#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TMCC1	23023	broad.mit.edu	37	3	129547175	129547175	+	Missense_Mutation	SNP	C	C	G	rs114855835		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:129547175C>G	ENST00000393238.3	-	3	387	c.47G>C	c.(46-48)gGa>gCa	p.G16A	TMCC1_ENST00000426664.2_Intron	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	16						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GGATTTGCCTCCAGGATCAGG	0.403																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(46-48)gGa>gCa		transmembrane and coiled-coil domain family 1							75.0	78.0	77.0					3																	129547175		2203	4300	6503	SO:0001583	missense	23023					integral to membrane		g.chr3:129547175C>G	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.47G>C	3.37:g.129547175C>G	ENSP00000376930:p.Gly16Ala					TMCC1_ENST00000426664.2_Intron	p.G16A	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			3	387	-			16					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	c.47G>C	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.762543	0.69763	.	.	ENSG00000172765	ENST00000393238	T	0.36157	1.27	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000003	T	0.38665	0.1049	L	0.50333	1.59	0.80722	D	1	B	0.17667	0.023	B	0.20577	0.03	T	0.22591	-1.0212	10	0.59425	D	0.04	-14.806	19.0563	0.93067	0.0:1.0:0.0:0.0	.	16	O94876	TMCC1_HUMAN	A	16	ENSP00000376930:G16A	ENSP00000376930:G16A	G	-	2	0	TMCC1	131029865	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.545000	0.60698	2.583000	0.87209	0.485000	0.47835	GGA		0.403	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		7	65	0	0	0	1	0	7	65				
LRRC15	131578	broad.mit.edu	37	3	194080440	194080440	+	Silent	SNP	A	A	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:194080440A>G	ENST00000347624.3	-	2	1418	c.1333T>C	c.(1333-1335)Tta>Cta	p.L445L	LRRC15_ENST00000428839.1_Silent_p.L451L|LRRC15_ENST00000439944.2_Silent_p.L451L	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	445	LRRCT.				negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)			biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TCCGTCCCTAACCTAGGCTGG	0.552																																						ENST00000347624.3																			0				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1333-1335)Tta>Cta		leucine rich repeat containing 15							85.0	73.0	77.0					3																	194080440		2203	4300	6503	SO:0001819	synonymous_variant	131578					integral to membrane		g.chr3:194080440A>G	AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.1333T>C	3.37:g.194080440A>G						LRRC15_ENST00000428839.1_Silent_p.L451L|LRRC15_ENST00000439944.2_Silent_p.L451L	p.L445L	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)	2	1418	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		445			LRRCT.		Q495Q6|Q7RTN7	Silent	SNP	ENST00000347624.3	37	c.1333T>C	CCDS3306.1																																																																																				0.552	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2			4	38	0	0	0	1	0	4	38				
KAT7	11143	broad.mit.edu	37	17	47874127	47874127	+	Missense_Mutation	SNP	G	G	A	rs375311893		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:47874127G>A	ENST00000259021.4	+	3	459	c.179G>A	c.(178-180)cGa>cAa	p.R60Q	KAT7_ENST00000424009.2_Missense_Mutation_p.R60Q|KAT7_ENST00000509773.1_Missense_Mutation_p.R60Q|KAT7_ENST00000503935.2_5'UTR|KAT7_ENST00000454930.2_Intron|KAT7_ENST00000510819.1_Intron|KAT7_ENST00000435742.2_5'UTR	NM_007067.4	NP_008998.1	O95251	KAT7_HUMAN	K(lysine) acetyltransferase 7	60					chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										AGTCCTGTTCGAAATCTGCAG	0.408																																						ENST00000259021.4																			0											c.(178-180)cGa>cAa		K(lysine) acetyltransferase 7		G	GLN/ARG,,GLN/ARG,,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	86.0	91.0	90.0		179,,179,,179	5.9	1.0	17		90	0,8600		0,0,4300	no	missense,intron,missense,intron,missense	KAT7	NM_001199155.1,NM_001199156.1,NM_001199157.1,NM_001199158.1,NM_007067.4	43,,43,,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,,benign,,benign	60/582,,60/502,,60/612	47874127	1,13005	2203	4300	6503	SO:0001583	missense	11143				DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:47874127G>A	AF074606	CCDS11554.1, CCDS56035.1, CCDS56036.1, CCDS56037.1, CCDS56038.1	17q21.32	2013-01-10	2011-07-21	2011-07-21	ENSG00000136504	ENSG00000136504	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17016	protein-coding gene	gene with protein product	"""histone acetyltransferase binding to ORC1"""	609880	"""MYST histone acetyltransferase 2"""	MYST2		10438470, 10930412	Standard	NM_001199155		Approved	HBOA, HBO1, ZC2HC7	uc002ipm.3	O95251	OTTHUMG00000161770	ENST00000259021.4:c.179G>A	17.37:g.47874127G>A	ENSP00000259021:p.Arg60Gln					KAT7_ENST00000424009.2_Missense_Mutation_p.R60Q|KAT7_ENST00000510819.1_Intron|KAT7_ENST00000509773.1_Missense_Mutation_p.R60Q|KAT7_ENST00000503935.2_5'UTR|KAT7_ENST00000454930.2_Intron|KAT7_ENST00000435742.2_5'UTR	p.R60Q	NM_007067.4	NP_008998.1	O95251	MYST2_HUMAN			3	459	+			60					B3KN74|B4DF85|B4DFB4|B4DFE0|B4DGY4|E7ER15|G5E9K7	Missense_Mutation	SNP	ENST00000259021.4	37	c.179G>A	CCDS11554.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.180913	0.78677	2.27E-4	0.0	ENSG00000136504	ENST00000259021;ENST00000509773;ENST00000424009	.	.	.	5.93	5.93	0.95920	.	0.133899	0.50627	D	0.000104	T	0.60689	0.2288	N	0.16478	0.41	0.80722	D	1	D;B;D	0.69078	0.994;0.002;0.997	P;B;D	0.66847	0.885;0.0;0.947	T	0.53151	-0.8479	9	0.12430	T	0.62	-7.6213	19.9388	0.97151	0.0:0.0:1.0:0.0	.	60;60;60	B4DFB4;O95251;G5E9K7	.;KAT7_HUMAN;.	Q	60	.	ENSP00000259021:R60Q	R	+	2	0	KAT7	45229126	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	4.176000	0.58269	2.815000	0.96918	0.561000	0.74099	CGA		0.408	KAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366032.1	NM_007067		15	146	0	0	0	1	0	15	146				
CRBN	51185	broad.mit.edu	37	3	3214548	3214548	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:3214548C>T	ENST00000231948.4	-	4	461	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	CRBN_ENST00000432408.2_Missense_Mutation_p.E146K	NM_016302.3	NP_057386.2	Q96SW2	CRBN_HUMAN	cereblon	147	Lon.				negative regulation of ion transmembrane transport (GO:0034766)|negative regulation of protein homooligomerization (GO:0032463)|positive regulation of protein homodimerization activity (GO:0090073)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP-dependent peptidase activity (GO:0004176)			endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	11				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)	Lenalidomide(DB00480)|Pomalidomide(DB08910)|Thalidomide(DB01041)	AAATCCTGTTCTTCTCGATAG	0.363																																						ENST00000231948.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	11						c.(439-441)Gaa>Aaa		cereblon							179.0	174.0	176.0					3																	3214548		2203	4300	6503	SO:0001583	missense	51185				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul4A-RING ubiquitin ligase complex|cytoplasm|membrane|nucleus	ATP-dependent peptidase activity|protein binding	g.chr3:3214548C>T	BC017419	CCDS2562.1, CCDS54547.1	3p26.3	2014-05-27			ENSG00000113851	ENSG00000113851			30185	protein-coding gene	gene with protein product		609262	"""mental retardation, non-syndromic, autosomal recessive, 2A"""	MRT2A		15557513	Standard	NM_016302		Approved	MRT2	uc003bpq.3	Q96SW2	OTTHUMG00000090261	ENST00000231948.4:c.439G>A	3.37:g.3214548C>T	ENSP00000231948:p.Glu147Lys					CRBN_ENST00000432408.2_Missense_Mutation_p.E146K	p.E147K	NM_016302.3	NP_057386.2	Q96SW2	CRBN_HUMAN		Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)	4	461	-			147			Lon.		B2R6H4|C9IZA9|C9JAH6|Q6AI62|Q6NVZ0|Q9UHW4	Missense_Mutation	SNP	ENST00000231948.4	37	c.439G>A	CCDS2562.1	.	.	.	.	.	.	.	.	.	.	C	33	5.284052	0.95489	.	.	ENSG00000113851	ENST00000231948;ENST00000432408;ENST00000546075	T;T	0.40756	1.02;1.02	5.68	5.68	0.88126	Peptidase S16, lon N-terminal (2);PUA-like domain (1);	0.000000	0.85682	D	0.000000	T	0.58666	0.2138	L	0.52364	1.645	0.80722	D	1	D;D;D	0.69078	0.997;0.996;0.997	D;D;D	0.79108	0.91;0.987;0.992	T	0.46470	-0.9189	10	0.14656	T	0.56	-30.6388	19.7759	0.96393	0.0:1.0:0.0:0.0	.	84;146;147	F5H3U1;Q96SW2-2;Q96SW2	.;.;CRBN_HUMAN	K	147;146;84	ENSP00000231948:E147K;ENSP00000412499:E146K	ENSP00000231948:E147K	E	-	1	0	CRBN	3189548	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.311000	0.78958	2.675000	0.91044	0.591000	0.81541	GAA		0.363	CRBN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206579.3	NM_016302		8	53	0	0	0	1	0	8	53				
DHCR24	1718	broad.mit.edu	37	1	55349324	55349324	+	Silent	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:55349324C>G	ENST00000371269.3	-	2	452	c.354G>C	c.(352-354)ctG>ctC	p.L118L	DHCR24_ENST00000535035.1_Silent_p.L77L	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	118	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				amyloid precursor protein catabolic process (GO:0042987)|apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cholesterol biosynthetic process (GO:0006695)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|oxidation-reduction process (GO:0055114)|plasminogen activation (GO:0031639)|protein localization (GO:0008104)|Ras protein signal transduction (GO:0007265)|regulation of neuron death (GO:1901214)|response to hormone (GO:0009725)|response to oxidative stress (GO:0006979)|skin development (GO:0043588)|small molecule metabolic process (GO:0044281)|tissue development (GO:0009888)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	delta24(24-1) sterol reductase activity (GO:0000246)|delta24-sterol reductase activity (GO:0050614)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|peptide antigen binding (GO:0042605)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						GAATGTCCATCAGGTTGATCA	0.537																																					Pancreas(39;516 1021 24601 30715 32780)	ENST00000371269.3																			0				large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						c.(352-354)ctG>ctC		24-dehydrocholesterol reductase							299.0	263.0	276.0					1																	55349324		2203	4300	6503	SO:0001819	synonymous_variant	1718				anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding	g.chr1:55349324C>G	AF261758	CCDS600.1	1p32.3	2008-02-05			ENSG00000116133	ENSG00000116133			2859	protein-coding gene	gene with protein product		606418				11519011	Standard	NM_014762		Approved	KIAA0018, seladin-1	uc001cyc.1	Q15392	OTTHUMG00000009989	ENST00000371269.3:c.354G>C	1.37:g.55349324C>G						DHCR24_ENST00000535035.1_Silent_p.L77L	p.L118L	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN			2	452	-			118			FAD-binding PCMH-type.		B7Z817|D3DQ51|Q9HBA8	Silent	SNP	ENST00000371269.3	37	c.354G>C	CCDS600.1																																																																																				0.537	DHCR24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027680.1	NM_014762		26	211	0	0	0	1	0	26	211				
CPXM1	56265	broad.mit.edu	37	20	2777179	2777179	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:2777179C>T	ENST00000380605.2	-	8	1103	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	347					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GTACCCAGCTCATGCTCCCCA	0.612																																						ENST00000380605.2																			0				endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(1039-1041)Gag>Aag		carboxypeptidase X (M14 family), member 1							168.0	161.0	163.0					20																	2777179		2203	4300	6503	SO:0001583	missense	56265				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	g.chr20:2777179C>T	AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.1039G>A	20.37:g.2777179C>T	ENSP00000369979:p.Glu347Lys						p.E347K	NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN			8	1103	-			347					Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	ENST00000380605.2	37	c.1039G>A	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958823	0.92726	.	.	ENSG00000088882	ENST00000380605;ENST00000421947	T	0.10860	2.83	5.43	5.43	0.79202	Peptidase M14, carboxypeptidase A (1);	0.000000	0.85682	D	0.000000	T	0.36413	0.0966	M	0.80422	2.495	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.995	T	0.05699	-1.0869	10	0.66056	D	0.02	-34.914	16.7686	0.85531	0.0:1.0:0.0:0.0	.	347;347	Q8N2E1;Q96SM3	.;CPXM1_HUMAN	K	347;43	ENSP00000369979:E347K	ENSP00000369979:E347K	E	-	1	0	CPXM1	2725179	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.935000	0.70145	2.825000	0.97269	0.655000	0.94253	GAG		0.612	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		32	137	0	0	0	1	0	32	137				
GTF3C2	2976	broad.mit.edu	37	2	27566241	27566241	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:27566241C>G	ENST00000359541.2	-	2	610	c.181G>C	c.(181-183)Gag>Cag	p.E61Q	AC109828.1_ENST00000589853.1_RNA|AC109828.1_ENST00000588707.1_RNA|GTF3C2_ENST00000264720.3_Missense_Mutation_p.E61Q|AC109828.1_ENST00000590383.1_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	61					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGAATCCTCAAATCCAGGC	0.488																																						ENST00000359541.2																			0				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38						c.(181-183)Gag>Cag		general transcription factor IIIC, polypeptide 2, beta 110kDa							155.0	157.0	156.0					2																	27566241		2203	4300	6503	SO:0001583	missense	2976					transcription factor TFIIIC complex		g.chr2:27566241C>G	D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"""General transcription factors"", ""WD repeat domain containing"""	4665	protein-coding gene	gene with protein product		604883	"""general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"""			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.181G>C	2.37:g.27566241C>G	ENSP00000352536:p.Glu61Gln					GTF3C2_ENST00000264720.3_Missense_Mutation_p.E61Q	p.E61Q			Q8WUA4	TF3C2_HUMAN			2	610	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		61					D6W557|Q16632|Q9BWI7	Missense_Mutation	SNP	ENST00000359541.2	37	c.181G>C	CCDS1749.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362644	0.61403	.	.	ENSG00000115207	ENST00000359541;ENST00000264720;ENST00000457748;ENST00000423998	T;T	0.80123	-1.34;-1.34	5.24	5.24	0.73138	.	0.311235	0.28420	N	0.015411	T	0.75443	0.3850	N	0.24115	0.695	0.31799	N	0.628664	P;P;P	0.46656	0.882;0.631;0.747	P;B;P	0.47891	0.56;0.287;0.56	T	0.79945	-0.1589	10	0.56958	D	0.05	-11.665	14.1867	0.65609	0.0:1.0:0.0:0.0	.	61;61;61	Q8WUA4-2;Q8WUA4;Q53QN0	.;TF3C2_HUMAN;.	Q	61	ENSP00000352536:E61Q;ENSP00000264720:E61Q	ENSP00000264720:E61Q	E	-	1	0	GTF3C2	27419745	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.298000	0.51818	2.715000	0.92844	0.563000	0.77884	GAG		0.488	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2			22	189	0	0	0	1	0	22	189				
DSCAML1	57453	broad.mit.edu	37	11	117303881	117303881	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:117303881C>T	ENST00000321322.6	-	29	5180	c.5179G>A	c.(5179-5181)Gag>Aag	p.E1727K	DSCAML1_ENST00000527706.1_Missense_Mutation_p.E1457K	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1667					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCTTTGTCCTCGATGAGCAGC	0.562																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(5179-5181)Gag>Aag		Down syndrome cell adhesion molecule like 1							120.0	102.0	108.0					11																	117303881		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117303881C>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.5179G>A	11.37:g.117303881C>T	ENSP00000315465:p.Glu1727Lys					DSCAML1_ENST00000527706.1_Missense_Mutation_p.E1457K	p.E1727K	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	29	5180	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1667					Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.5179G>A	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	34	5.308017	0.95629	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.69685	-0.37;-0.42	5.46	4.54	0.55810	.	.	.	.	.	T	0.77903	0.4200	M	0.65498	2.005	0.80722	D	1	D	0.71674	0.998	D	0.64877	0.93	T	0.80061	-0.1540	9	0.72032	D	0.01	.	13.6358	0.62221	0.0:0.9256:0.0:0.0744	.	1667	Q8TD84	DSCL1_HUMAN	K	1457;1727;1434	ENSP00000434335:E1457K;ENSP00000315465:E1727K	ENSP00000315465:E1727K	E	-	1	0	DSCAML1	116809091	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	6.049000	0.71053	2.542000	0.85734	0.591000	0.81541	GAG		0.562	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		5	32	0	0	0	1	0	5	32				
TTN	7273	broad.mit.edu	37	2	179632801	179632801	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:179632801G>A	ENST00000591111.1	-	39	9469	c.9245C>T	c.(9244-9246)tCt>tTt	p.S3082F	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S3082F|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S3082F|TTN_ENST00000360870.5_Missense_Mutation_p.S3082F|TTN_ENST00000359218.5_Missense_Mutation_p.S3036F|TTN_ENST00000460472.2_Missense_Mutation_p.S3036F|TTN_ENST00000342175.6_Missense_Mutation_p.S3036F			Q8WZ42	TITIN_HUMAN	titin	13414	Ig-like 18.				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)			GTCAGGTTCAGAAACTTCACA	0.408																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(9244-9246)tCt>tTt		titin							154.0	139.0	144.0					2																	179632801		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179632801G>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.9245C>T	2.37:g.179632801G>A	ENSP00000465570:p.Ser3082Phe					TTN_ENST00000360870.5_Missense_Mutation_p.S3082F|TTN_ENST00000342175.6_Missense_Mutation_p.S3036F|TTN_ENST00000342992.6_Missense_Mutation_p.S3082F|TTN_ENST00000591111.1_Missense_Mutation_p.S3082F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S3036F|TTN_ENST00000460472.2_Missense_Mutation_p.S3036F	p.S3082F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		39	9469	-			2819			Ig-like 18.		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.9245C>T		.	.	.	.	.	.	.	.	.	.	G	16.14	3.038478	0.55003	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37	5.73	5.73	0.89815	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84383	0.5460	M	0.82517	2.595	0.47547	D	0.99945	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	D	0.85467	0.1170	9	0.87932	D	0	.	20.2699	0.98469	0.0:0.0:1.0:0.0	.	3036;3036;3036;3082;3082	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	F	3082;3036;3036;3036;3036;3082	ENSP00000343764:S3082F;ENSP00000434586:S3036F;ENSP00000340554:S3036F;ENSP00000352154:S3036F;ENSP00000354117:S3082F	ENSP00000340554:S3036F	S	-	2	0	TTN	179341046	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	9.420000	0.97426	2.854000	0.98071	0.655000	0.94253	TCT		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	51	0	0	0	1	0	7	51				
SYMPK	8189	broad.mit.edu	37	19	46332275	46332275	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:46332275G>A	ENST00000245934.7	-	14	2182	c.1938C>T	c.(1936-1938)ctC>ctT	p.L646L	AC092301.3_ENST00000601618.1_RNA	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	646					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		ACAGGCGGATGAGGCAGTCCT	0.652																																						ENST00000245934.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45						c.(1936-1938)ctC>ctT		symplekin							70.0	70.0	70.0					19																	46332275		2203	4300	6503	SO:0001819	synonymous_variant	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46332275G>A	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.1938C>T	19.37:g.46332275G>A							p.L646L	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	14	2182	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	646					O00521|O00689|O00733|Q59GT5|Q8N2U5	Silent	SNP	ENST00000245934.7	37	c.1938C>T	CCDS12676.2																																																																																				0.652	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		13	86	0	0	0	1	0	13	86				
P2RY10	27334	broad.mit.edu	37	X	78216918	78216918	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:78216918G>A	ENST00000171757.2	+	4	1181	c.901G>A	c.(901-903)Gat>Aat	p.D301N	P2RY10_ENST00000544091.1_Missense_Mutation_p.D301N	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.D301N(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CTGCCTTTTGGATCCAATTCT	0.493																																						ENST00000171757.2																			1	Substitution - Missense(1)	p.D301N(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						c.(901-903)Gat>Aat		purinergic receptor P2Y, G-protein coupled, 10							196.0	180.0	186.0					X																	78216918		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78216918G>A	AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.901G>A	X.37:g.78216918G>A	ENSP00000171757:p.Asp301Asn					P2RY10_ENST00000544091.1_Missense_Mutation_p.D301N	p.D301N	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN			4	1181	+			301					D3DTE5|Q4VBN7|Q86V16	Missense_Mutation	SNP	ENST00000171757.2	37	c.901G>A	CCDS14442.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.421856	0.62622	.	.	ENSG00000078589	ENST00000544091;ENST00000171757	T;T	0.53857	0.6;0.6	4.99	4.99	0.66335	GPCR, rhodopsin-like superfamily (1);	0.056517	0.64402	D	0.000002	T	0.59224	0.2178	L	0.31526	0.94	0.44995	D	0.998015	D	0.60160	0.987	D	0.69142	0.962	T	0.54583	-0.8272	10	0.25106	T	0.35	.	15.8594	0.79009	0.0:0.0:1.0:0.0	.	301	O00398	P2Y10_HUMAN	N	301	ENSP00000443138:D301N;ENSP00000171757:D301N	ENSP00000171757:D301N	D	+	1	0	P2RY10	78103574	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.238000	0.51352	2.311000	0.77944	0.597000	0.82753	GAT		0.493	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1			17	161	0	0	0	1	0	17	161				
TBC1D9	23158	broad.mit.edu	37	4	141600123	141600123	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:141600123G>A	ENST00000442267.2	-	5	898	c.824C>T	c.(823-825)tCt>tTt	p.S275F		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	275							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TTTTTTAGGAGATTTCCTTTT	0.403																																						ENST00000442267.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(823-825)tCt>tTt		TBC1 domain family, member 9 (with GRAM domain)							286.0	271.0	276.0					4																	141600123		1875	4112	5987	SO:0001583	missense	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141600123G>A	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.824C>T	4.37:g.141600123G>A	ENSP00000411197:p.Ser275Phe						p.S275F	NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN			5	898	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	275					A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.824C>T	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032397	0.75504	.	.	ENSG00000109436	ENST00000442267	T	0.09538	2.97	5.45	4.61	0.57282	.	0.055311	0.85682	N	0.000000	T	0.17874	0.0429	L	0.40543	1.245	0.80722	D	1	D	0.56287	0.975	P	0.53146	0.719	T	0.00710	-1.1599	10	0.59425	D	0.04	-5.5366	14.1556	0.65415	0.072:0.0:0.928:0.0	.	275	Q6ZT07	TBCD9_HUMAN	F	275	ENSP00000411197:S275F	ENSP00000411197:S275F	S	-	2	0	TBC1D9	141819573	1.000000	0.71417	0.593000	0.28771	0.921000	0.55340	9.420000	0.97426	1.323000	0.45263	0.555000	0.69702	TCT		0.403	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		13	118	0	0	0	1	0	13	118				
HFM1	164045	broad.mit.edu	37	1	91779552	91779552	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:91779552G>C	ENST00000370425.3	-	29	3304	c.3206C>G	c.(3205-3207)tCt>tGt	p.S1069C	HFM1_ENST00000294696.5_Missense_Mutation_p.S301C|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.S748C	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1069	SEC63.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AAGATCTTCAGATTTAAGAGC	0.274																																						ENST00000370425.3																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(3205-3207)tCt>tGt		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							74.0	87.0	83.0					1																	91779552		2201	4294	6495	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91779552G>C	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.3206C>G	1.37:g.91779552G>C	ENSP00000359454:p.Ser1069Cys					HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.S301C|HFM1_ENST00000370424.3_Missense_Mutation_p.S748C	p.S1069C	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	29	3304	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	1069			SEC63.		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.3206C>G	CCDS30769.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.84|17.84	3.486686|3.486686	0.63962|0.63962	.|.	.|.	ENSG00000162669|ENSG00000162669	ENST00000430465|ENST00000370425;ENST00000294696;ENST00000370424;ENST00000370421	.|T;T;T	.|0.61627	.|0.09;0.09;0.09	5.59|5.59	5.59|5.59	0.84812|0.84812	.|Sec63 domain (2);	.|0.147162	.|0.45867	.|D	.|0.000326	T|T	0.71074|0.71074	0.3297|0.3297	M|M	0.65975|0.65975	2.015|2.015	0.44966|0.44966	D|D	0.997984|0.997984	.|D;D;D	.|0.89917	.|0.999;0.999;1.0	.|D;D;D	.|0.77557	.|0.922;0.99;0.979	T|T	0.70673|0.70673	-0.4807|-0.4807	5|10	.|0.51188	.|T	.|0.08	.|.	19.6008|19.6008	0.95560|0.95560	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|748;280;1069	.|A6NGI5;B1B0B5;A2PYH4	.|.;.;HFM1_HUMAN	V|C	281|1069;301;748;753	.|ENSP00000359454:S1069C;ENSP00000294696:S301C;ENSP00000359453:S748C	.|ENSP00000294696:S301C	L|S	-|-	1|2	2|0	HFM1|HFM1	91552140|91552140	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.759000|0.759000	0.43091|0.43091	4.322000|4.322000	0.59215|0.59215	2.631000|2.631000	0.89168|0.89168	0.650000|0.650000	0.86243|0.86243	CTG|TCT		0.274	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		5	67	0	0	0	1	0	5	67				
