A>C	c.(3625-3627)tAc>tCc	p.Y1209S	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1209	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	TCTGGAGTAGTACGTGTTGAG	0.577																																						uc002tuu.1		NA																	0				ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13						c.(3625-3627)TAC>TCC		lactase-phlorizin hydrolase preproprotein							208.0	177.0	188.0					2																	136566291		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136566291T>G	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.3626A>C	2.37:g.136566291T>G	ENSP00000264162:p.Tyr1209Ser						p.Y1209S	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	8	3637	-			1209			3.|Extracellular (Potential).|4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.3626A>C	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	T	16.54	3.152006	0.57151	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.76709	-1.04	5.76	5.76	0.90799	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.052190	0.85682	D	0.000000	D	0.93044	0.7786	H	0.98849	4.35	0.58432	D	0.999999	D	0.69078	0.997	D	0.73708	0.981	D	0.95780	0.8816	10	0.87932	D	0	-17.2433	16.0677	0.80897	0.0:0.0:0.0:1.0	.	1209	P09848	LPH_HUMAN	S	1209;641	ENSP00000264162:Y1209S	ENSP00000264162:Y1209S	Y	-	2	0	LCT	136282761	1.000000	0.71417	0.889000	0.34880	0.334000	0.28698	8.040000	0.89188	2.185000	0.69588	0.460000	0.39030	TAC		0.577	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		45	96	0	0	0	0	45	96				
LRP1B	53353	broad.mit.edu	37	2	141533735	141533735	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:141533735G>T	ENST00000389484.3	-	33	6403	c.5432C>A	c.(5431-5433)cCc>cAc	p.P1811H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1811					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TAGGATGGTGGGGTTTCTTCC	0.408										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(5431-5433)CCC>CAC		low density lipoprotein-related protein 1B							133.0	129.0	130.0					2																	141533735		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141533735G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5432C>A	2.37:g.141533735G>T	ENSP00000374135:p.Pro1811His	TSP Lung(27;0.18)					p.P1811H	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	33	6404	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1811			Extracellular (Potential).|LDL-receptor class B 18.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.5432C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.134441	0.37630	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91068	-2.78	5.69	4.81	0.61882	Six-bladed beta-propeller, TolB-like (1);	0.231260	0.36167	N	0.002755	D	0.89125	0.6626	L	0.37697	1.125	0.36225	D	0.852247	D	0.63880	0.993	P	0.49999	0.628	D	0.91222	0.5007	10	0.45353	T	0.12	.	14.5661	0.68176	0.0702:0.0:0.9298:0.0	.	1811	Q9NZR2	LRP1B_HUMAN	H	1811;1749	ENSP00000374135:P1811H	ENSP00000374135:P1811H	P	-	2	0	LRP1B	141250205	1.000000	0.71417	0.962000	0.40283	0.328000	0.28507	3.105000	0.50314	1.416000	0.47057	0.591000	0.81541	CCC		0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		14	31	1	0	3.27e-08	3.65e-08	14	31				
FMNL2	114793	broad.mit.edu	37	2	153471451	153471451	+	Silent	SNP	A	A	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:153471451A>G	ENST00000288670.9	+	12	1516	c.1149A>G	c.(1147-1149)gaA>gaG	p.E383E		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	383	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CTCTACTGGAAGATGCTGAAA	0.398																																						uc002tye.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(1147-1149)GAA>GAG		formin-like 2							103.0	104.0	104.0					2																	153471451		1975	4176	6151	SO:0001819	synonymous_variant	114793				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding	g.chr2:153471451A>G	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"""formin homology 2 domain containing 2"""	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.1149A>G	2.37:g.153471451A>G							p.E383E	NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN			12	1516	+			383			GBD/FH3.		B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Silent	SNP	ENST00000288670.9	37	c.1149A>G	CCDS46429.1																																																																																				0.398	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333582.2	NM_052905		13	40	0	0	0	0	13	40				
BAZ2B	29994	broad.mit.edu	37	2	160204060	160204060	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:160204060C>G	ENST00000392783.2	-	31	5886	c.5391G>C	c.(5389-5391)ttG>ttC	p.L1797F	BAZ2B_ENST00000343439.5_Missense_Mutation_p.L1697F|BAZ2B_ENST00000355831.2_Missense_Mutation_p.L1763F|BAZ2B_ENST00000392782.1_Missense_Mutation_p.L1761F	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1797					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GAAGGACACTCAAATCCATTT	0.353																																						uc002uao.2		NA																	0				ovary(3)|skin(1)	4						c.(5389-5391)TTG>TTC		bromodomain adjacent to zinc finger domain, 2B							176.0	160.0	165.0					2																	160204060		1875	4113	5988	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160204060C>G	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.5391G>C	2.37:g.160204060C>G	ENSP00000376534:p.Leu1797Phe					BAZ2B_uc002uap.2_Missense_Mutation_p.L1761F	p.L1797F	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN			31	5743	-			1797					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.5391G>C	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	10.34	1.324002	0.24080	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000426648	T;T;T;T	0.61742	0.16;0.14;0.16;0.08	5.65	3.85	0.44370	.	0.000000	0.29932	U	0.010839	T	0.59514	0.2199	L	0.52905	1.665	0.44168	D	0.996971	P;D	0.57899	0.928;0.981	P;P	0.52514	0.55;0.701	T	0.60485	-0.7254	10	0.72032	D	0.01	-1.0806	7.4986	0.27505	0.1645:0.6884:0.0:0.1471	.	1761;1797	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	F	1761;1797;1763;1697;15	ENSP00000376533:L1761F;ENSP00000376534:L1797F;ENSP00000348087:L1763F;ENSP00000339670:L1697F	ENSP00000339670:L1697F	L	-	3	2	BAZ2B	159912306	0.995000	0.38212	0.867000	0.34043	0.977000	0.68977	0.999000	0.29757	0.853000	0.35312	-0.251000	0.11542	TTG		0.353	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			3	56	0	0	0	0	3	56				
COBLL1	22837	broad.mit.edu	37	2	165557131	165557131	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:165557131G>C	ENST00000392717.2	-	11	1596	c.1592C>G	c.(1591-1593)aCa>aGa	p.T531R	COBLL1_ENST00000491126.2_5'UTR|COBLL1_ENST00000194871.6_Missense_Mutation_p.T559R|COBLL1_ENST00000342193.4_Missense_Mutation_p.T493R|COBLL1_ENST00000409184.3_Missense_Mutation_p.T492R|COBLL1_ENST00000375458.2_Missense_Mutation_p.T454R			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	531						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						ATTTTTCAGTGTATTTATTAT	0.373																																						uc010zcw.1		NA																	0				ovary(2)|pancreas(1)	3						c.(1675-1677)ACA>AGA		COBL-like 1							140.0	138.0	139.0					2																	165557131		2203	4300	6503	SO:0001583	missense	22837							g.chr2:165557131G>C	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.1592C>G	2.37:g.165557131G>C	ENSP00000376478:p.Thr531Arg					COBLL1_uc002ucp.2_Missense_Mutation_p.T493R|COBLL1_uc002ucq.2_Missense_Mutation_p.T454R|COBLL1_uc010zcx.1_Missense_Mutation_p.T500R|COBLL1_uc002ucs.1_RNA|COBLL1_uc002ucn.2_5'Flank|COBLL1_uc002uco.2_Missense_Mutation_p.T223R	p.T559R	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN			13	1800	-			531					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37	c.1676C>G		.	.	.	.	.	.	.	.	.	.	G	9.337	1.061923	0.19987	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	5.42	1.41	0.22369	.	0.745880	0.12767	N	0.440876	T	0.40398	0.1115	L	0.34521	1.04	0.09310	N	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.69654	0.951;0.965;0.965	T	0.15037	-1.0451	9	0.54805	T	0.06	-0.0178	3.4494	0.07493	0.2172:0.1214:0.5493:0.112	.	531;559;492	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	R	454;493;492;531;559	.	ENSP00000194871:T559R	T	-	2	0	COBLL1	165265377	0.019000	0.18553	0.000000	0.03702	0.000000	0.00434	0.784000	0.26816	0.369000	0.24510	-0.793000	0.03317	ACA		0.373	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		12	87	0	0	0	0	12	87				
TTN	7273	broad.mit.edu	37	2	179433970	179433970	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:179433970C>T	ENST00000591111.1	-	276	72190	c.71966G>A	c.(71965-71967)gGa>gAa	p.G23989E	TTN_ENST00000359218.5_Missense_Mutation_p.G16690E|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G16565E|TTN_ENST00000589042.1_Missense_Mutation_p.G25630E|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G23062E|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G16757E|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23989	Fibronectin type-III 74. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			TATTTTGGATCCCCCATCCAA	0.393																																						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.(69184-69186)GGA>GAA		titin isoform N2-A							195.0	196.0	195.0					2																	179433970		1860	4089	5949	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179433970C>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.71966G>A	2.37:g.179433970C>T	ENSP00000465570:p.Gly23989Glu					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G16757E|TTN_uc010zfi.1_Missense_Mutation_p.G16690E|TTN_uc010zfj.1_Missense_Mutation_p.G16565E	p.G23062E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	69409	-			23989					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.69185G>A		.	.	.	.	.	.	.	.	.	.	C	14.33	2.503371	0.44558	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.61274	0.12;0.12;0.12;0.12	5.93	5.93	0.95920	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84986	0.5594	H	0.96015	3.755	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;1.0;1.0;0.999	D	0.88781	0.3271	9	0.87932	D	0	.	20.3311	0.98718	0.0:1.0:0.0:0.0	.	16565;16690;16757;23989	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	23062;16565;16757;16690;16563	ENSP00000343764:G23062E;ENSP00000434586:G16565E;ENSP00000340554:G16757E;ENSP00000352154:G16690E	ENSP00000340554:G16757E	G	-	2	0	TTN	179142216	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.803000	0.96430	0.650000	0.86243	GGA		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		20	416	0	0	0	0	20	416				
TTN	7273	broad.mit.edu	37	2	179457754	179457754	+	Missense_Mutation	SNP	C	C	T	rs397517642		TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:179457754C>T	ENST00000591111.1	-	250	54393	c.54169G>A	c.(54169-54171)Gat>Aat	p.D18057N	TTN_ENST00000359218.5_Missense_Mutation_p.D10758N|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D10633N|TTN_ENST00000589042.1_Missense_Mutation_p.D19698N|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D17130N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D10825N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18057	Fibronectin type-III 31. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			CAAGTTAGATCGACTGAATTG	0.393																																						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.(51388-51390)GAT>AAT		titin isoform N2-A							131.0	126.0	128.0					2																	179457754		1909	4138	6047	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179457754C>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.54169G>A	2.37:g.179457754C>T	ENSP00000465570:p.Asp18057Asn					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D10825N|TTN_uc010zfi.1_Missense_Mutation_p.D10758N|TTN_uc010zfj.1_Missense_Mutation_p.D10633N	p.D17130N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		249	51612	-			18057					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.51388G>A		.	.	.	.	.	.	.	.	.	.	C	13.72	2.322586	0.41096	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	6.16	6.16	0.99307	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.36468	0.0968	N	0.05383	-0.06	0.33284	D	0.562618	B;B;P;B	0.40794	0.426;0.426;0.729;0.426	B;B;B;B	0.33750	0.169;0.169;0.169;0.126	T	0.53739	-0.8396	9	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	10633;10758;10825;18057	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	17130;10633;10825;10758;10631	ENSP00000343764:D17130N;ENSP00000434586:D10633N;ENSP00000340554:D10825N;ENSP00000352154:D10758N	ENSP00000340554:D10825N	D	-	1	0	TTN	179166000	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.656000	0.54467	2.937000	0.99478	0.650000	0.86243	GAT		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	216	0	0	0	0	7	216				
TTN	7273	broad.mit.edu	37	2	179640277	179640277	+	Missense_Mutation	SNP	G	G	A	rs547169244		TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:179640277G>A	ENST00000591111.1	-	28	6538	c.6314C>T	c.(6313-6315)cCa>cTa	p.P2105L	TTN_ENST00000359218.5_Missense_Mutation_p.P2059L|TTN_ENST00000460472.2_Missense_Mutation_p.P2059L|TTN_ENST00000589042.1_Missense_Mutation_p.P2105L|TTN_ENST00000342992.6_Missense_Mutation_p.P2105L|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.P2105L|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P2059L|TTN-AS1_ENST00000585451.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA			Q8WZ42	TITIN_HUMAN	titin	12794	Ig-like 10.				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)			TTCGGGGTCTGGTTTCCCCAC	0.478																																						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.(6313-6315)CCA>CTA		titin isoform N2-A							77.0	82.0	80.0					2																	179640277		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179640277G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.6314C>T	2.37:g.179640277G>A	ENSP00000465570:p.Pro2105Leu					TTN_uc010zfh.1_Missense_Mutation_p.P2059L|TTN_uc010zfi.1_Missense_Mutation_p.P2059L|TTN_uc010zfj.1_Missense_Mutation_p.P2059L|TTN_uc002unb.2_Missense_Mutation_p.P2105L|uc002unc.1_5'Flank	p.P2105L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	6538	-			2105					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.6314C>T		.	.	.	.	.	.	.	.	.	.	G	13.62	2.291850	0.40594	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85	5.33	5.33	0.75918	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.90800	0.7111	H	0.95574	3.69	0.58432	D	0.999995	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;1.0	D	0.93377	0.6740	9	0.87932	D	0	.	19.0299	0.92952	0.0:0.0:1.0:0.0	.	2059;2059;2059;2105;2105	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	L	2105;2059;2059;2059;2059;2105	ENSP00000343764:P2105L;ENSP00000434586:P2059L;ENSP00000340554:P2059L;ENSP00000352154:P2059L;ENSP00000354117:P2105L	ENSP00000340554:P2059L	P	-	2	0	TTN	179348522	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.835000	0.99442	2.503000	0.84419	0.655000	0.94253	CCA		0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	96	0	0	0	0	5	96				
DNAJC10	54431	broad.mit.edu	37	2	183616441	183616441	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:183616441G>A	ENST00000264065.7	+	15	1778	c.1363G>A	c.(1363-1365)Gtt>Att	p.V455I		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	455	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.|Trxb 2.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GAATTCTCATGTTACCACGCT	0.353																																					Pancreas(56;860 1183 25669 35822 48585)	uc002uow.1		NA																	0				ovary(1)|large_intestine(1)|breast(1)|skin(1)	4						c.(1363-1365)GTT>ATT		DnaJ (Hsp40) homolog, subfamily C, member 10							164.0	167.0	166.0					2																	183616441		2203	4300	6503	SO:0001583	missense	54431				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding	g.chr2:183616441G>A		CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"""Heat shock proteins / DNAJ (HSP40)"", ""Protein disulfide isomerases"""	24637	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 19"""	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.1363G>A	2.37:g.183616441G>A	ENSP00000264065:p.Val455Ile					DNAJC10_uc002uox.1_RNA|DNAJC10_uc002uoy.1_RNA|DNAJC10_uc002uoz.1_Missense_Mutation_p.V409I|DNAJC10_uc010fro.1_RNA	p.V455I	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		15	1778	+			455			Thioredoxin 2.		Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Missense_Mutation	SNP	ENST00000264065.7	37	c.1363G>A	CCDS33345.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977618	0.92982	.	.	ENSG00000077232	ENST00000264065;ENST00000392392	T	0.47528	0.84	6.03	6.03	0.97812	Thioredoxin-like fold (4);	0.000000	0.85682	D	0.000000	T	0.70500	0.3231	M	0.76838	2.35	0.80722	D	1	P;D	0.69078	0.947;0.997	P;D	0.65573	0.58;0.936	T	0.68606	-0.5364	10	0.46703	T	0.11	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	409;455	Q8IXB1-2;Q8IXB1	.;DJC10_HUMAN	I	455;409	ENSP00000264065:V455I	ENSP00000264065:V455I	V	+	1	0	DNAJC10	183324686	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.020000	0.93667	2.854000	0.98071	0.655000	0.94253	GTT		0.353	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981		20	276	0	0	0	0	20	276				
NCKAP1	10787	broad.mit.edu	37	2	183845983	183845983	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:183845983C>G	ENST00000361354.4	-	13	1702	c.1330G>C	c.(1330-1332)Gaa>Caa	p.E444Q	NCKAP1_ENST00000360982.2_Missense_Mutation_p.E450Q	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	444					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TGCACGAGTTCATTGAGGACA	0.383																																						uc002upc.2		NA																	0				ovary(2)	2						c.(1330-1332)GAA>CAA		NCK-associated protein 1 isoform 1							170.0	150.0	157.0					2																	183845983		2203	4300	6503	SO:0001583	missense	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183845983C>G	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.1330G>C	2.37:g.183845983C>G	ENSP00000355348:p.Glu444Gln					NCKAP1_uc002upb.2_Missense_Mutation_p.E450Q	p.E444Q	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		13	1732	-			444					O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	c.1330G>C	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041195	0.55003	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.31769	1.48;1.48	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.34629	0.0904	N	0.05574	-0.02	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74023	0.982;0.969	T	0.31861	-0.9928	10	0.21014	T	0.42	-13.6286	18.2679	0.90057	0.0:1.0:0.0:0.0	.	444;450	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	Q	444;450	ENSP00000355348:E444Q;ENSP00000354251:E450Q	ENSP00000354251:E450Q	E	-	1	0	NCKAP1	183554228	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.684000	0.84104	2.392000	0.81423	0.555000	0.69702	GAA		0.383	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		5	110	0	0	0	0	5	110				
NCKAP1	10787	broad.mit.edu	37	2	183866755	183866755	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:183866755G>C	ENST00000361354.4	-	6	901	c.529C>G	c.(529-531)Cgc>Ggc	p.R177G	NCKAP1_ENST00000360982.2_Missense_Mutation_p.R183G	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	177					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TGGCCAAGGCGTGGGTATTCT	0.363																																						uc002upc.2		NA																	0				ovary(2)	2						c.(529-531)CGC>GGC		NCK-associated protein 1 isoform 1							147.0	146.0	147.0					2																	183866755		2203	4300	6503	SO:0001583	missense	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183866755G>C	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.529C>G	2.37:g.183866755G>C	ENSP00000355348:p.Arg177Gly					NCKAP1_uc002upb.2_Missense_Mutation_p.R183G	p.R177G	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		6	931	-			177					O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	c.529C>G	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.541400	0.65085	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.57436	0.4;0.4	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.77955	0.4208	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.81577	-0.0869	10	0.87932	D	0	-6.8641	19.4491	0.94860	0.0:0.0:1.0:0.0	.	177;183	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	G	177;183	ENSP00000355348:R177G;ENSP00000354251:R183G	ENSP00000354251:R183G	R	-	1	0	NCKAP1	183575000	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.630000	0.61297	2.603000	0.88011	0.650000	0.86243	CGC		0.363	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		6	108	0	0	0	0	6	108				
ZNF142	7701	broad.mit.edu	37	2	219507041	219507041	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:219507041G>C	ENST00000449707.1	-	8	4619	c.4198C>G	c.(4198-4200)Ctg>Gtg	p.L1400V	ZNF142_ENST00000411696.2_Missense_Mutation_p.L1400V	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1400					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGCTGTTCCAGGTAGTGCTTT	0.612																																					Colon(170;867 1942 8995 15834 18053)	uc002vin.2		NA																	0				breast(2)|ovary(1)|skin(1)	4						c.(4198-4200)CTG>GTG		zinc finger protein 142							61.0	69.0	66.0					2																	219507041		2123	4241	6364	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219507041G>C	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.4198C>G	2.37:g.219507041G>C	ENSP00000408643:p.Leu1400Val					ZNF142_uc002vil.2_Missense_Mutation_p.L1361V|ZNF142_uc010fvt.2_Missense_Mutation_p.L1237V|ZNF142_uc002vim.2_Missense_Mutation_p.L1237V	p.L1400V	NM_001105537	NP_001099007	P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	8	4634	-		Renal(207;0.0474)	1400			C2H2-type 23.		Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.4198C>G	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	g	13.33	2.203576	0.38905	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.12361	2.69;2.69	5.62	2.73	0.32206	Zinc finger, C2H2-like (1);	0.211384	0.41712	D	0.000829	T	0.12944	0.0314	N	0.14661	0.345	0.33195	D	0.551371	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.35649	-0.9780	10	0.12766	T	0.61	-14.6604	2.2505	0.04042	0.2436:0.2126:0.4278:0.116	.	1400;1237	P52746;A8MWU9	ZN142_HUMAN;.	V	1400	ENSP00000408643:L1400V;ENSP00000398798:L1400V	ENSP00000398798:L1400V	L	-	1	2	ZNF142	219215285	0.179000	0.23135	1.000000	0.80357	0.992000	0.81027	-0.546000	0.06062	0.393000	0.25203	-0.150000	0.13652	CTG		0.612	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		17	43	0	0	0	0	17	43				
SLC4A3	6508	broad.mit.edu	37	2	220494312	220494312	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:220494312G>A	ENST00000358055.3	+	5	1018	c.506G>A	c.(505-507)gGa>gAa	p.G169E	AC009955.8_ENST00000455896.1_RNA|SLC4A3_ENST00000273063.6_Missense_Mutation_p.G169E|SLC4A3_ENST00000373762.3_Missense_Mutation_p.G169E|SLC4A3_ENST00000317151.3_Missense_Mutation_p.G169E|SLC4A3_ENST00000373760.2_Missense_Mutation_p.G169E|SLC4A3_ENST00000497589.1_Intron			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	169					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCTCCATTGGAAGTGACGAG	0.637																																						uc002vmp.3		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5						c.(505-507)GGA>GAA		solute carrier family 4, anion exchanger, member							43.0	43.0	43.0					2																	220494312		2203	4300	6503	SO:0001583	missense	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220494312G>A		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.506G>A	2.37:g.220494312G>A	ENSP00000350756:p.Gly169Glu					SLC4A3_uc002vmn.2_Missense_Mutation_p.G169E|SLC4A3_uc002vmo.3_Missense_Mutation_p.G169E|SLC4A3_uc010fwm.2_5'UTR|SLC4A3_uc010fwn.1_5'Flank	p.G169E	NM_005070	NP_005061	P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	775	+		Renal(207;0.0183)	169			Cytoplasmic.		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	c.506G>A	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457390	0.63401	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151	T;T;T;T;T	0.74315	-0.69;-0.69;-0.83;-0.83;-0.69	4.77	4.77	0.60923	.	1.274300	0.05393	N	0.539372	D	0.82332	0.5014	L	0.43152	1.355	0.53005	D	0.999965	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	T	0.69617	-0.5097	10	0.12430	T	0.62	.	14.6455	0.68756	0.0:0.0:1.0:0.0	.	169;169	P48751;P48751-3	B3A3_HUMAN;.	E	169	ENSP00000350756:G169E;ENSP00000362865:G169E;ENSP00000273063:G169E;ENSP00000362867:G169E;ENSP00000314006:G169E	ENSP00000273063:G169E	G	+	2	0	SLC4A3	220202556	0.986000	0.35501	0.989000	0.46669	0.977000	0.68977	2.451000	0.44952	2.470000	0.83445	0.462000	0.41574	GGA		0.637	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		13	22	0	0	0	0	13	22				
FARP2	9855	broad.mit.edu	37	2	242401976	242401976	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:242401976G>A	ENST00000264042.3	+	15	1796	c.1626G>A	c.(1624-1626)gaG>gaA	p.E542E	FARP2_ENST00000545004.1_Silent_p.E542E|FARP2_ENST00000373287.4_Silent_p.E542E	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	542	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		TAGTCAAAGAGATTCTCGCTA	0.453																																						uc002wbi.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1624-1626)GAG>GAA		FERM, RhoGEF and pleckstrin domain protein 2							103.0	96.0	98.0					2																	242401976		2203	4300	6503	SO:0001819	synonymous_variant	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242401976G>A	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.1626G>A	2.37:g.242401976G>A						FARP2_uc010zoq.1_Silent_p.E542E|FARP2_uc010zor.1_Silent_p.E542E	p.E542E	NM_014808	NP_055623	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	15	1743	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	542			DH.		B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Silent	SNP	ENST00000264042.3	37	c.1626G>A	CCDS33424.1																																																																																				0.453	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			9	50	0	0	0	0	9	50				
NINL	22981	broad.mit.edu	37	20	25477346	25477346	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr20:25477346C>T	ENST00000278886.6	-	10	1336	c.1263G>A	c.(1261-1263)atG>atA	p.M421I	NINL_ENST00000422516.1_Missense_Mutation_p.M421I	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	421					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GGCAGTCGTCCATCTCTTTCA	0.602																																						uc002wux.1		NA																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(1261-1263)ATG>ATA		ninein-like							105.0	88.0	94.0					20																	25477346		2203	4300	6503	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25477346C>T		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.1263G>A	20.37:g.25477346C>T	ENSP00000278886:p.Met421Ile					NINL_uc010gdn.1_Missense_Mutation_p.M421I|NINL_uc010gdo.1_Missense_Mutation_p.M204I|NINL_uc010ztf.1_Missense_Mutation_p.M437I	p.M421I	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN			10	1337	-			421			Potential.		A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.1263G>A	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.898629	0.33535	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.27104	1.92;1.69	5.03	5.03	0.67393	.	0.180238	0.48767	D	0.000179	T	0.27134	0.0665	M	0.63428	1.95	0.36693	D	0.879671	P;P	0.49185	0.794;0.92	B;B	0.39805	0.31;0.292	T	0.33445	-0.9868	10	0.45353	T	0.12	-31.6993	13.5975	0.61998	0.0:0.8431:0.1569:0.0	.	421;421	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	I	421	ENSP00000278886:M421I;ENSP00000410431:M421I	ENSP00000278886:M421I	M	-	3	0	NINL	25425346	1.000000	0.71417	1.000000	0.80357	0.461000	0.32589	1.795000	0.38784	2.596000	0.87737	0.650000	0.86243	ATG		0.602	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		6	37	0	0	0	0	6	37				
ERG	2078	broad.mit.edu	37	21	39947591	39947591	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr21:39947591T>C	ENST00000417133.2	-	3	219	c.34A>G	c.(34-36)Atc>Gtc	p.I12V	ERG_ENST00000398897.1_De_novo_Start_InFrame|ERG_ENST00000485493.1_5'UTR|ERG_ENST00000398919.2_Missense_Mutation_p.I12V|ERG_ENST00000398910.1_Missense_Mutation_p.I12V|ERG_ENST00000442448.1_Missense_Mutation_p.I12V|ERG_ENST00000398911.1_Missense_Mutation_p.I12V	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	0					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CTTACCTTGATATGAGCTGCT	0.507			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""																																Esophageal Squamous(130;336 1700 3010 3083 40589)	uc010gnw.2		NA		Dom	yes		21	21q22.3	2078		v-ets erythroblastosis virus E26 oncogene like (avian)			"""M, E, L"""				TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162)	0				prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1)	2828						c.(34-36)ATC>GTC		ets-related isoform 4							105.0	87.0	93.0					21																	39947591		2203	4300	6503	SO:0001583	missense	2078				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:39947591T>C		CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"""v-ets avian erythroblastosis virus E26 oncogene related"", ""transcriptional regulator ERG (transforming protein ERG)"", ""v-ets erythroblastosis virus E26 oncogene like"", ""TMPRSS2-ERG prostate cancer specific"""	165080	"""v-ets avian erythroblastosis virus E26 oncogene related"""			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.34A>G	21.37:g.39947591T>C	ENSP00000414150:p.Ile12Val					ERG_uc010gnv.2_Translation_Start_Site|ERG_uc010gnx.2_Missense_Mutation_p.I12V|ERG_uc011ael.1_Missense_Mutation_p.I12V|ERG_uc002yxb.2_Missense_Mutation_p.I12V|ERG_uc002yxc.3_Missense_Mutation_p.I12V|ERG_uc010gnz.2_RNA	p.I12V	NM_001136155	NP_001129627	P11308	ERG_HUMAN			3	329	-		Prostate(19;3.6e-06)	12					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000417133.2	37	c.34A>G	CCDS46648.1	.	.	.	.	.	.	.	.	.	.	T	11.04	1.522966	0.27211	.	.	ENSG00000157554	ENST00000398911;ENST00000417133;ENST00000398910;ENST00000442448;ENST00000398919	T;T;T;T;T	0.13196	2.61;2.63;2.61;2.61;2.63	5.15	-0.155	0.13395	.	0.750388	0.12686	N	0.447548	T	0.06735	0.0172	N	0.17474	0.49	0.80722	D	1	B;B;B	0.19331	0.0;0.035;0.0	B;B;B	0.12837	0.001;0.008;0.002	T	0.32561	-0.9902	10	0.29301	T	0.29	.	4.4606	0.11665	0.1352:0.2361:0.0:0.6286	.	12;12;12	P11308;P11308-6;P11308-1	ERG_HUMAN;.;.	V	12	ENSP00000381882:I12V;ENSP00000414150:I12V;ENSP00000381881:I12V;ENSP00000394694:I12V;ENSP00000381891:I12V	ENSP00000381881:I12V	I	-	1	0	ERG	38869461	0.999000	0.42202	0.986000	0.45419	0.977000	0.68977	0.565000	0.23578	-0.102000	0.12197	-0.256000	0.11100	ATC		0.507	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207532.2	NM_182918		3	29	0	0	0	0	3	29				
DSCAM	1826	broad.mit.edu	37	21	41496129	41496129	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr21:41496129T>C	ENST00000400454.1	-	20	4166	c.3689A>G	c.(3688-3690)tAt>tGt	p.Y1230C		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1230	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TACTGTGGGATAGGGGTGGGA	0.552																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NA																	0				ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(3688-3690)TAT>TGT		Down syndrome cell adhesion molecule isoform							189.0	194.0	192.0					21																	41496129		2013	4170	6183	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41496129T>C	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.3689A>G	21.37:g.41496129T>C	ENSP00000383303:p.Tyr1230Cys					DSCAM_uc002yyr.1_RNA	p.Y1230C	NM_001389	NP_001380	O60469	DSCAM_HUMAN			20	4141	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1230			Fibronectin type-III 4.|Extracellular (Potential).		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.3689A>G	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	T	19.88	3.909717	0.72983	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.56941	0.43;0.43	5.2	5.2	0.72013	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.130399	0.53938	D	0.000051	T	0.48502	0.1503	N	0.12182	0.205	0.50632	D	0.99988	D	0.60160	0.987	P	0.54372	0.75	T	0.56263	-0.8008	10	0.56958	D	0.05	.	15.0468	0.71833	0.0:0.0:0.0:1.0	.	1230	O60469	DSCAM_HUMAN	C	1230;982	ENSP00000383303:Y1230C;ENSP00000385342:Y982C	ENSP00000383303:Y1230C	Y	-	2	0	DSCAM	40417999	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	7.864000	0.87037	1.937000	0.56155	0.460000	0.39030	TAT		0.552	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		15	133	0	0	0	0	15	133				
DSCAM	1826	broad.mit.edu	37	21	41711195	41711195	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr21:41711195T>C	ENST00000400454.1	-	7	1835	c.1358A>G	c.(1357-1359)cAc>cGc	p.H453R		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	453	Ig-like C2-type 5.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCTGATGCGGTGACTGCCACC	0.607																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NA																	0				ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(1357-1359)CAC>CGC		Down syndrome cell adhesion molecule isoform							78.0	80.0	80.0					21																	41711195		2096	4219	6315	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41711195T>C	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1358A>G	21.37:g.41711195T>C	ENSP00000383303:p.His453Arg					DSCAM_uc002yyr.1_RNA	p.H453R	NM_001389	NP_001380	O60469	DSCAM_HUMAN			7	1810	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	453			Extracellular (Potential).|Ig-like C2-type 5.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.1358A>G	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	T	11.07	1.529509	0.27387	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.67523	-0.27;-0.27	5.82	5.82	0.92795	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.59445	0.2194	L	0.31371	0.925	0.49582	D	0.999804	B	0.29232	0.238	B	0.34873	0.191	T	0.56866	-0.7908	10	0.33141	T	0.24	.	16.1569	0.81675	0.0:0.0:0.0:1.0	.	453	O60469	DSCAM_HUMAN	R	453;205	ENSP00000383303:H453R;ENSP00000385342:H205R	ENSP00000383303:H453R	H	-	2	0	DSCAM	40633065	1.000000	0.71417	0.997000	0.53966	0.025000	0.11179	4.987000	0.63857	2.215000	0.71742	0.533000	0.62120	CAC		0.607	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		3	36	0	0	0	0	3	36				
PFKL	5211	broad.mit.edu	37	21	45730967	45730967	+	Splice_Site	SNP	G	G	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr21:45730967G>T	ENST00000349048.4	+	3	292		c.e3+1		PFKL_ENST00000403390.1_Splice_Site|PFKL_ENST00000496824.1_Splice_Site	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver						carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		CATCCAGCTGGTGAGGCCTGG	0.572																																						uc002zel.2		NA																	0					0						c.e3+1		liver phosphofructokinase							135.0	95.0	109.0					21																	45730967		2203	4299	6502	SO:0001630	splice_region_variant	5211				fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	g.chr21:45730967G>T		CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.237+1G>T	21.37:g.45730967G>T						PFKL_uc002zek.2_Splice_Site_p.L126_splice|PFKL_uc011afd.1_Splice_Site_p.L126_splice	p.L79_splice	NM_002626	NP_002617	P17858	K6PL_HUMAN		Colorectal(79;0.0811)	3	296	+								Q96A64|Q96IH4|Q9BR91	Splice_Site	SNP	ENST00000349048.4	37	c.237_splice	CCDS33582.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.193123	0.38707	.	.	ENSG00000141959	ENST00000349048;ENST00000381188;ENST00000403390	.	.	.	4.35	4.35	0.52113	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.102	0.81178	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PFKL	44555395	1.000000	0.71417	1.000000	0.80357	0.196000	0.23810	9.270000	0.95690	2.154000	0.67381	0.454000	0.30748	.		0.572	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1		Intron	6	20	1	0	3.6e-05	3.91e-05	6	20				
GGTLC2	91227	broad.mit.edu	37	22	22988944	22988944	+	Silent	SNP	C	C	G	rs576426248		TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr22:22988944C>G	ENST00000480559.1	+	1	129	c.129C>G	c.(127-129)gtC>gtG	p.V43V	POM121L1P_ENST00000402027.1_RNA|GGTLC2_ENST00000448514.1_Silent_p.V43V	NM_199127.2	NP_954578.2	Q14390	GGTL2_HUMAN	gamma-glutamyltransferase light chain 2	43					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)	gamma-glutamyltransferase activity (GO:0003840)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		TGTCTGTCGTCGCAGAGGACG	0.652																																						uc010gtt.2		NA																	0				ovary(1)	1						c.(127-129)GTC>GTG		gamma-glutamyltransferase-like 4 isoform 1							21.0	11.0	14.0					22																	22988944		2185	4109	6294	SO:0001819	synonymous_variant	91227				glutathione biosynthetic process		gamma-glutamyltransferase activity	g.chr22:22988944C>G	X98922	CCDS13802.2	22q11.21	2008-03-25	2008-03-10	2008-03-10	ENSG00000100121	ENSG00000100121		"""Gamma-glutamyltransferases"""	18596	protein-coding gene	gene with protein product		612339	"""gamma-glutamyltransferase-like 4"""	GGTL4		9074928, 18357469	Standard	NM_199127		Approved		uc010gtt.2	Q14390	OTTHUMG00000151177	ENST00000480559.1:c.129C>G	22.37:g.22988944C>G						LOC96610_uc011aim.1_Intron|POM121L1P_uc011ait.1_5'Flank|GGTLC2_uc010gts.2_Silent_p.V43V	p.V43V	NM_199127	NP_954578	Q14390	GGTL2_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	1	163	+	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)	43					A1A516|A2VCM9|Q5NV76|Q6ISH0	Silent	SNP	ENST00000480559.1	37	c.129C>G	CCDS13802.2																																																																																				0.652	GGTLC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321662.1	NM_199127		2	7	0	0	0	0	2	7				