OLAH	55301	broad.mit.edu	37	10	15115119	15115119	+	Missense_Mutation	SNP	T	T	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:15115119T>C	ENST00000378228.3	+	8	943	c.689T>C	c.(688-690)aTt>aCt	p.I230T	OLAH_ENST00000485251.1_3'UTR|OLAH_ENST00000378217.3_Missense_Mutation_p.I283T	NM_001039702.2	NP_001034791.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	230					fatty acid biosynthetic process (GO:0006633)		myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						AATGCTAAAATTTACCAGCTT	0.368																																						ENST00000378217.3																			0				endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						c.(847-849)aTt>aCt		oleoyl-ACP hydrolase							86.0	89.0	88.0					10																	15115119		2203	4300	6503	SO:0001583	missense	55301				fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity	g.chr10:15115119T>C	AK001844	CCDS7106.1, CCDS31152.1	10p13	2010-11-23	2006-07-07	2006-07-07	ENSG00000152463	ENSG00000152463	3.1.2.14		25625	protein-coding gene	gene with protein product			"""thioesterase domain containing 1"""	THEDC1			Standard	NM_018324		Approved	FLJ11106, SAST	uc001inu.2	Q9NV23	OTTHUMG00000017724	ENST00000378228.3:c.689T>C	10.37:g.15115119T>C	ENSP00000367473:p.Ile230Thr					OLAH_ENST00000378228.3_Missense_Mutation_p.I230T|OLAH_ENST00000485251.1_3'UTR	p.I283T	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN			9	1035	+			230					Q5VUB6|Q9NUW1	Missense_Mutation	SNP	ENST00000378228.3	37	c.848T>C	CCDS31152.1	.	.	.	.	.	.	.	.	.	.	t	13.01	2.109562	0.37242	.	.	ENSG00000152463	ENST00000378228;ENST00000378217	.	.	.	5.35	-4.55	0.03441	Thioesterase (1);	0.663319	0.15907	N	0.238772	T	0.31544	0.0800	M	0.69185	2.1	0.09310	N	1	B;B	0.31256	0.316;0.244	B;B	0.35470	0.203;0.061	T	0.30794	-0.9966	9	0.46703	T	0.11	-1.2436	0.9693	0.01412	0.2243:0.2765:0.1155:0.3837	.	230;283	Q9NV23;Q9NV23-2	SAST_HUMAN;.	T	230;283	.	ENSP00000367462:I283T	I	+	2	0	OLAH	15155125	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.130000	0.15850	-0.359000	0.08150	0.519000	0.50382	ATT		0.368	OLAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046964.1	NM_018324		4	35	0	0	0	1	0	4	35				
MKI67	4288	broad.mit.edu	37	10	129900912	129900912	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:129900912C>G	ENST00000368654.3	-	13	9567	c.9192G>C	c.(9190-9192)gaG>gaC	p.E3064D	MKI67_ENST00000368653.3_Missense_Mutation_p.E2704D	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	3064					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGCTGTTCAGCTCTTCCGCAG	0.448																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(9190-9192)gaG>gaC		marker of proliferation Ki-67							262.0	236.0	245.0					10																	129900912		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129900912C>G	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.9192G>C	10.37:g.129900912C>G	ENSP00000357643:p.Glu3064Asp					MKI67_ENST00000368653.3_Missense_Mutation_p.E2704D	p.E3064D	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	9567	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	3064					Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.9192G>C	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	8.799	0.932368	0.18131	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.01599	4.78;4.74	3.72	-7.45	0.01374	.	2.024690	0.02319	N	0.072821	T	0.01092	0.0036	N	0.17082	0.46	0.09310	N	1	B;B;B	0.17038	0.02;0.02;0.012	B;B;B	0.12837	0.008;0.008;0.004	T	0.46693	-0.9173	10	0.17369	T	0.5	.	2.0883	0.03650	0.151:0.3524:0.1058:0.3908	.	3063;2704;3064	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	D	3064;2704;3063	ENSP00000357643:E3064D;ENSP00000357642:E2704D	ENSP00000357642:E2704D	E	-	3	2	MKI67	129790902	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.421000	0.07053	-2.830000	0.00339	-0.457000	0.05445	GAG		0.448	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		10	92	0	0	0	1	0	10	92				
ANGPTL1	9068	broad.mit.edu	37	1	178834847	178834847	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:178834847C>G	ENST00000234816.2	-	3	512	c.65G>C	c.(64-66)aGa>aCa	p.R22T	RALGPS2_ENST00000367635.3_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.R22T|RALGPS2_ENST00000367634.2_Intron	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	22					transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						TTGTCCACCTCTGCAATGTCC	0.383																																						ENST00000234816.2																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						c.(64-66)aGa>aCa		angiopoietin-like 1							71.0	70.0	70.0					1																	178834847		2203	4299	6502	SO:0001583	missense	9068					extracellular space	receptor binding	g.chr1:178834847C>G	AF107253	CCDS1327.1	1q25.2	2013-02-06			ENSG00000116194	ENSG00000116194		"""Fibrinogen C domain containing"""	489	protein-coding gene	gene with protein product	"""angioarrestin"""	603874		ANGPT3		10025962, 9286704	Standard	NM_004673		Approved	ANG3, AngY, ARP1	uc001gma.3	O95841	OTTHUMG00000035075	ENST00000234816.2:c.65G>C	1.37:g.178834847C>G	ENSP00000234816:p.Arg22Thr					RALGPS2_ENST00000367634.2_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.R22T|RALGPS2_ENST00000367635.3_Intron|RALGPS2_ENST00000324778.4_Intron	p.R22T	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN			3	512	-			22					Q5T5Z5	Missense_Mutation	SNP	ENST00000234816.2	37	c.65G>C	CCDS1327.1	.	.	.	.	.	.	.	.	.	.	C	10.18	1.278353	0.23307	.	.	ENSG00000116194	ENST00000234816;ENST00000367629;ENST00000415564;ENST00000444255	T;T	0.54866	0.55;0.55	5.63	3.69	0.42338	.	0.502812	0.25004	N	0.033884	T	0.18800	0.0451	N	0.01352	-0.895	0.20638	N	0.999873	B	0.02656	0.0	B	0.01281	0.0	T	0.18272	-1.0342	10	0.13108	T	0.6	.	5.7247	0.18006	0.0:0.5157:0.281:0.2032	.	22	O95841	ANGL1_HUMAN	T	22	ENSP00000234816:R22T;ENSP00000356601:R22T	ENSP00000234816:R22T	R	-	2	0	ANGPTL1	177101470	0.964000	0.33143	0.937000	0.37676	0.927000	0.56198	0.170000	0.16663	1.363000	0.46019	0.650000	0.86243	AGA		0.383	ANGPTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084924.1	NM_004673		5	77	0	0	0	1	0	5	77				
SLC35B2	347734	broad.mit.edu	37	6	44224543	44224543	+	Silent	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:44224543C>A	ENST00000393812.3	-	2	227	c.84G>T	c.(82-84)ccG>ccT	p.P28P	SLC35B2_ENST00000495706.1_Intron|SLC35B2_ENST00000537814.1_Intron|SLC35B2_ENST00000538577.1_5'UTR|MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000393810.1_Silent_p.P28P	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	28					3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCCATGACTCCGGAGGGGCTT	0.577																																						ENST00000393812.3																			0				breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15						c.(82-84)ccG>ccT		solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2							78.0	84.0	82.0					6																	44224543		2203	4300	6503	SO:0001819	synonymous_variant	347734				positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity	g.chr6:44224543C>A	AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"""Solute carriers"""	16872	protein-coding gene	gene with protein product		610788	"""solute carrier family 35, member B2"""				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.84G>T	6.37:g.44224543C>A						SLC35B2_ENST00000537814.1_Intron|SLC35B2_ENST00000538577.1_5'UTR|SLC35B2_ENST00000495706.1_Intron|SLC35B2_ENST00000393810.1_Silent_p.P28P	p.P28P	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		2	227	-	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		28					B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	Silent	SNP	ENST00000393812.3	37	c.84G>T	CCDS34462.1																																																																																				0.577	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040724.2			18	109	1	0	6.94344e-10	1	7.55099e-10	18	109				
TGM4	7047	broad.mit.edu	37	3	44952512	44952512	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:44952512G>C	ENST00000296125.4	+	12	1737	c.1669G>C	c.(1669-1671)Gat>Cat	p.D557H		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	557					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TATATTAGATGATGAGCCAGT	0.463																																						ENST00000296125.4																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(1669-1671)Gat>Cat		transglutaminase 4	L-Glutamine(DB00130)						119.0	109.0	112.0					3																	44952512		2203	4300	6503	SO:0001583	missense	7047				peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr3:44952512G>C	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.1669G>C	3.37:g.44952512G>C	ENSP00000296125:p.Asp557His						p.D557H	NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	12	1737	+			557					Q16707|Q96QN4	Missense_Mutation	SNP	ENST00000296125.4	37	c.1669G>C	CCDS2723.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.324765	0.41197	.	.	ENSG00000163810	ENST00000296125	T	0.79454	-1.27	2.88	1.94	0.25998	Transglutaminase, C-terminal (1);Immunoglobulin-like fold (1);	0.000000	0.45867	U	0.000328	T	0.73249	0.3563	N	0.08118	0	0.41821	D	0.990022	D	0.89917	1.0	D	0.72075	0.976	T	0.75294	-0.3368	10	0.87932	D	0	.	10.3317	0.43827	0.0:0.2019:0.7981:0.0	.	557	P49221	TGM4_HUMAN	H	557	ENSP00000296125:D557H	ENSP00000296125:D557H	D	+	1	0	TGM4	44927516	0.974000	0.33945	0.033000	0.17914	0.015000	0.08874	2.156000	0.42310	0.439000	0.26476	0.563000	0.77884	GAT		0.463	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241		6	31	0	0	0	1	0	6	31				
EIF4H	7458	broad.mit.edu	37	7	73588769	73588769	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:73588769G>A	ENST00000265753.8	+	1	195	c.56G>A	c.(55-57)aGa>aAa	p.R19K	EIF4H_ENST00000353999.6_Missense_Mutation_p.R19K	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	19					cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|sexual reproduction (GO:0019953)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(1)|lung(2)|prostate(1)	4						GGCGGCGGCAGAGGGTGAGGC	0.746																																						ENST00000265753.8																			0				endometrium(1)|lung(2)|prostate(1)	4						c.(55-57)aGa>aAa		eukaryotic translation initiation factor 4H							17.0	17.0	17.0					7																	73588769		2200	4292	6492	SO:0001583	missense	7458				interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity	g.chr7:73588769G>A		CCDS5564.1, CCDS5565.1	7q11.23	2013-02-12	2006-11-27	2006-11-27	ENSG00000106682	ENSG00000106682		"""RNA binding motif (RRM) containing"""	12741	protein-coding gene	gene with protein product		603431	"""Williams-Beuren syndrome chromosome region 1"""	WBSCR1		9516461, 15078951	Standard	NM_022170		Approved	WSCR1, KIAA0038	uc003uad.1	Q15056	OTTHUMG00000023025	ENST00000265753.8:c.56G>A	7.37:g.73588769G>A	ENSP00000265753:p.Arg19Lys					EIF4H_ENST00000353999.6_Missense_Mutation_p.R19K	p.R19K	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN			1	195	+			19					A8K3R1|D3DXF6|D3DXF8	Missense_Mutation	SNP	ENST00000265753.8	37	c.56G>A	CCDS5564.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.854929	0.91355	.	.	ENSG00000106682	ENST00000265753;ENST00000353999	T;T	0.33865	1.4;1.39	4.1	3.19	0.36642	.	0.141163	0.44902	U	0.000410	T	0.28366	0.0701	L	0.61218	1.895	0.51482	D	0.999923	P;P;B;B	0.42584	0.784;0.533;0.001;0.003	B;B;B;B	0.28916	0.064;0.096;0.009;0.004	T	0.09840	-1.0656	10	0.22706	T	0.39	0.0062	12.8038	0.57601	0.0:0.1661:0.8339:0.0	.	19;19;19;19	B4DMV6;Q75MU2;Q15056-2;Q15056	.;.;.;IF4H_HUMAN	K	19	ENSP00000265753:R19K;ENSP00000265754:R19K	ENSP00000265753:R19K	R	+	2	0	EIF4H	73226705	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.737000	0.62066	0.797000	0.33971	0.462000	0.41574	AGA		0.746	EIF4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252375.2	NM_022170		5	22	0	0	0	1	0	5	22				
LRP2	4036	broad.mit.edu	37	2	170062596	170062596	+	Missense_Mutation	SNP	G	G	A	rs142613860		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:170062596G>A	ENST00000263816.3	-	40	7778	c.7493C>T	c.(7492-7494)tCt>tTt	p.S2498F		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2498					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	AGTGCGGTTAGACCCATCTTC	0.438																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(7492-7494)tCt>tTt		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						160.0	151.0	154.0					2																	170062596		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170062596G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7493C>T	2.37:g.170062596G>A	ENSP00000263816:p.Ser2498Phe						p.S2498F	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	40	7778	-			2498					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.7493C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.205859	0.58234	.	.	ENSG00000081479	ENST00000263816	D	0.91631	-2.88	6.17	6.17	0.99709	Six-bladed beta-propeller, TolB-like (1);	0.099099	0.64402	D	0.000001	D	0.93697	0.7986	M	0.88181	2.935	0.80722	D	1	B	0.26744	0.158	B	0.19148	0.024	D	0.90956	0.4809	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	2498	P98164	LRP2_HUMAN	F	2498	ENSP00000263816:S2498F	ENSP00000263816:S2498F	S	-	2	0	LRP2	169770842	1.000000	0.71417	0.972000	0.41901	0.656000	0.38851	6.608000	0.74168	2.941000	0.99782	0.655000	0.94253	TCT		0.438	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		19	99	0	0	0	1	0	19	99				
SLC25A40	55972	broad.mit.edu	37	7	87465580	87465580	+	Missense_Mutation	SNP	C	C	T	rs146277655		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:87465580C>T	ENST00000341119.5	-	12	1347	c.1001G>A	c.(1000-1002)cGa>cAa	p.R334Q		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	334					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					TTGCTGCCTTCGAACATTTTG	0.368																																						ENST00000341119.5																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17						c.(1000-1002)cGa>cAa		solute carrier family 25, member 40		C	GLN/ARG	0,4406		0,0,2203	53.0	53.0	53.0		1001	-8.8	0.0	7	dbSNP_134	53	1,8597	1.2+/-3.3	0,1,4298	no	missense	SLC25A40	NM_018843.3	43	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	334/339	87465580	1,13003	2203	4299	6502	SO:0001583	missense	55972				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr7:87465580C>T	AF125531	CCDS5610.1	7q21.12	2013-05-22			ENSG00000075303	ENSG00000075303		"""Solute carriers"""	29680	protein-coding gene	gene with protein product		610821				16949250	Standard	NM_018843		Approved	MCFP	uc003uje.3	Q8TBP6	OTTHUMG00000131033	ENST00000341119.5:c.1001G>A	7.37:g.87465580C>T	ENSP00000344831:p.Arg334Gln						p.R334Q	NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN			12	1347	-	Esophageal squamous(14;0.00202)		334					A8K483|D6W5P6|Q53GB1|Q9UHR1	Missense_Mutation	SNP	ENST00000341119.5	37	c.1001G>A	CCDS5610.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.787306	0.31593	0.0	1.16E-4	ENSG00000075303	ENST00000341119	T	0.80738	-1.41	5.63	-8.79	0.00820	.	1.295420	0.04979	N	0.465233	T	0.65657	0.2712	N	0.11560	0.145	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.53865	-0.8378	10	0.22109	T	0.4	.	21.9023	0.99963	0.0:0.1554:0.0:0.8446	.	334	Q8TBP6	S2540_HUMAN	Q	334	ENSP00000344831:R334Q	ENSP00000344831:R334Q	R	-	2	0	SLC25A40	87303516	0.000000	0.05858	0.000000	0.03702	0.446000	0.32137	0.179000	0.16840	-2.042000	0.00914	-0.355000	0.07637	CGA		0.368	SLC25A40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253677.5	NM_018843		3	30	0	0	0	1	0	3	30				
C1orf35	79169	broad.mit.edu	37	1	228288913	228288913	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:228288913G>C	ENST00000272139.4	-	8	945	c.711C>G	c.(709-711)tgC>tgG	p.C237W	C1orf35_ENST00000472617.1_5'UTR	NM_024319.2	NP_077295.1	Q9BU76	MMTA2_HUMAN	chromosome 1 open reading frame 35	237							poly(A) RNA binding (GO:0044822)			large_intestine(1)|lung(1)|skin(1)	3		Prostate(94;0.0488)				TCCTCTTACAGCAGGGGGAGT	0.642																																						ENST00000272139.4																			0				large_intestine(1)|lung(1)|skin(1)	3						c.(709-711)tgC>tgG		chromosome 1 open reading frame 35							95.0	84.0	88.0					1																	228288913		2203	4300	6503	SO:0001583	missense	79169							g.chr1:228288913G>C	AY137773	CCDS1566.1	1q42.13	2012-06-25			ENSG00000143793	ENSG00000143793			19032	protein-coding gene	gene with protein product	"""multiple myeloma tumor-associated protein 2"""					12545221	Standard	NM_024319		Approved	MGC4174, MMTAG2	uc001hrx.3	Q9BU76	OTTHUMG00000037793	ENST00000272139.4:c.711C>G	1.37:g.228288913G>C	ENSP00000272139:p.Cys237Trp					C1orf35_ENST00000472617.1_5'UTR	p.C237W	NM_024319.2	NP_077295.1	Q9BU76	MMTA2_HUMAN			8	945	-		Prostate(94;0.0488)	237					Q6P5Y0|Q6ZTZ6|Q6ZWA6|Q8IZH3	Missense_Mutation	SNP	ENST00000272139.4	37	c.711C>G	CCDS1566.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.316943	0.40996	.	.	ENSG00000143793	ENST00000272139	.	.	.	3.44	2.53	0.30540	.	0.294986	0.32120	N	0.006545	T	0.22898	0.0553	N	0.14661	0.345	0.28709	N	0.903652	D	0.54047	0.964	P	0.46685	0.524	T	0.05550	-1.0878	9	0.38643	T	0.18	-15.563	7.6035	0.28089	0.1201:0.0:0.8799:0.0	.	237	Q9BU76	MMTA2_HUMAN	W	237	.	ENSP00000272139:C237W	C	-	3	2	C1orf35	226355536	0.003000	0.15002	0.565000	0.28409	0.720000	0.41350	1.198000	0.32223	1.014000	0.39417	-0.663000	0.03849	TGC		0.642	C1orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092245.1	NM_024319		6	59	0	0	0	1	0	6	59				
LINC01410	103352539	broad.mit.edu	37	9	66458041	66458041	+	lincRNA	SNP	G	G	A	rs12352308		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr9:66458041G>A	ENST00000424345.1	+	0	67				RNA5SP283_ENST00000365604.1_RNA																							GAGGTCCTGGGCTTCGGCTGG	0.697																																						ENST00000424345.1																			0																																																			0							g.chr9:66458041G>A																													9.37:g.66458041G>A														0	67	+									RNA	SNP	ENST00000424345.1	37																																																																																						0.697	RP11-262H14.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000128851.1			3	18	0	0	0	1	0	3	18				
HMCN1	83872	broad.mit.edu	37	1	186008973	186008973	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:186008973G>C	ENST00000271588.4	+	39	6371	c.6142G>C	c.(6142-6144)Gat>Cat	p.D2048H	HMCN1_ENST00000367492.2_Missense_Mutation_p.D2048H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2048	Ig-like C2-type 18.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTGGTTGAAAGATGGGAGTCC	0.433																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(6142-6144)Gat>Cat		hemicentin 1							151.0	142.0	145.0					1																	186008973		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186008973G>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.6142G>C	1.37:g.186008973G>C	ENSP00000271588:p.Asp2048His					HMCN1_ENST00000367492.2_Missense_Mutation_p.D2048H	p.D2048H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			39	6371	+			2048			Ig-like C2-type 18.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.6142G>C	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.659768	0.88154	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.75821	-0.97;-0.97	5.0	5.0	0.66597	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.047553	0.85682	D	0.000000	D	0.89636	0.6772	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92064	0.5659	10	0.72032	D	0.01	.	18.2473	0.89991	0.0:0.0:1.0:0.0	.	2048	Q96RW7	HMCN1_HUMAN	H	2048	ENSP00000271588:D2048H;ENSP00000356462:D2048H	ENSP00000271588:D2048H	D	+	1	0	HMCN1	184275596	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.520000	0.81821	2.466000	0.83321	0.650000	0.86243	GAT		0.433	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		16	76	0	0	0	1	0	16	76				
GPAT2	150763	broad.mit.edu	37	2	96690526	96690526	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:96690526G>A	ENST00000434632.1	-	15	1882	c.1423C>T	c.(1423-1425)Cag>Tag	p.Q475*	GPAT2_ENST00000359548.4_Nonsense_Mutation_p.Q475*|GPAT2_ENST00000453542.1_Nonsense_Mutation_p.Q404*|FAHD2CP_ENST00000607780.1_RNA|GPAT2_ENST00000377137.3_Nonsense_Mutation_p.Q475*			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	475					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CCTACCTTCTGATGCTTGAAG	0.652																																						ENST00000434632.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						c.(1423-1425)Cag>Tag		glycerol-3-phosphate acyltransferase 2, mitochondrial							120.0	129.0	126.0					2																	96690526		2042	4171	6213	SO:0001587	stop_gained	150763				glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr2:96690526G>A	BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"""cancer/testis antigen 123"""					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.1423C>T	2.37:g.96690526G>A	ENSP00000389395:p.Gln475*					GPAT2_ENST00000359548.4_Nonsense_Mutation_p.Q475*|GPAT2_ENST00000377137.3_Nonsense_Mutation_p.Q475*|GPAT2_ENST00000453542.1_Nonsense_Mutation_p.Q404*	p.Q475*			Q6NUI2	GPAT2_HUMAN			15	1882	-			475					Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Nonsense_Mutation	SNP	ENST00000434632.1	37	c.1423C>T	CCDS42714.1	.	.	.	.	.	.	.	.	.	.	g	28.5	4.929155	0.92389	.	.	ENSG00000186281	ENST00000359548;ENST00000434632;ENST00000453542;ENST00000377137	.	.	.	5.36	4.48	0.54585	.	0.553969	0.18649	N	0.135080	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-41.5369	9.8777	0.41213	0.0943:0.0:0.9057:0.0	.	.	.	.	X	475;475;404;475	.	ENSP00000352547:Q475X	Q	-	1	0	GPAT2	96054253	1.000000	0.71417	0.953000	0.39169	0.434000	0.31775	5.405000	0.66351	1.272000	0.44329	0.637000	0.83480	CAG		0.652	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	NM_207328		22	265	0	0	0	1	0	22	265				
IL1R1	3554	broad.mit.edu	37	2	102792941	102792941	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:102792941C>G	ENST00000410023.1	+	12	1750	c.1432C>G	c.(1432-1434)Ctt>Gtt	p.L478V	AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000409929.1_Missense_Mutation_p.L447V|IL1R1_ENST00000424272.1_3'UTR|IL1R1_ENST00000233946.3_Missense_Mutation_p.L478V			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	478	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|interleukin-1-mediated signaling pathway (GO:0070498)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)|platelet-derived growth factor receptor binding (GO:0005161)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	GTATAATGCTCTTGTTCAGGA	0.388																																						ENST00000410023.1																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19						c.(1432-1434)Ctt>Gtt		interleukin 1 receptor, type I	Anakinra(DB00026)						70.0	68.0	69.0					2																	102792941		2203	4300	6503	SO:0001583	missense	3554				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding	g.chr2:102792941C>G	M27492	CCDS2055.1, CCDS74547.1	2q12	2013-01-29			ENSG00000115594	ENSG00000115594		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5993	protein-coding gene	gene with protein product		147810		IL1R, IL1RA		1833184, 10191101	Standard	XM_005263929		Approved	D2S1473, CD121A	uc002tbr.3	P14778	OTTHUMG00000130783	ENST00000410023.1:c.1432C>G	2.37:g.102792941C>G	ENSP00000386380:p.Leu478Val					IL1R1_ENST00000424272.1_3'UTR|IL1R1_ENST00000409929.1_Missense_Mutation_p.L447V|AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000233946.3_Missense_Mutation_p.L478V	p.L478V			P14778	IL1R1_HUMAN			12	1750	+			478			TIR.		Q587I7	Missense_Mutation	SNP	ENST00000410023.1	37	c.1432C>G	CCDS2055.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.769703	0.69992	.	.	ENSG00000115594	ENST00000409929;ENST00000410023;ENST00000233946	T;T;T	0.10477	2.87;2.87;2.87	5.61	4.71	0.59529	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.128869	0.53938	D	0.000049	T	0.37705	0.1013	M	0.87827	2.91	0.41375	D	0.987511	D;D	0.76494	0.998;0.999	D;D	0.79108	0.988;0.992	T	0.43653	-0.9378	10	0.87932	D	0	.	13.6895	0.62537	0.0:0.9231:0.0:0.0769	.	447;478	B8ZZW4;P14778	.;IL1R1_HUMAN	V	447;478;478	ENSP00000386776:L447V;ENSP00000386380:L478V;ENSP00000233946:L478V	ENSP00000233946:L478V	L	+	1	0	IL1R1	102159373	1.000000	0.71417	0.595000	0.28798	0.983000	0.72400	4.067000	0.57527	1.309000	0.44985	0.563000	0.77884	CTT		0.388	IL1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253299.1			5	45	0	0	0	1	0	5	45				
VWF	7450	broad.mit.edu	37	12	6153567	6153567	+	Missense_Mutation	SNP	C	C	T	rs146892641		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:6153567C>T	ENST00000261405.5	-	18	2586	c.2332G>A	c.(2332-2334)Gct>Act	p.A778T		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	778	Amino-terminal.|TIL 3.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGGTTGTCAGCGGGACACACC	0.562													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22003	0.0		0.0	False		,,,				2504	0.0					ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(2332-2334)Gct>Act		von Willebrand factor	Antihemophilic Factor(DB00025)	C	THR/ALA	3,4403	6.2+/-15.9	0,3,2200	84.0	70.0	75.0		2332	3.3	1.0	12	dbSNP_134	75	0,8600		0,0,4300	no	missense	VWF	NM_000552.3	58	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign	778/2814	6153567	3,13003	2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6153567C>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.2332G>A	12.37:g.6153567C>T	ENSP00000261405:p.Ala778Thr						p.A778T	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			18	2586	-			778			Amino-terminal.|TIL 3.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.2332G>A	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.234295	0.58886	6.81E-4	0.0	ENSG00000110799	ENST00000261405	T	0.80033	-1.33	4.19	3.27	0.37495	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (1);	0.450854	0.16405	N	0.215846	T	0.78748	0.4332	L	0.54323	1.7	0.80722	D	1	P	0.48407	0.91	P	0.45428	0.48	T	0.76621	-0.2892	10	0.40728	T	0.16	.	12.8803	0.58014	0.0:0.835:0.1649:0.0	.	778	P04275	VWF_HUMAN	T	778	ENSP00000261405:A778T	ENSP00000261405:A778T	A	-	1	0	VWF	6023828	0.411000	0.25384	0.986000	0.45419	0.774000	0.43823	0.876000	0.28092	0.949000	0.37715	0.563000	0.77884	GCT		0.562	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		16	30	0	0	0	1	0	16	30				