SFI1	9814	broad.mit.edu	37	22	32011159	32011159	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr22:32011159C>G	ENST00000400288.2	+	29	3299	c.3194C>G	c.(3193-3195)tCa>tGa	p.S1065*	SFI1_ENST00000443326.1_Nonsense_Mutation_p.S983*|SFI1_ENST00000432498.1_Nonsense_Mutation_p.S1034*|SFI1_ENST00000540643.1_Nonsense_Mutation_p.S1010*|SFI1_ENST00000400289.1_Nonsense_Mutation_p.S983*|SFI1_ENST00000414585.1_Nonsense_Mutation_p.S912*|SFI1_ENST00000443011.1_Nonsense_Mutation_p.S912*|SFI1_ENST00000474741.1_3'UTR	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	1065					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						GGGGCCCTGTCAAGCGCCCCT	0.716																																						uc003ale.2		NA																	0				central_nervous_system(1)	1						c.(3193-3195)TCA>TGA		spindle assembly associated Sfi1 homolog isoform							12.0	15.0	14.0					22																	32011159		1893	4077	5970	SO:0001587	stop_gained	9814				G2/M transition of mitotic cell cycle	centriole|cytosol		g.chr22:32011159C>G	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 139"""	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.3194C>G	22.37:g.32011159C>G	ENSP00000383145:p.Ser1065*					SFI1_uc003alf.2_Nonsense_Mutation_p.S1034*|SFI1_uc003alg.2_Nonsense_Mutation_p.S983*|SFI1_uc011alp.1_Nonsense_Mutation_p.S971*|SFI1_uc011alq.1_Nonsense_Mutation_p.S1010*|SFI1_uc003alh.2_RNA|SFI1_uc010gwi.2_RNA|SFI1_uc003ali.2_Nonsense_Mutation_p.S157*|SFI1_uc003alj.2_Nonsense_Mutation_p.S199*	p.S1065*	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN			29	3587	+			1065					A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Nonsense_Mutation	SNP	ENST00000400288.2	37	c.3194C>G	CCDS43004.1	.	.	.	.	.	.	.	.	.	.	C	36	5.829943	0.96996	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000421060;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288	.	.	.	4.21	0.96	0.19631	.	1.347250	0.04696	N	0.415029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	7.3967	0.26939	0.0:0.7233:0.0:0.2767	.	.	.	.	X	1034;1010;983;814;912;912;983;1065	.	ENSP00000383145:S1065X	S	+	2	0	SFI1	30341159	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.255000	0.08769	0.180000	0.19960	0.655000	0.94253	TCA		0.716	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		6	29	0	0	0	0	6	29				
SLC5A4	6527	broad.mit.edu	37	22	32650129	32650129	+	Splice_Site	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr22:32650129C>T	ENST00000266086.4	-	2	218	c.207G>A	c.(205-207)ccG>ccA	p.P69P	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	69					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATCCACTTACCGGCCACCAGG	0.522																																						uc003ami.2		NA																	0					0						c.(205-207)CCG>CCA		solute carrier family 5 (low affinity glucose							93.0	82.0	86.0					22																	32650129		2203	4300	6503	SO:0001630	splice_region_variant	6527				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	g.chr22:32650129C>T	U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"""Solute carriers"""	11039	protein-coding gene	gene with protein product			"""solute carrier family 5 (low affinity glucose cotransporter), member 4"""			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.207+1G>A	22.37:g.32650129C>T							p.P69P	NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN			2	209	-			69			Helical; (Potential).		O15279	Silent	SNP	ENST00000266086.4	37	c.207G>A	CCDS13903.1																																																																																				0.522	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315724.1	NM_014227	Silent	29	35	0	0	0	0	29	35				
ZIC1	7545	broad.mit.edu	37	3	147128517	147128517	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr3:147128517G>A	ENST00000282928.4	+	1	1347	c.618G>A	c.(616-618)gcG>gcA	p.A206A		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	206					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						ACATGGCCGCGCATCACGGCG	0.652																																						uc003ewe.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(616-618)GCG>GCA		zinc finger protein of the cerebellum 1							42.0	45.0	44.0					3																	147128517		2203	4300	6503	SO:0001819	synonymous_variant	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128517G>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.618G>A	3.37:g.147128517G>A							p.A206A	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			1	1337	+			206					Q2M3N1	Silent	SNP	ENST00000282928.4	37	c.618G>A	CCDS3136.1																																																																																				0.652	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		14	48	0	0	0	0	14	48				
SI	6476	broad.mit.edu	37	3	164741544	164741544	+	Silent	SNP	T	T	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr3:164741544T>A	ENST00000264382.3	-	26	2975	c.2913A>T	c.(2911-2913)gcA>gcT	p.A971A		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	971	Isomaltase.|P-type 2. {ECO:0000255|PROSITE- ProRule:PRU00779}.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	AACACTCAGGTGCTTTGGATA	0.363										HNSCC(35;0.089)																												uc003fei.2		NA																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(2911-2913)GCA>GCT		sucrase-isomaltase	Acarbose(DB00284)						86.0	83.0	84.0					3																	164741544		2203	4300	6503	SO:0001819	synonymous_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164741544T>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2913A>T	3.37:g.164741544T>A		HNSCC(35;0.089)					p.A971A	NM_001041	NP_001032	P14410	SUIS_HUMAN			26	2975	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	971			Lumenal.|P-type 2.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	ENST00000264382.3	37	c.2913A>T	CCDS3196.1																																																																																				0.363	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		18	90	0	0	0	0	18	90				
EVC	2121	broad.mit.edu	37	4	5755517	5755517	+	Missense_Mutation	SNP	G	G	A	rs202150959		TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr4:5755517G>A	ENST00000264956.6	+	10	1505	c.1321G>A	c.(1321-1323)Gtc>Atc	p.V441I	EVC_ENST00000382674.2_Missense_Mutation_p.V441I|EVC_ENST00000509451.1_Missense_Mutation_p.V441I	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	441					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				CCCAGAGTTTGTCCAGCGAGG	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		19349	0.0		0.001	False		,,,				2504	0.0					uc003gil.1		NA																	0				ovary(1)|skin(1)	2						c.(1321-1323)GTC>ATC		Ellis van Creveld syndrome protein		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	103.0	106.0	105.0		1321	3.6	0.9	4		105	6,8594	5.0+/-18.6	0,6,4294	yes	missense	EVC	NM_153717.2	29	0,7,6496	AA,AG,GG		0.0698,0.0227,0.0538	benign	441/993	5755517	7,12999	2203	4300	6503	SO:0001583	missense	2121				muscle organ development	integral to membrane		g.chr4:5755517G>A	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.1321G>A	4.37:g.5755517G>A	ENSP00000264956:p.Val441Ile					EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Intron	p.V441I	NM_153717	NP_714928	P57679	EVC_HUMAN			10	1505	+		Myeloproliferative disorder(84;0.117)	441						Missense_Mutation	SNP	ENST00000264956.6	37	c.1321G>A	CCDS3383.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	9.873	1.199391	0.22121	2.27E-4	6.98E-4	ENSG00000072840	ENST00000264956;ENST00000382674;ENST00000509451	T;T;T	0.51071	0.72;0.72;0.78	4.74	3.63	0.41609	.	0.706756	0.13402	N	0.390574	T	0.36413	0.0966	L	0.45581	1.43	0.50467	D	0.999873	B	0.16396	0.017	B	0.15052	0.012	T	0.11867	-1.0570	10	0.26408	T	0.33	.	4.8601	0.13579	0.1582:0.1967:0.6451:0.0	.	441	P57679	EVC_HUMAN	I	441	ENSP00000264956:V441I;ENSP00000372120:V441I;ENSP00000426774:V441I	ENSP00000264956:V441I	V	+	1	0	EVC	5806418	0.010000	0.17322	0.907000	0.35723	0.874000	0.50279	0.457000	0.21875	0.680000	0.31366	0.561000	0.74099	GTC		0.552	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			5	91	0	0	0	0	5	91				
ZNF518B	85460	broad.mit.edu	37	4	10444982	10444982	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr4:10444982G>A	ENST00000326756.3	-	3	3409	c.2971C>T	c.(2971-2973)Cgc>Tgc	p.R991C		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	991					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TAGGTCAGGCGTACATGATGC	0.383																																						uc003gmn.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(2971-2973)CGC>TGC		zinc finger protein 518B							114.0	106.0	109.0					4																	10444982		2203	4300	6503	SO:0001583	missense	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10444982G>A	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2971C>T	4.37:g.10444982G>A	ENSP00000317614:p.Arg991Cys						p.R991C	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN			3	3458	-			991					Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	c.2971C>T	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.898165	0.52227	.	.	ENSG00000178163	ENST00000326756	T	0.01821	4.62	6.17	6.17	0.99709	.	0.253503	0.33792	N	0.004558	T	0.02230	0.0069	L	0.50333	1.59	0.41240	D	0.986633	D	0.55172	0.97	B	0.34873	0.191	T	0.54098	-0.8344	10	0.87932	D	0	-14.1305	13.0796	0.59107	0.0723:0.0:0.9277:0.0	.	991	Q9C0D4	Z518B_HUMAN	C	991	ENSP00000317614:R991C	ENSP00000317614:R991C	R	-	1	0	ZNF518B	10054080	0.073000	0.21202	0.131000	0.22000	0.272000	0.26649	2.076000	0.41548	2.941000	0.99782	0.655000	0.94253	CGC		0.383	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		16	51	0	0	0	0	16	51				
IRF2	3660	broad.mit.edu	37	4	185340660	185340660	+	Silent	SNP	T	T	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr4:185340660T>C	ENST00000393593.3	-	3	357	c.150A>G	c.(148-150)aaA>aaG	p.K50K	IRF2_ENST00000512020.1_5'UTR	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	50					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		GTGGTGCATCTTTTTCCACAT	0.398																																						uc003iwf.3		NA																	0				ovary(1)	1						c.(148-150)AAA>AAG		interferon regulatory factor 2							137.0	138.0	138.0					4																	185340660		2203	4300	6503	SO:0001819	synonymous_variant	3660				blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr4:185340660T>C		CCDS3835.1	4q34.1-q35.1	2008-07-29				ENSG00000168310			6117	protein-coding gene	gene with protein product		147576				2475256	Standard	NM_002199		Approved		uc003iwf.4	P14316		ENST00000393593.3:c.150A>G	4.37:g.185340660T>C							p.K50K	NM_002199	NP_002190	P14316	IRF2_HUMAN		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)	3	350	-		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)	50			IRF tryptophan pentad repeat.		D6RCK5|H0Y8S3|Q6IAS7|Q96B99	Silent	SNP	ENST00000393593.3	37	c.150A>G	CCDS3835.1																																																																																				0.398	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361393.1			11	82	0	0	0	0	11	82				
ADCY2	108	broad.mit.edu	37	5	7695903	7695903	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr5:7695903C>A	ENST00000338316.4	+	6	997	c.908C>A	c.(907-909)gCa>gAa	p.A303E	ADCY2_ENST00000537121.1_Missense_Mutation_p.A123E	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	303					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACCCGGCTGGCAAGTGACTGC	0.428																																						uc003jdz.1		NA																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(907-909)GCA>GAA		adenylate cyclase 2							99.0	90.0	93.0					5																	7695903		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7695903C>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.908C>A	5.37:g.7695903C>A	ENSP00000342952:p.Ala303Glu					ADCY2_uc011cmo.1_Missense_Mutation_p.A123E	p.A303E	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			6	975	+			303			Cytoplasmic (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.908C>A	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	C	31	5.058311	0.93846	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000515681;ENST00000537121	D;D;D	0.85556	-2.0;-2.0;-2.0	5.51	4.63	0.57726	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.92987	0.7768	M	0.86343	2.81	0.49687	D	0.999818	D;D	0.71674	0.991;0.998	D;D	0.72075	0.921;0.976	D	0.94276	0.7515	10	0.87932	D	0	.	15.9614	0.79933	0.1361:0.8639:0.0:0.0	.	123;303	B7Z2C1;Q08462	.;ADCY2_HUMAN	E	303;154;92;123	ENSP00000342952:A303E;ENSP00000425069:A92E;ENSP00000444803:A123E	ENSP00000342952:A303E	A	+	2	0	ADCY2	7748903	1.000000	0.71417	0.982000	0.44146	0.956000	0.61745	7.444000	0.80532	1.427000	0.47276	0.655000	0.94253	GCA		0.428	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		15	14	1	0	2.32e-09	2.62e-09	15	14				
SEMA5A	9037	broad.mit.edu	37	5	9224908	9224908	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr5:9224908G>C	ENST00000382496.5	-	8	1189	c.524C>G	c.(523-525)gCt>gGt	p.A175G		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	175	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CTCCCCACCAGCTGTGAGGAG	0.572																																						uc003jek.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(523-525)GCT>GGT		semaphorin 5A precursor							92.0	80.0	84.0					5																	9224908		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9224908G>C	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.524C>G	5.37:g.9224908G>C	ENSP00000371936:p.Ala175Gly						p.A175G	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			8	1236	-			175			Sema.|Extracellular (Potential).		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.524C>G	CCDS3875.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.878|9.878	1.200769|1.200769	0.22121|0.22121	.|.	.|.	ENSG00000112902|ENSG00000112902	ENST00000382496;ENST00000513968|ENST00000514923	T;T|.	0.38240|.	1.15;1.97|.	5.38|5.38	3.58|3.58	0.41010|0.41010	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);|.	0.053192|.	0.85682|.	D|.	0.000000|.	T|T	0.32133|0.32133	0.0819|0.0819	L|L	0.28556|0.28556	0.865|0.865	0.09310|0.09310	N|N	1|1	B|.	0.22211|.	0.066|.	B|.	0.25759|.	0.063|.	T|T	0.19844|0.19844	-1.0293|-1.0293	10|5	0.40728|.	T|.	0.16|.	.|.	7.4059|7.4059	0.26991|0.26991	0.0899:0.1684:0.7417:0.0|0.0899:0.1684:0.7417:0.0	.|.	175|.	Q13591|.	SEM5A_HUMAN|.	G|R	175|122	ENSP00000371936:A175G;ENSP00000421961:A175G|.	ENSP00000371936:A175G|.	A|S	-|-	2|3	0|2	SEMA5A|SEMA5A	9277908|9277908	0.980000|0.980000	0.34600|0.34600	0.002000|0.002000	0.10522|0.10522	0.206000|0.206000	0.24218|0.24218	4.983000|4.983000	0.63832|0.63832	0.639000|0.639000	0.30564|0.30564	0.650000|0.650000	0.86243|0.86243	GCT|AGC		0.572	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			15	19	0	0	0	0	15	19				
RICTOR	253260	broad.mit.edu	37	5	38950400	38950400	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr5:38950400T>G	ENST00000357387.3	-	31	3580	c.3550A>C	c.(3550-3552)Aaa>Caa	p.K1184Q	RICTOR_ENST00000296782.5_Missense_Mutation_p.K1184Q	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TTGGTGAATTTTAAGTCATTT	0.368																																						uc003jlp.2		NA																	0				ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10						c.(3550-3552)AAA>CAA		rapamycin-insensitive companion of mTOR							141.0	152.0	148.0					5																	38950400		2203	4299	6502	SO:0001583	missense	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38950400T>G		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.3550A>C	5.37:g.38950400T>G	ENSP00000349959:p.Lys1184Gln					RICTOR_uc003jlo.2_Missense_Mutation_p.K1184Q|RICTOR_uc010ivf.2_Missense_Mutation_p.K899Q	p.K1184Q	NM_152756	NP_689969	Q6R327	RICTR_HUMAN			31	3574	-	all_lung(31;0.000396)		1184						Missense_Mutation	SNP	ENST00000357387.3	37	c.3550A>C	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	T	13.62	2.292857	0.40594	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.47869	0.84;0.83	5.86	5.86	0.93980	.	0.096756	0.64402	D	0.000001	T	0.48589	0.1508	L	0.50333	1.59	0.39808	D	0.972665	P;P	0.40476	0.718;0.718	B;B	0.41036	0.346;0.346	T	0.55522	-0.8128	10	0.87932	D	0	-22.4618	16.5602	0.84551	0.0:0.0:0.0:1.0	.	1184;1184	Q6R327;Q6R327-3	RICTR_HUMAN;.	Q	1184	ENSP00000349959:K1184Q;ENSP00000296782:K1184Q	ENSP00000296782:K1184Q	K	-	1	0	RICTOR	38986157	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	4.976000	0.63785	2.367000	0.80283	0.528000	0.53228	AAA		0.368	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		29	137	0	0	0	0	29	137				
CCNB1	891	broad.mit.edu	37	5	68467126	68467126	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr5:68467126A>C	ENST00000256442.5	+	4	646	c.393A>C	c.(391-393)gaA>gaC	p.E131D		NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1	131					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to iron(III) ion (GO:0071283)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle checkpoint (GO:0071174)|mitotic spindle stabilization (GO:0043148)|negative regulation of gene expression (GO:0010629)|negative regulation of protein phosphorylation (GO:0001933)|oocyte maturation (GO:0001556)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of chromosome condensation (GO:0060623)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to DDT (GO:0046680)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|spermatogenesis (GO:0007283)|tissue regeneration (GO:0042246)|ventricular cardiac muscle cell development (GO:0055015)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase activity (GO:0016301)|patched binding (GO:0005113)|protein kinase binding (GO:0019901)			large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		GCCCAATGGAAACATCTGGAT	0.423																																						uc003jvm.2		NA																	0					0						c.(391-393)GAA>GAC		cyclin B1							123.0	121.0	121.0					5																	68467126		2203	4300	6503	SO:0001583	missense	891				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole		g.chr5:68467126A>C	U22364	CCDS3997.1	5q12	2008-07-18			ENSG00000134057	ENSG00000134057			1579	protein-coding gene	gene with protein product	"""G2/mitotic-specific cyclin B1"""	123836		CCNB		1386342	Standard	NM_031966		Approved		uc003jvm.3	P14635	OTTHUMG00000097817	ENST00000256442.5:c.393A>C	5.37:g.68467126A>C	ENSP00000256442:p.Glu131Asp					CCNB1_uc011crd.1_Missense_Mutation_p.E131D|CCNB1_uc010ixb.2_Missense_Mutation_p.E131D	p.E131D	NM_031966	NP_114172	P14635	CCNB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)	4	570	+		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)	131					A8K066|Q5TZP9	Missense_Mutation	SNP	ENST00000256442.5	37	c.393A>C	CCDS3997.1	.	.	.	.	.	.	.	.	.	.	A	10.23	1.294116	0.23564	.	.	ENSG00000134057	ENST00000256442;ENST00000506572;ENST00000508407;ENST00000505500	T;T;T;T	0.14022	2.66;2.54;2.54;2.54	5.88	2.25	0.28309	.	0.445539	0.24762	N	0.035807	T	0.13543	0.0328	L	0.41356	1.27	0.49687	D	0.999818	P;B;B	0.50617	0.937;0.27;0.022	P;B;B	0.49708	0.62;0.147;0.019	T	0.17018	-1.0383	10	0.11794	T	0.64	.	8.3932	0.32542	0.6073:0.0:0.3927:0.0	.	131;131;131	E9PC90;Q5TZP9;P14635	.;.;CCNB1_HUMAN	D	131	ENSP00000256442:E131D;ENSP00000423387:E131D;ENSP00000426092:E131D;ENSP00000424588:E131D	ENSP00000256442:E131D	E	+	3	2	CCNB1	68502882	0.997000	0.39634	1.000000	0.80357	0.977000	0.68977	0.546000	0.23284	0.158000	0.19367	0.482000	0.46254	GAA		0.423	CCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215084.1	NM_031966		3	46	0	0	0	0	3	46				
FER	2241	broad.mit.edu	37	5	108233448	108233448	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr5:108233448G>C	ENST00000281092.4	+	10	1519	c.1135G>C	c.(1135-1137)Gca>Cca	p.A379P	FER_ENST00000438717.2_Missense_Mutation_p.A204P|FER_ENST00000536402.1_Intron	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	379					actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		AAAGTTTTCAGCACAGAAGGA	0.398																																					Colon(146;1051 1799 9836 27344 47401)	uc003kop.1		NA																	0				lung(2)|stomach(1)|ovary(1)|kidney(1)	5						c.(1135-1137)GCA>CCA		fer (fps/fes related) tyrosine kinase							70.0	67.0	68.0					5																	108233448		2202	4300	6502	SO:0001583	missense	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108233448G>C	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.1135G>C	5.37:g.108233448G>C	ENSP00000281092:p.Ala379Pro					FER_uc011cvf.1_Intron|FER_uc011cvg.1_Missense_Mutation_p.A204P	p.A379P	NM_005246	NP_005237	P16591	FER_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)	10	1519	+		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)	379			Potential.		B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	37	c.1135G>C	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733599	0.89482	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	T;T	0.76060	-0.97;-0.99	5.84	5.84	0.93424	.	0.046113	0.85682	D	0.000000	D	0.84570	0.5501	M	0.73962	2.25	0.58432	D	0.999999	D	0.63880	0.993	P	0.58721	0.844	D	0.83369	0.0006	10	0.42905	T	0.14	-9.3508	20.1434	0.98067	0.0:0.0:1.0:0.0	.	379	P16591	FER_HUMAN	P	379;204	ENSP00000281092:A379P;ENSP00000394297:A204P	ENSP00000281092:A379P	A	+	1	0	FER	108261347	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.562000	0.82300	2.760000	0.94817	0.591000	0.81541	GCA		0.398	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246		4	23	0	0	0	0	4	23				
PCDHA1	56147	broad.mit.edu	37	5	140167440	140167440	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr5:140167440C>T	ENST00000504120.2	+	1	1565	c.1565C>T	c.(1564-1566)cCc>cTc	p.P522L	PCDHA1_ENST00000378133.3_Missense_Mutation_p.P522L|PCDHA1_ENST00000394633.3_Missense_Mutation_p.P522L	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	522	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACTGCAGCCCCTGGACCAC	0.677																																						uc003lhb.2		NA																	0				skin(1)	1						c.(1564-1566)CCC>CTC		protocadherin alpha 1 isoform 1 precursor							76.0	79.0	78.0					5																	140167440		2203	4300	6503	SO:0001583	missense	56147				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140167440C>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1565C>T	5.37:g.140167440C>T	ENSP00000420840:p.Pro522Leu					PCDHA1_uc003lha.2_Missense_Mutation_p.P522L|PCDHA1_uc003lgz.2_Missense_Mutation_p.P522L	p.P522L	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1565	+			522			Cadherin 5.|Extracellular (Potential).		O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.1565C>T	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	c	17.60	3.430940	0.62844	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.56275	0.47;0.47;0.47	3.63	3.63	0.41609	Cadherin (5);Cadherin-like (1);	0.000000	0.41194	U	0.000928	T	0.63896	0.2550	L	0.45698	1.435	0.30465	N	0.773863	D;P;D	0.65815	0.99;0.931;0.995	P;B;D	0.63957	0.734;0.396;0.92	T	0.67711	-0.5600	10	0.87932	D	0	.	15.7182	0.77685	0.0:1.0:0.0:0.0	.	522;522;522	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	L	522	ENSP00000420840:P522L;ENSP00000378129:P522L;ENSP00000367373:P522L	ENSP00000367373:P522L	P	+	2	0	PCDHA1	140147624	0.844000	0.29557	0.994000	0.49952	0.833000	0.47200	4.552000	0.60747	1.768000	0.52137	0.549000	0.68633	CCC		0.677	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		39	35	0	0	0	0	39	35				
DOCK2	1794	broad.mit.edu	37	5	169508940	169508940	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr5:169508940C>A	ENST00000256935.8	+	51	5462	c.5382C>A	c.(5380-5382)gaC>gaA	p.D1794E	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.D1286E|DOCK2_ENST00000540750.1_Missense_Mutation_p.D855E	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1794					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGATGGTGACAAGAAGACAC	0.542																																						uc003maf.2		NA																	0				ovary(5)|pancreas(2)	7						c.(5380-5382)GAC>GAA		dedicator of cytokinesis 2							114.0	105.0	108.0					5																	169508940		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169508940C>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.5382C>A	5.37:g.169508940C>A	ENSP00000256935:p.Asp1794Glu					DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.D1286E|DOCK2_uc003mah.2_Missense_Mutation_p.D350E	p.D1794E	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		51	5462	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1794					Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.5382C>A	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.211386	0.79240	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.09817	3.62;3.23;2.94	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.15998	0.0385	N	0.19112	0.55	0.28732	N	0.902464	P;D;P	0.76494	0.877;0.999;0.622	B;D;B	0.78314	0.315;0.991;0.235	T	0.05022	-1.0911	10	0.32370	T	0.25	.	9.4612	0.38785	0.0:0.9025:0.0:0.0975	.	1286;350;1794	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	E	1794;1286;855	ENSP00000256935:D1794E;ENSP00000429283:D1286E;ENSP00000438827:D855E	ENSP00000256935:D1794E	D	+	3	2	DOCK2	169441518	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.518000	0.35877	2.368000	0.80403	0.655000	0.94253	GAC		0.542	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		5	38	1	0	0.000602214	0.000643315	5	38				
RANBP17	64901	broad.mit.edu	37	5	170668104	170668104	+	Silent	SNP	T	T	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr5:170668104T>G	ENST00000523189.1	+	23	2759	c.2595T>G	c.(2593-2595)gcT>gcG	p.A865A	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	865					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TACTCCAGGCTTTTGTCAAAA	0.438			T	TRD@	ALL																																	uc003mba.2		NA		Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		0				ovary(2)|central_nervous_system(1)	3						c.(2593-2595)GCT>GCG		RAN binding protein 17							183.0	176.0	178.0					5																	170668104		2203	4300	6503	SO:0001819	synonymous_variant	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170668104T>G	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.2595T>G	5.37:g.170668104T>G						RANBP17_uc003mbb.2_Silent_p.A190A|RANBP17_uc003mbd.2_Silent_p.A228A|RANBP17_uc010jjs.2_RNA	p.A865A	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		23	2611	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	865					Q8IU74	Silent	SNP	ENST00000523189.1	37	c.2595T>G	CCDS34287.1																																																																																				0.438	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		32	96	0	0	0	0	32	96				
DDX41	51428	broad.mit.edu	37	5	176939861	176939861	+	Missense_Mutation	SNP	T	T	C	rs35272017		TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr5:176939861T>C	ENST00000507955.1	-	13	1842	c.1319A>G	c.(1318-1320)gAg>gGg	p.E440G	DOK3_ENST00000312943.6_5'Flank|DOK3_ENST00000377112.4_5'Flank|DOK3_ENST00000501403.2_5'Flank|DDX41_ENST00000506965.1_5'Flank	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	440	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	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;0.191)			TGCCTTCTTCTCTGCAAAGAT	0.607																																						uc003mho.2		NA																	0					0						c.(1318-1320)GAG>GGG		DEAD-box protein abstrakt							124.0	104.0	111.0					5																	176939861		2203	4300	6503	SO:0001583	missense	51428				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding	g.chr5:176939861T>C	AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"""DEAD-boxes"""	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.1319A>G	5.37:g.176939861T>C	ENSP00000422753:p.Glu440Gly					DOK3_uc003mhi.3_5'Flank|DOK3_uc003mhj.3_5'Flank|DOK3_uc003mhl.2_5'Flank|DDX41_uc003mhm.2_Missense_Mutation_p.E220G|DDX41_uc003mhn.2_Missense_Mutation_p.E309G|DDX41_uc003mhp.2_Missense_Mutation_p.E309G|DDX41_uc003mhq.1_Missense_Mutation_p.E220G	p.E440G	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		13	1340	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	440			Helicase C-terminal.		B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Missense_Mutation	SNP	ENST00000507955.1	37	c.1319A>G	CCDS4427.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.903065	0.92035	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	D;D	0.92595	-3.07;-3.07	5.77	5.77	0.91146	Helicase, C-terminal (1);	0.170875	0.50627	D	0.000102	D	0.92338	0.7569	L	0.27975	0.815	0.80722	D	1	D;D	0.71674	0.994;0.998	P;P	0.61592	0.767;0.891	D	0.93033	0.6450	10	0.52906	T	0.07	-26.5417	16.0892	0.81080	0.0:0.0:0.0:1.0	.	314;440	B3KRK2;Q9UJV9	.;DDX41_HUMAN	G	458;440	ENSP00000330349:E458G;ENSP00000422753:E440G	ENSP00000330349:E458G	E	-	2	0	DDX41	176872467	1.000000	0.71417	0.985000	0.45067	0.975000	0.68041	7.900000	0.87376	2.208000	0.71279	0.454000	0.30748	GAG		0.607	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253432.2	NM_016222		11	68	0	0	0	0	11	68				
HIST1H1T	3010	broad.mit.edu	37	6	26107762	26107762	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr6:26107762G>A	ENST00000338379.4	-	1	602	c.560C>T	c.(559-561)gCt>gTt	p.A187V		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	187					binding of sperm to zona pellucida (GO:0007339)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|nucleosome assembly (GO:0006334)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						TGACTTCGAAGCCCTTGCCTT	0.468																																						uc003ngj.2		NA																	0				ovary(2)	2						c.(559-561)GCT>GTT		histone cluster 1, H1t							134.0	125.0	128.0					6																	26107762		2203	4300	6503	SO:0001583	missense	3010				cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding	g.chr6:26107762G>A	M60094	CCDS34349.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000187475	ENSG00000187475		"""Histones / Replication-dependent"""	4720	protein-coding gene	gene with protein product		142712	"""H1 histone family, member T (testis-specific)"", ""histone 1, H1t"""	H1FT		8175896, 12408966	Standard	NM_005323		Approved	H1t	uc003ngj.3	P22492	OTTHUMG00000014430	ENST00000338379.4:c.560C>T	6.37:g.26107762G>A	ENSP00000341214:p.Ala187Val						p.A187V	NM_005323	NP_005314	P22492	H1T_HUMAN			1	603	-			187					Q6ISI1|Q8IUE8	Missense_Mutation	SNP	ENST00000338379.4	37	c.560C>T	CCDS34349.1	.	.	.	.	.	.	.	.	.	.	.	12.13	1.844470	0.32606	.	.	ENSG00000187475	ENST00000338379	T	0.06142	3.34	4.82	0.899	0.19271	.	0.660669	0.13356	N	0.394055	T	0.00998	0.0033	N	0.08118	0	0.09310	N	1	B	0.24721	0.11	B	0.21917	0.037	T	0.46857	-0.9161	10	0.49607	T	0.09	-0.1174	6.9936	0.24769	0.1514:0.2653:0.5833:0.0	.	187	P22492	H1T_HUMAN	V	187	ENSP00000341214:A187V	ENSP00000341214:A187V	A	-	2	0	HIST1H1T	26215741	0.003000	0.15002	0.000000	0.03702	0.005000	0.04900	1.390000	0.34464	-0.022000	0.13986	0.655000	0.94253	GCT		0.468	HIST1H1T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040093.2	NM_005323		20	99	0	0	0	0	20	99				
HIST1H2AL	8332	broad.mit.edu	37	6	27833180	27833180	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr6:27833180G>A	ENST00000357320.2	+	1	147	c.48G>A	c.(46-48)aaG>aaA	p.K16K		NM_003511.2	NP_003502.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	16						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						CCAAAGCCAAGACCCGCTCTT	0.637																																						uc003njw.2		NA																	0					0						c.(46-48)AAG>AAA		histone cluster 1, H2al							80.0	90.0	86.0					6																	27833180		2203	4300	6503	SO:0001819	synonymous_variant	8332				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27833180G>A	X83549	CCDS4634.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198374	ENSG00000276903		"""Histones / Replication-dependent"""	4730	protein-coding gene	gene with protein product		602793	"""H2A histone family, member I"", ""histone 1, H2al"""	H2AFI		9439656, 9031620, 12408966	Standard	NM_003511		Approved	H2A/i, dJ193B12.9	uc003njw.3	P0C0S8	OTTHUMG00000014492	ENST00000357320.2:c.48G>A	6.37:g.27833180G>A							p.K16K	NM_003511	NP_003502	P0C0S8	H2A1_HUMAN			1	74	+			16					P02261|Q2M1R2|Q76PA6	Silent	SNP	ENST00000357320.2	37	c.48G>A	CCDS4634.1																																																																																				0.637	HIST1H2AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040160.1	NM_003511		13	101	0	0	0	0	13	101				
PGBD1	84547	broad.mit.edu	37	6	28268549	28268549	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr6:28268549G>A	ENST00000405948.2	+	7	1338	c.918G>A	c.(916-918)agG>agA	p.R306R	PGBD1_ENST00000259883.3_Silent_p.R306R	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	306						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						CTACTGAAAGGACAGTTGCAC	0.448																																						uc003nky.2		NA																	0				ovary(4)	4						c.(916-918)AGG>AGA		piggyBac transposable element derived 1							73.0	72.0	72.0					6																	28268549		2203	4300	6503	SO:0001819	synonymous_variant	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28268549G>A	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.918G>A	6.37:g.28268549G>A						PGBD1_uc003nkz.2_Silent_p.R306R	p.R306R	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN			7	1288	+			306					Q53F43|Q6NTF5|Q8WWS4	Silent	SNP	ENST00000405948.2	37	c.918G>A	CCDS4648.1																																																																																				0.448	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			4	53	0	0	0	0	4	53				
OR12D3	81797	broad.mit.edu	37	6	29342160	29342160	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr6:29342160T>G	ENST00000396806.3	-	1	908	c.905A>C	c.(904-906)aAa>aCa	p.K302T	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	302						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(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						ACCAAAGATTTTCTTCAGAGC	0.428																																						uc003nme.2		NA																	0				ovary(2)|breast(1)	3						c.(904-906)AAA>ACA		olfactory receptor, family 12, subfamily D,							154.0	162.0	159.0					6																	29342160		1511	2709	4220	SO:0001583	missense	81797				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29342160T>G		CCDS4658.1	6p22.1	2013-09-24			ENSG00000112462	ENSG00000112462		"""GPCR / Class A : Olfactory receptors"""	13963	protein-coding gene	gene with protein product							Standard	NM_030959		Approved	hs6M1-27	uc003nme.3	Q9UGF7	OTTHUMG00000031051	ENST00000396806.3:c.905A>C	6.37:g.29342160T>G	ENSP00000380023:p.Lys302Thr						p.K302T	NM_030959	NP_112221	Q9UGF7	O12D3_HUMAN			1	909	-			302			Cytoplasmic (Potential).		A2BDZ1|Q5SQI8|Q6IF23	Missense_Mutation	SNP	ENST00000396806.3	37	c.905A>C	CCDS4658.1	.	.	.	.	.	.	.	.	.	.	T	13.05	2.120211	0.37436	.	.	ENSG00000112462	ENST00000377143;ENST00000396806	T	0.42131	0.98	4.19	-1.21	0.09524	.	.	.	.	.	T	0.15305	0.0369	L	0.55017	1.72	0.09310	N	1	B	0.14012	0.009	B	0.14578	0.011	T	0.35276	-0.9795	9	0.59425	D	0.04	-7.3034	5.1036	0.14772	0.0:0.2459:0.1438:0.6103	.	302	Q9UGF7	O12D3_HUMAN	T	302	ENSP00000380023:K302T	ENSP00000366348:K302T	K	-	2	0	OR12D3	29450139	0.828000	0.29307	0.010000	0.14722	0.501000	0.33797	0.545000	0.23268	-0.392000	0.07751	0.172000	0.16884	AAA		0.428	OR12D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076056.3			4	132	0	0	0	0	4	132				
COL11A2	1302	broad.mit.edu	37	6	33156845	33156845	+	Missense_Mutation	SNP	C	C	G	rs41268014	byFrequency	TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr6:33156845C>G	ENST00000374708.4	-	3	611	c.353G>C	c.(352-354)cGa>cCa	p.R118P	COL11A2_ENST00000395194.1_Missense_Mutation_p.R118P|COL11A2_ENST00000374714.1_Missense_Mutation_p.R118P|COL11A2_ENST00000395197.1_Missense_Mutation_p.R118P|COL11A2_ENST00000374713.1_Missense_Mutation_p.R118P|COL11A2_ENST00000357486.1_Missense_Mutation_p.R118P|COL11A2_ENST00000361917.1_Missense_Mutation_p.R118P|COL11A2_ENST00000341947.2_Missense_Mutation_p.R118P|COL11A2_ENST00000374712.1_Missense_Mutation_p.R118P	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	118	Laminin G-like.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GCGGACAGGTCGGCCCAGCTC	0.617													C|||	4	0.000798722	0.0	0.0	5008	,	,		16970	0.0		0.004	False		,,,				2504	0.0				Melanoma(1;90 116 3946 5341 17093)	uc003ocx.1		NA																	0				ovary(3)|skin(2)	5						c.(352-354)CGA>CCA		collagen, type XI, alpha 2 isoform 1		C	PRO/ARG,PRO/ARG,PRO/ARG,PRO/ARG	1,4405		0,1,2202	63.0	73.0	69.0		353,353,353,353	2.6	1.0	6	dbSNP_127	69	12,8588	9.1+/-34.3	0,12,4288	yes	missense,missense,missense,missense	COL11A2	NM_001163771.1,NM_080679.2,NM_080680.2,NM_080681.2	103,103,103,103	0,13,6490	GG,GC,CC		0.1395,0.0227,0.1	probably-damaging,probably-damaging,probably-damaging,probably-damaging	118/291,118/1630,118/1737,118/1651	33156845	13,12993	2203	4300	6503	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33156845C>G	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.353G>C	6.37:g.33156845C>G	ENSP00000363840:p.Arg118Pro					COL11A2_uc003ocy.1_Missense_Mutation_p.R118P|COL11A2_uc003ocz.1_Missense_Mutation_p.R118P|COL11A2_uc003oda.2_Missense_Mutation_p.R118P	p.R118P	NM_080680	NP_542411	P13942	COBA2_HUMAN			3	581	-			118			TSP N-terminal.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.353G>C	CCDS43452.1	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	C	12.82	2.053850	0.36277	2.27E-4	0.001395	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917;ENST00000457788;ENST00000395194	T;T;T;T;T;T;T;T;T;T	0.02236	4.38;4.38;4.38;4.38;4.38;4.38;4.38;4.38;4.38;4.38	3.45	2.58	0.30949	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.079457	0.50627	D	0.000107	T	0.03263	0.0095	M	0.74647	2.275	0.41164	D	0.986117	D;D;D;D	0.71674	0.996;0.986;0.995;0.998	P;P;P;P	0.61592	0.86;0.708;0.708;0.891	T	0.50566	-0.8813	10	0.31617	T	0.26	.	5.5514	0.17093	0.0:0.7493:0.0:0.2507	rs41268014	118;118;118;118	Q7Z6C3;P13942-8;P13942-6;P13942	.;.;.;COBA2_HUMAN	P	118	ENSP00000363840:R118P;ENSP00000339915:R118P;ENSP00000350079:R118P;ENSP00000363846:R118P;ENSP00000363845:R118P;ENSP00000378623:R118P;ENSP00000363844:R118P;ENSP00000355123:R118P;ENSP00000405520:R118P;ENSP00000378620:R118P	ENSP00000339915:R118P	R	-	2	0	COL11A2	33264823	0.382000	0.25148	0.991000	0.47740	0.993000	0.82548	1.060000	0.30530	1.001000	0.39076	0.551000	0.68910	CGA		0.617	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			4	84	0	0	0	0	4	84				