PIP5K1C	23396	broad.mit.edu	37	19	3656427	3656427	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:3656427C>T	ENST00000335312.3	-	6	685	c.597G>A	c.(595-597)caG>caA	p.Q199Q	PIP5K1C_ENST00000587482.1_5'UTR|PIP5K1C_ENST00000589578.1_Silent_p.Q199Q|PIP5K1C_ENST00000537021.1_Silent_p.Q199Q|PIP5K1C_ENST00000539785.1_Silent_p.Q199Q	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	199	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		GGAGCAGCTTCTGCAGGAACT	0.642																																					Esophageal Squamous(135;99 1744 12852 27186 39851)	ENST00000335312.3																			0				large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9						c.(595-597)caG>caA		phosphatidylinositol-4-phosphate 5-kinase, type I, gamma							70.0	72.0	71.0					19																	3656427		2203	4300	6503	SO:0001819	synonymous_variant	23396				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	g.chr19:3656427C>T	AB011161	CCDS32872.1, CCDS56074.1, CCDS74257.1	19p13.3	2012-10-02			ENSG00000186111	ENSG00000186111			8996	protein-coding gene	gene with protein product		606102				9535851	Standard	NM_001195733		Approved	PIP5Kgamma, KIAA0589, LCCS3	uc002lyj.2	O60331	OTTHUMG00000180870	ENST00000335312.3:c.597G>A	19.37:g.3656427C>T						PIP5K1C_ENST00000589578.1_Silent_p.Q199Q|PIP5K1C_ENST00000587482.1_5'UTR|PIP5K1C_ENST00000539785.1_Silent_p.Q199Q|PIP5K1C_ENST00000537021.1_Silent_p.Q199Q	p.Q199Q	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)	6	685	-		Hepatocellular(1079;0.137)	199			PIPK.		B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Silent	SNP	ENST00000335312.3	37	c.597G>A	CCDS32872.1																																																																																				0.642	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453432.2	NM_012398		11	58	0	0	0	1	0	11	58				
IL4I1	259307	broad.mit.edu	37	19	50393136	50393136	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:50393136G>A	ENST00000391826.2	-	8	1637	c.1495C>T	c.(1495-1497)Cgc>Tgc	p.R499C	IL4I1_ENST00000341114.3_Missense_Mutation_p.R521C|MIR4750_ENST00000584564.1_RNA|IL4I1_ENST00000595948.1_Missense_Mutation_p.R521C	NM_152899.1	NP_690863.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	499						extracellular region (GO:0005576)|lysosome (GO:0005764)	L-amino-acid oxidase activity (GO:0001716)			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	Flavin adenine dinucleotide(DB03147)	ATGGCGGCGCGCAGCGCCGAC	0.667																																						ENST00000595948.1																			0				endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(1561-1563)Cgc>Tgc		interleukin 4 induced 1							24.0	22.0	23.0					19																	50393136		2200	4290	6490	SO:0001583	missense	259307					lysosome	L-amino-acid oxidase activity	g.chr19:50393136G>A	AF293462	CCDS12786.1, CCDS12787.1	19q13.3-q13.4	2014-06-26				ENSG00000104951			19094	protein-coding gene	gene with protein product		609742				12031486	Standard	NM_152899		Approved	FIG1	uc002pqt.1	Q96RQ9		ENST00000391826.2:c.1495C>T	19.37:g.50393136G>A	ENSP00000375702:p.Arg499Cys					IL4I1_ENST00000341114.3_Missense_Mutation_p.R521C|IL4I1_ENST00000391826.2_Missense_Mutation_p.R499C	p.R521C	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	10	2181	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	499					Q1WMJ3|Q4GZN1|Q4GZN2|Q6P2Q3|Q8TEM5|Q96RQ8	Missense_Mutation	SNP	ENST00000391826.2	37	c.1561C>T	CCDS12787.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.626691	0.87560	.	.	ENSG00000104951	ENST00000341114;ENST00000391826	D;D	0.95238	-3.65;-3.65	5.53	3.32	0.38043	Amine oxidase (1);	0.099589	0.64402	D	0.000003	D	0.96700	0.8923	M	0.81942	2.565	0.50313	D	0.999869	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96159	0.9114	10	0.87932	D	0	-60.4748	10.9689	0.47428	0.0:0.0:0.6593:0.3407	.	521;521;499	Q96RQ9-2;Q1WMJ3;Q96RQ9	.;.;OXLA_HUMAN	C	521;499	ENSP00000342557:R521C;ENSP00000375702:R499C	ENSP00000342557:R521C	R	-	1	0	IL4I1	55084948	1.000000	0.71417	0.080000	0.20451	0.306000	0.27790	3.180000	0.50895	0.649000	0.30751	0.561000	0.74099	CGC		0.667	IL4I1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466413.1			10	30	0	0	0	1	0	10	30				
CNPY4	245812	broad.mit.edu	37	7	99722494	99722494	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:99722494G>A	ENST00000262932.3	+	6	862	c.730G>A	c.(730-732)Gac>Aac	p.D244N	RP11-506M12.1_ENST00000494221.1_RNA|MBLAC1_ENST00000398075.2_5'Flank|CNPY4_ENST00000480692.1_3'UTR	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4	244						extracellular region (GO:0005576)				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCCAAACTTGACCGAGAAGA	0.557																																						ENST00000262932.3																			0				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(730-732)Gac>Aac		canopy FGF signaling regulator 4							154.0	141.0	146.0					7																	99722494		2203	4300	6503	SO:0001583	missense	245812					extracellular region		g.chr7:99722494G>A	AK075537	CCDS34701.1	7q22.1	2013-07-23	2013-07-23		ENSG00000166997	ENSG00000166997			28631	protein-coding gene	gene with protein product	"""protein associated with TLR4"""	610047	"""canopy 4 homolog (zebrafish)"""			12975309	Standard	NM_152755		Approved	MGC40499, PRAT4B	uc003uto.3	Q8N129	OTTHUMG00000154817	ENST00000262932.3:c.730G>A	7.37:g.99722494G>A	ENSP00000262932:p.Asp244Asn					CNPY4_ENST00000480692.1_3'UTR|RP11-506M12.1_ENST00000494221.1_RNA	p.D244N	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN			6	862	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		244					Q8WUN9	Missense_Mutation	SNP	ENST00000262932.3	37	c.730G>A	CCDS34701.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.909072	0.33721	.	.	ENSG00000166997	ENST00000262932	T	0.35605	1.3	4.17	3.29	0.37713	.	0.000000	0.64402	D	0.000001	T	0.23572	0.0570	L	0.29908	0.895	0.32796	N	0.500483	B	0.13145	0.007	B	0.08055	0.003	T	0.18555	-1.0333	10	0.34782	T	0.22	-17.3872	8.1282	0.31012	0.1084:0.0:0.8916:0.0	.	244	Q8N129	CNPY4_HUMAN	N	244	ENSP00000262932:D244N	ENSP00000262932:D244N	D	+	1	0	CNPY4	99560430	1.000000	0.71417	0.993000	0.49108	0.013000	0.08279	3.175000	0.50855	1.359000	0.45940	0.561000	0.74099	GAC		0.557	CNPY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337224.4	NM_152755		11	158	0	0	0	1	0	11	158				
ZFP82	284406	broad.mit.edu	37	19	36896496	36896496	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:36896496C>T	ENST00000392161.3	-	4	457	c.215G>A	c.(214-216)aGa>aAa	p.R72K	ZFP82_ENST00000392171.1_Intron	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	72	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATATTGTCTTCTTCCTTTCCT	0.438																																						ENST00000392161.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(214-216)aGa>aAa		ZFP82 zinc finger protein							163.0	139.0	147.0					19																	36896496		2203	4300	6503	SO:0001583	missense	284406				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36896496C>T	AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"""Zinc fingers, C2H2-type"", ""-"""	28682	protein-coding gene	gene with protein product			"""zinc finger protein 545"", ""zinc finger protein 82 homolog (mouse)"", ""zinc finger protein 82"""	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.215G>A	19.37:g.36896496C>T	ENSP00000431265:p.Arg72Lys					ZFP82_ENST00000392171.1_Intron	p.R72K	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN			4	457	-			72			KRAB.		Q8NC63|Q8TF53	Missense_Mutation	SNP	ENST00000392161.3	37	c.215G>A	CCDS12493.1	.	.	.	.	.	.	.	.	.	.	C	0.271	-0.992592	0.02162	.	.	ENSG00000181007	ENST00000392161	T	0.06528	3.29	4.05	1.95	0.26073	Krueppel-associated box (1);	0.490864	0.15175	N	0.276413	T	0.03564	0.0102	N	0.26130	0.795	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32348	-0.9910	10	0.02654	T	1	.	6.424	0.21760	0.0:0.7807:0.0:0.2193	.	72	Q8N141	ZFP82_HUMAN	K	72	ENSP00000431265:R72K	ENSP00000431265:R72K	R	-	2	0	ZFP82	41588336	0.000000	0.05858	0.757000	0.31301	0.499000	0.33736	-0.328000	0.07945	0.683000	0.31428	0.650000	0.86243	AGA		0.438	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2	NM_133466		7	38	0	0	0	1	0	7	38				
DISC1	27185	broad.mit.edu	37	1	231935886	231935886	+	Silent	SNP	G	G	A	rs201489476		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:231935886G>A	ENST00000602281.1	+	8	1775	c.1722G>A	c.(1720-1722)ctG>ctA	p.L574L	DISC1_ENST00000366633.3_Silent_p.L574L|DISC1_ENST00000366636.4_Silent_p.L574L|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000439617.2_Silent_p.L574L|DISC1_ENST00000539444.1_Intron|DISC1_ENST00000535983.1_Silent_p.L574L|DISC1_ENST00000537876.1_Intron|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000602873.1_Intron	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	574	Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Required for localization to punctate cytoplasmic foci.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GCAGCACCCTGAGGAAGAAAG	0.448																																						ENST00000439617.2																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						c.(1720-1722)ctG>ctA		disrupted in schizophrenia 1							117.0	109.0	112.0					1																	231935886		2199	4294	6493	SO:0001819	synonymous_variant	27185				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding	g.chr1:231935886G>A	AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.1722G>A	1.37:g.231935886G>A						TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000602281.1_Silent_p.L574L|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000366633.3_Silent_p.L574L|DISC1_ENST00000366636.4_Silent_p.L574L|DISC1_ENST00000535983.1_Silent_p.L574L|DISC1_ENST00000539444.1_Intron|DISC1_ENST00000537876.1_Intron	p.L574L	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN			8	1775	+		all_cancers(173;0.0208)|Prostate(94;0.0975)	574			Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Required for localization to punctate cytoplasmic foci.		A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Silent	SNP	ENST00000602281.1	37	c.1722G>A	CCDS59205.1																																																																																				0.448	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467451.1	NM_018662		4	51	0	0	0	1	0	4	51				
PREX2	80243	broad.mit.edu	37	8	69103983	69103983	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr8:69103983C>T	ENST00000288368.4	+	36	4650	c.4373C>T	c.(4372-4374)tCa>tTa	p.S1458L		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1458					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AAGTCAAATTCACCACCAAAC	0.303																																						ENST00000288368.4																			0				NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(4372-4374)tCa>tTa		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2							105.0	104.0	104.0					8																	69103983		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69103983C>T	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.4373C>T	8.37:g.69103983C>T	ENSP00000288368:p.Ser1458Leu						p.S1458L	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN			36	4650	+			1458					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.4373C>T	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	C	7.544	0.661239	0.14645	.	.	ENSG00000046889	ENST00000288368	T	0.57436	0.4	5.48	5.48	0.80851	.	0.351137	0.27340	N	0.019801	T	0.15955	0.0384	N	0.00538	-1.39	0.30890	N	0.730475	B	0.02656	0.0	B	0.01281	0.0	T	0.27262	-1.0079	10	0.02654	T	1	.	8.3473	0.32281	0.0:0.8325:0.0:0.1675	.	1458	Q70Z35	PREX2_HUMAN	L	1458	ENSP00000288368:S1458L	ENSP00000288368:S1458L	S	+	2	0	PREX2	69266537	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.287000	0.59001	2.729000	0.93468	0.650000	0.86243	TCA		0.303	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		7	23	0	0	0	1	0	7	23				
SDK1	221935	broad.mit.edu	37	7	4050669	4050669	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:4050669C>G	ENST00000404826.2	+	15	2342	c.2203C>G	c.(2203-2205)Ccg>Gcg	p.P735A	SDK1_ENST00000389531.3_Missense_Mutation_p.P735A	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	735	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGGCCTGACTCCGGCTCGTAC	0.572																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(2203-2205)Ccg>Gcg		sidekick cell adhesion molecule 1							61.0	55.0	57.0					7																	4050669		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4050669C>G	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.2203C>G	7.37:g.4050669C>G	ENSP00000385899:p.Pro735Ala					SDK1_ENST00000389531.3_Missense_Mutation_p.P735A	p.P735A	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	15	2342	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	735			Fibronectin type-III 1.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.2203C>G	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736382	0.69189	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.66638	-0.22;-0.22	5.55	5.55	0.83447	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.82318	0.5011	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.78272	-0.2268	10	0.19147	T	0.46	.	19.5219	0.95189	0.0:1.0:0.0:0.0	.	735;735	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	A	735	ENSP00000385899:P735A;ENSP00000374182:P735A	ENSP00000374182:P735A	P	+	1	0	SDK1	4017195	1.000000	0.71417	0.800000	0.32199	0.888000	0.51559	7.385000	0.79763	2.606000	0.88127	0.655000	0.94253	CCG		0.572	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		4	45	0	0	0	1	0	4	45				
RAD52	5893	broad.mit.edu	37	12	1036411	1036411	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:1036411C>T	ENST00000358495.3	-	6	505	c.367G>A	c.(367-369)Gat>Aat	p.D123N	RAD52_ENST00000430095.2_Missense_Mutation_p.D123N|RAD52_ENST00000536177.1_Missense_Mutation_p.D123N|RAD52_ENST00000545564.1_Missense_Mutation_p.D123N|RAD52_ENST00000539046.1_Missense_Mutation_p.D46N	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	123					DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			TAACCAACATCTTCATGATAT	0.537								Homologous recombination																														ENST00000358495.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(367-369)Gat>Aat	Homologous recombination	RAD52 homolog (S. cerevisiae)							168.0	169.0	169.0					12																	1036411		2203	4300	6503	SO:0001583	missense	5893				DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding	g.chr12:1036411C>T		CCDS8507.2	12p13-p12.2	2008-08-05	2001-11-28		ENSG00000002016	ENSG00000002016			9824	protein-coding gene	gene with protein product		600392	"""RAD52 (S. cerevisiae) homolog"""			7774919, 18313388	Standard	XM_005253721		Approved		uc001qis.1	P43351	OTTHUMG00000090361	ENST00000358495.3:c.367G>A	12.37:g.1036411C>T	ENSP00000351284:p.Asp123Asn					RAD52_ENST00000539046.1_Missense_Mutation_p.D46N|RAD52_ENST00000536177.1_Missense_Mutation_p.D123N|RAD52_ENST00000545564.1_Missense_Mutation_p.D123N|RAD52_ENST00000430095.2_Missense_Mutation_p.D123N	p.D123N	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)		6	505	-	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		123					Q13205|Q9Y5T7|Q9Y5T8|Q9Y5T9	Missense_Mutation	SNP	ENST00000358495.3	37	c.367G>A	CCDS8507.2	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639235	0.67244	.	.	ENSG00000002016	ENST00000358495;ENST00000430095;ENST00000539046;ENST00000536177;ENST00000545564;ENST00000542785	T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43	4.66	4.66	0.58398	.	0.044535	0.85682	D	0.000000	T	0.61110	0.2321	M	0.86268	2.805	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.995	D;D;D	0.87578	0.998;0.975;0.993	T	0.67440	-0.5670	10	0.62326	D	0.03	-19.2054	17.6879	0.88261	0.0:1.0:0.0:0.0	.	123;123;123	F5GX32;Q9Y5T7;P43351	.;.;RAD52_HUMAN	N	123;123;46;123;123;123	ENSP00000351284:D123N;ENSP00000387901:D123N;ENSP00000445245:D46N;ENSP00000440486:D123N;ENSP00000440268:D123N;ENSP00000441073:D123N	ENSP00000351284:D123N	D	-	1	0	RAD52	906672	1.000000	0.71417	0.986000	0.45419	0.077000	0.17291	7.015000	0.76387	2.590000	0.87494	0.561000	0.74099	GAT		0.537	RAD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206733.2	NM_134424		15	238	0	0	0	1	0	15	238				
YPEL4	219539	broad.mit.edu	37	11	57413814	57413814	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:57413814C>T	ENST00000524669.1	-	4	2972	c.250G>A	c.(250-252)Gac>Aac	p.D84N	YPEL4_ENST00000544993.1_Missense_Mutation_p.D84N|AP000662.4_ENST00000530595.1_RNA|YPEL4_ENST00000531442.1_5'Flank|YPEL4_ENST00000300022.3_Missense_Mutation_p.D84N|YPEL4_ENST00000534711.1_Missense_Mutation_p.D84N			Q96NS1	YPEL4_HUMAN	yippee-like 4 (Drosophila)	84						nucleus (GO:0005634)				lung(2)|skin(1)	3						CAGAAAATGTCAGCTACCGAG	0.567																																						ENST00000524669.1																			0				lung(2)|skin(1)	3						c.(250-252)Gac>Aac		yippee-like 4 (Drosophila)							87.0	82.0	84.0					11																	57413814		2201	4296	6497	SO:0001583	missense	219539					nucleolus		g.chr11:57413814C>T	AK054775	CCDS7963.1	11q12	2008-02-05				ENSG00000166793			18328	protein-coding gene	gene with protein product		609725					Standard	NM_145008		Approved	FLJ30213	uc001nkv.4	Q96NS1		ENST00000524669.1:c.250G>A	11.37:g.57413814C>T	ENSP00000432648:p.Asp84Asn					YPEL4_ENST00000544993.1_Missense_Mutation_p.D84N|YPEL4_ENST00000534711.1_Missense_Mutation_p.D84N|YPEL4_ENST00000300022.3_Missense_Mutation_p.D84N|AP000662.4_ENST00000530595.1_RNA	p.D84N			Q96NS1	YPEL4_HUMAN			4	2972	-			84					B3KW92|Q2M3U7|Q65Z98	Missense_Mutation	SNP	ENST00000524669.1	37	c.250G>A	CCDS7963.1	.	.	.	.	.	.	.	.	.	.	C	36	5.756865	0.96898	.	.	ENSG00000166793	ENST00000524669;ENST00000300022;ENST00000544993;ENST00000534711	.	.	.	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000004	D	0.86847	0.6031	M	0.93507	3.425	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90413	0.4411	9	0.87932	D	0	-7.618	18.3334	0.90279	0.0:1.0:0.0:0.0	.	84	Q96NS1	YPEL4_HUMAN	N	84	.	ENSP00000300022:D84N	D	-	1	0	YPEL4	57170390	1.000000	0.71417	0.966000	0.40874	0.986000	0.74619	7.578000	0.82498	2.414000	0.81942	0.555000	0.69702	GAC		0.567	YPEL4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393370.1	NM_145008		6	75	0	0	0	1	0	6	75				
IDE	3416	broad.mit.edu	37	10	94294450	94294450	+	Missense_Mutation	SNP	C	C	T	rs188992947		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:94294450C>T	ENST00000265986.6	-	3	432	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	126					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	TGGCTGTATTCATTTTCTTTA	0.368																																						ENST00000265986.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33						c.(376-378)Gaa>Aaa		insulin-degrading enzyme	Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						124.0	119.0	121.0					10																	94294450		2203	4300	6503	SO:0001583	missense	3416				beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding	g.chr10:94294450C>T	M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.376G>A	10.37:g.94294450C>T	ENSP00000265986:p.Glu126Lys						p.E126K	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN			3	432	-			126					B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	ENST00000265986.6	37	c.376G>A	CCDS7421.1	.	.	.	.	.	.	.	.	.	.	C	33	5.285233	0.95517	.	.	ENSG00000119912	ENST00000265986;ENST00000436178	T;T	0.34472	1.36;1.36	5.38	5.38	0.77491	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.66247	0.2770	M	0.87900	2.915	0.80722	D	1	D	0.63880	0.993	D	0.68483	0.958	T	0.70706	-0.4798	10	0.52906	T	0.07	-16.5594	19.1669	0.93561	0.0:1.0:0.0:0.0	.	126	P14735	IDE_HUMAN	K	126;112	ENSP00000265986:E126K;ENSP00000408850:E112K	ENSP00000265986:E126K	E	-	1	0	IDE	94284430	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.794000	0.85869	2.515000	0.84797	0.655000	0.94253	GAA		0.368	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969		5	38	0	0	0	1	0	5	38				
ZBTB11	27107	broad.mit.edu	37	3	101370146	101370146	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:101370146G>C	ENST00000312938.4	-	11	3606	c.3026C>G	c.(3025-3027)tCt>tGt	p.S1009C		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	1009					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGAAAGTGTAGATACCGATGG	0.418																																						ENST00000312938.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(3025-3027)tCt>tGt		zinc finger and BTB domain containing 11							152.0	140.0	144.0					3																	101370146		2203	4300	6503	SO:0001583	missense	27107				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:101370146G>C	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.3026C>G	3.37:g.101370146G>C	ENSP00000326200:p.Ser1009Cys						p.S1009C	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN			11	3606	-			1009					Q2NKP9	Missense_Mutation	SNP	ENST00000312938.4	37	c.3026C>G	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541268	0.85917	.	.	ENSG00000066422	ENST00000312938	T	0.12672	2.66	5.39	5.39	0.77823	.	0.064329	0.64402	D	0.000006	T	0.21801	0.0525	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.68192	0.956	T	0.01114	-1.1447	10	0.02654	T	1	-13.5054	19.5182	0.95174	0.0:0.0:1.0:0.0	.	1009	O95625	ZBT11_HUMAN	C	1009	ENSP00000326200:S1009C	ENSP00000326200:S1009C	S	-	2	0	ZBTB11	102852836	1.000000	0.71417	0.997000	0.53966	0.942000	0.58702	9.420000	0.97426	2.692000	0.91855	0.555000	0.69702	TCT		0.418	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415		7	85	0	0	0	1	0	7	85				
TMEM155	132332	broad.mit.edu	37	4	122682819	122682819	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:122682819G>C	ENST00000337677.5	-	5	644	c.86C>G	c.(85-87)tCt>tGt	p.S29C	TMEM155_ENST00000394396.1_Missense_Mutation_p.S29C|TMEM155_ENST00000394394.1_Missense_Mutation_p.S29C|AC079341.1_ENST00000424958.1_5'Flank	NM_152399.2	NP_689612.2	Q4W5P6	TM155_HUMAN	transmembrane protein 155	29						extracellular region (GO:0005576)				breast(1)|lung(5)	6						AATCGCACCAGATGGCATCAG	0.423																																						ENST00000337677.5																			0				breast(1)|lung(5)	6						c.(85-87)tCt>tGt		transmembrane protein 155							73.0	73.0	73.0					4																	122682819		2203	4300	6503	SO:0001583	missense	132332					extracellular region		g.chr4:122682819G>C	AK055396	CCDS3721.1	4q27	2008-02-05			ENSG00000164112	ENSG00000164112			26418	protein-coding gene	gene with protein product							Standard	NM_152399		Approved	FLJ30834	uc003idx.1	Q4W5P6	OTTHUMG00000133035	ENST00000337677.5:c.86C>G	4.37:g.122682819G>C	ENSP00000336987:p.Ser29Cys					TMEM155_ENST00000394396.1_Missense_Mutation_p.S29C|TMEM155_ENST00000394394.1_Missense_Mutation_p.S29C	p.S29C	NM_152399.2	NP_689612.2	Q4W5P6	TM155_HUMAN			5	644	-			29					D3DNW9|Q96NI2	Missense_Mutation	SNP	ENST00000337677.5	37	c.86C>G	CCDS3721.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.239619	0.58995	.	.	ENSG00000164112	ENST00000394396;ENST00000337677;ENST00000394394;ENST00000514885	T;T;T;T	0.57436	0.52;0.52;0.52;0.4	5.23	5.23	0.72850	.	0.177023	0.27673	N	0.018328	T	0.59582	0.2204	N	0.24115	0.695	0.27176	N	0.960783	D	0.89917	1.0	D	0.79108	0.992	T	0.56275	-0.8006	10	0.87932	D	0	-5.7072	15.0198	0.71621	0.0:0.0:1.0:0.0	.	29	Q4W5P6	TM155_HUMAN	C	29	ENSP00000377919:S29C;ENSP00000336987:S29C;ENSP00000377917:S29C;ENSP00000422869:S29C	ENSP00000336987:S29C	S	-	2	0	TMEM155	122902269	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.200000	0.58433	2.824000	0.97209	0.655000	0.94253	TCT		0.423	TMEM155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256637.2	NM_152399		9	32	0	0	0	1	0	9	32				
PTPRZ1	5803	broad.mit.edu	37	7	121652283	121652283	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:121652283G>C	ENST00000393386.2	+	12	3594	c.3183G>C	c.(3181-3183)gaG>gaC	p.E1061D	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1061					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.E1061E(3)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CTTTCAATGAGATGGTTTACC	0.348																																						ENST00000393386.2																			3	Substitution - coding silent(3)	p.E1061E(3)	prostate(3)	NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(3181-3183)gaG>gaC		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							108.0	111.0	110.0					7																	121652283		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121652283G>C	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.3183G>C	7.37:g.121652283G>C	ENSP00000377047:p.Glu1061Asp					PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	p.E1061D	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			12	3594	+			1061					A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.3183G>C	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.541432	0.27563	.	.	ENSG00000106278	ENST00000393386	T	0.46451	0.87	5.68	-0.532	0.11890	.	0.711573	0.13924	N	0.353387	T	0.19127	0.0459	N	0.05510	-0.035	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.08659	-1.0711	10	0.21540	T	0.41	.	8.3577	0.32340	0.1525:0.6864:0.1611:0.0	.	1061	P23471	PTPRZ_HUMAN	D	1061	ENSP00000377047:E1061D	ENSP00000377047:E1061D	E	+	3	2	PTPRZ1	121439519	0.546000	0.26457	0.837000	0.33122	0.986000	0.74619	0.641000	0.24720	0.004000	0.14682	0.650000	0.86243	GAG		0.348	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		10	83	0	0	0	1	0	10	83				
HCFC1	3054	broad.mit.edu	37	X	153217411	153217411	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:153217411G>A	ENST00000310441.7	-	20	6107	c.5141C>T	c.(5140-5142)aCt>aTt	p.T1714I	HCFC1_ENST00000354233.3_Missense_Mutation_p.T1645I|HCFC1_ENST00000369984.4_Missense_Mutation_p.T1759I	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1714					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGGGCCTCAGTGGGGAGGTG	0.652																																						ENST00000310441.7																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(5140-5142)aCt>aTt		host cell factor C1 (VP16-accessory protein)							14.0	17.0	16.0					X																	153217411		2081	4206	6287	SO:0001583	missense	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153217411G>A		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.5141C>T	X.37:g.153217411G>A	ENSP00000309555:p.Thr1714Ile					HCFC1_ENST00000369984.4_Missense_Mutation_p.T1759I|HCFC1_ENST00000354233.3_Missense_Mutation_p.T1645I	p.T1714I	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			20	6107	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1714					Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	c.5141C>T	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172965	0.78452	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.06528	3.29;3.29;3.3	5.21	4.34	0.51931	.	0.050180	0.85682	D	0.000000	T	0.14227	0.0344	L	0.29908	0.895	0.37508	D	0.917037	D	0.71674	0.998	D	0.76071	0.987	T	0.04320	-1.0960	10	0.72032	D	0.01	.	11.8011	0.52128	0.0892:0.0:0.9108:0.0	.	1714	P51610	HCFC1_HUMAN	I	1714;1759;1645	ENSP00000309555:T1714I;ENSP00000359001:T1759I;ENSP00000346174:T1645I	ENSP00000309555:T1714I	T	-	2	0	HCFC1	152870605	1.000000	0.71417	0.451000	0.26982	0.985000	0.73830	8.486000	0.90451	0.979000	0.38497	0.525000	0.51046	ACT		0.652	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		6	16	0	0	0	1	0	6	16				