SLC26A8	116369	broad.mit.edu	37	6	35919038	35919038	+	Missense_Mutation	SNP	C	C	T	rs115071158		TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr6:35919038C>T	ENST00000490799.1	-	19	2727	c.2374G>A	c.(2374-2376)Gtg>Atg	p.V792M	SLC26A8_ENST00000394602.2_Missense_Mutation_p.V687M|SLC26A8_ENST00000355574.2_Missense_Mutation_p.V792M	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8									p.V792M(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GCAAACAGCACGGCGTCGTGA	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		18466	0.0		0.001	False		,,,				2504	0.0					uc003olm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2374-2376)GTG>ATG		solute carrier family 26, member 8 isoform a		C	MET/VAL,MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	117.0	102.0	107.0		2374,2374,2059	4.9	0.9	6	dbSNP_132	107	0,8600		0,0,4300	no	missense,missense,missense	SLC26A8	NM_001193476.1,NM_052961.3,NM_138718.2	21,21,21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign	792/971,792/971,687/866	35919038	1,13005	2203	4300	6503	SO:0001583	missense	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35919038C>T	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.2374G>A	6.37:g.35919038C>T	ENSP00000417638:p.Val792Met					SLC26A8_uc010jwa.2_RNA|SLC26A8_uc003olk.2_Missense_Mutation_p.V374M|SLC26A8_uc003oln.2_Missense_Mutation_p.V792M|SLC26A8_uc003oll.2_Missense_Mutation_p.V687M	p.V792M	NM_052961	NP_443193	Q96RN1	S26A8_HUMAN			19	2485	-			792			Interaction with RACGAP1.|STAS.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000490799.1	37	c.2374G>A	CCDS4813.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.09	1.832364	0.32421	2.27E-4	0.0	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.98075	-4.33;-4.7;-4.33	5.75	4.88	0.63580	Sulphate transporter/antisigma-factor antagonist STAS (1);	0.243932	0.29218	N	0.012783	D	0.92420	0.7594	L	0.41961	1.31	0.30441	N	0.776239	P;P;P	0.43352	0.462;0.454;0.804	B;B;B	0.38378	0.058;0.086;0.272	D	0.89582	0.3821	10	0.52906	T	0.07	.	10.9472	0.47308	0.0:0.9135:0.0:0.0865	.	792;687;374	Q96RN1;Q96RN1-2;Q96RN1-3	S26A8_HUMAN;.;.	M	792;687;792	ENSP00000417638:V792M;ENSP00000378100:V687M;ENSP00000347778:V792M	ENSP00000347778:V792M	V	-	1	0	SLC26A8	36027016	0.946000	0.32159	0.924000	0.36721	0.378000	0.30076	1.860000	0.39428	1.428000	0.47296	-0.137000	0.14449	GTG		0.488	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			12	50	0	0	0	0	12	50				
TCTE1	202500	broad.mit.edu	37	6	44253954	44253954	+	Missense_Mutation	SNP	G	G	A	rs374735103		TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr6:44253954G>A	ENST00000371505.4	-	3	715	c.593C>T	c.(592-594)cCg>cTg	p.P198L	TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_Missense_Mutation_p.P45L|RP11-444E17.6_ENST00000505802.1_Intron|TCTE1_ENST00000371503.3_Missense_Mutation_p.P45L	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	198										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTGCACCGGCGGAAGGAACTG	0.657																																						uc003oxi.2		NA																	0				ovary(2)|skin(2)	4						c.(592-594)CCG>CTG		t-complex-associated testis expressed 1		G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	41.0	42.0	42.0		593	4.7	0.8	6		42	0,8600		0,0,4300	no	missense	TCTE1	NM_182539.3	98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	198/502	44253954	1,13005	2203	4300	6503	SO:0001583	missense	202500							g.chr6:44253954G>A	BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.593C>T	6.37:g.44253954G>A	ENSP00000360560:p.Pro198Leu					SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	p.P198L	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		3	749	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		198					B4DX59|Q8IYS6	Missense_Mutation	SNP	ENST00000371505.4	37	c.593C>T	CCDS4910.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.898983	0.72754	2.27E-4	0.0	ENSG00000146221	ENST00000371505;ENST00000371503;ENST00000371504	T;T;T	0.62498	1.83;0.02;0.02	4.7	4.7	0.59300	.	0.103999	0.64402	D	0.000002	T	0.71213	0.3313	M	0.83223	2.63	0.80722	D	1	D	0.65815	0.995	P	0.54238	0.746	T	0.78445	-0.2201	10	0.87932	D	0	-24.9974	17.6208	0.88080	0.0:0.0:1.0:0.0	.	198	Q5JU00	TCTE1_HUMAN	L	198;45;45	ENSP00000360560:P198L;ENSP00000360558:P45L;ENSP00000360559:P45L	ENSP00000360558:P45L	P	-	2	0	TCTE1	44361932	1.000000	0.71417	0.830000	0.32933	0.399000	0.30720	7.220000	0.78008	2.157000	0.67596	0.462000	0.41574	CCG		0.657	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	NM_182539		6	33	0	0	0	0	6	33				
MDN1	23195	broad.mit.edu	37	6	90482425	90482425	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr6:90482425G>A	ENST00000369393.3	-	14	2065	c.1950C>T	c.(1948-1950)ttC>ttT	p.F650F	MDN1_ENST00000428876.1_Silent_p.F650F			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	650					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTGTAGCAGCGAAAGTGAACT	0.498																																						uc003pnn.1		NA																	0				ovary(8)|skin(2)	10						c.(1948-1950)TTC>TTT		MDN1, midasin homolog							78.0	81.0	80.0					6																	90482425		2203	4300	6503	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90482425G>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.1950C>T	6.37:g.90482425G>A						MDN1_uc003pno.1_Silent_p.F68F	p.F650F	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	14	2066	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	650					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.1950C>T	CCDS5024.1																																																																																				0.498	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			10	51	0	0	0	0	10	51				
GPR63	81491	broad.mit.edu	37	6	97246956	97246956	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr6:97246956G>A	ENST00000229955.3	-	2	997	c.652C>T	c.(652-654)Ccc>Tcc	p.P218S	GPR63_ENST00000417980.1_Missense_Mutation_p.P218S	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	218						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		TGCAGGTCGGGGTTTCCTACG	0.463																																						uc010kcl.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(652-654)CCC>TCC		G protein-coupled receptor 63							74.0	76.0	76.0					6																	97246956		2203	4300	6503	SO:0001583	missense	81491					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr6:97246956G>A	AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"""GPCR / Class A : Orphans"""	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.652C>T	6.37:g.97246956G>A	ENSP00000229955:p.Pro218Ser					GPR63_uc003pou.2_Missense_Mutation_p.P218S	p.P218S	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0912)	3	1130	-		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)	218			Extracellular (Potential).		Q9UJH3	Missense_Mutation	SNP	ENST00000229955.3	37	c.652C>T	CCDS5036.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.096449	0.36952	.	.	ENSG00000112218	ENST00000536583;ENST00000417980;ENST00000229955;ENST00000369268	T;T;T	0.70399	-0.48;-0.48;-0.48	5.3	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.43233	0.1238	N	0.24115	0.695	0.80722	D	1	B	0.32862	0.387	B	0.35859	0.212	T	0.43360	-0.9396	10	0.20046	T	0.44	-6.0281	15.6871	0.77421	0.0:0.0:0.8619:0.1381	.	218	Q9BZJ6	GPR63_HUMAN	S	242;218;218;218	ENSP00000393170:P218S;ENSP00000229955:P218S;ENSP00000358273:P218S	ENSP00000229955:P218S	P	-	1	0	GPR63	97353677	1.000000	0.71417	0.848000	0.33437	0.870000	0.49936	9.420000	0.97426	1.362000	0.46000	0.650000	0.86243	CCC		0.463	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041566.2			11	52	0	0	0	0	11	52				
SYNE1	23345	broad.mit.edu	37	6	152651117	152651117	+	Silent	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr6:152651117C>T	ENST00000367255.5	-	78	15304	c.14703G>A	c.(14701-14703)agG>agA	p.R4901R	SYNE1_ENST00000448038.1_Silent_p.R4830R|SYNE1_ENST00000341594.5_Silent_p.R4648R|SYNE1_ENST00000265368.4_Silent_p.R4901R|SYNE1_ENST00000423061.1_Silent_p.R4830R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4901					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTTCACTCTCCTCAGCCAGT	0.517										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(14701-14703)AGG>AGA		spectrin repeat containing, nuclear envelope 1							124.0	122.0	122.0					6																	152651117		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152651117C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.14703G>A	6.37:g.152651117C>T		HNSCC(10;0.0054)				SYNE1_uc003qot.3_Silent_p.R4830R|SYNE1_uc003qou.3_Silent_p.R4901R|SYNE1_uc010kiz.2_Silent_p.R656R	p.R4901R	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	78	15305	-		Ovarian(120;0.0955)	4901			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.14703G>A	CCDS5236.2																																																																																				0.517	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		23	59	0	0	0	0	23	59				
ZNF716	441234	broad.mit.edu	37	7	57528634	57528634	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr7:57528634C>T	ENST00000420713.1	+	4	579	c.467C>T	c.(466-468)aCa>aTa	p.T156I		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	156					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(20)|ovary(2)	24						CAAAACAAAACATTTCAGACT	0.323																																						uc011kdi.1		NA																	0				ovary(2)	2						c.(466-468)ACA>ATA		zinc finger protein 716							160.0	148.0	152.0					7																	57528634		692	1591	2283	SO:0001583	missense	441234							g.chr7:57528634C>T	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"""Zinc fingers, C2H2-type"", ""-"""	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.467C>T	7.37:g.57528634C>T	ENSP00000394248:p.Thr156Ile						p.T156I	NM_001159279	NP_001152751					4	579	+									Missense_Mutation	SNP	ENST00000420713.1	37	c.467C>T	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.250112	0.00022	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.05258	3.47	0.195	-0.39	0.12450	.	.	.	.	.	T	0.01661	0.0053	N	0.01209	-0.955	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39742	-0.9599	9	0.02654	T	1	.	5.3779	0.16176	0.0:0.2898:0.0:0.7102	.	144	A6NP11	ZN716_HUMAN	I	156;144	ENSP00000394248:T156I	ENSP00000387687:T144I	T	+	2	0	ZNF716	57532576	0.135000	0.22499	0.077000	0.20336	0.075000	0.17131	0.746000	0.26275	-2.512000	0.00503	-2.534000	0.00181	ACA		0.323	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		6	10	0	0	0	0	6	10				
ZNF804B	219578	broad.mit.edu	37	7	88963965	88963965	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr7:88963965A>C	ENST00000333190.4	+	4	2278	c.1669A>C	c.(1669-1671)Agt>Cgt	p.S557R		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	557							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTTGGACTACAGTGATTCTGA	0.343										HNSCC(36;0.09)																												uc011khi.1		NA																	0				ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(1669-1671)AGT>CGT		zinc finger protein 804B							43.0	46.0	45.0					7																	88963965		2198	4293	6491	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88963965A>C	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1669A>C	7.37:g.88963965A>C	ENSP00000329638:p.Ser557Arg	HNSCC(36;0.09)					p.S557R	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	2207	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		557					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.1669A>C	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	A	1.469	-0.560255	0.03939	.	.	ENSG00000182348	ENST00000333190	T	0.05025	3.51	5.49	0.497	0.16902	.	1.417680	0.03913	N	0.282284	T	0.04048	0.0113	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.41662	-0.9496	10	0.39692	T	0.17	-0.0186	6.2119	0.20633	0.6801:0.1238:0.1961:0.0	.	557	A4D1E1	Z804B_HUMAN	R	557	ENSP00000329638:S557R	ENSP00000329638:S557R	S	+	1	0	ZNF804B	88801901	0.085000	0.21516	0.000000	0.03702	0.002000	0.02628	1.253000	0.32886	-0.045000	0.13468	-1.170000	0.01741	AGT		0.343	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		7	48	0	0	0	0	7	48				
TRRAP	8295	broad.mit.edu	37	7	98580905	98580905	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr7:98580905G>A	ENST00000359863.4	+	59	9033	c.8824G>A	c.(8824-8826)Gaa>Aaa	p.E2942K	TRRAP_ENST00000446306.3_Missense_Mutation_p.E2924K|TRRAP_ENST00000355540.3_Missense_Mutation_p.E2924K	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2942	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GCAAATCATCGAACTCCAGGA	0.517																																						uc003upp.2		NA																	0				ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(8824-8826)GAA>AAA		transformation/transcription domain-associated							100.0	80.0	87.0					7																	98580905		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98580905G>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.8824G>A	7.37:g.98580905G>A	ENSP00000352925:p.Glu2942Lys					TRRAP_uc011kis.1_Missense_Mutation_p.E2924K|TRRAP_uc003upr.2_Missense_Mutation_p.E2641K	p.E2942K	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		59	9033	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		2942			FAT.		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.8824G>A	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	35	5.499387	0.96355	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	D;D	0.84442	-1.85;-1.85	5.49	5.49	0.81192	PIK-related kinase (1);PIK-related kinase, FAT (1);	0.000000	0.85682	D	0.000000	D	0.94515	0.8234	M	0.93106	3.38	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.95409	0.8496	10	0.87932	D	0	.	19.3593	0.94428	0.0:0.0:1.0:0.0	.	2924;2663;2942	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	K	2942;2924;2923	ENSP00000352925:E2942K;ENSP00000347733:E2924K	ENSP00000347733:E2924K	E	+	1	0	TRRAP	98418841	1.000000	0.71417	0.973000	0.42090	0.940000	0.58332	9.869000	0.99810	2.576000	0.86940	0.655000	0.94253	GAA		0.517	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		6	19	0	0	0	0	6	19				
CUX1	1523	broad.mit.edu	37	7	101559503	101559503	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr7:101559503G>T	ENST00000292535.7	+	2	177	c.139G>T	c.(139-141)Gag>Tag	p.E47*	CUX1_ENST00000437600.4_Nonsense_Mutation_p.E58*|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292538.4_Nonsense_Mutation_p.E58*|CUX1_ENST00000549414.2_Nonsense_Mutation_p.E47*|CUX1_ENST00000550008.2_Nonsense_Mutation_p.E47*|CUX1_ENST00000425244.2_Nonsense_Mutation_p.E58*|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000556210.1_Nonsense_Mutation_p.E47*|CUX1_ENST00000360264.3_Nonsense_Mutation_p.E58*|CUX1_ENST00000546411.2_Nonsense_Mutation_p.E47*|CUX1_ENST00000547394.2_Nonsense_Mutation_p.E58*	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	47					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GAACACTCCAGAGGTGAGGCG	0.532																																						uc003uyx.3		NA																	0				ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(139-141)GAG>TAG		cut-like homeobox 1 isoform a							105.0	95.0	98.0					7																	101559503		2203	4300	6503	SO:0001587	stop_gained	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101559503G>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.139G>T	7.37:g.101559503G>T	ENSP00000292535:p.Glu47*					CUX1_uc003uys.3_Nonsense_Mutation_p.E58*|CUX1_uc003uyt.2_Nonsense_Mutation_p.E58*|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Nonsense_Mutation_p.E58*|CUX1_uc003uyv.2_Nonsense_Mutation_p.E58*|CUX1_uc003uyu.2_Nonsense_Mutation_p.E58*	p.E47*	NM_181552	NP_853530	P39880	CUX1_HUMAN			2	177	+			47			Potential.		B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Nonsense_Mutation	SNP	ENST00000292535.7	37	c.139G>T	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	44	11.118211	0.99518	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000360264;ENST00000393824;ENST00000425244;ENST00000437600;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	.	.	.	5.47	5.47	0.80525	.	0.071179	0.53938	D	0.000046	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-23.1077	17.5093	0.87755	0.0:0.0:1.0:0.0	.	.	.	.	X	58;58;58;58;58;58;47;47;47;47;47	.	ENSP00000292535:E47X	E	+	1	0	CUX1	101346223	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.955000	0.93058	2.570000	0.86706	0.655000	0.94253	GAG		0.532	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		7	55	1	0	0.00198382	0.00209435	7	55				
FBXL13	222235	broad.mit.edu	37	7	102523890	102523890	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr7:102523890G>C	ENST00000313221.4	-	14	1676	c.1250C>G	c.(1249-1251)tCc>tGc	p.S417C	FBXL13_ENST00000455112.2_Missense_Mutation_p.S417C|FBXL13_ENST00000379308.3_Missense_Mutation_p.S417C|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000393772.2_Missense_Mutation_p.S417C|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000436908.1_Missense_Mutation_p.S417C|FBXL13_ENST00000379305.3_Missense_Mutation_p.S417C	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	417										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						AAATTTGAAGGATGCATCAGT	0.343																																						uc003vaq.2		NA																	0					0						c.(1249-1251)TCC>TGC		F-box and leucine-rich repeat protein 13 isoform							89.0	87.0	88.0					7																	102523890		2203	4300	6503	SO:0001583	missense	222235							g.chr7:102523890G>C	BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.1250C>G	7.37:g.102523890G>C	ENSP00000321927:p.Ser417Cys					FBXL13_uc010liq.1_Intron|FBXL13_uc010lir.1_Missense_Mutation_p.S417C|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.S417C	p.S417C	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN			14	1677	-			417			LRR 8.		C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP	ENST00000313221.4	37	c.1250C>G	CCDS5726.1	.	.	.	.	.	.	.	.	.	.	G	8.155	0.788318	0.16258	.	.	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000455112	T;T;T;T;T;T	0.55413	0.56;0.52;0.56;0.54;0.54;0.52	5.27	2.15	0.27550	.	0.259978	0.33127	N	0.005255	T	0.27313	0.0670	N	0.01168	-0.975	0.19775	N	0.999956	B;B;B	0.14805	0.009;0.005;0.011	B;B;B	0.20384	0.029;0.013;0.019	T	0.14559	-1.0468	10	0.33141	T	0.24	.	18.622	0.91324	0.0:0.5537:0.4463:0.0	.	417;417;417	Q8NEE6-3;Q8NEE6-2;Q8NEE6	.;.;FXL13_HUMAN	C	417	ENSP00000377367:S417C;ENSP00000368610:S417C;ENSP00000368607:S417C;ENSP00000388608:S417C;ENSP00000321927:S417C;ENSP00000391550:S417C	ENSP00000321927:S417C	S	-	2	0	FBXL13	102311126	0.996000	0.38824	0.869000	0.34112	0.763000	0.43281	1.156000	0.31712	0.584000	0.29591	-0.165000	0.13383	TCC		0.343	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032		14	37	0	0	0	0	14	37				
RELN	5649	broad.mit.edu	37	7	103138354	103138354	+	Missense_Mutation	SNP	G	G	A	rs114501042	byFrequency	TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr7:103138354G>A	ENST00000428762.1	-	55	9022	c.8863C>T	c.(8863-8865)Cgc>Tgc	p.R2955C	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Missense_Mutation_p.R2955C|RELN_ENST00000343529.5_Missense_Mutation_p.R2955C	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2955					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTACCGATGCGCCCCCAGTAT	0.468													G|||	4	0.000798722	0.0	0.0	5008	,	,		19228	0.004		0.0	False		,,,				2504	0.0				NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(8863-8865)CGC>TGC		reelin isoform a							111.0	85.0	94.0					7																	103138354		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103138354G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.8863C>T	7.37:g.103138354G>A	ENSP00000392423:p.Arg2955Cys					RELN_uc010liz.2_Missense_Mutation_p.R2955C	p.R2955C	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	55	9023	-			2955					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.8863C>T	CCDS47680.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	G	23.3	4.397802	0.83120	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.24723	1.84;1.84;1.84	5.89	3.92	0.45320	Neuraminidase (3);	0.000000	0.85682	D	0.000000	T	0.46328	0.1387	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.982	T	0.42716	-0.9435	10	0.87932	D	0	.	13.3669	0.60689	0.0:0.0:0.6771:0.3229	.	2955;2955	P78509-2;P78509	.;RELN_HUMAN	C	2955;2955;2955;472;2955	ENSP00000392423:R2955C;ENSP00000345694:R2955C;ENSP00000388446:R2955C	ENSP00000345694:R2955C	R	-	1	0	RELN	102925590	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.136000	0.64783	2.793000	0.96121	0.655000	0.94253	CGC		0.468	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		11	37	0	0	0	0	11	37				
TFEC	22797	broad.mit.edu	37	7	115580975	115580975	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr7:115580975A>C	ENST00000265440.7	-	8	854	c.674T>G	c.(673-675)aTt>aGt	p.I225S	TFEC_ENST00000457268.1_Missense_Mutation_p.I158S|TFEC_ENST00000393485.1_3'UTR|TFEC_ENST00000320239.7_Missense_Mutation_p.I196S	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	225					cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			ACGAGCCTGAATTTCTAGTTC	0.388																																						uc003vhj.1		NA																	0				large_intestine(1)	1						c.(673-675)ATT>AGT		transcription factor EC isoform a							68.0	70.0	69.0					7																	115580975		2199	4299	6498	SO:0001583	missense	22797					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr7:115580975A>C	D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"""Basic helix-loop-helix proteins"""	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.674T>G	7.37:g.115580975A>C	ENSP00000265440:p.Ile225Ser					TFEC_uc003vhk.1_Missense_Mutation_p.I196S|TFEC_uc003vhl.3_3'UTR|TFEC_uc011kmw.1_3'UTR	p.I225S	NM_012252	NP_036384	O14948	TFEC_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		8	858	-			225					B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Missense_Mutation	SNP	ENST00000265440.7	37	c.674T>G	CCDS5762.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.215898	0.79352	.	.	ENSG00000105967	ENST00000265440;ENST00000457268;ENST00000320239	T;T;T	0.67171	-0.25;-0.25;-0.25	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.78097	0.4230	M	0.73598	2.24	0.80722	D	1	D;P	0.54397	0.966;0.943	P;P	0.58210	0.819;0.835	T	0.79174	-0.1912	10	0.44086	T	0.13	-14.1007	15.3803	0.74651	1.0:0.0:0.0:0.0	.	196;225	O14948-2;O14948	.;TFEC_HUMAN	S	225;158;196	ENSP00000265440:I225S;ENSP00000387650:I158S;ENSP00000318676:I196S	ENSP00000265440:I225S	I	-	2	0	TFEC	115368211	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.014000	0.76380	2.097000	0.63578	0.528000	0.53228	ATT		0.388	TFEC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059839.4	NM_012252		9	61	0	0	0	0	9	61				
FEZF1	389549	broad.mit.edu	37	7	121943895	121943895	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr7:121943895G>A	ENST00000442488.2	-	1	664	c.597C>T	c.(595-597)gcC>gcT	p.A199A	FEZF1-AS1_ENST00000428449.1_RNA|FEZF1-AS1_ENST00000437317.1_RNA|FEZF1_ENST00000427185.2_Silent_p.A149A|FEZF1_ENST00000331178.4_Silent_p.A199A	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	199					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						TATTCCTTTCGGCTAAATACG	0.557																																						uc003vkd.2		NA																	0				ovary(2)|breast(1)	3						c.(595-597)GCC>GCT		FEZ family zinc finger 1 isoform 1							38.0	42.0	41.0					7																	121943895		2203	4300	6503	SO:0001819	synonymous_variant	389549				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:121943895G>A	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.597C>T	7.37:g.121943895G>A						FEZF1_uc003vkc.2_Silent_p.A149A|uc010lko.1_RNA|uc003vkf.1_5'Flank	p.A199A	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN			1	671	-			199					A0PJY3|A4D0W3|B4DUP9|B7ZM98	Silent	SNP	ENST00000442488.2	37	c.597C>T	CCDS34741.2																																																																																				0.557	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613		4	42	0	0	0	0	4	42				
GRM8	2918	broad.mit.edu	37	7	126882949	126882949	+	Missense_Mutation	SNP	C	C	G	rs147289844		TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr7:126882949C>G	ENST00000339582.2	-	2	1118	c.310G>C	c.(310-312)Gac>Cac	p.D104H	GRM8_ENST00000405249.1_Missense_Mutation_p.D104H|GRM8_ENST00000444921.2_Missense_Mutation_p.D104H|GRM8_ENST00000358373.3_Missense_Mutation_p.D104H			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	104					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GAGCACGTGTCGAGGATGCGG	0.478										HNSCC(24;0.065)																												uc003vlr.2		NA																	0				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(310-312)GAC>CAC		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						119.0	94.0	102.0					7																	126882949		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126882949C>G		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.310G>C	7.37:g.126882949C>G	ENSP00000344173:p.Asp104His	HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.D104H|GRM8_uc010lkz.1_RNA	p.D104H	NM_000845	NP_000836	O00222	GRM8_HUMAN			1	621	-		Prostate(267;0.186)	104			Extracellular (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.310G>C	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269859	0.80469	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249;ENST00000457830	D;D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21;-2.21	6.06	6.06	0.98353	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.96065	0.8718	H	0.96398	3.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96611	0.9452	10	0.87932	D	0	.	19.6279	0.95687	0.0:1.0:0.0:0.0	.	104;104	O00222-2;O00222	.;GRM8_HUMAN	H	104	ENSP00000344173:D104H;ENSP00000409790:D104H;ENSP00000351142:D104H;ENSP00000385731:D104H;ENSP00000415522:D104H	ENSP00000344173:D104H	D	-	1	0	GRM8	126670185	1.000000	0.71417	0.991000	0.47740	0.978000	0.69477	7.818000	0.86416	2.880000	0.98712	0.650000	0.86243	GAC		0.478	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			11	39	0	0	0	0	11	39				
GRM8	2918	broad.mit.edu	37	7	126883115	126883115	+	Silent	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr7:126883115C>T	ENST00000339582.2	-	2	952	c.144G>A	c.(142-144)ttG>ttA	p.L48L	GRM8_ENST00000405249.1_Silent_p.L48L|GRM8_ENST00000444921.2_Silent_p.L48L|GRM8_ENST00000358373.3_Silent_p.L48L			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	48					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				AGAGACCCCCCAAAATAATGT	0.527										HNSCC(24;0.065)																												uc003vlr.2		NA																	0				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(142-144)TTG>TTA		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						92.0	90.0	91.0					7																	126883115		2203	4300	6503	SO:0001819	synonymous_variant	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126883115C>T		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.144G>A	7.37:g.126883115C>T		HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.L48L|GRM8_uc010lkz.1_RNA	p.L48L	NM_000845	NP_000836	O00222	GRM8_HUMAN			1	455	-		Prostate(267;0.186)	48			Extracellular (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	c.144G>A	CCDS5794.1																																																																																				0.527	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			13	84	0	0	0	0	13	84				
ERICH1	157697	broad.mit.edu	37	8	614671	614671	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr8:614671C>T	ENST00000262109.7	-	6	1341	c.1264G>A	c.(1264-1266)Gcc>Acc	p.A422T	ERICH1_ENST00000522706.1_Intron	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	422										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		ATTACTCTGGCATGGTCTAGA	0.348																																						uc003wph.2		NA																	0				large_intestine(2)	2						c.(1264-1266)GCC>ACC		glutamate-rich 1							84.0	87.0	86.0					8																	614671		2203	4300	6503	SO:0001583	missense	157697							g.chr8:614671C>T		CCDS5955.1	8p23.3	2005-09-01			ENSG00000104714	ENSG00000104714			27234	protein-coding gene	gene with protein product							Standard	NM_207332		Approved		uc003wph.3	Q86X53	OTTHUMG00000129163	ENST00000262109.7:c.1264G>A	8.37:g.614671C>T	ENSP00000262109:p.Ala422Thr					ERICH1_uc011kwh.1_Intron|ERICH1_uc003wpe.1_Intron	p.A422T	NM_207332	NP_997215	Q86X53	ERIC1_HUMAN		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)	6	1329	-		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)	422					A8K2J9|Q9P063	Missense_Mutation	SNP	ENST00000262109.7	37	c.1264G>A	CCDS5955.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.746616	0.49257	.	.	ENSG00000104714	ENST00000262109	T	0.33438	1.41	5.88	2.99	0.34606	.	0.249881	0.31589	N	0.007386	T	0.23410	0.0566	L	0.40543	1.245	0.18873	N	0.999984	P	0.37370	0.592	B	0.41271	0.352	T	0.07673	-1.0760	10	0.29301	T	0.29	-10.7712	4.7087	0.12861	0.1728:0.6511:0.0:0.1761	.	422	Q86X53	ERIC1_HUMAN	T	422	ENSP00000262109:A422T	ENSP00000262109:A422T	A	-	1	0	ERICH1	604671	0.880000	0.30214	0.628000	0.29241	0.931000	0.56810	0.375000	0.20518	0.832000	0.34804	0.655000	0.94253	GCC		0.348	ERICH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251228.3	NM_207332		4	43	0	0	0	0	4	43				
TRIM35	23087	broad.mit.edu	37	8	27146779	27146779	+	Missense_Mutation	SNP	C	C	A	rs527461852	byFrequency	TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr8:27146779C>A	ENST00000305364.4	-	5	887	c.804G>T	c.(802-804)gaG>gaT	p.E268D	TRIM35_ENST00000521253.1_Missense_Mutation_p.A229S	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	268					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		CTGGCTCTGGCTCCATGGTGC	0.567																																						uc003xfl.1		NA																	0					0						c.(802-804)GAG>GAT		tripartite motif-containing 35 isoform 2							78.0	67.0	71.0					8																	27146779		2203	4300	6503	SO:0001583	missense	23087				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding	g.chr8:27146779C>A	AB029021	CCDS6056.2	8p21.2	2013-01-09	2011-01-25		ENSG00000104228	ENSG00000104228		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16285	protein-coding gene	gene with protein product			"""tripartite motif-containing 35"""			11331580, 14662771, 12692137	Standard	XM_005273451		Approved	KIAA1098, MAIR, HLS5	uc003xfl.1	Q9UPQ4	OTTHUMG00000102047	ENST00000305364.4:c.804G>T	8.37:g.27146779C>A	ENSP00000301924:p.Glu268Asp					TRIM35_uc010lup.1_Missense_Mutation_p.A229S	p.E268D	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)	5	886	-		Ovarian(32;2.61e-05)	268					Q86XQ0|Q8WVA4	Missense_Mutation	SNP	ENST00000305364.4	37	c.804G>T	CCDS6056.2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	18.28|18.28|18.28	3.589213|3.589213|3.589213	0.66105|0.66105|0.66105	.|.|.	.|.|.	ENSG00000104228|ENSG00000104228|ENSG00000104228	ENST00000521253|ENST00000305364;ENST00000380544|ENST00000521283	T|T|.	0.64991|0.64438|.	-0.13|-0.1|.	5.95|5.95|5.95	4.17|4.17|4.17	0.49024|0.49024|0.49024	.|.|.	.|0.000000|.	.|0.64402|.	.|D|.	.|0.000003|.	T|T|T	0.43478|0.43478|0.43478	0.1249|0.1249|0.1249	L|L|L	0.52759|0.52759|0.52759	1.655|1.655|1.655	0.22034|0.22034|0.22034	N|N|N	0.999409|0.999409|0.999409	P|D|.	0.36086|0.76494|.	0.536|0.999|.	B|D|.	0.32090|0.65874|.	0.14|0.939|.	T|T|T	0.27157|0.27157|0.27157	-1.0082|-1.0082|-1.0082	9|10|5	0.08381|0.13853|.	T|T|.	0.77|0.58|.	.|.|.	9.48|9.48|9.48	0.38895|0.38895|0.38895	0.0:0.8367:0.0:0.1633|0.0:0.8367:0.0:0.1633|0.0:0.8367:0.0:0.1633	.|.|.	229|268|.	E5RGB3|Q9UPQ4|.	.|TRI35_HUMAN|.	S|D|I	229|268|33	ENSP00000428770:A229S|ENSP00000301924:E268D|.	ENSP00000428770:A229S|ENSP00000301924:E268D|.	A|E|S	-|-|-	1|3|2	0|2|0	TRIM35|TRIM35|TRIM35	27202696|27202696|27202696	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.773000|0.773000|0.773000	0.43773|0.43773|0.43773	1.640000|1.640000|1.640000	0.37186|0.37186|0.37186	0.858000|0.858000|0.858000	0.35431|0.35431|0.35431	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GCC|GAG|AGC		0.567	TRIM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219848.2	NM_171982		3	15	1	0	0.004672	0.00487513	3	15				
EYA1	2138	broad.mit.edu	37	8	72211931	72211931	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr8:72211931C>T	ENST00000340726.3	-	8	1220	c.581G>A	c.(580-582)gGa>gAa	p.G194E	EYA1_ENST00000388742.4_Missense_Mutation_p.G194E|EYA1_ENST00000388741.2_Missense_Mutation_p.G160E|EYA1_ENST00000303824.7_Missense_Mutation_p.G188E|EYA1_ENST00000388740.3_Missense_Mutation_p.G161E|EYA1_ENST00000388743.2_Missense_Mutation_p.G193E|EYA1_ENST00000419131.1_Missense_Mutation_p.G189E	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	194					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)			TGTATATATTCCTGATGATGT	0.303																																						uc003xys.3		NA																	0				ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5						c.(580-582)GGA>GAA		eyes absent 1 isoform b							109.0	117.0	114.0					8																	72211931		2202	4298	6500	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.chr8:72211931C>T	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.581G>A	8.37:g.72211931C>T	ENSP00000342626:p.Gly194Glu					EYA1_uc003xyr.3_Missense_Mutation_p.G189E|EYA1_uc003xyt.3_Missense_Mutation_p.G161E|EYA1_uc010lzf.2_Missense_Mutation_p.G121E|EYA1_uc003xyu.2_Missense_Mutation_p.G194E|EYA1_uc011lfe.1_Missense_Mutation_p.G188E|EYA1_uc003xyv.2_Missense_Mutation_p.G72E	p.G194E	NM_172058	NP_742055	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)		7	868	-	Breast(64;0.046)		194					A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	37	c.581G>A	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.994339	0.74703	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.91894	-2.61;-2.61;-2.93;-2.6;-2.93;-2.61;-2.56	5.41	4.52	0.55395	.	0.047496	0.85682	D	0.000000	D	0.94814	0.8325	L	0.58810	1.83	0.80722	D	1	D;D;P;D;P	0.89917	1.0;0.975;0.917;1.0;0.917	D;P;P;D;P	0.97110	1.0;0.804;0.713;1.0;0.713	D	0.94025	0.7296	10	0.36615	T	0.2	-13.0932	16.3783	0.83418	0.0:0.8678:0.1322:0.0	.	188;121;161;194;189	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	E	194;194;162;161;188;160;193;189	ENSP00000373394:G194E;ENSP00000342626:G194E;ENSP00000373392:G161E;ENSP00000303221:G188E;ENSP00000373393:G160E;ENSP00000373395:G193E;ENSP00000410176:G189E	ENSP00000303221:G188E	G	-	2	0	EYA1	72374485	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	5.728000	0.68531	1.389000	0.46526	-0.291000	0.09656	GGA		0.303	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		37	55	0	0	0	0	37	55				
ZFHX4	79776	broad.mit.edu	37	8	77764068	77764068	+	Silent	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr8:77764068C>T	ENST00000521891.2	+	10	5359	c.4911C>T	c.(4909-4911)agC>agT	p.S1637S	ZFHX4_ENST00000518282.1_Silent_p.S1611S|ZFHX4_ENST00000455469.2_Silent_p.S1592S|ZFHX4_ENST00000050961.6_Silent_p.S1592S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1592					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GTGGGCACAGCATTGCAGCAA	0.488										HNSCC(33;0.089)																												uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(4774-4776)AGC>AGT		zinc finger homeodomain 4							58.0	58.0	58.0					8																	77764068		1956	4143	6099	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77764068C>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4911C>T	8.37:g.77764068C>T		HNSCC(33;0.089)				ZFHX4_uc003yau.1_Silent_p.S1637S|ZFHX4_uc003yaw.1_Silent_p.S1592S	p.S1592S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	5163	+			1592					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.4776C>T	CCDS47878.2																																																																																				0.488	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		4	45	0	0	0	0	4	45				
PTPRD	5789	broad.mit.edu	37	9	8507393	8507393	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr9:8507393C>G	ENST00000381196.4	-	19	2128	c.1585G>C	c.(1585-1587)Gaa>Caa	p.E529Q	PTPRD_ENST00000540109.1_Missense_Mutation_p.E529Q|PTPRD_ENST00000356435.5_Missense_Mutation_p.E529Q|PTPRD_ENST00000397606.3_Missense_Mutation_p.E519Q|PTPRD_ENST00000397611.3_Missense_Mutation_p.E526Q|PTPRD_ENST00000537002.1_Missense_Mutation_p.E526Q|PTPRD_ENST00000360074.4_Missense_Mutation_p.E516Q|PTPRD_ENST00000358503.5_Missense_Mutation_p.E516Q|PTPRD_ENST00000355233.5_Missense_Mutation_p.E529Q|PTPRD_ENST00000486161.1_Missense_Mutation_p.E529Q|PTPRD_ENST00000397617.3_Missense_Mutation_p.E519Q	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	529	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATACTTGTTTCAGACTCAGGT	0.448										TSP Lung(15;0.13)																												uc003zkk.2		NA																	0				lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(1585-1587)GAA>CAA		protein tyrosine phosphatase, receptor type, D							217.0	198.0	204.0					9																	8507393		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8507393C>G	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1585G>C	9.37:g.8507393C>G	ENSP00000370593:p.Glu529Gln	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Missense_Mutation_p.E529Q|PTPRD_uc003zkq.2_Missense_Mutation_p.E529Q|PTPRD_uc003zkr.2_Missense_Mutation_p.E523Q|PTPRD_uc003zks.2_Missense_Mutation_p.E519Q|PTPRD_uc003zkl.2_Missense_Mutation_p.E529Q|PTPRD_uc003zkm.2_Missense_Mutation_p.E516Q|PTPRD_uc003zkn.2_Missense_Mutation_p.E529Q|PTPRD_uc003zko.2_Missense_Mutation_p.E526Q	p.E529Q	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	21	2296	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	529			Fibronectin type-III 3.|Extracellular (Potential).		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.1585G>C	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.410899	0.83340	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32	6.06	6.06	0.98353	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.73729	0.3624	L	0.54965	1.715	0.80722	D	1	P;P;P;B;B;P;D;D;D	0.76494	0.956;0.862;0.853;0.327;0.067;0.712;0.998;0.999;0.996	P;P;P;B;B;P;D;D;D	0.76071	0.906;0.854;0.646;0.425;0.039;0.535;0.964;0.987;0.986	T	0.68796	-0.5314	9	.	.	.	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	519;523;529;529;526;526;516;529;529	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	Q	529;529;516;516;529;519;526;526;529;529;529;519	ENSP00000370593:E529Q;ENSP00000348812:E529Q;ENSP00000353187:E516Q;ENSP00000351293:E516Q;ENSP00000347373:E529Q;ENSP00000380741:E519Q;ENSP00000380735:E526Q;ENSP00000440515:E526Q;ENSP00000438164:E529Q;ENSP00000417093:E529Q;ENSP00000380731:E519Q	.	E	-	1	0	PTPRD	8497393	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.456000	0.80751	2.880000	0.98712	0.650000	0.86243	GAA		0.448	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			7	261	0	0	0	0	7	261				