FNIP1	96459	broad.mit.edu	37	5	131006169	131006169	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:131006169G>C	ENST00000510461.1	-	15	3190	c.3095C>G	c.(3094-3096)tCt>tGt	p.S1032C	FNIP1_ENST00000307968.7_Missense_Mutation_p.S1004C|FNIP1_ENST00000307954.8_Missense_Mutation_p.S987C|CTC-432M15.3_ENST00000514667.1_Intron	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	1032					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		CACAGCATGAGATAAATCTGA	0.418																																						ENST00000307968.7																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(3010-3012)tCt>tGt		folliculin interacting protein 1							125.0	114.0	118.0					5																	131006169		2203	4300	6503	SO:0001583	missense	96459							g.chr5:131006169G>C	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.3095C>G	5.37:g.131006169G>C	ENSP00000421985:p.Ser1032Cys					FNIP1_ENST00000307954.8_Missense_Mutation_p.S987C|FNIP1_ENST00000510461.1_Missense_Mutation_p.S1032C|FNIP1_ENST00000514667.1_Intron	p.S1004C	NM_001008738.2	NP_001008738.2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	14	3010	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)						D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	ENST00000510461.1	37	c.3011C>G	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.552281	0.86127	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461	T;T;T	0.12984	2.63;2.63;2.63	6.02	6.02	0.97574	.	.	.	.	.	T	0.31295	0.0792	L	0.51422	1.61	0.80722	D	1	D;D	0.61080	0.988;0.989	P;P	0.59221	0.854;0.769	T	0.00071	-1.2131	9	0.52906	T	0.07	-7.0692	20.5373	0.99239	0.0:0.0:1.0:0.0	.	1004;1032	Q8TF40-3;Q8TF40	.;FNIP1_HUMAN	C	1004;987;784;1032	ENSP00000309266:S1004C;ENSP00000310453:S987C;ENSP00000421985:S1032C	ENSP00000310453:S987C	S	-	2	0	FNIP1	131034068	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	5.119000	0.64679	2.857000	0.98124	0.650000	0.86243	TCT		0.418	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		17	89	0	0	0	1	0	17	89				
TIMELESS	8914	broad.mit.edu	37	12	56815774	56815774	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:56815774C>G	ENST00000553532.1	-	21	2701	c.2551G>C	c.(2551-2553)Gcc>Ccc	p.A851P	TIMELESS_ENST00000229201.4_Missense_Mutation_p.A850P|TIMELESS_ENST00000554616.1_Intron					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TTCAGGTGGGCCAAGATGGCT	0.537																																						ENST00000229201.4																			0				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						c.(2548-2550)Gcc>Ccc		timeless circadian clock							127.0	113.0	118.0					12																	56815774		2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56815774C>G	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.2551G>C	12.37:g.56815774C>G	ENSP00000450607:p.Ala851Pro					TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000553532.1_Missense_Mutation_p.A851P	p.A850P	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN			21	2702	-			851						Missense_Mutation	SNP	ENST00000553532.1	37	c.2548G>C	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657491	0.47467	.	.	ENSG00000111602	ENST00000229201;ENST00000553532	T;T	0.12879	2.64;2.64	5.19	5.19	0.71726	Timeless C-terminal (1);	0.172886	0.50627	D	0.000105	T	0.15219	0.0367	L	0.42245	1.32	0.80722	D	1	B	0.10296	0.003	B	0.16289	0.015	T	0.03413	-1.1039	10	0.33141	T	0.24	-0.1017	17.8454	0.88729	0.0:1.0:0.0:0.0	.	851	Q9UNS1	TIM_HUMAN	P	850;851	ENSP00000229201:A850P;ENSP00000450607:A851P	ENSP00000229201:A851P	A	-	1	0	TIMELESS	55102041	0.996000	0.38824	0.965000	0.40720	0.752000	0.42762	1.033000	0.30191	2.595000	0.87683	0.555000	0.69702	GCC		0.537	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		5	130	0	0	0	1	0	5	130				
DCC	1630	broad.mit.edu	37	18	50936947	50936947	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr18:50936947C>G	ENST00000442544.2	+	20	3677	c.3061C>G	c.(3061-3063)Cga>Gga	p.R1021G	DCC_ENST00000412726.1_Missense_Mutation_p.R849G|DCC_ENST00000581580.1_Missense_Mutation_p.R656G	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1021	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GTATTACTTTCGAATTCAAGC	0.378																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(3061-3063)Cga>Gga		deleted in colorectal carcinoma							137.0	132.0	134.0					18																	50936947		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50936947C>G	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3061C>G	18.37:g.50936947C>G	ENSP00000389140:p.Arg1021Gly					DCC_ENST00000581580.1_Missense_Mutation_p.R656G|DCC_ENST00000412726.1_Missense_Mutation_p.R849G	p.R1021G	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	20	3677	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	1021			Fibronectin type-III 6.			Missense_Mutation	SNP	ENST00000442544.2	37	c.3061C>G	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.917306	0.33815	.	.	ENSG00000187323	ENST00000442544;ENST00000412726	T;T	0.60797	0.16;0.16	5.87	4.9	0.64082	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.75642	0.3877	M	0.87900	2.915	0.42433	D	0.992683	P;P;D	0.58970	0.93;0.93;0.984	P;P;P	0.61132	0.884;0.884;0.884	T	0.79522	-0.1769	10	0.72032	D	0.01	-7.6313	13.6129	0.62091	0.2354:0.7646:0.0:0.0	.	849;849;1021	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	G	1021;849	ENSP00000389140:R1021G;ENSP00000397322:R849G	ENSP00000397322:R849G	R	+	1	2	DCC	49190945	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	2.196000	0.42686	2.941000	0.99782	0.655000	0.94253	CGA		0.378	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		8	58	0	0	0	1	0	8	58				
BTNL8	79908	broad.mit.edu	37	5	180374588	180374588	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:180374588C>T	ENST00000340184.4	+	4	956	c.750C>T	c.(748-750)ggC>ggT	p.G250G	BTNL8_ENST00000508408.1_Silent_p.G250G|BTNL8_ENST00000400707.3_Silent_p.G125G|BTNL8_ENST00000231229.4_Silent_p.G250G|BTNL8_ENST00000511704.1_Silent_p.G134G|BTNL8_ENST00000505126.1_Silent_p.G43G|BTNL8_ENST00000533815.2_Silent_p.G66G	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	250					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TATTTTTTGGCATTGTTGGAC	0.463																																						ENST00000231229.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28						c.(748-750)ggC>ggT		butyrophilin-like 8							235.0	243.0	240.0					5																	180374588		2203	4296	6499	SO:0001819	synonymous_variant	79908					integral to membrane		g.chr5:180374588C>T	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.750C>T	5.37:g.180374588C>T						BTNL8_ENST00000400707.3_Silent_p.G125G|BTNL8_ENST00000505126.1_Silent_p.G43G|BTNL8_ENST00000508408.1_Silent_p.G250G|BTNL8_ENST00000533815.2_Silent_p.G66G|BTNL8_ENST00000340184.4_Silent_p.G250G|BTNL8_ENST00000511704.1_Silent_p.G134G	p.G250G	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	984	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	250					A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Silent	SNP	ENST00000340184.4	37	c.750C>T	CCDS43413.1																																																																																				0.463	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		29	223	0	0	0	1	0	29	223				
VPS13D	55187	broad.mit.edu	37	1	12401942	12401942	+	Splice_Site	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:12401942G>C	ENST00000358136.3	+	41	8862	c.8732G>C	c.(8731-8733)aGa>aCa	p.R2911T	VPS13D_ENST00000356315.4_Splice_Site_p.R2886T	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACACCCACCAGGTAAGCAGTC	0.577																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.e41+1		vacuolar protein sorting 13 homolog D (S. cerevisiae)							77.0	76.0	76.0					1																	12401942		2203	4300	6503	SO:0001630	splice_region_variant	55187				protein localization			g.chr1:12401942G>C	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.8732+1G>C	1.37:g.12401942G>C						VPS13D_ENST00000356315.4_Splice_Site_p.R2886_splice	p.R2911_splice	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	41	8862	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2910						Splice_Site	SNP	ENST00000358136.3	37	c.8732_splice	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.65|18.65	3.669348|3.669348	0.67814|0.67814	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.50277	.|0.75;0.75	5.74|5.74	4.81|4.81	0.61882|0.61882	.|.	.|0.045467	.|0.85682	.|N	.|0.000000	T|T	0.37999|0.37999	0.1024|0.1024	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	.|P;B	.|0.38280	.|0.625;0.078	.|B;B	.|0.36418	.|0.224;0.018	T|T	0.11348|0.11348	-1.0591|-1.0591	5|10	.|0.14656	.|T	.|0.56	.|.	16.6872|16.6872	0.85311|0.85311	0.0:0.1298:0.8702:0.0|0.0:0.1298:0.8702:0.0	.|.	.|2886;2910	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	Q|T	1733|2886;2911	.|ENSP00000348666:R2886T;ENSP00000350854:R2911T	.|ENSP00000348666:R2886T	E|R	+|+	1|2	0|0	VPS13D|VPS13D	12324529|12324529	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	9.397000|9.397000	0.97276|0.97276	1.398000|1.398000	0.46701|0.46701	0.591000|0.591000	0.81541|0.81541	GAG|AGA		0.577	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378	Missense_Mutation	11	88	0	0	0	1	0	11	88				
RRP36	88745	broad.mit.edu	37	6	42996873	42996873	+	Silent	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:42996873G>C	ENST00000244496.5	+	7	697	c.687G>C	c.(685-687)ctG>ctC	p.L229L		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	229					ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TCAAGGAGCTGAAACGCAGCA	0.468																																						ENST00000244496.5																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						c.(685-687)ctG>ctC		ribosomal RNA processing 36 homolog (S. cerevisiae)							157.0	160.0	159.0					6																	42996873		2203	4300	6503	SO:0001819	synonymous_variant	88745				ribosomal small subunit biogenesis|rRNA processing	nucleolus		g.chr6:42996873G>C	BC011933	CCDS34453.1	6p21.1	2010-07-06	2010-07-06	2010-07-06	ENSG00000124541	ENSG00000124541			21374	protein-coding gene	gene with protein product		613475	"""chromosome 6 open reading frame 153"""	C6orf153		20038530	Standard	NM_033112		Approved	dJ20C7.4	uc003otp.1	Q96EU6	OTTHUMG00000014715	ENST00000244496.5:c.687G>C	6.37:g.42996873G>C							p.L229L	NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN			7	697	+			229					Q9BRF6|Q9P0C8	Silent	SNP	ENST00000244496.5	37	c.687G>C	CCDS34453.1																																																																																				0.468	RRP36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040572.1	NM_033112		23	256	0	0	0	1	0	23	256				
SULF2	55959	broad.mit.edu	37	20	46293965	46293965	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:46293965C>T	ENST00000359930.4	-	14	2826	c.1975G>A	c.(1975-1977)Gaa>Aaa	p.E659K	SULF2_ENST00000467815.1_Missense_Mutation_p.E659K|SULF2_ENST00000484875.1_Missense_Mutation_p.E659K|SULF2_ENST00000361612.4_Missense_Mutation_p.E659K	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	659					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CAGTCACATTCTTCTGGCCGC	0.507																																						ENST00000359930.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1975-1977)Gaa>Aaa		sulfatase 2							292.0	272.0	278.0					20																	46293965		2203	4300	6503	SO:0001583	missense	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46293965C>T	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.1975G>A	20.37:g.46293965C>T	ENSP00000353007:p.Glu659Lys					SULF2_ENST00000467815.1_Missense_Mutation_p.E659K|SULF2_ENST00000484875.1_Missense_Mutation_p.E659K|SULF2_ENST00000361612.4_Missense_Mutation_p.E659K	p.E659K	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN			14	2826	-			659					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	c.1975G>A	CCDS13408.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677445	0.88445	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000371978;ENST00000467815	D;D;D;D	0.99070	-5.39;-5.39;-5.39;-5.39	5.15	5.15	0.70609	Extracellular sulfatase, C-terminal (1);Alkaline-phosphatase-like, core domain (1);	0.046888	0.85682	D	0.000000	D	0.98682	0.9558	M	0.78456	2.415	0.49213	D	0.99976	P;P	0.51147	0.852;0.942	B;P	0.48334	0.392;0.574	D	0.99517	1.0957	10	0.46703	T	0.11	-15.6299	18.618	0.91310	0.0:1.0:0.0:0.0	.	659;659	Q8IWU5-2;Q8IWU5	.;SULF2_HUMAN	K	659;659;659;78;659	ENSP00000353007:E659K;ENSP00000418290:E659K;ENSP00000354662:E659K;ENSP00000418442:E659K	ENSP00000353007:E659K	E	-	1	0	SULF2	45727372	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.050000	0.71063	2.395000	0.81488	0.462000	0.41574	GAA		0.507	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		47	154	0	0	0	1	0	47	154				
CHI3L1	1116	broad.mit.edu	37	1	203148584	203148584	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:203148584C>T	ENST00000255409.3	-	10	1266	c.1141G>A	c.(1141-1143)Gct>Act	p.A381T		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	381					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to tumor necrosis factor (GO:0071356)|chitin catabolic process (GO:0006032)|inflammatory response (GO:0006954)|interleukin-8 secretion (GO:0072606)|lung development (GO:0030324)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase B signaling (GO:0051897)|response to interleukin-1 (GO:0070555)|response to interleukin-6 (GO:0070741)|response to mechanical stimulus (GO:0009612)|response to tumor necrosis factor (GO:0034612)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|extracellular matrix structural constituent (GO:0005201)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						TACGTTGCAGCGAGTGCATCC	0.647																																						ENST00000255409.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						c.(1141-1143)Gct>Act		chitinase 3-like 1 (cartilage glycoprotein-39)							68.0	71.0	70.0					1																	203148584		2203	4300	6503	SO:0001583	missense	1116				chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding	g.chr1:203148584C>T	BC008568	CCDS1435.1	1q32.1	2008-02-05			ENSG00000133048	ENSG00000133048			1932	protein-coding gene	gene with protein product		601525				8245017, 9244440	Standard	NM_001276		Approved	GP39, YKL40	uc001gzi.2	P36222	OTTHUMG00000042122	ENST00000255409.3:c.1141G>A	1.37:g.203148584C>T	ENSP00000255409:p.Ala381Thr						p.A381T	NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN			10	1266	-			381					B2R7B0|P30923|Q8IVA4|Q96HI7	Missense_Mutation	SNP	ENST00000255409.3	37	c.1141G>A	CCDS1435.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.24|12.24	1.878698|1.878698	0.33162|0.33162	.|.	.|.	ENSG00000133048|ENSG00000133048	ENST00000255409|ENST00000404436	T|.	0.07327|.	3.2|.	4.54|4.54	0.778|0.778	0.18543|0.18543	Glycoside hydrolase, subgroup, catalytic domain (1);|.	1.233230|.	0.05832|.	N|.	0.617722|.	T|T	0.22551|0.22551	0.0544|0.0544	N|N	0.25789|0.25789	0.76|0.76	0.09310|0.09310	N|N	1|1	B|.	0.06786|.	0.001|.	B|.	0.01281|.	0.0|.	T|T	0.23833|0.23833	-1.0177|-1.0177	10|5	0.38643|.	T|.	0.18|.	-0.0738|-0.0738	3.7851|3.7851	0.08697|0.08697	0.1464:0.4754:0.2791:0.0991|0.1464:0.4754:0.2791:0.0991	.|.	381|.	P36222|.	CH3L1_HUMAN|.	T|H	381|149	ENSP00000255409:A381T|.	ENSP00000255409:A381T|.	A|R	-|-	1|2	0|0	CHI3L1|CHI3L1	201415207|201415207	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.099000|0.099000	0.18886|0.18886	-0.926000|-0.926000	0.03988|0.03988	0.349000|0.349000	0.23975|0.23975	0.491000|0.491000	0.48974|0.48974	GCT|CGC		0.647	CHI3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100265.1	NM_001276		10	123	0	0	0	1	0	10	123				
NAV3	89795	broad.mit.edu	37	12	78400500	78400500	+	Silent	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:78400500G>T	ENST00000397909.2	+	8	1355	c.1182G>T	c.(1180-1182)cgG>cgT	p.R394R	NAV3_ENST00000228327.6_Silent_p.R394R|NAV3_ENST00000536525.2_Silent_p.R394R|NAV3_ENST00000266692.7_Silent_p.R394R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	394						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCAATGCCCGGACTGCTTTAC	0.498										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(1180-1182)cgG>cgT		neuron navigator 3							83.0	86.0	85.0					12																	78400500		1981	4151	6132	SO:0001819	synonymous_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400500G>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1182G>T	12.37:g.78400500G>T		HNSCC(70;0.22)				NAV3_ENST00000228327.6_Silent_p.R394R|NAV3_ENST00000266692.7_Silent_p.R394R|NAV3_ENST00000536525.2_Silent_p.R394R	p.R394R			Q8IVL0	NAV3_HUMAN			8	1355	+			394					Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37	c.1182G>T		.	.	.	.	.	.	.	.	.	.	G	6.934	0.542076	0.13250	.	.	ENSG00000067798	ENST00000550503	.	.	.	5.74	3.9	0.45041	.	.	.	.	.	T	0.62208	0.2409	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60722	-0.7207	4	.	.	.	-13.8773	11.1388	0.48390	0.1994:0.0:0.8006:0.0	.	.	.	.	Y	218	.	.	D	+	1	0	NAV3	76924631	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	1.350000	0.34010	1.436000	0.47453	0.655000	0.94253	GAC		0.498	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		10	110	1	0	7.48243e-07	1	7.95808e-07	10	110				
TNXB	7148	broad.mit.edu	37	6	32063827	32063827	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:32063827C>A	ENST00000479795.1	-	3	1943	c.1803G>T	c.(1801-1803)caG>caT	p.Q601H	TNXB_ENST00000375247.2_Missense_Mutation_p.Q601H|TNXB_ENST00000375244.3_Missense_Mutation_p.Q601H			P22105	TENX_HUMAN	tenascin XB	601	EGF-like 15. {ECO:0000255|PROSITE- ProRule:PRU00076}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACACACCGTCCTGGCACACGC	0.647																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(1801-1803)caG>caT		tenascin XB							32.0	33.0	33.0					6																	32063827		2194	4293	6487	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32063827C>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000479795.1:c.1803G>T	6.37:g.32063827C>A	ENSP00000418248:p.Gln601His					TNXB_ENST00000479795.1_Missense_Mutation_p.Q601H|TNXB_ENST00000375247.2_Missense_Mutation_p.Q601H	p.Q601H			P22105	TENX_HUMAN			3	2004	-			601			EGF-like 15.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000479795.1	37	c.1803G>T		.	.	.	.	.	.	.	.	.	.	c	6.938	0.542774	0.13250	.	.	ENSG00000168477	ENST00000375244;ENST00000375247;ENST00000479795	T;T;T	0.03272	3.99;3.99;3.99	4.26	0.282	0.15692	.	0.175073	0.27595	N	0.018672	T	0.00666	0.0022	N	0.20328	0.56	0.25290	N	0.989361	B	0.16802	0.019	B	0.12156	0.007	T	0.48151	-0.9060	10	0.49607	T	0.09	.	0.6559	0.00834	0.1718:0.3538:0.1672:0.3071	.	601	P22105-3	.	H	601	ENSP00000364393:Q601H;ENSP00000364396:Q601H;ENSP00000418248:Q601H	ENSP00000364393:Q601H	Q	-	3	2	TNXB	32171805	0.000000	0.05858	0.984000	0.44739	0.844000	0.47949	-0.897000	0.04110	0.460000	0.27045	0.462000	0.41574	CAG		0.647	TNXB-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000357059.1	NM_019105		8	55	1	0	5.18039e-06	1	5.43005e-06	8	55				
DBNDD2	55861	broad.mit.edu	37	20	44037201	44037201	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:44037201G>C	ENST00000372720.3	+	2	619	c.388G>C	c.(388-390)Gag>Cag	p.E130Q	DBNDD2_ENST00000372723.3_Missense_Mutation_p.E32Q|SYS1-DBNDD2_ENST00000452133.1_3'UTR|DBNDD2_ENST00000372712.2_Missense_Mutation_p.E32Q|TP53TG5_ENST00000494455.1_5'Flank|DBNDD2_ENST00000372722.3_Missense_Mutation_p.E32Q|DBNDD2_ENST00000372717.1_Missense_Mutation_p.E32Q|DBNDD2_ENST00000372710.3_Missense_Mutation_p.E134Q|DBNDD2_ENST00000360981.4_Missense_Mutation_p.E32Q|SYS1-DBNDD2_ENST00000475242.1_3'UTR|DBNDD2_ENST00000357275.2_Missense_Mutation_p.E32Q	NM_018478.3	NP_060948.3	Q9BQY9	DBND2_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 2	130					negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)				breast(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				GCCAGAGACAGAGTTTGTCTT	0.567																																						ENST00000372712.2																			0				breast(1)|lung(2)	3						c.(94-96)Gag>Cag		dysbindin (dystrobrevin binding protein 1) domain containing 2							80.0	82.0	82.0					20																	44037201		1942	4130	6072	SO:0001583	missense	55861				negative regulation of protein kinase activity	cytoplasm	protein binding	g.chr20:44037201G>C	AF220191	CCDS42880.1, CCDS42881.1, CCDS56193.1, CCDS56194.1	20q13.12	2007-07-23	2006-04-04	2006-04-04	ENSG00000244274	ENSG00000244274			15881	protein-coding gene	gene with protein product		611453	"""chromosome 20 open reading frame 35"""	C20orf35			Standard	NM_001048225		Approved	HSMNP1	uc002xof.3	Q9BQY9	OTTHUMG00000032576	ENST00000372720.3:c.388G>C	20.37:g.44037201G>C	ENSP00000361805:p.Glu130Gln					DBNDD2_ENST00000372710.3_Missense_Mutation_p.E134Q|DBNDD2_ENST00000372717.1_Missense_Mutation_p.E32Q|SYS1-DBNDD2_ENST00000475242.1_3'UTR|DBNDD2_ENST00000360981.4_Missense_Mutation_p.E32Q|DBNDD2_ENST00000357275.2_Missense_Mutation_p.E32Q|DBNDD2_ENST00000372722.3_Missense_Mutation_p.E32Q|SYS1-DBNDD2_ENST00000452133.1_3'UTR|DBNDD2_ENST00000372723.3_Missense_Mutation_p.E32Q|DBNDD2_ENST00000372720.3_Missense_Mutation_p.E130Q	p.E32Q			Q9BQY9	DBND2_HUMAN			2	675	+		Myeloproliferative disorder(115;0.0122)	130					Q331S6|Q5QPV4|Q5QPV6|Q9BQZ0|Q9BVL1|Q9H1F6|Q9NWZ0|Q9NY07|Q9NZ31	Missense_Mutation	SNP	ENST00000372720.3	37	c.94G>C	CCDS56193.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.0|28.0	4.879107|4.879107	0.91740|0.91740	.|.	.|.	ENSG00000244274|ENSG00000244274	ENST00000372723;ENST00000372722;ENST00000357275;ENST00000372720;ENST00000372717;ENST00000360981;ENST00000372712;ENST00000372710|ENST00000443296	T;T;T;T;T;T;T;T|.	0.41065|.	1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01|.	5.61|5.61	4.66|4.66	0.58398|0.58398	.|.	0.124966|.	0.53938|.	D|.	0.000042|.	T|T	0.69196|0.69196	0.3084|0.3084	M|M	0.77313|0.77313	2.365|2.365	0.35749|0.35749	D|D	0.819307|0.819307	P;D|.	0.53619|.	0.905;0.961|.	P;P|.	0.54499|.	0.754;0.726|.	T|T	0.77011|0.77011	-0.2746|-0.2746	10|5	0.87932|.	D|.	0|.	.|.	12.012|12.012	0.53293|0.53293	0.0802:0.0:0.9198:0.0|0.0802:0.0:0.9198:0.0	.|.	32;130|.	Q5QPV4;Q9BQY9|.	.;DBND2_HUMAN|.	Q|H	32;32;32;130;32;32;32;134|91	ENSP00000361808:E32Q;ENSP00000361807:E32Q;ENSP00000349822:E32Q;ENSP00000361805:E130Q;ENSP00000361802:E32Q;ENSP00000354250:E32Q;ENSP00000361797:E32Q;ENSP00000361795:E134Q|.	ENSP00000349822:E32Q|.	E|Q	+|+	1|3	0|2	DBNDD2|DBNDD2	43470615|43470615	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.995000|0.995000	0.86356|0.86356	7.834000|7.834000	0.86773|0.86773	1.368000|1.368000	0.46115|0.46115	0.655000|0.655000	0.94253|0.94253	GAG|CAG		0.567	DBNDD2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079438.1	NM_018478		9	87	0	0	0	1	0	9	87				
PNLIPRP1	5407	broad.mit.edu	37	10	118354353	118354353	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:118354353G>A	ENST00000528052.1	+	5	513	c.442G>A	c.(442-444)Gcc>Acc	p.A148T	PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.A148T|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.A148T			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	148					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)	p.A148S(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		CGCCCAGGTGGCCCAGATGCT	0.602																																						ENST00000528052.1																			2	Substitution - Missense(2)	p.A148S(2)	lung(2)	breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38						c.(442-444)Gcc>Acc		pancreatic lipase-related protein 1							80.0	67.0	71.0					10																	118354353		2203	4300	6503	SO:0001583	missense	5407				lipid metabolic process		calcium ion binding|triglyceride lipase activity	g.chr10:118354353G>A	BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.442G>A	10.37:g.118354353G>A	ENSP00000433933:p.Ala148Thr					PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.A148T|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.A148T	p.A148T			P54315	LIPR1_HUMAN		all cancers(201;0.0161)	5	513	+			148					Q68D83|Q68DR6|Q8TAU2|Q9BS82	Missense_Mutation	SNP	ENST00000528052.1	37	c.442G>A	CCDS7595.1	.	.	.	.	.	.	.	.	.	.	G	32	5.138029	0.94517	.	.	ENSG00000187021	ENST00000531984;ENST00000358834;ENST00000528052;ENST00000534537	D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98	4.94	4.94	0.65067	Lipase, N-terminal (1);	0.000000	0.64402	D	0.000001	D	0.96889	0.8984	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97782	1.0233	10	0.87932	D	0	-16.3199	17.2878	0.87146	0.0:0.0:1.0:0.0	.	148	P54315	LIPR1_HUMAN	T	148	ENSP00000436123:A148T;ENSP00000351695:A148T;ENSP00000433933:A148T;ENSP00000434159:A148T	ENSP00000351695:A148T	A	+	1	0	PNLIPRP1	118344343	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.475000	0.81041	2.460000	0.83146	0.655000	0.94253	GCC		0.602	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1	NM_006229		8	26	0	0	0	1	0	8	26				
HSPA4L	22824	broad.mit.edu	37	4	128741618	128741618	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:128741618G>C	ENST00000296464.4	+	14	2121	c.1710G>C	c.(1708-1710)caG>caC	p.Q570H	HSPA4L_ENST00000508776.1_Missense_Mutation_p.Q570H|HSPA4L_ENST00000505726.1_Missense_Mutation_p.Q544H|HSPA4L_ENST00000515262.1_3'UTR|HSPA4L_ENST00000439123.2_Missense_Mutation_p.Q601H	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	570					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GATTAAATCAGACACTTAAAA	0.338																																						ENST00000296464.3																			0				central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						c.(1708-1710)caG>caC		heat shock 70kDa protein 4-like							62.0	59.0	60.0					4																	128741618		2203	4300	6503	SO:0001583	missense	22824				protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding	g.chr4:128741618G>C	AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"""Heat shock proteins / HSP70"""	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.1710G>C	4.37:g.128741618G>C	ENSP00000296464:p.Gln570His					HSPA4L_ENST00000439123.2_Missense_Mutation_p.Q601H|HSPA4L_ENST00000508776.1_Missense_Mutation_p.Q570H|HSPA4L_ENST00000515262.1_3'UTR|HSPA4L_ENST00000505726.1_Missense_Mutation_p.Q544H	p.Q570H	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN			14	2121	+			570					A2ICT2|Q4W5M5|Q8IWA2	Missense_Mutation	SNP	ENST00000296464.4	37	c.1710G>C	CCDS3734.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111611	0.37242	.	.	ENSG00000164070	ENST00000508776;ENST00000439123;ENST00000296464;ENST00000508549;ENST00000505726	T;T;T;T;T	0.01059	5.39;5.39;5.39;5.39;5.39	4.45	1.18	0.20946	.	0.297106	0.33346	N	0.005011	T	0.01523	0.0049	N	0.14661	0.345	0.29394	N	0.862394	P;P;P	0.52577	0.913;0.954;0.954	P;P;P	0.56343	0.796;0.579;0.579	T	0.49194	-0.8965	10	0.51188	T	0.08	.	7.1673	0.25698	0.4361:0.0:0.5639:0.0	.	544;570;570	E9PDE8;A2ICT2;O95757	.;.;HS74L_HUMAN	H	570;601;570;529;544	ENSP00000422482:Q570H;ENSP00000393926:Q601H;ENSP00000296464:Q570H;ENSP00000427305:Q529H;ENSP00000425645:Q544H	ENSP00000296464:Q570H	Q	+	3	2	HSPA4L	128961068	0.742000	0.28228	0.776000	0.31678	0.744000	0.42396	0.939000	0.28978	0.008000	0.14787	0.650000	0.86243	CAG		0.338	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3	NM_014278		6	21	0	0	0	1	0	6	21				