FREM1	158326	broad.mit.edu	37	9	14842546	14842546	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr9:14842546G>A	ENST00000380880.3	-	9	2289	c.1506C>T	c.(1504-1506)ggC>ggT	p.G502G	FREM1_ENST00000380881.4_Silent_p.G503G|FREM1_ENST00000422223.2_Silent_p.G502G			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	502					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGCTGTGATGGCCATCAAATA	0.507																																						uc003zlm.2		NA																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(1504-1506)GGC>GGT		FRAS1 related extracellular matrix 1 precursor							135.0	138.0	137.0					9																	14842546		2046	4208	6254	SO:0001819	synonymous_variant	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14842546G>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1506C>T	9.37:g.14842546G>A						FREM1_uc010mic.2_RNA	p.G502G	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	9	2096	-			502			CSPG 2.		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	ENST00000380880.3	37	c.1506C>T	CCDS47952.1																																																																																				0.507	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		10	278	0	0	0	0	10	278				
KIF27	55582	broad.mit.edu	37	9	86495230	86495230	+	Silent	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr9:86495230C>T	ENST00000297814.2	-	11	2768	c.2625G>A	c.(2623-2625)cgG>cgA	p.R875R	KIF27_ENST00000413982.1_Intron|KIF27_ENST00000376347.1_Silent_p.R266R|KIF27_ENST00000334204.2_Silent_p.R875R	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	875					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TTTGCTGGTCCCGCTTAATTA	0.353																																						uc004ana.2		NA																	0				lung(4)|skin(1)	5						c.(2623-2625)CGG>CGA		kinesin family member 27							89.0	76.0	81.0					9																	86495230		2203	4296	6499	SO:0001819	synonymous_variant	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86495230C>T	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.2625G>A	9.37:g.86495230C>T						KIF27_uc010mpw.2_Intron|KIF27_uc010mpx.2_Silent_p.R875R	p.R875R	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN			11	2769	-			875			Potential.		B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Silent	SNP	ENST00000297814.2	37	c.2625G>A	CCDS6665.1																																																																																				0.353	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		4	77	0	0	0	0	4	77				
SECISBP2	79048	broad.mit.edu	37	9	91953402	91953402	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr9:91953402A>T	ENST00000375807.3	+	8	1190	c.1119A>T	c.(1117-1119)gaA>gaT	p.E373D	SECISBP2_ENST00000534113.2_Missense_Mutation_p.E305D|SECISBP2_ENST00000339901.4_Missense_Mutation_p.E300D	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	373					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						GTGACCTTGAACAAAATGAAG	0.333																																						uc004aqj.1		NA																	0				ovary(2)|skin(1)	3						c.(1117-1119)GAA>GAT		SECIS binding protein 2							64.0	68.0	67.0					9																	91953402		2202	4299	6501	SO:0001583	missense	79048				translation	nucleus	mRNA 3'-UTR binding	g.chr9:91953402A>T	AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.1119A>T	9.37:g.91953402A>T	ENSP00000364965:p.Glu373Asp					SECISBP2_uc010mqn.1_Missense_Mutation_p.E334D|SECISBP2_uc004aqi.1_Missense_Mutation_p.E261D|SECISBP2_uc011ltk.1_Missense_Mutation_p.E372D|SECISBP2_uc004aqk.1_Missense_Mutation_p.E300D|SECISBP2_uc010mqo.1_Missense_Mutation_p.E78D|SECISBP2_uc011ltl.1_Missense_Mutation_p.E305D	p.E373D	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN			8	1199	+			373					F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Missense_Mutation	SNP	ENST00000375807.3	37	c.1119A>T	CCDS6683.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.10|17.10	3.302784|3.302784	0.60195|0.60195	.|.	.|.	ENSG00000187742|ENSG00000187742	ENST00000375807;ENST00000395669;ENST00000339901;ENST00000534113;ENST00000425851|ENST00000440898	T;T;T;T|.	0.73897|.	-0.77;-0.79;-0.77;0.81|.	4.79|4.79	-3.13|-3.13	0.05266|0.05266	.|.	0.204155|.	0.42172|.	D|.	0.000754|.	T|T	0.29389|0.29389	0.0732|0.0732	N|N	0.20986|0.20986	0.625|0.625	0.29460|0.29460	N|N	0.857841|0.857841	B;B;B;B;B|.	0.29115|.	0.149;0.149;0.233;0.149;0.233|.	B;B;B;B;B|.	0.25987|.	0.029;0.029;0.065;0.029;0.065|.	T|T	0.43798|0.43798	-0.9369|-0.9369	10|6	0.33940|0.87932	T|D	0.23|0	-25.389|-25.389	6.7629|6.7629	0.23550|0.23550	0.6204:0.1327:0.2469:0.0|0.6204:0.1327:0.2469:0.0	.|.	380;372;300;373;305|.	Q59H19;B4DZC7;Q96T21-2;Q96T21;F8W892|.	.;.;.;SEBP2_HUMAN;.|.	D|I	373;379;300;305;170|53	ENSP00000364965:E373D;ENSP00000364959:E300D;ENSP00000436650:E305D;ENSP00000414288:E170D|.	ENSP00000364959:E300D|ENSP00000411573:N53I	E|N	+|+	3|2	2|0	SECISBP2|SECISBP2	91143222|91143222	0.998000|0.998000	0.40836|0.40836	0.961000|0.961000	0.40146|0.40146	0.889000|0.889000	0.51656|0.51656	0.240000|0.240000	0.18042|0.18042	-0.308000|-0.308000	0.08792|0.08792	0.528000|0.528000	0.53228|0.53228	GAA|AAC		0.333	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	NM_024077		8	60	0	0	0	0	8	60				
FANCC	2176	broad.mit.edu	37	9	97897696	97897696	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr9:97897696C>A	ENST00000289081.3	-	8	1029	c.775G>T	c.(775-777)Gaa>Taa	p.E259*	FANCC_ENST00000375305.1_Nonsense_Mutation_p.E259*	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	259					DNA repair (GO:0006281)|germ cell development (GO:0007281)|myeloid cell homeostasis (GO:0002262)|nucleotide-excision repair (GO:0006289)|protein complex assembly (GO:0006461)|removal of superoxide radicals (GO:0019430)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				ATTAGCTTTTCAAAAAGATGC	0.428			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc004avh.2		NA	yes	Rec		Fanconi anaemia C	9	9q22.3	2176	D|Mis|N|F|S	"""Fanconi anemia, complementation group C"""			L		AML|leukemia			0				kidney(1)	1						c.(775-777)GAA>TAA	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group C							80.0	77.0	78.0					9																	97897696		2203	4300	6503	SO:0001587	stop_gained	2176	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	protein complex assembly	cytosol|nucleoplasm	protein binding	g.chr9:97897696C>A	BC006303	CCDS35071.1, CCDS75861.1	9q22.3	2014-09-17			ENSG00000158169	ENSG00000158169		"""Fanconi anemia, complementation groups"""	3584	protein-coding gene	gene with protein product		613899		FACC		1303234	Standard	NM_001243743		Approved	FAC, FA3	uc004avh.3	Q00597	OTTHUMG00000020279	ENST00000289081.3:c.775G>T	9.37:g.97897696C>A	ENSP00000289081:p.Glu259*					FANCC_uc004avi.3_Nonsense_Mutation_p.E259*	p.E259*	NM_000136	NP_000127	Q00597	FANCC_HUMAN			8	1037	-		Acute lymphoblastic leukemia(62;0.138)	259					B1ALR8	Nonsense_Mutation	SNP	ENST00000289081.3	37	c.775G>T	CCDS35071.1	.	.	.	.	.	.	.	.	.	.	C	40	8.141592	0.98675	.	.	ENSG00000158169	ENST00000289081;ENST00000375305	.	.	.	5.88	4.01	0.46588	.	0.322315	0.36482	N	0.002579	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-7.5849	9.1496	0.36955	0.0:0.6472:0.2781:0.0746	.	.	.	.	X	259	.	ENSP00000289081:E259X	E	-	1	0	FANCC	96937517	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	1.868000	0.39509	0.778000	0.33520	0.655000	0.94253	GAA		0.428	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053219.1	NM_000136		8	39	1	0	0.000442599	0.000475629	8	39				
LRRC8A	56262	broad.mit.edu	37	9	131670584	131670584	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr9:131670584C>G	ENST00000259324.5	+	3	1664	c.1141C>G	c.(1141-1143)Caa>Gaa	p.Q381E	LRRC8A_ENST00000372600.4_Missense_Mutation_p.Q381E|LRRC8A_ENST00000372599.3_Missense_Mutation_p.Q381E	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	381					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CCTCATTGACCAATACGACCC	0.562																																						uc004bwl.3		NA																	0					0						c.(1141-1143)CAA>GAA		leucine rich repeat containing 8 family, member							135.0	115.0	122.0					9																	131670584		2203	4300	6503	SO:0001583	missense	56262				pre-B cell differentiation	integral to membrane		g.chr9:131670584C>G	AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.1141C>G	9.37:g.131670584C>G	ENSP00000259324:p.Gln381Glu					LRRC8A_uc010myp.2_Missense_Mutation_p.Q381E|LRRC8A_uc010myq.2_Missense_Mutation_p.Q381E	p.Q381E	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN			3	1395	+			381			LRR 1.		Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	ENST00000259324.5	37	c.1141C>G	CCDS35155.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.120961	0.56613	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.20598	2.06;2.06;2.06	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.49762	0.1576	M	0.78801	2.425	0.80722	D	1	D	0.64830	0.994	D	0.72338	0.977	T	0.50021	-0.8876	10	0.59425	D	0.04	.	18.4034	0.90525	0.0:1.0:0.0:0.0	.	381	Q8IWT6	LRC8A_HUMAN	E	381	ENSP00000361682:Q381E;ENSP00000361680:Q381E;ENSP00000259324:Q381E	ENSP00000259324:Q381E	Q	+	1	0	LRRC8A	130710405	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	7.818000	0.86416	2.595000	0.87683	0.561000	0.74099	CAA		0.562	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594		6	65	0	0	0	0	6	65				
EHMT1	79813	broad.mit.edu	37	9	140637837	140637837	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr9:140637837G>T	ENST00000460843.1	+	5	865	c.838G>T	c.(838-840)Gtt>Ttt	p.V280F	EHMT1_ENST00000462484.1_Missense_Mutation_p.V280F|EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Missense_Mutation_p.V249F	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	280					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)	p.V249F(2)|p.V280F(2)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		cttgccttttgttttAGCAGC	0.358																																						uc011mfc.1		NA																	4	Substitution - Missense(4)		endometrium(4)	breast(2)|pancreas(1)	3						c.(838-840)GTT>TTT		euchromatic histone-lysine N-methyltransferase 1							35.0	35.0	35.0					9																	140637837		2203	4300	6503	SO:0001583	missense	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140637837G>T	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.838G>T	9.37:g.140637837G>T	ENSP00000417980:p.Val280Phe					EHMT1_uc004coa.2_Missense_Mutation_p.V280F|EHMT1_uc004cob.1_Missense_Mutation_p.V249F|EHMT1_uc010ncn.1_RNA	p.V280F	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	5	875	+	all_cancers(76;0.164)		280					B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	ENST00000460843.1	37	c.838G>T	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	G	16.23	3.065618	0.55539	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;T;T	0.70631	1.61;0.83;-0.5	5.42	5.42	0.78866	.	0.151391	0.42294	D	0.000734	T	0.77552	0.4147	L	0.44542	1.39	0.32618	N	0.523778	P;D;B	0.63880	0.94;0.993;0.302	P;P;B	0.59487	0.564;0.858;0.117	T	0.81955	-0.0696	10	0.56958	D	0.05	.	17.9855	0.89154	0.0:0.0:1.0:0.0	.	280;249;280	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	F	249;249;280;280	ENSP00000334476:V249F;ENSP00000417328:V280F;ENSP00000417980:V280F	ENSP00000334476:V249F	V	+	1	0	EHMT1	139757658	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.547000	0.36190	2.539000	0.85634	0.561000	0.74099	GTT		0.358	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		7	34	1	0	5.18e-06	5.7e-06	7	34				
RS1	6247	broad.mit.edu	37	X	18660205	18660205	+	Silent	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chrX:18660205G>A	ENST00000379984.3	-	6	634	c.594C>T	c.(592-594)ttC>ttT	p.F198F	CDKL5_ENST00000379996.3_Intron|CDKL5_ENST00000379989.3_Intron|RS1_ENST00000476595.1_5'UTR	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	198	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adaptation of rhodopsin mediated signaling (GO:0016062)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|retina layer formation (GO:0010842)|visual perception (GO:0007601)	extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					TGAGGCGGATGAAGCGGGAGA	0.617																																						uc004cyo.2		NA																	0				ovary(2)	2						c.(592-594)TTC>TTT		X-linked juvenile retinoschisis protein							73.0	66.0	68.0					X																	18660205		2203	4300	6503	SO:0001819	synonymous_variant	6247				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space		g.chrX:18660205G>A	AF014459	CCDS14187.1	Xp22.2-p22.1	2014-09-17	2008-07-29		ENSG00000102104	ENSG00000102104			10457	protein-coding gene	gene with protein product		300839	"""retinoschisis (X-linked, juvenile) 1"""	RS		9326935, 17804407	Standard	NM_000330		Approved	XLRS1	uc004cyo.3	O15537	OTTHUMG00000021216	ENST00000379984.3:c.594C>T	X.37:g.18660205G>A						CDKL5_uc004cym.2_Intron|CDKL5_uc004cyn.2_Intron	p.F198F	NM_000330	NP_000321	O15537	XLRS1_HUMAN			6	629	-	Hepatocellular(33;0.183)		198			F5/8 type C.		Q0QD39	Silent	SNP	ENST00000379984.3	37	c.594C>T	CCDS14187.1																																																																																				0.617	RS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055949.1			11	48	0	0	0	0	11	48				
MBTPS2	51360	broad.mit.edu	37	X	21896226	21896226	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chrX:21896226C>A	ENST00000379484.5	+	8	1136	c.1037C>A	c.(1036-1038)tCc>tAc	p.S346Y		NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	346	Cys-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						GTGTGCTTTTCCTACAGAAAT	0.343																																						uc004dae.2		NA																	0				ovary(1)	1						c.(1036-1038)TCC>TAC		membrane-bound transcription factor peptidase,							70.0	65.0	67.0					X																	21896226		2203	4299	6502	SO:0001583	missense	51360				cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity	g.chrX:21896226C>A	AF019612	CCDS14201.1	Xp22.12-p22.11	2014-02-03	2005-08-17		ENSG00000012174	ENSG00000012174			15455	protein-coding gene	gene with protein product		300294	"""membrane-bound transcription factor protease, site 2"", ""keratosis follicularis spinulosa decalvans"""	KFSD		9847074, 9659902, 20672378	Standard	NM_015884		Approved	S2P	uc004dae.3	O43462	OTTHUMG00000021237	ENST00000379484.5:c.1037C>A	X.37:g.21896226C>A	ENSP00000368798:p.Ser346Tyr					MBTPS2_uc010nfr.2_Intron	p.S346Y	NM_015884	NP_056968	O43462	MBTP2_HUMAN			8	1234	+			346			Cys-rich.|Lumenal (Probable).		Q9UM70|Q9UMD3	Missense_Mutation	SNP	ENST00000379484.5	37	c.1037C>A	CCDS14201.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.074492	0.76415	.	.	ENSG00000012174	ENST00000379484	D	0.93547	-3.24	5.36	5.36	0.76844	Peptidase M50 (1);	0.053817	0.85682	D	0.000000	D	0.95230	0.8453	L	0.48174	1.505	0.80722	D	1	D	0.69078	0.997	D	0.68621	0.959	D	0.95071	0.8204	10	0.49607	T	0.09	-11.3253	18.1759	0.89761	0.0:1.0:0.0:0.0	.	346	O43462	MBTP2_HUMAN	Y	346	ENSP00000368798:S346Y	ENSP00000368798:S346Y	S	+	2	0	MBTPS2	21806147	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.321000	0.72881	2.485000	0.83878	0.513000	0.50165	TCC		0.343	MBTPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056026.1			8	44	1	0	0.000157383	0.000170144	8	44				
SUV39H1	6839	broad.mit.edu	37	X	48564702	48564702	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chrX:48564702G>A	ENST00000376687.3	+	4	1065	c.875G>A	c.(874-876)cGt>cAt	p.R292H	AF196970.3_ENST00000416061.1_RNA|SUV39H1_ENST00000453214.2_Missense_Mutation_p.V140I|SUV39H1_ENST00000482260.1_3'UTR|SUV39H1_ENST00000337852.6_Missense_Mutation_p.R303H	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	292	Mediates interaction with MECOM. {ECO:0000250}.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chromatin organization (GO:0006325)|chromatin silencing at rDNA (GO:0000183)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin silencing complex (GO:0005677)|chromosome, centromeric region (GO:0000775)|condensed nuclear chromosome (GO:0000794)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|rDNA heterochromatin (GO:0033553)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|protein N-terminus binding (GO:0047485)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.R292H(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						ATCTACGACCGTCAGGGCGCC	0.582																																						uc004dkn.2		NA																	1	Substitution - Missense(1)		prostate(1)		0						c.(874-876)CGT>CAT		suppressor of variegation 3-9 homolog 1							71.0	62.0	65.0					X																	48564702		2203	4300	6503	SO:0001583	missense	6839				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding	g.chrX:48564702G>A	AF019968	CCDS14304.1, CCDS65252.1	Xp11.23	2011-07-01	2001-11-28		ENSG00000101945	ENSG00000101945		"""Chromatin-modifying enzymes / K-methyltransferases"""	11479	protein-coding gene	gene with protein product		300254	"""suppressor of variegation 3-9 (Drosophila) homolog 1"""	SUV39H		10202156	Standard	NM_001282166		Approved	KMT1A	uc004dkn.3	O43463	OTTHUMG00000022701	ENST00000376687.3:c.875G>A	X.37:g.48564702G>A	ENSP00000365877:p.Arg292His					SUV39H1_uc011mmf.1_Missense_Mutation_p.R303H|SUV39H1_uc011mmg.1_RNA	p.R292H	NM_003173	NP_003164	O43463	SUV91_HUMAN			4	920	+			292			Mediates interaction with MECOM (By similarity).|SET.		B2R6E8|B4DST0|Q53G60|Q6FHK6	Missense_Mutation	SNP	ENST00000376687.3	37	c.875G>A	CCDS14304.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.45|17.45	3.392294|3.392294	0.62066|0.62066	.|.	.|.	ENSG00000101945|ENSG00000101945	ENST00000337852;ENST00000376687;ENST00000448548|ENST00000453214	D;D|.	0.81739|.	-1.53;-1.53|.	4.39|4.39	3.5|3.5	0.40072|0.40072	SET domain (3);|.	0.081678|.	0.47093|.	D|.	0.000245|.	T|T	0.43299|0.43299	0.1241|0.1241	L|L	0.49778|0.49778	1.585|1.585	0.19575|0.19575	N|N	0.999963|0.999963	P;P|.	0.39131|.	0.661;0.661|.	B;B|.	0.32583|.	0.148;0.148|.	T|T	0.25676|0.25676	-1.0125|-1.0125	10|5	0.45353|.	T|.	0.12|.	.|.	9.552|9.552	0.39315|0.39315	0.1114:0.0:0.8886:0.0|0.1114:0.0:0.8886:0.0	.|.	303;292|.	B4DST0;O43463|.	.;SUV91_HUMAN|.	H|I	303;292;288|140	ENSP00000337976:R303H;ENSP00000365877:R292H|.	ENSP00000337976:R303H|.	R|V	+|+	2|1	0|0	SUV39H1|SUV39H1	48449646|48449646	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.549000|0.549000	0.35272|0.35272	2.532000|2.532000	0.45659|0.45659	2.024000|2.024000	0.59613|0.59613	0.287000|0.287000	0.19450|0.19450	CGT|GTC		0.582	SUV39H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058909.1	NM_003173		4	45	0	0	0	0	4	45				
DGKK	139189	broad.mit.edu	37	X	50134545	50134545	+	RNA	SNP	G	G	A	rs529907071		TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chrX:50134545G>A	ENST00000376025.2	-	0	1793							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GATCATTGCCGGTTCCAAGTG	0.512													g|||	2	0.000529801	0.0	0.0	3775	,	,		14050	0.0		0.0	False		,,,				2504	0.002					uc010njr.1		NA																	0				ovary(1)|kidney(1)	2						c.(1732-1734)ACC>ACT		diacylglycerol kinase kappa							108.0	100.0	103.0					X																	50134545		2036	4157	6193			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50134545G>A	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50134545G>A							p.T578T	NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN			11	1794	-	Ovarian(276;0.236)		578			DAGKc.		B2RP91	Silent	SNP	ENST00000376025.2	37	c.1734C>T																																																																																					0.512	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		7	45	0	0	0	0	7	45				
ARR3	407	broad.mit.edu	37	X	69496004	69496004	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chrX:69496004A>T	ENST00000307959.8	+	6	269	c.218A>T	c.(217-219)aAa>aTa	p.K73I	ARR3_ENST00000374495.3_Missense_Mutation_p.K73I	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	73					endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						ACGTTCCGAAAAGATCTGTAT	0.542																																						uc004dyb.2		NA																	0				large_intestine(2)|ovary(2)	4						c.(217-219)AAA>ATA		arrestin 3, retinal (X-arrestin)							108.0	77.0	88.0					X																	69496004		2203	4300	6503	SO:0001583	missense	407				signal transduction|visual perception	cytoplasm|soluble fraction		g.chrX:69496004A>T		CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500			710	protein-coding gene	gene with protein product	"""arrestin 4"""	301770				8224247	Standard	NM_004312		Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768	ENST00000307959.8:c.218A>T	X.37:g.69496004A>T	ENSP00000311538:p.Lys73Ile					ARR3_uc004dya.2_Missense_Mutation_p.K73I	p.K73I	NM_004312	NP_004303	P36575	ARRC_HUMAN			6	286	+			73					B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Missense_Mutation	SNP	ENST00000307959.8	37	c.218A>T	CCDS14399.1	.	.	.	.	.	.	.	.	.	.	A	15.08	2.726650	0.48833	.	.	ENSG00000120500	ENST00000374495;ENST00000374480;ENST00000480877;ENST00000307959	T;T;T	0.48836	0.8;0.8;0.8	4.23	4.23	0.50019	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);Arrestin, conserved site (1);	0.102540	0.64402	D	0.000003	T	0.75317	0.3833	H	0.94925	3.6	0.40652	D	0.982045	D;D	0.89917	0.997;1.0	D;D	0.87578	0.998;0.992	T	0.82559	-0.0397	10	0.87932	D	0	-3.7653	11.9648	0.53029	1.0:0.0:0.0:0.0	.	73;73	P36575;P36575-2	ARRC_HUMAN;.	I	73;73;22;73	ENSP00000363619:K73I;ENSP00000425505:K22I;ENSP00000311538:K73I	ENSP00000311538:K73I	K	+	2	0	ARR3	69412729	1.000000	0.71417	0.912000	0.35992	0.328000	0.28507	4.192000	0.58378	1.474000	0.48178	0.441000	0.28932	AAA		0.542	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057055.2	NM_004312		6	20	0	0	0	0	6	20				
TCEAL8	90843	broad.mit.edu	37	X	102508843	102508843	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chrX:102508843C>T	ENST00000372685.3	-	3	301	c.65G>A	c.(64-66)cGc>cAc	p.R22H	TCEAL8_ENST00000360000.4_Missense_Mutation_p.R22H	NM_153333.2	NP_699164.1	Q8IYN2	TCAL8_HUMAN	transcription elongation factor A (SII)-like 8	22					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(2)|lung(1)|ovary(1)	4						CTCCAAAGGGCGATCTTCCTC	0.443																																						uc004ejx.2		NA																	0				ovary(1)	1						c.(64-66)CGC>CAC		transcription elongation factor A (SII)-like 8							188.0	167.0	174.0					X																	102508843		2203	4300	6503	SO:0001583	missense	90843				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:102508843C>T	AL833632	CCDS14504.1	Xq22.1	2014-03-21			ENSG00000180964	ENSG00000180964			28683	protein-coding gene	gene with protein product						16221301	Standard	NM_001006684		Approved	MGC45400, WEX3	uc004ejy.3	Q8IYN2	OTTHUMG00000022094	ENST00000372685.3:c.65G>A	X.37:g.102508843C>T	ENSP00000361770:p.Arg22His					TCEAL8_uc004ejy.2_Missense_Mutation_p.R22H	p.R22H	NM_153333	NP_699164	Q8IYN2	TCAL8_HUMAN			3	292	-			22						Missense_Mutation	SNP	ENST00000372685.3	37	c.65G>A	CCDS14504.1	.	.	.	.	.	.	.	.	.	.	C	4.239	0.043264	0.08196	.	.	ENSG00000180964	ENST00000360000;ENST00000372685;ENST00000451678	T;T	0.09911	2.93;2.93	4.52	-3.18	0.05186	.	0.538057	0.16403	N	0.215930	T	0.04318	0.0119	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34079	-0.9843	10	0.32370	T	0.25	-0.1709	11.0587	0.47933	0.0:0.2747:0.0:0.7253	.	22	Q8IYN2	TCAL8_HUMAN	H	22	ENSP00000353093:R22H;ENSP00000361770:R22H	ENSP00000353093:R22H	R	-	2	0	TCEAL8	102395499	0.530000	0.26330	0.182000	0.23118	0.796000	0.44982	-0.926000	0.03988	-0.959000	0.03618	-0.191000	0.12829	CGC		0.443	TCEAL8-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057698.1	NM_153333		9	139	0	0	0	0	9	139				
ATP1B4	23439	broad.mit.edu	37	X	119509241	119509241	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chrX:119509241C>G	ENST00000218008.3	+	5	634	c.577C>G	c.(577-579)Ctt>Gtt	p.L193V	ATP1B4_ENST00000539306.1_Missense_Mutation_p.L150V|ATP1B4_ENST00000361319.3_Missense_Mutation_p.L189V	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	193					monovalent inorganic cation transport (GO:0015672)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|nuclear inner membrane (GO:0005637)|sodium:potassium-exchanging ATPase complex (GO:0005890)	monovalent inorganic cation transmembrane transporter activity (GO:0015077)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						TAATGACAGTCTTCAAGAGGA	0.488																																						uc004esr.2		NA																	0				ovary(1)|skin(1)	2						c.(577-579)CTT>GTT		ATPase, (Na+)/K+ transporting, beta 4							108.0	100.0	103.0					X																	119509241		2203	4300	6503	SO:0001583	missense	23439				ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity	g.chrX:119509241C>G	AF158383	CCDS14598.1, CCDS48158.1	Xq24	2012-10-22	2010-04-20		ENSG00000101892	ENSG00000101892		"""ATPases / P-type"""	808	protein-coding gene	gene with protein product	"""Na,K-ATPase beta m-subunit"""		"""ATPase, (Na+)/K+ transporting, beta 4 polypeptide"""			10456317, 17592128	Standard	NM_012069		Approved		uc004esr.3	Q9UN42	OTTHUMG00000022299	ENST00000218008.3:c.577C>G	X.37:g.119509241C>G	ENSP00000218008:p.Leu193Val					ATP1B4_uc004esq.2_Missense_Mutation_p.L189V|ATP1B4_uc011mtx.1_Missense_Mutation_p.L158V|ATP1B4_uc011mty.1_Missense_Mutation_p.L150V	p.L193V	NM_001142447	NP_001135919	Q9UN42	AT1B4_HUMAN			5	661	+			193			Perinuclear space (Potential).		Q17RR0|Q9UN41	Missense_Mutation	SNP	ENST00000218008.3	37	c.577C>G	CCDS48158.1	.	.	.	.	.	.	.	.	.	.	C	8.031	0.761771	0.15914	.	.	ENSG00000101892	ENST00000218008;ENST00000361319;ENST00000539306	T;T;T	0.28666	1.6;1.6;1.6	5.57	4.63	0.57726	.	0.620701	0.17680	N	0.165670	T	0.15609	0.0376	N	0.11313	0.125	0.32585	N	0.52799	B;B;B;B	0.31519	0.327;0.052;0.327;0.28	B;B;B;B	0.31686	0.134;0.055;0.134;0.082	T	0.14282	-1.0478	10	0.27082	T	0.32	-13.9477	8.4025	0.32594	0.2426:0.6196:0.1378:0.0	.	150;158;193;189	B7ZKW0;B7ZKV9;Q9UN42;Q9UN42-2	.;.;AT1B4_HUMAN;.	V	193;189;150	ENSP00000218008:L193V;ENSP00000355346:L189V;ENSP00000443334:L150V	ENSP00000218008:L193V	L	+	1	0	ATP1B4	119393269	0.771000	0.28555	1.000000	0.80357	0.997000	0.91878	0.320000	0.19540	2.328000	0.79073	0.513000	0.50165	CTT		0.488	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058095.1	NM_001142447		10	80	0	0	0	0	10	80				
GPR112	139378	broad.mit.edu	37	X	135431431	135431431	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chrX:135431431C>G	ENST00000394143.1	+	6	5857	c.5566C>G	c.(5566-5568)Ccc>Gcc	p.P1856A	GPR112_ENST00000370652.1_Missense_Mutation_p.P1856A|GPR112_ENST00000394141.1_Missense_Mutation_p.P1651A|GPR112_ENST00000287534.4_Missense_Mutation_p.P1793A|GPR112_ENST00000412101.1_Missense_Mutation_p.P1651A	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1856					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(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTCTCCTCCTCCCACATCCCA	0.448																																						uc004ezu.1		NA																	0				ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(5566-5568)CCC>GCC		G-protein coupled receptor 112							116.0	104.0	108.0					X																	135431431		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135431431C>G	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.5566C>G	X.37:g.135431431C>G	ENSP00000377699:p.Pro1856Ala					GPR112_uc010nsb.1_Missense_Mutation_p.P1651A|GPR112_uc010nsc.1_Missense_Mutation_p.P1623A	p.P1856A	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			6	5857	+	Acute lymphoblastic leukemia(192;0.000127)		1856			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.5566C>G	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	c	0.044	-1.274698	0.01410	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.29917	1.59;1.59;1.55;1.68;1.55	3.88	1.1	0.20463	.	.	.	.	.	T	0.13970	0.0338	N	0.19112	0.55	0.09310	N	1	B;B;B	0.29552	0.248;0.048;0.028	B;B;B	0.29077	0.098;0.024;0.016	T	0.27502	-1.0072	9	0.09084	T	0.74	.	2.806	0.05427	0.0:0.4418:0.2452:0.313	.	1793;1651;1856	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	A	1856;1856;1651;1793;1651	ENSP00000377699:P1856A;ENSP00000359686:P1856A;ENSP00000416526:P1651A;ENSP00000287534:P1793A;ENSP00000377697:P1651A	ENSP00000287534:P1793A	P	+	1	0	GPR112	135259097	0.000000	0.05858	0.001000	0.08648	0.199000	0.23934	0.105000	0.15333	0.565000	0.29255	0.534000	0.68092	CCC		0.448	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			17	85	0	0	0	0	17	85				
MCF2	4168	broad.mit.edu	37	X	138680607	138680607	+	Silent	SNP	G	G	C			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chrX:138680607G>C	ENST00000370576.4	-	17	2096	c.1887C>G	c.(1885-1887)ctC>ctG	p.L629L	MCF2_ENST00000414978.1_Silent_p.L689L|MCF2_ENST00000519895.1_Silent_p.L705L|MCF2_ENST00000370578.4_Silent_p.L774L|MCF2_ENST00000338585.6_Silent_p.L645L|MCF2_ENST00000370573.4_Silent_p.L629L|MCF2_ENST00000520602.1_Silent_p.L689L|MCF2_ENST00000536274.1_Silent_p.L590L|AL033403.1_ENST00000401295.2_RNA	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	629	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GCACTGGTTTGAGTAAATAGG	0.299																																						uc004fau.2		NA																	0				lung(1)|pleura(1)	2						c.(1885-1887)CTC>CTG		MCF.2 cell line derived transforming sequence							119.0	106.0	111.0					X																	138680607		2203	4299	6502	SO:0001819	synonymous_variant	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138680607G>C		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.1887C>G	X.37:g.138680607G>C						MCF2_uc004fav.2_Silent_p.L645L|MCF2_uc011mwl.1_Silent_p.L606L|MCF2_uc010nsh.1_Silent_p.L629L|MCF2_uc011mwm.1_Silent_p.L590L|MCF2_uc011mwn.1_Silent_p.L774L|MCF2_uc004faw.2_Silent_p.L689L|MCF2_uc011mwo.1_Silent_p.L705L	p.L629L	NM_005369	NP_005360	P10911	MCF2_HUMAN			17	2181	-	Acute lymphoblastic leukemia(192;0.000127)		629			DH.		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Silent	SNP	ENST00000370576.4	37	c.1887C>G	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	g	7.916	0.737575	0.15574	.	.	ENSG00000101977	ENST00000437564	.	.	.	5.51	4.65	0.58169	.	.	.	.	.	T	0.58764	0.2145	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55885	-0.8070	4	.	.	.	.	8.0975	0.30837	0.0863:0.1664:0.7474:0.0	.	.	.	.	E	133	.	.	Q	-	1	0	MCF2	138508273	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.723000	0.25939	1.098000	0.41479	0.597000	0.82753	CAA		0.299	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		7	43	0	0	0	0	7	43				
OR4K17	390436	broad.mit.edu	37	14	20586188	20586188	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr14:20586188delT	ENST00000315543.4	+	1	623	c.623delT	c.(622-624)attfs	p.I208fs		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GTAGACAGCATTTTTTGTGAC	0.448																																						uc001vwo.1		NA																	0				skin(3)	3						c.(622-624)ATTfs		olfactory receptor, family 4, subfamily K,							265.0	234.0	244.0					14																	20586188		2203	4300	6503	SO:0001589	frameshift_variant	390436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20586188delT		CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"""GPCR / Class A : Olfactory receptors"""	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.623delT	14.37:g.20586188delT	ENSP00000319197:p.Ile208fs						p.I208fs	NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	623	+	all_cancers(95;0.00108)		180			Extracellular (Potential).		Q6IF12	Frame_Shift_Del	DEL	ENST00000315543.4	37	c.623delT	CCDS32030.1																																																																																				0.448	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1			17	150	NA	NA	NA	NA	17	150	---	---	---	---
CASC5	57082	broad.mit.edu	37	15	40915007	40915010	+	Frame_Shift_Del	DEL	GGAA	GGAA	-			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr15:40915007_40915010delGGAA	ENST00000346991.5	+	11	3013_3016	c.2623_2626delGGAA	c.(2623-2628)ggaaggfs	p.GR875fs	CASC5_ENST00000399668.2_Frame_Shift_Del_p.GR849fs|CASC5_ENST00000527044.1_3'UTR			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	875	2 X 104 AA approximate repeats.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CAAAATTTGGGGAAGGAAAAGTGT	0.319																																						uc010bbs.1		NA																	0				breast(3)|central_nervous_system(1)|skin(1)	5						c.(2623-2628)GGAAGGfs		cancer susceptibility candidate 5 isoform 1																																				SO:0001589	frameshift_variant	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40915007_40915010delGGAA	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.2623_2626delGGAA	15.37:g.40915011_40915014delGGAA	ENSP00000335463:p.Gly875fs					CASC5_uc010ucq.1_Frame_Shift_Del_p.G699fs|CASC5_uc001zme.2_Frame_Shift_Del_p.G849fs|CASC5_uc010bbt.1_Frame_Shift_Del_p.G849fs	p.G875fs	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	11	2784_2787	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	875_876			2 X 104 AA approximate repeats.		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Frame_Shift_Del	DEL	ENST00000346991.5	37	c.2623_2626delGGAA	CCDS42023.1																																																																																				0.319	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		7	39	NA	NA	NA	NA	7	39	---	---	---	---
ZNF638	27332	broad.mit.edu	37	2	71653593	71653596	+	Frame_Shift_Del	DEL	CCAT	CCAT	-			TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr2:71653593_71653596delCCAT	ENST00000409544.1	+	24	5224_5227	c.4594_4597delCCAT	c.(4594-4599)ccattafs	p.PL1532fs	ZNF638_ENST00000264447.4_Frame_Shift_Del_p.PL1532fs|ZNF638_ENST00000355812.3_Frame_Shift_Del_p.SH1123fs|ZNF638_ENST00000409407.1_Frame_Shift_Del_p.PL472fs	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1532					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CCAACAGGAGCCATTATTTCCATT	0.353																																						uc002shx.2		NA																	0				pancreas(2)|ovary(1)|skin(1)	4						c.(4594-4599)CCATTAfs		zinc finger protein 638																																				SO:0001589	frameshift_variant	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71653593_71653596delCCAT	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.4594_4597delCCAT	2.37:g.71653593_71653596delCCAT	ENSP00000386433:p.Pro1532fs					ZNF638_uc002shy.2_Frame_Shift_Del_p.P1532fs|ZNF638_uc002shz.2_Frame_Shift_Del_p.P1532fs|ZNF638_uc002sia.2_Frame_Shift_Del_p.P1532fs|ZNF638_uc002sib.1_Frame_Shift_Del_p.S1123fs|ZNF638_uc010fed.2_Intron|ZNF638_uc002sic.2_Frame_Shift_Del_p.P629fs|ZNF638_uc002sid.2_5'UTR	p.P1532fs	NM_014497	NP_055312	Q14966	ZN638_HUMAN			24	4913_4916	+			1532_1533					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Frame_Shift_Del	DEL	ENST00000409544.1	37	c.4594_4597delCCAT	CCDS1917.1																																																																																				0.353	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		7	52	NA	NA	NA	NA	7	52	---	---	---	---
NICN1	84276	broad.mit.edu	37	3	49462293	49462293	+	Frame_Shift_Del	DEL	A	A	-	rs189963854		TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr3:49462293delA	ENST00000273598.3	-	6	701	c.615delT	c.(613-615)tatfs	p.Y205fs	AMT_ENST00000458307.2_5'Flank|AMT_ENST00000546031.1_5'Flank|AMT_ENST00000395338.2_5'Flank|AMT_ENST00000476226.1_5'Flank|NICN1_ENST00000436744.2_Frame_Shift_Del_p.Y167fs|NICN1_ENST00000422593.1_5'Flank|NICN1-AS1_ENST00000424915.1_RNA|AMT_ENST00000273588.3_5'Flank|AMT_ENST00000538581.1_5'Flank	NM_032316.3	NP_115692.1	Q9BSH3	NICN1_HUMAN	nicolin 1	205						microtubule (GO:0005874)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGTTCAGGTCATAACAGCCAT	0.507																																						uc003cwz.1		NA																	0					0						c.(613-615)TATfs		nicolin 1							131.0	108.0	116.0					3																	49462293		2203	4300	6503	SO:0001589	frameshift_variant	84276					microtubule|nucleus		g.chr3:49462293delA	AJ299740	CCDS2798.1	3p21.31	2008-07-18			ENSG00000145029	ENSG00000145029			18317	protein-coding gene	gene with protein product		611516				12392556	Standard	NM_032316		Approved	MGC12936	uc003cwz.1	Q9BSH3	OTTHUMG00000156848	ENST00000273598.3:c.615delT	3.37:g.49462293delA	ENSP00000273598:p.Tyr205fs					AMT_uc011bcn.1_5'Flank|AMT_uc003cww.2_5'Flank|AMT_uc003cwx.2_5'Flank|AMT_uc011bco.1_5'Flank|AMT_uc003cwy.2_5'Flank|AMT_uc011bcp.1_5'Flank|AMT_uc011bcq.1_5'Flank|NICN1_uc003cxa.2_RNA|NICN1_uc011bcr.1_Frame_Shift_Del_p.Y167fs	p.Y205fs	NM_032316	NP_115692	Q9BSH3	NICN1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	6	700	-			205					Q8IZQ2	Frame_Shift_Del	DEL	ENST00000273598.3	37	c.615delT	CCDS2798.1																																																																																				0.507	NICN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346224.3	NM_032316		17	15	NA	NA	NA	NA	17	15	---	---	---	---
KIAA0226	9711	broad.mit.edu	37	3	197423824	197423845	+	Splice_Site	DEL	CCATATTCCATGTACAGAGAGC	CCATATTCCATGTACAGAGAGC	-	rs369267822		TCGA-CV-7407-01A-11D-2078-08	TCGA-CV-7407-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	94631dc8-6dcb-49ed-bb68-e1a57a65f1cb	1ef9d6ea-cd89-4b1f-b699-623bc0293b99	g.chr3:197423824_197423845delCCATATTCCATGTACAGAGAGC	ENST00000296343.5	-	8	1336_1357	c.1337_1358delGCTCTCTGTACATGGAATATGG	c.(1336-1359)agctctctgtacatggaatatgga>aa	p.SSLYMEYG446fs	KIAA0226_ENST00000273582.5_Splice_Site_p.SSLYMEYG401fs|KIAA0226_ENST00000389665.5_Splice_Site_p.SSLYMEYG446fs	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	446	Ser-rich.				autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CTAGTACTCACCATATTCCATGTACAGAGAGCTGGGTGTGCT	0.486																																					Esophageal Squamous(3;167 355 3763 15924)	uc003fyc.2		NA																	0					0						c.e8+1		hypothetical protein LOC9711 isoform 2.																																				SO:0001630	splice_region_variant	9711				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	g.chr3:197423824_197423845delCCATATTCCATGTACAGAGAGC	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.1357+1GCTCTCTGTACATGGAATATGG>-	3.37:g.197423824_197423845delCCATATTCCATGTACAGAGAGC						KIAA0226_uc003fyd.3_Splice_Site_p.E408_splice|KIAA0226_uc003fye.1_Splice_Site_p.E160_splice|KIAA0226_uc003fyf.2_Splice_Site_p.E301_splice	p.E453_splice	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)	8	1540	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)							Q96CK5	Splice_Site	DEL	ENST00000296343.5	37	c.1357_splice	CCDS43195.1																																																																																				0.486	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901	Frame_Shift_Del	7	27	NA	NA	NA	NA	7	27	---	---	---	---