VNN2	8875	broad.mit.edu	37	6	133072608	133072608	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:133072608C>T	ENST00000326499.6	-	5	1000	c.876G>A	c.(874-876)atG>atA	p.M292I	RP1-55C23.7_ENST00000430895.1_RNA|VNN2_ENST00000525270.1_Missense_Mutation_p.M239I|VNN2_ENST00000526192.1_5'Flank|VNN2_ENST00000525289.1_Intron	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	292	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		ACTCTGTCTTCATGTCATAAT	0.428																																						ENST00000326499.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(874-876)atG>atA		vanin 2							66.0	67.0	66.0					6																	133072608		2201	4264	6465	SO:0001583	missense	8875				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity	g.chr6:133072608C>T	AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"""Vanins"""	12706	protein-coding gene	gene with protein product	"""pantetheinase"""	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.876G>A	6.37:g.133072608C>T	ENSP00000322276:p.Met292Ile					VNN2_ENST00000525270.1_Missense_Mutation_p.M239I|VNN2_ENST00000525289.1_Intron	p.M292I	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)	5	1000	-			292			CN hydrolase.		A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Missense_Mutation	SNP	ENST00000326499.6	37	c.876G>A	CCDS5161.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.480582	0.26598	.	.	ENSG00000112303	ENST00000326499;ENST00000525270	T;T	0.57436	0.4;0.4	5.56	4.69	0.59074	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (3);	0.138702	0.49305	D	0.000149	T	0.33235	0.0856	M	0.74467	2.265	0.80722	D	1	B	0.25351	0.124	B	0.28991	0.097	T	0.25293	-1.0136	10	0.21540	T	0.41	-8.8067	7.499	0.27507	0.1243:0.6869:0.1204:0.0684	.	292	O95498	VNN2_HUMAN	I	292;239	ENSP00000322276:M292I;ENSP00000436822:M239I	ENSP00000322276:M292I	M	-	3	0	VNN2	133114301	0.000000	0.05858	0.780000	0.31762	0.228000	0.25075	-0.639000	0.05446	1.474000	0.48178	0.609000	0.83330	ATG		0.428	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042264.2			14	69	0	0	0	1	0	14	69				
PEX12	5193	broad.mit.edu	37	17	33904942	33904942	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:33904942C>T	ENST00000225873.4	-	1	706	c.99G>A	c.(97-99)gtG>gtA	p.V33V		NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	33					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GAGCGGGTCTCACTGCTGTCA	0.463																																						ENST00000225873.4																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18						c.(97-99)gtG>gtA		peroxisomal biogenesis factor 12							131.0	123.0	126.0					17																	33904942		2203	4300	6503	SO:0001819	synonymous_variant	5193				protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding	g.chr17:33904942C>T	U91521	CCDS11296.1	17q21.1	2011-02-10			ENSG00000108733	ENSG00000108733			8854	protein-coding gene	gene with protein product		601758				9090384	Standard	NM_000286		Approved		uc002hjp.3	O00623	OTTHUMG00000132951	ENST00000225873.4:c.99G>A	17.37:g.33904942C>T							p.V33V	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	1	706	-			33					B2R6M2	Silent	SNP	ENST00000225873.4	37	c.99G>A	CCDS11296.1																																																																																				0.463	PEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256489.2	NM_000286		11	83	0	0	0	1	0	11	83				
UBC	7316	broad.mit.edu	37	12	125396503	125396503	+	Silent	SNP	G	G	A	rs6657	byFrequency	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:125396503G>A	ENST00000538617.1	-	4	991	c.675C>T	c.(673-675)ctC>ctT	p.L225L	UBC_ENST00000339647.5_Silent_p.L605L|UBC_ENST00000536769.1_Silent_p.L605L|UBC_ENST00000546120.1_Silent_p.L529L|UBC_ENST00000536661.1_5'Flank			P0CG48	UBC_HUMAN	ubiquitin C	605	Ubiquitin-like 3. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|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)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|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 transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)	p.L605L(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TCCCACCTCTGAGACGGAGCA	0.537																																						ENST00000536769.1																			1	Substitution - coding silent(1)	p.L605L(1)	prostate(1)	breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1813-1815)ctC>ctT		ubiquitin C							107.0	67.0	81.0					12																	125396503		2200	4279	6479	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125396503G>A		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000538617.1:c.675C>T	12.37:g.125396503G>A						UBC_ENST00000546120.1_Silent_p.L529L|UBC_ENST00000538617.1_Silent_p.L225L|UBC_ENST00000339647.5_Silent_p.L605L	p.L605L			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	3391	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		605			Ubiquitin-like 8.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000538617.1	37	c.1815C>T																																																																																					0.537	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000400179.1	NM_021009		5	169	0	0	0	1	0	5	169				
QRFPR	84109	broad.mit.edu	37	4	122250697	122250697	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:122250697G>C	ENST00000394427.2	-	6	1479	c.1068C>G	c.(1066-1068)ttC>ttG	p.F356L	Y_RNA_ENST00000384419.1_RNA|QRFPR_ENST00000334383.5_3'UTR	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	356					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						GTGCTGGAGAGAAGGTTTTAT	0.373																																						ENST00000394427.2																			0				endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						c.(1066-1068)ttC>ttG		pyroglutamylated RFamide peptide receptor							127.0	125.0	126.0					4																	122250697		2203	4300	6503	SO:0001583	missense	84109					plasma membrane	neuropeptide Y receptor activity	g.chr4:122250697G>C	AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"""GPCR / Class A : RF amide peptide receptors"""	15565	protein-coding gene	gene with protein product		606925	"""G protein-coupled receptor 103"""	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.1068C>G	4.37:g.122250697G>C	ENSP00000377948:p.Phe356Leu					QRFPR_ENST00000334383.5_3'UTR	p.F356L	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN			6	1479	-			356						Missense_Mutation	SNP	ENST00000394427.2	37	c.1068C>G	CCDS3719.1	.	.	.	.	.	.	.	.	.	.	G	8.886	0.952819	0.18431	.	.	ENSG00000186867	ENST00000394427	T	0.36520	1.25	5.32	-10.6	0.00265	.	1.305430	0.04920	N	0.454769	T	0.11665	0.0284	N	0.02539	-0.55	0.23739	N	0.996971	B	0.02656	0.0	B	0.01281	0.0	T	0.28933	-1.0028	10	0.08599	T	0.76	.	11.9676	0.53044	0.0:0.3082:0.5367:0.155	.	356	Q96P65	QRFPR_HUMAN	L	356	ENSP00000377948:F356L	ENSP00000377948:F356L	F	-	3	2	QRFPR	122470147	0.000000	0.05858	0.018000	0.16275	0.379000	0.30106	-0.899000	0.04101	-2.070000	0.00881	-0.479000	0.04858	TTC		0.373	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256641.2	NM_198179		8	69	0	0	0	1	0	8	69				
WDR35	57539	broad.mit.edu	37	2	20114033	20114033	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:20114033G>A	ENST00000345530.3	-	27	3275	c.3160C>T	c.(3160-3162)Cac>Tac	p.H1054Y	WDR35_ENST00000281405.4_Missense_Mutation_p.H1043Y|WDR35_ENST00000416055.2_Intron	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	1054					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTTCAGGTGAAGAGCTAAG	0.398																																						ENST00000345530.3																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(3160-3162)Cac>Tac		WD repeat domain 35							62.0	65.0	64.0					2																	20114033		2202	4300	6502	SO:0001583	missense	57539							g.chr2:20114033G>A	AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.3160C>T	2.37:g.20114033G>A	ENSP00000314444:p.His1054Tyr					WDR35_ENST00000416055.2_Intron|WDR35_ENST00000281405.4_Missense_Mutation_p.H1043Y	p.H1054Y	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN			27	3275	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1054					B3KVI5|Q4ZG01|Q8NE11	Missense_Mutation	SNP	ENST00000345530.3	37	c.3160C>T	CCDS33152.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335198	0.81801	.	.	ENSG00000118965	ENST00000345530;ENST00000281405	T;T	0.64260	-0.09;-0.09	5.53	5.53	0.82687	.	0.044001	0.85682	D	0.000000	T	0.77745	0.4176	M	0.79805	2.47	0.80722	D	1	D;P	0.89917	1.0;0.885	D;P	0.91635	0.999;0.603	T	0.73000	-0.4120	10	0.05620	T	0.96	-5.7499	18.8135	0.92068	0.0:0.0:1.0:0.0	.	1043;1054	Q9P2L0-2;Q9P2L0	.;WDR35_HUMAN	Y	1054;1043	ENSP00000314444:H1054Y;ENSP00000281405:H1043Y	ENSP00000281405:H1043Y	H	-	1	0	WDR35	19977514	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	9.420000	0.97426	2.763000	0.94921	0.655000	0.94253	CAC		0.398	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		8	61	0	0	0	1	0	8	61				
NAGLU	4669	broad.mit.edu	37	17	40695097	40695097	+	Missense_Mutation	SNP	C	C	T	rs368687817		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:40695097C>T	ENST00000225927.2	+	6	1174	c.1073C>T	c.(1072-1074)cCg>cTg	p.P358L	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	358			P -> L (in MPS3B). {ECO:0000269|PubMed:9443878}.		carbohydrate metabolic process (GO:0005975)|cerebellar Purkinje cell layer development (GO:0021680)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inner ear receptor cell development (GO:0060119)|locomotor rhythm (GO:0045475)|lysosome organization (GO:0007040)|middle ear morphogenesis (GO:0042474)|nervous system development (GO:0007399)|retinal rod cell development (GO:0046548)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-N-acetylglucosaminidase activity (GO:0004561)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CAGCACCAGCCGCAGTTCTGG	0.617													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16768	0.0		0.0	False		,,,				2504	0.0					ENST00000225927.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12	GRCh37	CM981362	NAGLU	M		c.(1072-1074)cCg>cTg		N-acetylglucosaminidase, alpha	N-Acetyl-D-glucosamine(DB00141)	C	LEU/PRO	0,4396		0,0,2198	55.0	65.0	62.0		1073	3.7	0.8	17		62	1,8561		0,1,4280	no	missense	NAGLU	NM_000263.3	98	0,1,6478	TT,TC,CC		0.0117,0.0,0.0077	possibly-damaging	358/744	40695097	1,12957	2198	4281	6479	SO:0001583	missense	4669					lysosome	alpha-N-acetylglucosaminidase activity	g.chr17:40695097C>T		CCDS11427.1	17q21.2	2010-07-27	2010-07-27		ENSG00000108784	ENSG00000108784	3.2.1.50		7632	protein-coding gene	gene with protein product	"""Sanfilippo disease IIIB"""	609701					Standard	XM_006721920		Approved	NAG	uc002hzv.3	P54802		ENST00000225927.2:c.1073C>T	17.37:g.40695097C>T	ENSP00000225927:p.Pro358Leu					RP11-400F19.8_ENST00000585572.1_RNA	p.P358L	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	6	1174	+		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)	358		P -> L (in MPS3B).				Missense_Mutation	SNP	ENST00000225927.2	37	c.1073C>T	CCDS11427.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.151829	0.78001	0.0	1.17E-4	ENSG00000108784	ENST00000225927;ENST00000377405	D	0.97731	-4.51	4.7	3.72	0.42706	Alpha-N-acetylglucosaminidase, tim-barrel domain (1);	0.191050	0.45867	D	0.000339	D	0.98273	0.9428	M	0.84326	2.69	0.80722	D	1	D	0.69078	0.997	P	0.60415	0.874	D	0.98360	1.0548	10	0.54805	T	0.06	-20.8594	13.6681	0.62407	0.0:0.8434:0.1566:0.0	.	358	P54802	ANAG_HUMAN	L	358;34	ENSP00000225927:P358L	ENSP00000225927:P358L	P	+	2	0	NAGLU	37948623	0.997000	0.39634	0.839000	0.33178	0.867000	0.49689	3.670000	0.54569	1.189000	0.43028	0.491000	0.48974	CCG		0.617	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450385.1	NM_000263		19	165	0	0	0	1	0	19	165				
VAT1L	57687	broad.mit.edu	37	16	77859228	77859228	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr16:77859228C>T	ENST00000302536.2	+	3	602	c.449C>T	c.(448-450)cCg>cTg	p.P150L		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	150							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						TACAAGATCCCGGATGACATG	0.522																																						ENST00000302536.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(448-450)cCg>cTg		vesicle amine transport 1-like							144.0	120.0	128.0					16																	77859228		2198	4300	6498	SO:0001583	missense	57687						oxidoreductase activity|zinc ion binding	g.chr16:77859228C>T	AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"""vesicle amine transport protein 1 homolog (T. californica)-like"""			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.449C>T	16.37:g.77859228C>T	ENSP00000303129:p.Pro150Leu						p.P150L	NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN			3	602	+			150					Q8IYW8	Missense_Mutation	SNP	ENST00000302536.2	37	c.449C>T	CCDS32492.1	.	.	.	.	.	.	.	.	.	.	C	32	5.182817	0.94885	.	.	ENSG00000171724	ENST00000302536	T	0.61859	0.07	6.03	6.03	0.97812	GroES-like (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.84014	0.5379	H	0.94734	3.575	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87273	0.2287	10	0.87932	D	0	-4.0777	20.1519	0.98089	0.0:1.0:0.0:0.0	.	150	Q9HCJ6	VAT1L_HUMAN	L	150	ENSP00000303129:P150L	ENSP00000303129:P150L	P	+	2	0	VAT1L	76416729	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	CCG		0.522	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434010.1	NM_020927		14	28	0	0	0	1	0	14	28				
PRRC2A	7916	broad.mit.edu	37	6	31604698	31604698	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:31604698C>G	ENST00000376033.2	+	28	6357	c.6123C>G	c.(6121-6123)ttC>ttG	p.F2041L	PRRC2A_ENST00000376007.4_Missense_Mutation_p.F2041L	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	2041	3 X 50 AA type C repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCAGGCCCTTCCCCGCTAGCT	0.632																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(6121-6123)ttC>ttG		proline-rich coiled-coil 2A							62.0	77.0	72.0					6																	31604698		1507	2707	4214	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31604698C>G	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.6123C>G	6.37:g.31604698C>G	ENSP00000365201:p.Phe2041Leu					PRRC2A_ENST00000376007.4_Missense_Mutation_p.F2041L	p.F2041L	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			28	6357	+			2041			3 X 50 AA type C repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.6123C>G	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.377093	0.24857	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.01725	4.67;4.67	5.48	2.75	0.32379	.	0.000000	0.64402	D	0.000013	T	0.01523	0.0049	N	0.19112	0.55	0.34751	D	0.731815	P	0.52842	0.956	D	0.65010	0.931	T	0.57946	-0.7723	10	0.87932	D	0	-9.2654	8.9971	0.36059	0.0:0.7641:0.0:0.2359	.	2041	P48634	PRC2A_HUMAN	L	2033;2022;2041;2041;1266	ENSP00000365175:F2041L;ENSP00000365201:F2041L	ENSP00000365175:F2041L	F	+	3	2	PRRC2A	31712677	0.985000	0.35326	0.878000	0.34440	0.895000	0.52256	0.315000	0.19451	0.428000	0.26173	-0.148000	0.13756	TTC		0.632	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		12	128	0	0	0	1	0	12	128				
ZSCAN21	7589	broad.mit.edu	37	7	99661659	99661659	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:99661659G>A	ENST00000292450.4	+	4	1005	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	ZNF3_ENST00000413658.2_3'UTR|ZSCAN21_ENST00000543588.1_Intron|ZSCAN21_ENST00000477297.1_Intron|ZSCAN21_ENST00000456748.2_Intron	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	281					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TATATGTGCTGAATGTGGCAA	0.453																																						ENST00000292450.4																			0				breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21						c.(841-843)Gaa>Aaa		zinc finger and SCAN domain containing 21							73.0	70.0	71.0					7																	99661659		2203	4300	6503	SO:0001583	missense	7589				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99661659G>A	AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529		"""-"", ""Zinc fingers, C2H2-type"""	13104	protein-coding gene	gene with protein product		601261	"""zinc finger protein 38 (KOX 25)"", ""zinc finger protein 38"""	ZNF38		2288909, 2014798	Standard	NM_145914		Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.841G>A	7.37:g.99661659G>A	ENSP00000292450:p.Glu281Lys					ZSCAN21_ENST00000456748.2_Intron|ZSCAN21_ENST00000543588.1_Intron|ZSCAN21_ENST00000477297.1_Intron|ZNF3_ENST00000413658.2_3'UTR	p.E281K	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		4	1005	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		281					A4D2A6|D6W5T9|Q9H0B5	Missense_Mutation	SNP	ENST00000292450.4	37	c.841G>A	CCDS5681.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.813993	0.50527	.	.	ENSG00000166529	ENST00000292450;ENST00000379635	T	0.07327	3.2	4.61	4.61	0.57282	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42548	D	0.000693	T	0.13329	0.0323	M	0.64567	1.98	0.80722	D	1	P	0.49862	0.929	B	0.43360	0.417	T	0.01452	-1.1351	10	0.54805	T	0.06	.	15.3593	0.74457	0.0:0.0:1.0:0.0	.	281	Q9Y5A6	ZSC21_HUMAN	K	281;256	ENSP00000292450:E281K	ENSP00000292450:E281K	E	+	1	0	ZSCAN21	99499595	0.167000	0.22975	0.997000	0.53966	0.959000	0.62525	1.357000	0.34090	2.571000	0.86741	0.655000	0.94253	GAA		0.453	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336166.1	NM_145914		6	70	0	0	0	1	0	6	70				
LSMEM1	286006	broad.mit.edu	37	7	112129968	112129968	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:112129968C>T	ENST00000312849.4	+	4	721	c.360C>T	c.(358-360)ctC>ctT	p.L120L	LSMEM1_ENST00000486022.1_3'UTR|LSMEM1_ENST00000439068.2_Silent_p.L120L	NM_182597.2	NP_872403.1	Q8N8F7	LSME1_HUMAN	leucine-rich single-pass membrane protein 1	120						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											TAAAGCGACTCAACCAACTCA	0.388																																						ENST00000312849.4																			0											c.(358-360)ctC>ctT		leucine-rich single-pass membrane protein 1							165.0	153.0	157.0					7																	112129968		2203	4300	6503	SO:0001819	synonymous_variant	286006							g.chr7:112129968C>T	AK096894	CCDS5756.1	7q31.1	2013-03-08	2013-03-08	2013-03-08	ENSG00000181016	ENSG00000181016			22036	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 53"""	C7orf53			Standard	NM_182597		Approved	FLJ39575	uc011kmq.2	Q8N8F7	OTTHUMG00000155190	ENST00000312849.4:c.360C>T	7.37:g.112129968C>T						LSMEM1_ENST00000486022.1_3'UTR|LSMEM1_ENST00000439068.2_Silent_p.L120L	p.L120L	NM_182597.2	NP_872403.1					4	721	+								Q49AR6	Silent	SNP	ENST00000312849.4	37	c.360C>T	CCDS5756.1																																																																																				0.388	LSMEM1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338716.2	NM_182597		5	169	0	0	0	1	0	5	169				
WDFY3	23001	broad.mit.edu	37	4	85642692	85642692	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:85642692G>C	ENST00000295888.4	-	47	7882	c.7475C>G	c.(7474-7476)tCt>tGt	p.S2492C	WDFY3_ENST00000322366.6_Missense_Mutation_p.S2475C	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2492	Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ATCAGGTGCAGATCGGGAGCG	0.498																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(7423-7425)tCt>tGt		WD repeat and FYVE domain containing 3							120.0	108.0	112.0					4																	85642692		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85642692G>C	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.7475C>G	4.37:g.85642692G>C	ENSP00000295888:p.Ser2492Cys					WDFY3_ENST00000295888.4_Missense_Mutation_p.S2492C	p.S2475C			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	46	7831	-		Hepatocellular(203;0.114)	2492					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.7424C>G	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	33	5.273805	0.95459	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000514711	T;T;T	0.66995	-0.24;-0.22;-0.17	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.77805	0.4185	L	0.53249	1.67	0.80722	D	1	D	0.71674	0.998	P	0.58928	0.848	T	0.77368	-0.2614	10	0.66056	D	0.02	.	20.6525	0.99598	0.0:0.0:1.0:0.0	.	2492	Q8IZQ1	WDFY3_HUMAN	C	2475;2492;95	ENSP00000318466:S2475C;ENSP00000295888:S2492C;ENSP00000424987:S95C	ENSP00000295888:S2492C	S	-	2	0	WDFY3	85861716	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	9.420000	0.97426	2.890000	0.99128	0.585000	0.79938	TCT		0.498	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		10	58	0	0	0	1	0	10	58				
FAM21A	387680	broad.mit.edu	37	10	51892695	51892695	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:51892695G>A	ENST00000282633.5	+	31	4061	c.4016G>A	c.(4015-4017)gGa>gAa	p.G1339E	FAM21A_ENST00000399339.2_Missense_Mutation_p.G1251E|FAM21A_ENST00000314664.7_Missense_Mutation_p.G1277E|FAM21A_ENST00000351071.6_Missense_Mutation_p.G1318E	NM_001005751.1	NP_001005751.1	Q641Q2	FA21A_HUMAN	family with sequence similarity 21, member A	1339					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|WASH complex (GO:0071203)				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	15						AATGCCTTTGGAGGCCAGTAG	0.453																																						ENST00000351071.6																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	15						c.(3952-3954)gGa>gAa		family with sequence similarity 21, member A							31.0	29.0	29.0					10																	51892695		1781	3695	5476	SO:0001583	missense	387680				retrograde transport, endosome to Golgi	early endosome membrane|WASH complex		g.chr10:51892695G>A	BC082258	CCDS41527.1	10q11.23	2014-06-19			ENSG00000099290	ENSG00000099290			23416	protein-coding gene	gene with protein product			"""family with sequence similarity 21, member B"""	FAM21B			Standard	XM_005269805		Approved	bA56A21.1, bA98I6.1, FLJ10824	uc001jjb.3	Q641Q2	OTTHUMG00000018225	ENST00000282633.5:c.4016G>A	10.37:g.51892695G>A	ENSP00000282633:p.Gly1339Glu					FAM21A_ENST00000399339.2_Missense_Mutation_p.G1251E|FAM21A_ENST00000282633.5_Missense_Mutation_p.G1339E|FAM21A_ENST00000314664.7_Missense_Mutation_p.G1277E	p.G1318E			Q641Q2	FA21A_HUMAN			30	4071	+			1339					A2A3S2|A2A3U6|Q6DHY0	Missense_Mutation	SNP	ENST00000282633.5	37	c.3953G>A	CCDS41527.1	.	.	.	.	.	.	.	.	.	.	g	17.43	3.387033	0.61956	.	.	ENSG00000099290	ENST00000351071;ENST00000314664;ENST00000282633;ENST00000399339	.	.	.	3.72	3.72	0.42706	.	0.055840	0.64402	D	0.000001	T	0.77644	0.4161	M	0.78637	2.42	0.58432	D	0.999995	D;D;D;D	0.89917	0.996;1.0;1.0;1.0	P;D;D;D	0.97110	0.846;1.0;0.999;1.0	T	0.79736	-0.1678	9	0.49607	T	0.09	-14.389	13.4135	0.60956	0.0:0.0:1.0:0.0	.	1277;1318;1251;1339	E7ESD2;Q641Q2-2;F8W7U3;Q641Q2	.;.;.;FA21A_HUMAN	E	1318;1277;1339;1251	.	ENSP00000282633:G1339E	G	+	2	0	FAM21A	51562701	1.000000	0.71417	0.999000	0.59377	0.590000	0.36582	6.195000	0.72088	1.774000	0.52232	0.184000	0.17185	GGA		0.453	FAM21A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276917.2	NM_001005751		12	47	0	0	0	1	0	12	47				
FLNA	2316	broad.mit.edu	37	X	153595790	153595790	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:153595790C>T	ENST00000369850.3	-	5	1079	c.843G>A	c.(841-843)ccG>ccA	p.P281P	FLNA_ENST00000360319.4_Silent_p.P281P|FLNA_ENST00000422373.1_Silent_p.P281P|FLNA_ENST00000344736.4_Silent_p.P281P	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	281					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)	p.P281P(1)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGCTTTCTTCGGGTTCAGTT	0.622																																						ENST00000422373.1																			1	Substitution - coding silent(1)	p.P281P(1)	lung(1)	breast(6)	6						c.(841-843)ccG>ccA		filamin A, alpha							49.0	54.0	52.0					X																	153595790		2186	4281	6467	SO:0001819	synonymous_variant	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153595790C>T	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.843G>A	X.37:g.153595790C>T						FLNA_ENST00000344736.4_Silent_p.P281P|FLNA_ENST00000360319.4_Silent_p.P281P|FLNA_ENST00000369850.3_Silent_p.P281P	p.P281P	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			5	1091	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		281					E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.843G>A	CCDS48194.1																																																																																				0.622	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			11	88	0	0	0	1	0	11	88				
PCNT	5116	broad.mit.edu	37	21	47831655	47831655	+	Missense_Mutation	SNP	G	G	A	rs201631915		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr21:47831655G>A	ENST00000359568.5	+	28	5775	c.5668G>A	c.(5668-5670)Gag>Aag	p.E1890K	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1890					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CCACTCTGCCGAGCTGGAGGC	0.672																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(5668-5670)Gag>Aag		pericentrin							14.0	16.0	15.0					21																	47831655		2131	4202	6333	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47831655G>A	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.5668G>A	21.37:g.47831655G>A	ENSP00000352572:p.Glu1890Lys					PCNT_ENST00000480896.1_3'UTR	p.E1890K	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			28	5775	+	Breast(49;0.112)		1890					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.5668G>A	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.304960	0.40795	.	.	ENSG00000160299	ENST00000359568	T	0.01871	4.59	5.8	3.83	0.44106	.	0.239759	0.21684	N	0.070666	T	0.03959	0.0111	L	0.36672	1.1	0.26004	N	0.982073	D;D	0.62365	0.99;0.991	P;B	0.49332	0.607;0.403	T	0.30534	-0.9975	10	0.66056	D	0.02	.	12.2072	0.54358	0.0:0.4097:0.5903:0.0	.	1772;1890	O95613-2;O95613	.;PCNT_HUMAN	K	1890	ENSP00000352572:E1890K	ENSP00000352572:E1890K	E	+	1	0	PCNT	46656083	0.912000	0.30974	0.735000	0.30896	0.007000	0.05969	1.219000	0.32479	1.353000	0.45828	0.655000	0.94253	GAG		0.672	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		9	35	0	0	0	1	0	9	35				
ETHE1	23474	broad.mit.edu	37	19	44030378	44030378	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:44030378C>G	ENST00000292147.2	-	3	416	c.350G>C	c.(349-351)gGa>gCa	p.G117A	ZNF575_ENST00000458714.2_5'UTR|ETHE1_ENST00000600651.1_Missense_Mutation_p.G117A	NM_014297.3	NP_055112.2	O95571	ETHE1_HUMAN	ethylmalonic encephalopathy 1	117					cellular nitrogen compound metabolic process (GO:0034641)|glutathione metabolic process (GO:0006749)|hydrogen sulfide metabolic process (GO:0070813)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|sulfur dioxygenase activity (GO:0050313)			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				GATGGAGTCTCCATCCTCAAT	0.612																																						ENST00000600651.1																			0				central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(349-351)gGa>gCa		ethylmalonic encephalopathy 1							70.0	67.0	68.0					19																	44030378		2203	4300	6503	SO:0001583	missense	23474					mitochondrial matrix|nucleus	hydrolase activity|metal ion binding	g.chr19:44030378C>G		CCDS12622.1	19q13.32	2014-06-20				ENSG00000105755	1.13.11.18		23287	protein-coding gene	gene with protein product		608451				19136963	Standard	NM_014297		Approved	YF13H12, HSCO	uc002owp.3	O95571		ENST00000292147.2:c.350G>C	19.37:g.44030378C>G	ENSP00000292147:p.Gly117Ala					ETHE1_ENST00000292147.2_Missense_Mutation_p.G117A|ZNF575_ENST00000458714.2_5'UTR	p.G117A			O95571	ETHE1_HUMAN			3	373	-		Prostate(69;0.0153)	117					Q96HR0|Q9H001	Missense_Mutation	SNP	ENST00000292147.2	37	c.350G>C	CCDS12622.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383335	0.82792	.	.	ENSG00000105755	ENST00000292147	D	0.97642	-4.47	4.33	4.33	0.51752	Beta-lactamase-like (2);	0.116156	0.56097	D	0.000022	D	0.98292	0.9434	M	0.93898	3.47	0.80722	D	1	P;D	0.60160	0.724;0.987	B;P	0.54664	0.446;0.758	D	0.98988	1.0807	10	0.66056	D	0.02	-11.3704	14.7623	0.69614	0.0:1.0:0.0:0.0	.	90;117	B2RCZ7;O95571	.;ETHE1_HUMAN	A	117	ENSP00000292147:G117A	ENSP00000292147:G117A	G	-	2	0	ETHE1	48722218	0.996000	0.38824	0.756000	0.31282	0.997000	0.91878	4.526000	0.60566	2.414000	0.81942	0.555000	0.69702	GGA		0.612	ETHE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463184.1	NM_014297		4	104	0	0	0	1	0	4	104				
OR10G7	390265	broad.mit.edu	37	11	123909026	123909026	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:123909026C>T	ENST00000330487.5	-	1	691	c.683G>A	c.(682-684)cGc>cAc	p.R228H		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTCTGAGGTGCGGATCCGCAG	0.537																																						ENST00000330487.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47						c.(682-684)cGc>cAc		olfactory receptor, family 10, subfamily G, member 7							138.0	119.0	126.0					11																	123909026		2201	4299	6500	SO:0001583	missense	390265				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123909026C>T	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"""GPCR / Class A : Olfactory receptors"""	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.683G>A	11.37:g.123909026C>T	ENSP00000329689:p.Arg228His						p.R228H	NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	691	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	228					Q6IFE8	Missense_Mutation	SNP	ENST00000330487.5	37	c.683G>A	CCDS31705.1	.	.	.	.	.	.	.	.	.	.	C	3.124	-0.179813	0.06380	.	.	ENSG00000182634	ENST00000330487	T	0.39229	1.09	3.38	1.49	0.22878	GPCR, rhodopsin-like superfamily (1);	0.566427	0.16064	N	0.231343	T	0.25568	0.0622	L	0.28556	0.865	0.20074	N	0.999935	B	0.09022	0.002	B	0.17979	0.02	T	0.20042	-1.0287	10	0.20046	T	0.44	.	5.6004	0.17351	0.0:0.5333:0.2729:0.1938	.	228	Q8NGN6	O10G7_HUMAN	H	228	ENSP00000329689:R228H	ENSP00000329689:R228H	R	-	2	0	OR10G7	123414236	0.000000	0.05858	0.974000	0.42286	0.400000	0.30750	-1.370000	0.02575	0.271000	0.22005	-0.232000	0.12228	CGC		0.537	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		36	85	0	0	0	1	0	36	85				
ASTN1	460	broad.mit.edu	37	1	176845718	176845718	+	Missense_Mutation	SNP	T	T	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:176845718T>G	ENST00000367654.3	-	21	3653	c.3442A>C	c.(3442-3444)Atc>Ctc	p.I1148L	ASTN1_ENST00000361833.2_Missense_Mutation_p.I1140L|ASTN1_ENST00000367657.3_Missense_Mutation_p.I1140L|ASTN1_ENST00000424564.2_Missense_Mutation_p.I1140L	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1148					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GTCTTCACGATCACGTCGCTT	0.582																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(3442-3444)Atc>Ctc		astrotactin 1							144.0	109.0	121.0					1																	176845718		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176845718T>G	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3442A>C	1.37:g.176845718T>G	ENSP00000356626:p.Ile1148Leu					ASTN1_ENST00000361833.2_Missense_Mutation_p.I1140L|ASTN1_ENST00000424564.2_Missense_Mutation_p.I1140L|ASTN1_ENST00000367657.3_Missense_Mutation_p.I1140L	p.I1148L			O14525	ASTN1_HUMAN			21	3455	-			1148					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.3442A>C		.	.	.	.	.	.	.	.	.	.	T	16.45	3.125353	0.56721	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.39056	1.1;1.1;1.1;1.1	5.34	5.34	0.76211	.	0.050706	0.85682	D	0.000000	T	0.26738	0.0654	N	0.08118	0	0.35731	D	0.817949	B;B	0.10296	0.003;0.003	B;B	0.09377	0.004;0.004	T	0.25117	-1.0141	10	0.72032	D	0.01	-10.5697	14.9841	0.71332	0.0:0.0:0.0:1.0	.	1140;1140	O14525-2;B1AJS1	.;.	L	1140;1140;1148;1140;1140	ENSP00000356629:I1140L;ENSP00000354536:I1140L;ENSP00000356626:I1148L;ENSP00000395041:I1140L	ENSP00000354536:I1140L	I	-	1	0	ASTN1	175112341	1.000000	0.71417	0.993000	0.49108	0.618000	0.37518	5.966000	0.70395	2.005000	0.58758	0.533000	0.62120	ATC		0.582	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		7	62	0	0	0	1	0	7	62				
CIDECP	152302	broad.mit.edu	37	3	10059465	10059465	+	RNA	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:10059465C>G	ENST00000432401.1	-	0	505									cell death-inducing DFFA-like effector c pseudogene																		CCTCCTCACTCAGGGTCCTGT	0.632																																						ENST00000432401.1																			0																																																			0							g.chr3:10059465C>G	AF279614		3p25.3	2007-07-26			ENSG00000186162	ENSG00000186162			24230	pseudogene	pseudogene							Standard	NR_002786		Approved	CICE			OTTHUMG00000155323		3.37:g.10059465C>G														0	505	-									RNA	SNP	ENST00000432401.1	37																																																																																						0.632	CIDECP-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000339463.1			3	20	0	0	0	1	0	3	20				
PCNT	5116	broad.mit.edu	37	21	47831205	47831205	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr21:47831205G>C	ENST00000359568.5	+	28	5325	c.5218G>C	c.(5218-5220)Gaa>Caa	p.E1740Q	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1740					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGAGGAAATTGAACAACTCCA	0.468																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(5218-5220)Gaa>Caa		pericentrin							86.0	97.0	93.0					21																	47831205		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47831205G>C	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.5218G>C	21.37:g.47831205G>C	ENSP00000352572:p.Glu1740Gln					PCNT_ENST00000480896.1_3'UTR	p.E1740Q	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			28	5325	+	Breast(49;0.112)		1740					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.5218G>C	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189804	0.57909	.	.	ENSG00000160299	ENST00000359568	T	0.02258	4.37	5.51	5.51	0.81932	.	0.000000	0.34338	N	0.004053	T	0.13713	0.0332	M	0.82630	2.6	0.39922	D	0.974168	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.04915	-1.0918	10	0.27785	T	0.31	.	16.9111	0.86140	0.0:0.0:1.0:0.0	.	1622;1740	O95613-2;O95613	.;PCNT_HUMAN	Q	1740	ENSP00000352572:E1740Q	ENSP00000352572:E1740Q	E	+	1	0	PCNT	46655633	1.000000	0.71417	0.383000	0.26132	0.027000	0.11550	7.708000	0.84633	2.589000	0.87451	0.655000	0.94253	GAA		0.468	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		14	95	0	0	0	1	0	14	95				
ZNF610	162963	broad.mit.edu	37	19	52869526	52869526	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:52869526G>C	ENST00000403906.3	+	6	1351	c.895G>C	c.(895-897)Gag>Cag	p.E299Q	ZNF610_ENST00000327920.8_Missense_Mutation_p.E299Q|ZNF610_ENST00000601151.1_Missense_Mutation_p.E256Q|ZNF610_ENST00000321287.8_Missense_Mutation_p.E299Q	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	299					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		AGCTTTTAGAGAGTGTTCGGG	0.398																																						ENST00000601151.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34						c.(766-768)Gag>Cag		zinc finger protein 610							53.0	49.0	50.0					19																	52869526		2203	4300	6503	SO:0001583	missense	162963				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52869526G>C	AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"""Zinc fingers, C2H2-type"", ""-"""	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.895G>C	19.37:g.52869526G>C	ENSP00000383922:p.Glu299Gln					ZNF610_ENST00000327920.8_Missense_Mutation_p.E299Q|ZNF610_ENST00000321287.8_Missense_Mutation_p.E299Q|ZNF610_ENST00000403906.3_Missense_Mutation_p.E299Q	p.E256Q	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)	5	1218	+			299					A8K4C3|Q86YH8|Q8NDS9	Missense_Mutation	SNP	ENST00000403906.3	37	c.766G>C	CCDS12851.1	.	.	.	.	.	.	.	.	.	.	G	2.080	-0.410974	0.04799	.	.	ENSG00000167554	ENST00000403906;ENST00000321287;ENST00000327920	T;T	0.07444	3.19;3.19	1.41	-1.98	0.07480	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01523	0.0049	N	0.00395	-1.55	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.16289	0.009;0.015	T	0.46162	-0.9211	9	0.02654	T	1	.	4.4026	0.11393	0.2064:0.4918:0.3018:0.0	.	256;299	Q8N9Z0-2;Q8N9Z0	.;ZN610_HUMAN	Q	299;256;299	ENSP00000383922:E299Q;ENSP00000327597:E299Q	ENSP00000324441:E256Q	E	+	1	0	ZNF610	57561338	0.000000	0.05858	0.000000	0.03702	0.233000	0.25261	-6.643000	0.00058	-0.071000	0.12886	0.313000	0.20887	GAG		0.398	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1	NM_173530		7	30	0	0	0	1	0	7	30				
EIF2S2	8894	broad.mit.edu	37	20	32677668	32677668	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:32677668G>A	ENST00000374980.2	-	9	1091	c.870C>T	c.(868-870)atC>atT	p.I290I		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	290					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|male germ cell proliferation (GO:0002176)|male gonad development (GO:0008584)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						CCTTCTGCAGGATTGTGTCCG	0.473																																						ENST00000374980.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						c.(868-870)atC>atT		eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa							147.0	124.0	132.0					20																	32677668		2203	4300	6503	SO:0001819	synonymous_variant	8894					cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity	g.chr20:32677668G>A	M29536	CCDS13231.1	20q11.2	2012-04-17	2002-08-29		ENSG00000125977	ENSG00000125977		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	3266	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 67"""	603908	"""eukaryotic translation initiation factor 2, subunit 2 (beta, 38kD )"""	EIF2		3044606	Standard	XM_005260605		Approved	EIF2beta, PPP1R67	uc031rsu.1	P20042	OTTHUMG00000032287	ENST00000374980.2:c.870C>T	20.37:g.32677668G>A							p.I290I	NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN			9	1091	-			290					Q9BVU0|Q9UJE4	Silent	SNP	ENST00000374980.2	37	c.870C>T	CCDS13231.1																																																																																				0.473	EIF2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078765.2	NM_003908		4	81	0	0	0	1	0	4	81				
PTCHD2	57540	broad.mit.edu	37	1	11589956	11589956	+	Silent	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:11589956C>G	ENST00000294484.6	+	15	3180	c.3042C>G	c.(3040-3042)gtC>gtG	p.V1014V	PTCHD2_ENST00000389575.3_Silent_p.V1014V	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1014					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TCTTTGTGGTCTTCGGCATTA	0.647																																						ENST00000294484.6																			0				NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76						c.(3040-3042)gtC>gtG		patched domain containing 2							89.0	104.0	99.0					1																	11589956		1985	4152	6137	SO:0001819	synonymous_variant	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11589956C>G	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.3042C>G	1.37:g.11589956C>G						PTCHD2_ENST00000389575.3_Silent_p.V1014V	p.V1014V	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	15	3180	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	1014					Q5VTU9|Q9UJD6	Silent	SNP	ENST00000294484.6	37	c.3042C>G	CCDS41247.1																																																																																				0.647	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		10	85	0	0	0	1	0	10	85				
IGKV1-33	28933	broad.mit.edu	37	2	89568211	89568211	+	RNA	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:89568211G>C	ENST00000473726.1	-	0	52									immunoglobulin kappa variable 1-33																		CCCAGGAGCTGAGCAGGGACC	0.557																																						ENST00000473726.1																			0																				67.0	53.0	58.0					2																	89568211		1871	4077	5948			0							g.chr2:89568211G>C	M64856		2p11.2	2012-02-10			ENSG00000242076	ENSG00000242076		"""Immunoglobulins / IGK locus"""	5737	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV133, O18			OTTHUMG00000151682		2.37:g.89568211G>C														0	52	-									RNA	SNP	ENST00000473726.1	37																																																																																						0.557	IGKV1-33-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323480.1	NG_000834		7	61	0	0	0	1	0	7	61				
KIAA0753	9851	broad.mit.edu	37	17	6502605	6502605	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:6502605C>G	ENST00000361413.3	-	14	2482	c.2124G>C	c.(2122-2124)ttG>ttC	p.L708F	KIAA0753_ENST00000575027.1_5'UTR|KIAA0753_ENST00000542606.1_Missense_Mutation_p.L409F|KIAA0753_ENST00000589033.1_Missense_Mutation_p.L164F|KIAA0753_ENST00000572370.1_Missense_Mutation_p.L409F|RNA5SP435_ENST00000364044.1_RNA	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	708						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		AGCCATCTTTCAAATGAATAT	0.363																																						ENST00000361413.3																			0				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24						c.(2122-2124)ttG>ttC		KIAA0753							92.0	87.0	89.0					17																	6502605		1925	4136	6061	SO:0001583	missense	9851					centrosome		g.chr17:6502605C>G		CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.2124G>C	17.37:g.6502605C>G	ENSP00000355250:p.Leu708Phe					KIAA0753_ENST00000575027.1_5'UTR|KIAA0753_ENST00000542606.1_Missense_Mutation_p.L409F|KIAA0753_ENST00000589033.1_Missense_Mutation_p.L164F|KIAA0753_ENST00000572370.1_Missense_Mutation_p.L409F	p.L708F	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN		COAD - Colon adenocarcinoma(228;0.157)	14	2482	-			708					A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Missense_Mutation	SNP	ENST00000361413.3	37	c.2124G>C	CCDS42247.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.842969	0.32606	.	.	ENSG00000198920	ENST00000361413;ENST00000542606;ENST00000542826	T;T	0.12255	2.86;2.7	4.98	2.92	0.33932	.	0.534254	0.18703	N	0.133539	T	0.14141	0.0342	M	0.64997	1.995	0.34954	D	0.75156	B	0.27679	0.185	B	0.26864	0.074	T	0.08617	-1.0713	10	0.54805	T	0.06	-0.115	6.5462	0.22406	0.1791:0.7262:0.0:0.0947	.	708	Q2KHM9	K0753_HUMAN	F	708;409;164	ENSP00000355250:L708F;ENSP00000444634:L409F	ENSP00000355250:L708F	L	-	3	2	KIAA0753	6443329	0.526000	0.26298	0.362000	0.25862	0.064000	0.16182	0.867000	0.27968	0.729000	0.32403	0.563000	0.77884	TTG		0.363	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804		5	34	0	0	0	1	0	5	34				
CAPN11	11131	broad.mit.edu	37	6	44144372	44144372	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:44144372G>C	ENST00000398776.1	+	10	1094	c.1056G>C	c.(1054-1056)aaG>aaC	p.K352N	CAPN11_ENST00000542245.1_Missense_Mutation_p.K352N	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	352	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGCTGCACAAGACGGAGGACG	0.627																																						ENST00000542245.1																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36						c.(1054-1056)aaG>aaC		calpain 11							95.0	110.0	105.0					6																	44144372		2100	4239	6339	SO:0001583	missense	11131				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr6:44144372G>C	AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"""EF-hand domain containing"""	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.1056G>C	6.37:g.44144372G>C	ENSP00000381758:p.Lys352Asn					CAPN11_ENST00000398776.1_Missense_Mutation_p.K352N	p.K352N			Q9UMQ6	CAN11_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		10	1094	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		352			Calpain catalytic.		B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP	ENST00000398776.1	37	c.1056G>C	CCDS47436.1	.	.	.	.	.	.	.	.	.	.	G	5.978	0.364457	0.11296	.	.	ENSG00000137225	ENST00000398776;ENST00000542245	D;D	0.88201	-2.35;-2.35	4.57	3.67	0.42095	Peptidase C2, calpain, catalytic domain (3);	1.062400	0.07341	N	0.880819	T	0.77611	0.4156	L	0.42529	1.33	0.22591	N	0.998954	B;B	0.21309	0.015;0.054	B;B	0.17433	0.018;0.012	T	0.70000	-0.4992	10	0.45353	T	0.12	.	13.5874	0.61940	0.0:0.1569:0.8431:0.0	.	6;352	B4DT90;Q9UMQ6	.;CAN11_HUMAN	N	352	ENSP00000381758:K352N;ENSP00000441078:K352N	ENSP00000381758:K352N	K	+	3	2	CAPN11	44252350	0.011000	0.17503	0.497000	0.27552	0.015000	0.08874	1.245000	0.32790	1.111000	0.41721	0.543000	0.68304	AAG		0.627	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3			11	68	0	0	0	1	0	11	68				
SMARCC2	6601	broad.mit.edu	37	12	56566438	56566438	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:56566438C>T	ENST00000267064.4	-	18	1787	c.1701G>A	c.(1699-1701)gaG>gaA	p.E567E	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000394023.3_Silent_p.E598E|SMARCC2_ENST00000550164.1_Silent_p.E598E|SMARCC2_ENST00000347471.4_Silent_p.E598E	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	567					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CTGTTGGTTTCTCTTTGCCTT	0.498																																						ENST00000394023.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(1792-1794)gaG>gaA		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2							216.0	193.0	201.0					12																	56566438		2203	4300	6503	SO:0001819	synonymous_variant	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56566438C>T	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.1701G>A	12.37:g.56566438C>T						SMARCC2_ENST00000347471.4_Silent_p.E598E|SMARCC2_ENST00000267064.4_Silent_p.E567E|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Silent_p.E598E	p.E598E	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		19	1899	-			567			SANT.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Silent	SNP	ENST00000267064.4	37	c.1794G>A	CCDS8907.1																																																																																				0.498	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			13	131	0	0	0	1	0	13	131				
SLU7	10569	broad.mit.edu	37	5	159830471	159830471	+	Splice_Site	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:159830471C>T	ENST00000297151.4	-	16	1969	c.1582G>A	c.(1582-1584)Gca>Aca	p.A528T		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	528					alternative mRNA splicing, via spliceosome (GO:0000380)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	pre-mRNA 3'-splice site binding (GO:0030628)|second spliceosomal transesterification activity (GO:0000386)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCGTTCAGTGCCTATAGTGAG	0.458																																						ENST00000297151.4																			0				endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20						c.e16-1		SLU7 splicing factor homolog (S. cerevisiae)							146.0	139.0	142.0					5																	159830471		2203	4300	6503	SO:0001630	splice_region_variant	10569				alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding	g.chr5:159830471C>T	AF101074	CCDS4352.1	5q33.3	2010-04-13			ENSG00000164609	ENSG00000164609			16939	protein-coding gene	gene with protein product	zinc knuckle motif containing	605974				10197984, 15728250	Standard	NM_006425		Approved	9G8	uc003lyg.3	O95391	OTTHUMG00000130324	ENST00000297151.4:c.1582-1G>A	5.37:g.159830471C>T							p.A528_splice	NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		16	1969	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	528					D3DQK2|Q3LUJ0|Q3LUJ1|Q6RXQ5|Q96FM9	Splice_Site	SNP	ENST00000297151.4	37	c.1581_splice	CCDS4352.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.670122	0.88348	.	.	ENSG00000164609	ENST00000297151	T	0.36340	1.26	5.59	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.47673	0.1458	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.50242	-0.8851	10	0.72032	D	0.01	-0.0591	15.8484	0.78907	0.1363:0.8637:0.0:0.0	.	528	O95391	SLU7_HUMAN	T	528	ENSP00000297151:A528T	ENSP00000297151:A528T	A	-	1	0	SLU7	159763049	1.000000	0.71417	1.000000	0.80357	0.628000	0.37860	7.271000	0.78506	2.628000	0.89032	0.655000	0.94253	GCA		0.458	SLU7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252673.1	NM_006425	Missense_Mutation	58	72	0	0	0	1	0	58	72				
MICAL2	9645	broad.mit.edu	37	11	12280035	12280035	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:12280035C>T	ENST00000256194.4	+	25	3451	c.3163C>T	c.(3163-3165)Cac>Tac	p.H1055Y	MICAL2_ENST00000379612.3_Missense_Mutation_p.H829Y|MICAL2_ENST00000527546.1_Missense_Mutation_p.H865Y|MICAL2_ENST00000342902.5_Missense_Mutation_p.H1034Y|RP11-265D17.2_ENST00000527288.1_RNA|MICAL2_ENST00000537344.1_Missense_Mutation_p.H865Y	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	1055	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CTGCAAGCCTCACTTCATTCA	0.418																																						ENST00000256194.4																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47						c.(3163-3165)Cac>Tac		microtubule associated monooxygenase, calponin and LIM domain containing 2							102.0	102.0	102.0					11																	12280035		2201	4294	6495	SO:0001583	missense	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12280035C>T	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.3163C>T	11.37:g.12280035C>T	ENSP00000256194:p.His1055Tyr					MICAL2_ENST00000537344.1_Missense_Mutation_p.H865Y|MICAL2_ENST00000342902.5_Missense_Mutation_p.H1034Y|MICAL2_ENST00000527546.1_Missense_Mutation_p.H865Y|MICAL2_ENST00000379612.3_Missense_Mutation_p.H829Y	p.H1055Y	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	25	3451	+			1055			LIM zinc-binding.		B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	c.3163C>T	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.800482	0.90538	.	.	ENSG00000133816	ENST00000537344;ENST00000544073;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	D;D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36;-2.36	5.69	5.69	0.88448	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.96993	0.9018	H	0.97962	4.115	0.46078	D	0.998856	D;D;D;P;D;D	0.76494	0.988;0.991;0.999;0.94;0.999;0.997	P;P;D;D;D;D	0.83275	0.88;0.851;0.996;0.937;0.996;0.945	D	0.98128	1.0429	10	0.87932	D	0	.	19.4007	0.94629	0.0:1.0:0.0:0.0	.	398;1034;865;808;829;1055	B4DYS3;G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;.;MICA2_HUMAN	Y	865;398;1055;865;1034;829	ENSP00000441689:H865Y;ENSP00000256194:H1055Y;ENSP00000433965:H865Y;ENSP00000344894:H1034Y;ENSP00000368932:H829Y	ENSP00000256194:H1055Y	H	+	1	0	MICAL2	12236611	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.500000	0.81588	2.682000	0.91365	0.655000	0.94253	CAC		0.418	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		4	84	0	0	0	1	0	4	84				
POF1B	79983	broad.mit.edu	37	X	84601021	84601021	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:84601021G>A	ENST00000262753.4	-	6	713	c.568C>T	c.(568-570)Cat>Tat	p.H190Y	POF1B_ENST00000373145.3_Missense_Mutation_p.H190Y	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	190						tight junction (GO:0005923)				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						ATAATGTGATGATGGCATTGA	0.438																																						ENST00000262753.4																			0				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						c.(568-570)Cat>Tat		premature ovarian failure, 1B							162.0	127.0	139.0					X																	84601021		2202	4300	6502	SO:0001583	missense	79983						actin binding	g.chrX:84601021G>A	BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.568C>T	X.37:g.84601021G>A	ENSP00000262753:p.His190Tyr					POF1B_ENST00000373145.3_Missense_Mutation_p.H190Y	p.H190Y	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN			6	713	-			190					A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Missense_Mutation	SNP	ENST00000262753.4	37	c.568C>T	CCDS14452.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.772114	0.31320	.	.	ENSG00000124429	ENST00000262753;ENST00000373145;ENST00000276124	T;T	0.10288	2.89;2.89	4.56	4.56	0.56223	.	0.000000	0.53938	D	0.000044	T	0.20901	0.0503	L	0.47716	1.5	0.28825	N	0.897471	P;D	0.61080	0.886;0.989	B;D	0.70487	0.359;0.969	T	0.03555	-1.1025	10	0.13470	T	0.59	.	11.5973	0.50981	0.0:0.0:1.0:0.0	.	190;190	Q8WVV4-1;Q8WVV4	.;POF1B_HUMAN	Y	190	ENSP00000262753:H190Y;ENSP00000362238:H190Y	ENSP00000262753:H190Y	H	-	1	0	POF1B	84487677	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	3.983000	0.56916	2.217000	0.71921	0.594000	0.82650	CAT		0.438	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057391.2	NM_024921		5	47	0	0	0	1	0	5	47				
SDF4	51150	broad.mit.edu	37	1	1152961	1152961	+	Silent	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:1152961G>C	ENST00000360001.6	-	7	1282	c.1020C>G	c.(1018-1020)ctC>ctG	p.L340L	SDF4_ENST00000263741.7_3'UTR			Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	340	EF-hand 6. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Necessary for intracellular retention in Golgi apparatus lumen. {ECO:0000250}.				calcium ion-dependent exocytosis (GO:0017156)|cerebellum development (GO:0021549)|fat cell differentiation (GO:0045444)|response to ethanol (GO:0045471)|UV protection (GO:0009650)|zymogen granule exocytosis (GO:0070625)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|late endosome (GO:0005770)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		CGCTGTACTTGAGCACCTCCT	0.662																																						ENST00000360001.6																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						c.(1018-1020)ctC>ctG		stromal cell derived factor 4							92.0	96.0	95.0					1																	1152961		2203	4299	6502	SO:0001819	synonymous_variant	51150				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding	g.chr1:1152961G>C		CCDS12.1, CCDS30553.1	1p36.33	2013-01-10			ENSG00000078808	ENSG00000078808		"""EF-hand domain containing"""	24188	protein-coding gene	gene with protein product	"""calcium binding protein"""	614282				9254016, 8609160	Standard	NM_016176		Approved	Cab45	uc001adh.4	Q9BRK5	OTTHUMG00000001812	ENST00000360001.6:c.1020C>G	1.37:g.1152961G>C						SDF4_ENST00000263741.7_3'UTR	p.L340L			Q9BRK5	CAB45_HUMAN		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)	7	1282	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	340			EF-hand 6.|Necessary for intracellular retention in Golgi apparatus lumen (By similarity).		B1AME5|B1AME6|B2RDF1|B4DSM1|Q53G52|Q53HQ9|Q8NBQ3|Q96AA1|Q9NZP7|Q9UN53	Silent	SNP	ENST00000360001.6	37	c.1020C>G	CCDS30553.1																																																																																				0.662	SDF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005064.1	NM_016176		9	60	0	0	0	1	0	9	60				
FBXW7	55294	broad.mit.edu	37	4	153249385	153249385	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:153249385G>A	ENST00000281708.4	-	9	2622	c.1393C>T	c.(1393-1395)Cgt>Tgt	p.R465C	FBXW7_ENST00000603548.1_Missense_Mutation_p.R465C|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289C|FBXW7_ENST00000296555.5_Missense_Mutation_p.R347C|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465C|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	465			R -> C (in a acute lymphoblastic leukemia cell line). {ECO:0000269|PubMed:11565033}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R465C(71)|p.R226C(11)|p.R385C(11)|p.R347C(3)|p.R465Y(2)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGCATACAACGCACAGTGGAA	0.413			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		99	Substitution - Missense(98)|Unknown(1)	p.R465C(71)|p.R226C(11)|p.R385C(11)|p.R347C(3)|p.R465Y(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(41)|large_intestine(27)|endometrium(20)|stomach(6)|biliary_tract(4)|pancreas(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1393-1395)Cgt>Tgt		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							260.0	223.0	235.0					4																	153249385		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153249385G>A	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1393C>T	4.37:g.153249385G>A	ENSP00000281708:p.Arg465Cys					FBXW7_ENST00000296555.5_Missense_Mutation_p.R347C|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385C|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289C|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465C|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465C	p.R465C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			9	2622	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	465		R -> C (in a acute lymphoblastic leukemia cell line).|R -> H (in a colorectal cancer sample; somatic mutation).			B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1393C>T	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.909959	0.92107	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	6.05	6.05	0.98169	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.67287	0.2877	M	0.71206	2.165	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;1.0	T	0.67130	-0.5748	10	0.87932	D	0	-17.2313	20.6013	0.99457	0.0:0.0:1.0:0.0	.	289;465;347;385	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	C	465;347;385;289	ENSP00000281708:R465C;ENSP00000296555:R347C;ENSP00000263981:R385C;ENSP00000377528:R289C	ENSP00000263981:R385C	R	-	1	0	FBXW7	153468835	1.000000	0.71417	0.959000	0.39883	0.996000	0.88848	9.869000	0.99810	2.878000	0.98634	0.650000	0.86243	CGT		0.413	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			51	72	0	0	0	1	0	51	72				
RALGAPB	57148	broad.mit.edu	37	20	37146598	37146598	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:37146598C>T	ENST00000262879.6	+	9	1656	c.1372C>T	c.(1372-1374)Cac>Tac	p.H458Y	RALGAPB_ENST00000537204.1_Missense_Mutation_p.H458Y|RALGAPB_ENST00000397038.1_Missense_Mutation_p.H236Y|RALGAPB_ENST00000397040.1_Missense_Mutation_p.H458Y|RALGAPB_ENST00000397042.3_Missense_Mutation_p.H458Y|MIR548O2_ENST00000583129.1_RNA			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	458					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AGCATTTGTTCACTGTAAACT	0.388																																						ENST00000262879.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(1372-1374)Cac>Tac		Ral GTPase activating protein, beta subunit (non-catalytic)							118.0	113.0	114.0					20																	37146598		2203	4300	6503	SO:0001583	missense	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37146598C>T	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1372C>T	20.37:g.37146598C>T	ENSP00000262879:p.His458Tyr					RALGAPB_ENST00000397038.1_Missense_Mutation_p.H236Y|RALGAPB_ENST00000537204.1_Missense_Mutation_p.H458Y|RALGAPB_ENST00000397040.1_Missense_Mutation_p.H458Y|RALGAPB_ENST00000397042.3_Missense_Mutation_p.H458Y	p.H458Y			Q86X10	RLGPB_HUMAN			9	1656	+			458					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	c.1372C>T	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.710211	0.68730	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000537204;ENST00000397040;ENST00000438490	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.70736	0.3258	L	0.47716	1.5	0.58432	D	0.999999	D;D;D;D;D	0.61080	0.978;0.989;0.978;0.978;0.978	P;D;P;P;P	0.70487	0.647;0.969;0.647;0.731;0.731	T	0.62666	-0.6806	9	0.02654	T	1	.	19.6909	0.96000	0.0:1.0:0.0:0.0	.	458;286;458;458;458	B4E2E8;A2A2F0;Q86X10-4;A2A2E9;Q86X10	.;.;.;.;RLGPB_HUMAN	Y	458;458;458;236;458;458;286	.	ENSP00000262879:H458Y	H	+	1	0	RALGAPB	36580012	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.920000	0.70017	2.668000	0.90789	0.650000	0.86243	CAC		0.388	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		9	70	0	0	0	1	0	9	70				
FANCM	57697	broad.mit.edu	37	14	45665636	45665636	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:45665636C>G	ENST00000267430.5	+	21	5687	c.5602C>G	c.(5602-5604)Caa>Gaa	p.Q1868E	FANCM_ENST00000542564.2_Missense_Mutation_p.Q1842E	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1868	Interaction with FAAP24 and EME1.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAGGAGGTCTCAATCTGAGAT	0.403								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(5602-5604)Caa>Gaa	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							154.0	139.0	144.0					14																	45665636		2203	4300	6503	SO:0001583	missense	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45665636C>G	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.5602C>G	14.37:g.45665636C>G	ENSP00000267430:p.Gln1868Glu					FANCM_ENST00000542564.2_Missense_Mutation_p.Q1842E	p.Q1868E	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			21	5687	+			1868			Interaction with FAAP24 and EME1.		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.5602C>G	CCDS32070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.983038|3.983038	0.74474|0.74474	.|.	.|.	ENSG00000187790|ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250|ENST00000554809	T;T;T|.	0.20598|.	2.69;2.67;2.06|.	5.27|5.27	5.27|5.27	0.74061|0.74061	DNA repair nuclease, XPF-type/Helicase (1);Restriction endonuclease, type II-like (1);ERCC4 domain (1);|.	0.137522|.	0.49916|.	D|.	0.000129|.	T|.	0.68155|.	0.2970|.	L|L	0.57536|0.57536	1.79|1.79	0.34996|0.34996	D|D	0.755497|0.755497	D;D|.	0.67145|.	0.996;0.996|.	P;P|.	0.54499|.	0.754;0.754|.	T|.	0.73652|.	-0.3915|.	10|.	0.46703|.	T|.	0.11|.	.|.	18.5024|18.5024	0.90887|0.90887	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1842;1868|.	B2RTQ9;Q8IYD8|.	.;FANCM_HUMAN|.	E|X	1868;1842;1384|835	ENSP00000267430:Q1868E;ENSP00000442493:Q1842E;ENSP00000452033:Q1384E|.	ENSP00000267430:Q1868E|.	Q|S	+|+	1|2	0|0	FANCM|FANCM	44735386|44735386	0.042000|0.042000	0.20092|0.20092	0.719000|0.719000	0.30619|0.30619	0.947000|0.947000	0.59692|0.59692	2.407000|2.407000	0.44565|0.44565	2.468000|2.468000	0.83385|0.83385	0.563000|0.563000	0.77884|0.77884	CAA|TCA		0.403	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		8	66	0	0	0	1	0	8	66				
CNR1	1268	broad.mit.edu	37	6	88854953	88854953	+	Missense_Mutation	SNP	C	C	A	rs142010122		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:88854953C>A	ENST00000537554.1	-	2	3603	c.41G>T	c.(40-42)cGc>cTc	p.R14L	CNR1_ENST00000362094.5_Missense_Mutation_p.R14L|CNR1_ENST00000369499.2_Missense_Mutation_p.R14L|CNR1_ENST00000369501.2_Missense_Mutation_p.R14L|CNR1_ENST00000549716.1_Missense_Mutation_p.A9S|CNR1_ENST00000468898.1_Missense_Mutation_p.R14L|CNR1_ENST00000549890.1_Missense_Mutation_p.R14L|CNR1_ENST00000535130.1_Missense_Mutation_p.R14L|CNR1_ENST00000428600.2_Missense_Mutation_p.R14L	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	14					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	GGTGATGGTGCGGAAGGTGGT	0.483																																						ENST00000537554.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37						c.(40-42)cGc>cTc		cannabinoid receptor 1 (brain)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)						172.0	148.0	156.0					6																	88854953		2203	4300	6503	SO:0001583	missense	0				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	g.chr6:88854953C>A	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"""GPCR / Class A : Cannabinoid receptors"""	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.41G>T	6.37:g.88854953C>A	ENSP00000441046:p.Arg14Leu					CNR1_ENST00000369499.2_Missense_Mutation_p.R14L|CNR1_ENST00000549890.1_Missense_Mutation_p.R14L|CNR1_ENST00000535130.1_Missense_Mutation_p.R14L|CNR1_ENST00000428600.2_Missense_Mutation_p.R14L|CNR1_ENST00000549716.1_Missense_Mutation_p.A9S|CNR1_ENST00000362094.5_Missense_Mutation_p.R14L|CNR1_ENST00000369501.2_Missense_Mutation_p.R14L|CNR1_ENST00000468898.1_Missense_Mutation_p.R14L	p.R14L	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.15)	2	3603	-		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	14					B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP	ENST00000537554.1	37	c.41G>T	CCDS5015.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.49|17.49	3.402819|3.402819	0.62288|0.62288	.|.	.|.	ENSG00000118432|ENSG00000118432	ENST00000549716|ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000362094;ENST00000468898;ENST00000428600;ENST00000551417	T|T;T;T;T;T;D;T	0.74737|0.88354	-0.87|-0.99;-0.99;-0.99;-0.99;-0.99;-2.37;-0.99	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.110918	.|0.64402	.|D	.|0.000008	D|D	0.90072|0.90072	0.6899|0.6899	L|L	0.29908|0.29908	0.895|0.895	0.34127|0.34127	D|D	0.664812|0.664812	.|D;P	.|0.63046	.|0.992;0.841	.|D;B	.|0.70487	.|0.969;0.303	D|D	0.91144|0.91144	0.4948|0.4948	7|10	0.52906|0.87932	T|D	0.07|0	.|.	20.0015|20.0015	0.97412|0.97412	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|14;14	.|P21554-3;P21554	.|.;CNR1_HUMAN	S|L	9|14	ENSP00000449549:A9S|ENSP00000358513:R14L;ENSP00000442689:R14L;ENSP00000441046:R14L;ENSP00000358511:R14L;ENSP00000446819:R14L;ENSP00000420188:R14L;ENSP00000412192:R14L	ENSP00000449549:A9S|ENSP00000355418:R14L	A|R	-|-	1|2	0|0	CNR1|CNR1	88911672|88911672	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.487000|7.487000	0.81328|0.81328	2.732000|2.732000	0.93576|0.93576	0.563000|0.563000	0.77884|0.77884	GCA|CGC		0.483	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			11	118	1	0	3.07112e-06	1	3.2269e-06	11	118				
MACF1	23499	broad.mit.edu	37	1	39919466	39919466	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:39919466G>A	ENST00000372915.3	+	87	20614	c.20527G>A	c.(20527-20529)Gat>Aat	p.D6843N	MACF1_ENST00000567887.1_Missense_Mutation_p.D6981N|MACF1_ENST00000289893.4_Missense_Mutation_p.D5387N|MACF1_ENST00000539005.1_Missense_Mutation_p.D4755N|MACF1_ENST00000564288.1_Missense_Mutation_p.D6944N|MACF1_ENST00000317713.7_Missense_Mutation_p.D4885N|MACF1_ENST00000361689.2_Missense_Mutation_p.D4885N|MACF1_ENST00000545844.1_Missense_Mutation_p.D4885N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6843					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTGCCACCCCGATTGCATCAC	0.498																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(20830-20832)Gat>Aat		microtubule-actin crosslinking factor 1							248.0	233.0	238.0					1																	39919466		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39919466G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.20527G>A	1.37:g.39919466G>A	ENSP00000362006:p.Asp6843Asn					MACF1_ENST00000539005.1_Missense_Mutation_p.D4755N|MACF1_ENST00000361689.2_Missense_Mutation_p.D4885N|MACF1_ENST00000289893.4_Missense_Mutation_p.D5387N|MACF1_ENST00000317713.7_Missense_Mutation_p.D4885N|MACF1_ENST00000545844.1_Missense_Mutation_p.D4885N|MACF1_ENST00000372915.3_Missense_Mutation_p.D6843N|MACF1_ENST00000567887.1_Missense_Mutation_p.D6981N	p.D6944N			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		88	21607	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	6843					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.20830G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.884849|5.884849	0.97068|0.97068	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.50813|.	1.08;1.08;1.08;0.73;1.08;1.08|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.000000|.	0.64402|.	D|.	0.000006|.	D|D	0.83538|0.83538	0.5276|0.5276	M|M	0.85859|0.85859	2.78|2.78	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	D|D	0.84437|0.84437	0.0580|0.0580	10|5	0.72032|.	D|.	0.01|.	.|.	19.8632|19.8632	0.96793|0.96793	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	6843;4885|.	Q9UPN3;F8W8Q1|.	MACF1_HUMAN;.|.	N|Q	4885;6843;4885;4885;4755;5387|3888	ENSP00000439537:D4885N;ENSP00000362006:D6843N;ENSP00000354573:D4885N;ENSP00000313438:D4885N;ENSP00000444364:D4755N;ENSP00000289893:D5387N|.	ENSP00000289893:D5387N|.	D|R	+|+	1|2	0|0	MACF1|MACF1	39692053|39692053	1.000000|1.000000	0.71417|0.71417	0.554000|0.554000	0.28268|0.28268	0.982000|0.982000	0.71751|0.71751	9.869000|9.869000	0.99810|0.99810	2.704000|2.704000	0.92352|0.92352	0.561000|0.561000	0.74099|0.74099	GAT|CGA		0.498	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		93	194	0	0	0	1	0	93	194				
ABCA2	20	broad.mit.edu	37	9	139910184	139910184	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr9:139910184C>G	ENST00000371605.3	-	22	3601	c.3454G>C	c.(3454-3456)Ggc>Cgc	p.G1152R	ABCA2_ENST00000265662.5_Missense_Mutation_p.G1153R|ABCA2_ENST00000492260.1_5'Flank|ABCA2_ENST00000341511.6_Missense_Mutation_p.G1153R			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1152	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGGTCCACGCCCGCCGTGGGC	0.692																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(3457-3459)Ggc>Cgc		ATP-binding cassette, sub-family A (ABC1), member 2							20.0	25.0	23.0					9																	139910184		2114	4226	6340	SO:0001583	missense	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139910184C>G	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.3454G>C	9.37:g.139910184C>G	ENSP00000360666:p.Gly1152Arg					ABCA2_ENST00000341511.6_Missense_Mutation_p.G1153R|ABCA2_ENST00000371605.3_Missense_Mutation_p.G1152R	p.G1153R			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	23	3604	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	1152			ABC transporter 1.		A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.3457G>C		.	.	.	.	.	.	.	.	.	.	C	18.99	3.740364	0.69304	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.98264	-4.83;-4.83;-4.83	4.2	4.2	0.49525	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	U	0.000000	D	0.99378	0.9781	H	0.97783	4.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98300	1.0518	10	0.87932	D	0	.	16.5127	0.84290	0.0:1.0:0.0:0.0	.	1152;1183	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	R	1153;1152;1183;1153	ENSP00000265662:G1153R;ENSP00000360666:G1152R;ENSP00000344155:G1153R	ENSP00000265662:G1153R	G	-	1	0	ABCA2	139030005	1.000000	0.71417	0.174000	0.22961	0.450000	0.32258	7.632000	0.83247	1.880000	0.54463	0.313000	0.20887	GGC		0.692	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		5	33	0	0	0	1	0	5	33				
KCTD1	284252	broad.mit.edu	37	18	24081165	24081165	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr18:24081165G>C	ENST00000408011.3	-	2	594	c.35C>G	c.(34-36)tCt>tGt	p.S12C	KCTD1_ENST00000317932.7_Missense_Mutation_p.S12C|KCTD1_ENST00000580059.1_Missense_Mutation_p.S12C|KCTD1_ENST00000417602.1_Missense_Mutation_p.S620C|KCTD1_ENST00000579973.1_Missense_Mutation_p.S12C	NM_001136205.2	NP_001129677.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	12					negative regulation of transcription, DNA-templated (GO:0045892)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			GTTCAGTGGAGATGCAGGGGA	0.478																																						ENST00000417602.1																			0				endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12						c.(1858-1860)tCt>tGt		potassium channel tetramerization domain containing 1							267.0	236.0	246.0					18																	24081165		2203	4300	6503	SO:0001583	missense	284252				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity	g.chr18:24081165G>C	AF542549	CCDS11888.1	18q11.2	2013-09-20	2013-06-20		ENSG00000134504	ENSG00000134504			18249	protein-coding gene	gene with protein product		613420	"""potassium channel tetramerisation domain containing 1"""	C18orf5			Standard	NM_001142730		Approved		uc010xbj.3	Q719H9	OTTHUMG00000131947	ENST00000408011.3:c.35C>G	18.37:g.24081165G>C	ENSP00000384367:p.Ser12Cys					KCTD1_ENST00000317932.7_Missense_Mutation_p.S12C|KCTD1_ENST00000579973.1_Missense_Mutation_p.S12C|KCTD1_ENST00000408011.3_Missense_Mutation_p.S12C|KCTD1_ENST00000580059.1_Missense_Mutation_p.S12C	p.S620C	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)		2	1858	-	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		12					A8K1F5	Missense_Mutation	SNP	ENST00000408011.3	37	c.1859C>G	CCDS11888.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183315	0.78677	.	.	ENSG00000134504	ENST00000317932;ENST00000417602;ENST00000408011	T;T;T	0.79749	-0.97;-1.3;-0.97	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.84234	0.5427	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	D	0.85440	0.1154	10	0.56958	D	0.05	.	19.7951	0.96477	0.0:0.0:1.0:0.0	.	12	Q719H9	KCTD1_HUMAN	C	12;620;12	ENSP00000314831:S12C;ENSP00000408405:S620C;ENSP00000384367:S12C	ENSP00000314831:S12C	S	-	2	0	KCTD1	22335163	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.463000	0.80869	2.698000	0.92095	0.561000	0.74099	TCT		0.478	KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000446265.1	XM_209091		6	114	0	0	0	1	0	6	114				
TFAP2E	339488	broad.mit.edu	37	1	36060202	36060202	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:36060202G>C	ENST00000373235.3	+	7	1462	c.1254G>C	c.(1252-1254)aaG>aaC	p.K418N		NM_178548.3	NP_848643.2			transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)											endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				GGCTGGACAAGATGTTTCTAA	0.542																																						ENST00000373235.3																			0				endometrium(1)|large_intestine(1)	2						c.(1252-1254)aaG>aaC		transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)							119.0	110.0	113.0					1																	36060202		2203	4300	6503	SO:0001583	missense	339488					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:36060202G>C	BC041175	CCDS393.2	1p34.3	2008-02-05			ENSG00000116819	ENSG00000116819			30774	protein-coding gene	gene with protein product		614428				14636996	Standard	NM_178548		Approved	AP2E	uc010ohy.2	Q6VUC0	OTTHUMG00000004388	ENST00000373235.3:c.1254G>C	1.37:g.36060202G>C	ENSP00000362332:p.Lys418Asn						p.K418N	NM_178548.3	NP_848643.2	Q6VUC0	AP2E_HUMAN			7	1462	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)	418						Missense_Mutation	SNP	ENST00000373235.3	37	c.1254G>C	CCDS393.2	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679793	0.68042	.	.	ENSG00000116819	ENST00000373235	D	0.97924	-4.61	5.38	4.36	0.52297	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98264	0.9425	M	0.85630	2.765	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	D	0.98134	1.0432	10	0.87932	D	0	-16.3375	6.399	0.21628	0.215:0.0:0.785:0.0	.	418	Q6VUC0	AP2E_HUMAN	N	418	ENSP00000362332:K418N	ENSP00000362332:K418N	K	+	3	2	TFAP2E	35832789	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.215000	0.42862	2.512000	0.84698	0.561000	0.74099	AAG		0.542	TFAP2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012732.1	NM_178548		16	128	0	0	0	1	0	16	128				
DCLRE1A	9937	broad.mit.edu	37	10	115608914	115608914	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:115608914C>G	ENST00000361384.2	-	2	2867	c.1950G>C	c.(1948-1950)caG>caC	p.Q650H	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.Q650H	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	650					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		CTGATCTCTTCTGACACGCTC	0.413								Other identified genes with known or suspected DNA repair function																														ENST00000361384.2																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(1948-1950)caG>caC	Other identified genes with known or suspected DNA repair function	DNA cross-link repair 1A							222.0	225.0	224.0					10																	115608914		2203	4300	6503	SO:0001583	missense	9937				cell division|mitosis	nucleus	hydrolase activity	g.chr10:115608914C>G		CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.1950G>C	10.37:g.115608914C>G	ENSP00000355185:p.Gln650His					DCLRE1A_ENST00000369305.1_Missense_Mutation_p.Q650H	p.Q650H	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN		Epithelial(162;0.0157)|all cancers(201;0.0171)	2	2867	-			650					D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Missense_Mutation	SNP	ENST00000361384.2	37	c.1950G>C	CCDS7584.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.864179	0.51482	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	T;T	0.65178	-0.14;-0.14	5.04	4.12	0.48240	.	1.230860	0.05626	N	0.580771	T	0.66247	0.2770	M	0.67953	2.075	0.09310	N	1	P	0.50943	0.94	B	0.43916	0.436	T	0.58618	-0.7605	10	0.59425	D	0.04	0.441	11.5253	0.50576	0.0:0.917:0.0:0.083	.	650	Q6PJP8	DCR1A_HUMAN	H	650	ENSP00000355185:Q650H;ENSP00000358311:Q650H	ENSP00000355185:Q650H	Q	-	3	2	DCLRE1A	115598904	0.216000	0.23585	0.122000	0.21767	0.019000	0.09904	1.033000	0.30191	2.473000	0.83533	0.655000	0.94253	CAG		0.413	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1	NM_014881		20	124	0	0	0	1	0	20	124				
HEPH	9843	broad.mit.edu	37	X	65483502	65483502	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:65483502C>T	ENST00000343002.2	+	19	3880	c.3216C>T	c.(3214-3216)ctC>ctT	p.L1072L	HEPH_ENST00000519389.1_Silent_p.L1126L|HEPH_ENST00000419594.1_Silent_p.L883L|HEPH_ENST00000336279.5_Silent_p.L805L|HEPH_ENST00000441993.2_Silent_p.L1075L|HEPH_ENST00000374727.3_Silent_p.L1075L			Q9BQS7	HEPH_HUMAN	hephaestin	1072	Plastocyanin-like 6.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TAAGCCCTCTCACCGTCATCA	0.443																																						ENST00000519389.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(3376-3378)ctC>ctT		hephaestin							195.0	139.0	158.0					X																	65483502		2203	4300	6503	SO:0001819	synonymous_variant	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65483502C>T	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.3216C>T	X.37:g.65483502C>T						HEPH_ENST00000441993.2_Silent_p.L1075L|HEPH_ENST00000343002.2_Silent_p.L1072L|HEPH_ENST00000336279.5_Silent_p.L805L|HEPH_ENST00000419594.1_Silent_p.L883L|HEPH_ENST00000374727.3_Silent_p.L1075L	p.L1126L			Q9BQS7	HEPH_HUMAN			20	3557	+			1072					B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Silent	SNP	ENST00000343002.2	37	c.3378C>T																																																																																					0.443	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		6	62	0	0	0	1	0	6	62				
SPG11	80208	broad.mit.edu	37	15	44876090	44876090	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:44876090C>T	ENST00000261866.7	-	30	5804	c.5788G>A	c.(5788-5790)Gag>Aag	p.E1930K	SPG11_ENST00000535302.2_Missense_Mutation_p.E1930K|SPG11_ENST00000558319.1_Missense_Mutation_p.E1930K|SPG11_ENST00000427534.2_Missense_Mutation_p.E1930K|SPG11_ENST00000558253.1_5'Flank	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1930					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GCATGGATCTCTGGGTGCAGA	0.498																																						ENST00000261866.7																			0				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72						c.(5788-5790)Gag>Aag		spastic paraplegia 11 (autosomal recessive)							99.0	92.0	94.0					15																	44876090		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44876090C>T		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.5788G>A	15.37:g.44876090C>T	ENSP00000261866:p.Glu1930Lys					SPG11_ENST00000427534.2_Missense_Mutation_p.E1930K|SPG11_ENST00000558319.1_Missense_Mutation_p.E1930K|SPG11_ENST00000535302.2_Missense_Mutation_p.E1930K	p.E1930K	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	30	5804	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	1930					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.5788G>A	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.943642	0.92593	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.77877	-1.13;-1.07;-0.88	5.62	4.65	0.58169	.	0.282965	0.33144	N	0.005222	D	0.84938	0.5583	M	0.69823	2.125	0.80722	D	1	P;D;P;P	0.63880	0.921;0.993;0.921;0.921	B;P;B;B	0.58520	0.419;0.84;0.419;0.419	D	0.86716	0.1939	10	0.72032	D	0.01	.	16.0119	0.80409	0.0:0.8656:0.1343:0.0	.	1930;1930;1930;1930	C4B7M2;F5H3N6;C4B7M4;Q96JI7	.;.;.;SPTCS_HUMAN	K	1930	ENSP00000261866:E1930K;ENSP00000445278:E1930K;ENSP00000396110:E1930K	ENSP00000261866:E1930K	E	-	1	0	SPG11	42663382	0.997000	0.39634	0.990000	0.47175	0.890000	0.51754	4.476000	0.60216	2.656000	0.90262	0.563000	0.77884	GAG		0.498	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			27	70	0	0	0	1	0	27	70				
SH2B3	10019	broad.mit.edu	37	12	111886103	111886103	+	Silent	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:111886103C>A	ENST00000341259.2	+	8	2082	c.1725C>A	c.(1723-1725)ctC>ctA	p.L575L	SH2B3_ENST00000538307.1_Silent_p.L373L	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	575					blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic hemopoiesis (GO:0035162)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)	phosphate ion binding (GO:0042301)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10					Pazopanib(DB06589)	ACACACCTCTCTGACCAGTGA	0.532																																						ENST00000341259.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10						c.(1723-1725)ctC>ctA		SH2B adaptor protein 3							69.0	82.0	78.0					12																	111886103		2203	4300	6503	SO:0001819	synonymous_variant	10019				blood coagulation	cytosol	signal transducer activity	g.chr12:111886103C>A	AF055581	CCDS9153.1	12q24.12	2014-09-17				ENSG00000111252		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	29605	protein-coding gene	gene with protein product	"""lymphocyte adaptor protein"""	605093				10799879	Standard	NM_005475		Approved	LNK, IDDM20	uc001tse.3	Q9UQQ2		ENST00000341259.2:c.1725C>A	12.37:g.111886103C>A						SH2B3_ENST00000538307.1_Silent_p.L373L	p.L575L	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN			8	2082	+			575					B9EGG5|O95184	Silent	SNP	ENST00000341259.2	37	c.1725C>A	CCDS9153.1																																																																																				0.532	SH2B3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404779.1	NM_005475		4	30	1	0	0.150653	1	0.151001	4	30				
GNAI3	2773	broad.mit.edu	37	1	110121874	110121874	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:110121874G>A	ENST00000369851.4	+	4	462	c.352G>A	c.(352-354)Gtc>Atc	p.V118I		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	118					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|negative regulation of adenylate cyclase activity (GO:0007194)|platelet activation (GO:0030168)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle fusion (GO:0006906)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|plasma membrane (GO:0005886)|zymogen granule (GO:0042588)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		TGAAGAAGGAGTCATGACTCC	0.443																																						ENST00000369851.4																			0				NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(352-354)Gtc>Atc		guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3							156.0	143.0	147.0					1																	110121874		2203	4300	6503	SO:0001583	missense	2773				cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	g.chr1:110121874G>A	M27543	CCDS802.1	1p13	2012-10-02			ENSG00000065135	ENSG00000065135			4387	protein-coding gene	gene with protein product		139370				3109953	Standard	NM_006496		Approved	87U6	uc001dxz.3	P08754	OTTHUMG00000011648	ENST00000369851.4:c.352G>A	1.37:g.110121874G>A	ENSP00000358867:p.Val118Ile						p.V118I	NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)	4	462	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	118					P17539|Q5TZX1	Missense_Mutation	SNP	ENST00000369851.4	37	c.352G>A	CCDS802.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784216	0.31593	.	.	ENSG00000065135	ENST00000369851	D	0.87729	-2.29	5.62	2.69	0.31865	G protein alpha subunit, helical insertion (2);	0.173421	0.50627	D	0.000112	T	0.53916	0.1826	N	0.11131	0.1	0.38283	D	0.942499	B	0.02656	0.0	B	0.01281	0.0	T	0.38436	-0.9661	10	0.20046	T	0.44	.	7.4802	0.27400	0.2069:0.1211:0.672:0.0	.	118	P08754	GNAI3_HUMAN	I	118	ENSP00000358867:V118I	ENSP00000358867:V118I	V	+	1	0	GNAI3	109923397	0.989000	0.36119	0.999000	0.59377	0.996000	0.88848	1.182000	0.32029	0.308000	0.22923	0.591000	0.81541	GTC		0.443	GNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032222.1	NM_006496		8	87	0	0	0	1	0	8	87				
ASUN	55726	broad.mit.edu	37	12	27066540	27066540	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:27066540C>T	ENST00000261191.7	-	14	2191	c.1655G>A	c.(1654-1656)aGa>aAa	p.R552K	ASUN_ENST00000539625.1_Missense_Mutation_p.R451K	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	552					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											TTCCAAGACTCTTTGATGTTT	0.433																																						ENST00000261191.7																			0											c.(1654-1656)aGa>aAa		asunder spermatogenesis regulator							315.0	308.0	310.0					12																	27066540		2203	4300	6503	SO:0001583	missense	55726				cell division|mitosis|regulation of mitotic cell cycle		protein binding	g.chr12:27066540C>T	AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"""spermatogenesis associated 30"""	615079	"""chromosome 12 open reading frame 11"", ""asunder, spermatogenesis regulator homolog (Drosphila)"""	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.1655G>A	12.37:g.27066540C>T	ENSP00000261191:p.Arg552Lys					ASUN_ENST00000539625.1_Missense_Mutation_p.R451K	p.R552K	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN			14	2191	-			552					B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Missense_Mutation	SNP	ENST00000261191.7	37	c.1655G>A	CCDS8708.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.907643	0.33721	.	.	ENSG00000064102	ENST00000538155;ENST00000261191;ENST00000539625;ENST00000335745;ENST00000261190	T;T;T	0.42131	0.98;0.98;0.98	4.92	4.92	0.64577	.	0.055575	0.64402	D	0.000001	T	0.34774	0.0909	L	0.39633	1.23	0.58432	D	0.999993	B;B	0.17465	0.022;0.01	B;B	0.16289	0.015;0.015	T	0.11792	-1.0573	10	0.13853	T	0.58	-22.5936	17.187	0.86869	0.0:1.0:0.0:0.0	.	552;451	Q9NVM9;B4DNK1	M89BB_HUMAN;.	K	199;552;451;139;49	ENSP00000445645:R199K;ENSP00000261191:R552K;ENSP00000443724:R451K	ENSP00000261190:R49K	R	-	2	0	C12orf11	26957807	0.999000	0.42202	0.938000	0.37757	0.750000	0.42670	3.738000	0.55067	2.636000	0.89361	0.591000	0.81541	AGA		0.433	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1	NM_018164		18	251	0	0	0	1	0	18	251				
ACACA	31	broad.mit.edu	37	17	35640260	35640260	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:35640260G>C	ENST00000394406.2	-	5	597	c.407C>G	c.(406-408)tCt>tGt	p.S136C	ACACA_ENST00000335166.5_Missense_Mutation_p.S58C|ACACA_ENST00000360679.3_Missense_Mutation_p.S78C|ACACA_ENST00000353139.5_Missense_Mutation_p.S173C	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	136	Biotin carboxylation.				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)	CCTACGGATAGACCGCATGCA	0.438																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				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						c.(517-519)tCt>tGt		acetyl-CoA carboxylase alpha	Biotin(DB00121)						132.0	107.0	116.0					17																	35640260		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.chr17:35640260G>C	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.407C>G	17.37:g.35640260G>C	ENSP00000377928:p.Ser136Cys					ACACA_ENST00000394406.2_Missense_Mutation_p.S136C|ACACA_ENST00000360679.3_Missense_Mutation_p.S78C|ACACA_ENST00000335166.5_Missense_Mutation_p.S58C	p.S173C	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			5	999	-		Breast(25;0.00157)|Ovarian(249;0.15)	136			Biotin carboxylation.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.518C>G	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	G	33	5.243596	0.95272	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000456066	T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9	5.84	5.84	0.93424	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Biotin carboxylation domain (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91092	0.7196	H	0.95712	3.71	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	0.92918	0.6353	10	0.87932	D	0	-16.2366	20.1535	0.98095	0.0:0.0:1.0:0.0	.	173;136;78	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	C	173;78;136;160;58;58	ENSP00000344789:S173C;ENSP00000353898:S78C;ENSP00000377928:S136C;ENSP00000335323:S58C	ENSP00000335323:S58C	S	-	2	0	ACACA	32714373	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	9.813000	0.99286	2.764000	0.94973	0.650000	0.86243	TCT		0.438	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		7	57	0	0	0	1	0	7	57				
ATP8B3	148229	broad.mit.edu	37	19	1796753	1796753	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:1796753G>C	ENST00000310127.6	-	16	1948	c.1710C>G	c.(1708-1710)atC>atG	p.I570M	ATP8B3_ENST00000539485.1_Missense_Mutation_p.I570M|ATP8B3_ENST00000525591.1_Missense_Mutation_p.I523M	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	570					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGTGTGGCAGATGGCCAGCA	0.716																																						ENST00000539485.1																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(1708-1710)atC>atG		ATPase, aminophospholipid transporter, class I, type 8B, member 3							29.0	35.0	33.0					19																	1796753		2090	4179	6269	SO:0001583	missense	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1796753G>C	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.1710C>G	19.37:g.1796753G>C	ENSP00000311336:p.Ile570Met					ATP8B3_ENST00000525591.1_Missense_Mutation_p.I523M|ATP8B3_ENST00000310127.6_Missense_Mutation_p.I570M	p.I570M			O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	16	1943	-		Hepatocellular(1079;0.137)	570					Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	c.1710C>G	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.679503	0.47886	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	T;T;T	0.64438	-0.1;-0.1;-0.1	3.63	1.36	0.22044	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.228496	0.37053	N	0.002269	T	0.71937	0.3399	M	0.86097	2.795	0.26431	N	0.975945	D;P	0.54772	0.968;0.934	P;P	0.58331	0.837;0.787	T	0.62358	-0.6871	10	0.72032	D	0.01	.	5.1199	0.14854	0.2014:0.1698:0.6287:0.0	.	570;523	O60423;Q7Z485	AT8B3_HUMAN;.	M	570;570;523	ENSP00000311336:I570M;ENSP00000443574:I570M;ENSP00000437115:I523M	ENSP00000311336:I570M	I	-	3	3	ATP8B3	1747753	0.989000	0.36119	1.000000	0.80357	0.791000	0.44710	0.119000	0.15626	0.748000	0.32831	0.561000	0.74099	ATC		0.716	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		7	32	0	0	0	1	0	7	32				
SEC23B	10483	broad.mit.edu	37	20	18534978	18534978	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:18534978C>G	ENST00000336714.3	+	18	2524	c.2092C>G	c.(2092-2094)Ctg>Gtg	p.L698V	SEC23B_ENST00000262544.2_Missense_Mutation_p.L698V|SEC23B_ENST00000377475.3_Missense_Mutation_p.L698V|SEC23B_ENST00000377465.1_Missense_Mutation_p.L698V	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	698					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						TCAAGAAATTCTGCAAGCACG	0.512																																						ENST00000336714.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						c.(2092-2094)Ctg>Gtg		Sec23 homolog B (S. cerevisiae)							167.0	136.0	146.0					20																	18534978		2203	4300	6503	SO:0001583	missense	10483				ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding	g.chr20:18534978C>G	X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"""Sec23 (S. cerevisiae) homolog B"", ""congenital dyserythropoietic anemia, type II"""	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.2092C>G	20.37:g.18534978C>G	ENSP00000338844:p.Leu698Val					SEC23B_ENST00000377475.3_Missense_Mutation_p.L698V|SEC23B_ENST00000377465.1_Missense_Mutation_p.L698V|SEC23B_ENST00000262544.2_Missense_Mutation_p.L698V	p.L698V	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN			18	2524	+			698					D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Missense_Mutation	SNP	ENST00000336714.3	37	c.2092C>G	CCDS13137.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211941	0.58452	.	.	ENSG00000101310	ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465;ENST00000422877	T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55	4.69	3.74	0.42951	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	T	0.61311	0.2337	M	0.68728	2.09	0.80722	D	1	P;P	0.51240	0.943;0.859	P;P	0.59221	0.854;0.781	T	0.61652	-0.7019	10	0.51188	T	0.08	-13.5299	6.0167	0.19607	0.0:0.7038:0.0:0.2962	.	680;698	B4DJW8;Q15437	.;SC23B_HUMAN	V	698;698;698;698;177	ENSP00000338844:L698V;ENSP00000262544:L698V;ENSP00000366695:L698V;ENSP00000366685:L698V;ENSP00000409882:L177V	ENSP00000262544:L698V	L	+	1	2	SEC23B	18482978	0.984000	0.35163	1.000000	0.80357	0.979000	0.70002	0.585000	0.23879	1.322000	0.45245	0.655000	0.94253	CTG		0.512	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5			4	97	0	0	0	1	0	4	97				
ZNF227	7770	broad.mit.edu	37	19	44740795	44740795	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:44740795C>T	ENST00000313040.7	+	6	2417	c.2212C>T	c.(2212-2214)Cac>Tac	p.H738Y	ZNF227_ENST00000589005.1_Missense_Mutation_p.H687Y|ZNF235_ENST00000589799.1_3'UTR|ZNF227_ENST00000391961.2_Missense_Mutation_p.H687Y	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	738					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				CCTGGGTGTTCACACCAGGGA	0.498																																						ENST00000313040.7																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24						c.(2212-2214)Cac>Tac		zinc finger protein 227							84.0	87.0	86.0					19																	44740795		2203	4300	6503	SO:0001583	missense	7770				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44740795C>T	AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.2212C>T	19.37:g.44740795C>T	ENSP00000321049:p.His738Tyr					ZNF235_ENST00000589799.1_3'UTR|ZNF227_ENST00000391961.2_Missense_Mutation_p.H687Y|ZNF227_ENST00000589005.1_Missense_Mutation_p.H687Y	p.H738Y	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN			6	2417	+		Prostate(69;0.0435)	738					B3KRU7|B7Z5P9	Missense_Mutation	SNP	ENST00000313040.7	37	c.2212C>T	CCDS12636.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561851	0.65538	.	.	ENSG00000131115	ENST00000313040;ENST00000328297;ENST00000391961;ENST00000418980;ENST00000377916	T;T	0.67523	-0.27;-0.27	3.92	3.92	0.45320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.86502	0.5948	H	0.95574	3.69	0.80722	D	1	D;D;D;D	0.76494	0.999;0.97;0.996;0.999	D;D;D;D	0.87578	0.998;0.97;0.991;0.998	D	0.90888	0.4759	9	0.87932	D	0	.	15.236	0.73432	0.0:1.0:0.0:0.0	.	659;717;690;738	B7Z6M2;Q658S5;Q9NS43;Q86WZ6	.;.;.;ZN227_HUMAN	Y	738;695;687;717;377	ENSP00000321049:H738Y;ENSP00000375823:H687Y	ENSP00000321049:H738Y	H	+	1	0	ZNF227	49432635	1.000000	0.71417	0.081000	0.20488	0.983000	0.72400	7.158000	0.77470	2.191000	0.70037	0.563000	0.77884	CAC		0.498	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460720.1	NM_182490		5	96	0	0	0	1	0	5	96				
C5orf38	153571	broad.mit.edu	37	5	2755234	2755234	+	3'UTR	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:2755234G>C	ENST00000334000.3	+	0	613				IRX2_ENST00000502957.1_5'Flank|C5orf38_ENST00000397835.4_Missense_Mutation_p.G142A	NM_178569.2	NP_848664.1	Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38							extracellular region (GO:0005576)				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		GCCGGCCCCGGAGGCTCGGGC	0.701																																						ENST00000397835.4																			0				endometrium(2)|large_intestine(1)|lung(1)	4						c.(424-426)gGa>gCa		chromosome 5 open reading frame 38							15.0	16.0	16.0					5																	2755234		692	1591	2283	SO:0001624	3_prime_UTR_variant	153571					extracellular region		g.chr5:2755234G>C	AY249324	CCDS34131.1	5p15.33	2014-06-02			ENSG00000186493	ENSG00000186493			24226	protein-coding gene	gene with protein product	"""coordinated expression to IRX2"", ""IRX2 neighbor"""	610522				16515847, 16750006	Standard	XM_005248256		Approved	CEI, IRX2NB	uc003jdc.3	Q86SI9	OTTHUMG00000161741	ENST00000334000.3:c.*79G>C	5.37:g.2755234G>C						C5orf38_ENST00000334000.3_3'UTR	p.G142A			Q86SI9	CEI_HUMAN		GBM - Glioblastoma multiforme(108;0.205)	3	425	+			0						Missense_Mutation	SNP	ENST00000334000.3	37	c.425G>C	CCDS34131.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.831391	0.32329	.	.	ENSG00000186493	ENST00000397835	.	.	.	2.05	-4.1	0.03940	.	.	.	.	.	T	0.16896	0.0406	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23226	-1.0194	4	.	.	.	.	0.3859	0.00402	0.3885:0.1904:0.2299:0.1911	.	.	.	.	A	142	.	.	G	+	2	0	C5orf38	2808234	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.004000	0.01461	-1.266000	0.02446	0.462000	0.41574	GGA		0.701	C5orf38-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365956.2	NM_178569		7	63	0	0	0	1	0	7	63				
TRA2A	29896	broad.mit.edu	37	7	23561449	23561449	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:23561449G>C	ENST00000297071.4	-	2	263	c.47C>G	c.(46-48)tCt>tGt	p.S16C	TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000538367.1_5'UTR|TRA2A_ENST00000392502.4_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	16					mRNA splicing, via spliceosome (GO:0000398)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						TTTTGACTGAGAGCGAGACTC	0.418																																					Pancreas(121;2137 2973 46590)	ENST00000297071.4																			0				endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						c.(46-48)tCt>tGt		transformer 2 alpha homolog (Drosophila)							78.0	72.0	74.0					7																	23561449		2203	4300	6503	SO:0001583	missense	29896				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding	g.chr7:23561449G>C	U53209	CCDS5383.1, CCDS64609.1, CCDS75569.1	7p15.3	2014-02-12			ENSG00000164548	ENSG00000164548		"""RNA binding motif (RRM) containing"""	16645	protein-coding gene	gene with protein product		602718				8799144, 9546399	Standard	XM_005249725		Approved	htra-2-alpha, tra2a, AWMS1	uc003swi.3	Q13595	OTTHUMG00000128459	ENST00000297071.4:c.47C>G	7.37:g.23561449G>C	ENSP00000297071:p.Ser16Cys					TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000538367.1_5'UTR|TRA2A_ENST00000392502.4_5'UTR	p.S16C	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN			2	263	-			16					B4DUA9	Missense_Mutation	SNP	ENST00000297071.4	37	c.47C>G	CCDS5383.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070465	0.76301	.	.	ENSG00000164548	ENST00000297071	T	0.38401	1.14	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.59622	0.2207	L	0.61218	1.895	0.80722	D	1	D	0.69078	0.997	D	0.70935	0.971	T	0.57329	-0.7830	10	0.52906	T	0.07	-7.4374	19.9068	0.97010	0.0:0.0:1.0:0.0	.	16	Q13595	TRA2A_HUMAN	C	16	ENSP00000297071:S16C	ENSP00000297071:S16C	S	-	2	0	TRA2A	23527974	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.497000	0.97970	2.718000	0.92993	0.585000	0.79938	TCT		0.418	TRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250257.1	NM_013293		4	50	0	0	0	1	0	4	50				
ITSN2	50618	broad.mit.edu	37	2	24484527	24484527	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:24484527C>G	ENST00000355123.4	-	21	2883	c.2440G>C	c.(2440-2442)Gaa>Caa	p.E814Q	ITSN2_ENST00000361999.3_Missense_Mutation_p.E787Q|ITSN2_ENST00000406921.3_Missense_Mutation_p.E814Q	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	814	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCATTTTTTCTACATAATTG	0.378																																						ENST00000355123.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.(2440-2442)Gaa>Caa		intersectin 2							110.0	112.0	111.0					2																	24484527		2203	4300	6503	SO:0001583	missense	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24484527C>G	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.2440G>C	2.37:g.24484527C>G	ENSP00000347244:p.Glu814Gln					ITSN2_ENST00000406921.3_Missense_Mutation_p.E814Q|ITSN2_ENST00000361999.3_Missense_Mutation_p.E787Q	p.E814Q	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN			21	2883	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		814			SH3 1.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	c.2440G>C	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764381	0.69878	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000406921	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	4.96	4.96	0.65561	Src homology-3 domain (3);	0.000000	0.38164	U	0.001800	T	0.57621	0.2066	L	0.56280	1.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.997;0.994	T	0.60737	-0.7204	10	0.87932	D	0	.	18.5759	0.91154	0.0:1.0:0.0:0.0	.	814;787;814	Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;ITSN2_HUMAN	Q	787;814;787;814	ENSP00000354561:E787Q;ENSP00000347244:E814Q;ENSP00000370250:E787Q;ENSP00000384499:E814Q	ENSP00000347244:E814Q	E	-	1	0	ITSN2	24338031	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.346000	0.79347	2.494000	0.84150	0.561000	0.74099	GAA		0.378	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		6	37	0	0	0	1	0	6	37				
RIN2	54453	broad.mit.edu	37	20	19956199	19956199	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:19956199G>A	ENST00000255006.6	+	8	1826	c.1677G>A	c.(1675-1677)ccG>ccA	p.P559P	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Intron	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	510					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						TCATGACCCCGGAGAAGCGGA	0.572																																						ENST00000255006.6																			0				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						c.(1675-1677)ccG>ccA		Ras and Rab interactor 2							88.0	95.0	92.0					20																	19956199		2007	4173	6180	SO:0001819	synonymous_variant	54453				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr20:19956199G>A	AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.1677G>A	20.37:g.19956199G>A						RIN2_ENST00000440354.2_Intron|RIN2_ENST00000484638.1_3'UTR	p.P559P	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN			8	1826	+			510					Q00425|Q5TFT8|Q9BQL3|Q9H071	Silent	SNP	ENST00000255006.6	37	c.1677G>A	CCDS56182.1																																																																																				0.572	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1			16	136	0	0	0	1	0	16	136				
IRS1	3667	broad.mit.edu	37	2	227662588	227662588	+	Silent	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:227662588G>C	ENST00000305123.5	-	1	1887	c.867C>G	c.(865-867)ctC>ctG	p.L289L	RP11-395N3.2_ENST00000607970.1_lincRNA|IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	289	Ser-rich.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGGGATTGTTGAGATGGTGCC	0.672											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(865-867)ctC>ctG		insulin receptor substrate 1							51.0	59.0	56.0					2																	227662588		2203	4300	6503	SO:0001819	synonymous_variant	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227662588G>C		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.867C>G	2.37:g.227662588G>C			OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321		p.L289L	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	1887	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	289			Ser-rich.			Silent	SNP	ENST00000305123.5	37	c.867C>G	CCDS2463.1																																																																																				0.672	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		7	108	0	0	0	1	0	7	108				
TRHDE	29953	broad.mit.edu	37	12	72969145	72969145	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:72969145G>C	ENST00000261180.4	+	11	2203	c.2107G>C	c.(2107-2109)Gat>Cat	p.D703H	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	703					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ATTATTAATTGATCAATTAAT	0.343																																						ENST00000261180.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(2107-2109)Gat>Cat		thyrotropin-releasing hormone degrading enzyme							98.0	97.0	97.0					12																	72969145		2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72969145G>C	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2107G>C	12.37:g.72969145G>C	ENSP00000261180:p.Asp703His					TRHDE_ENST00000549138.1_3'UTR	p.D703H	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			11	2203	+			703					A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.2107G>C	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.915490	0.52546	.	.	ENSG00000072657	ENST00000261180	T	0.29142	1.58	5.53	4.63	0.57726	.	0.414302	0.29900	N	0.010911	T	0.30479	0.0766	L	0.28504	0.86	0.41438	D	0.987906	P	0.49696	0.927	P	0.49597	0.616	T	0.02358	-1.1171	10	0.59425	D	0.04	.	11.4685	0.50254	0.1346:0.0:0.8654:0.0	.	703	Q9UKU6	TRHDE_HUMAN	H	703	ENSP00000261180:D703H	ENSP00000261180:D703H	D	+	1	0	TRHDE	71255412	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	2.237000	0.43061	2.763000	0.94921	0.563000	0.77884	GAT		0.343	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		10	46	0	0	0	1	0	10	46				
SLC8A3	6547	broad.mit.edu	37	14	70633450	70633450	+	Missense_Mutation	SNP	C	C	T	rs76086886		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:70633450C>T	ENST00000381269.2	-	2	2443	c.1690G>A	c.(1690-1692)Gtc>Atc	p.V564I	SLC8A3_ENST00000356921.2_Missense_Mutation_p.V564I|SLC8A3_ENST00000528359.1_Missense_Mutation_p.V564I|SLC8A3_ENST00000357887.3_Missense_Mutation_p.V564I|SLC8A3_ENST00000534137.1_Missense_Mutation_p.V564I	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	564	Calx-beta 2.				blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CTAAAGGGGACGATGACTGTA	0.468													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21296	0.0		0.0	False		,,,				2504	0.0					ENST00000381269.2																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54						c.(1690-1692)Gtc>Atc		solute carrier family 8 (sodium/calcium exchanger), member 3							107.0	104.0	105.0					14																	70633450		2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70633450C>T	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1690G>A	14.37:g.70633450C>T	ENSP00000370669:p.Val564Ile					SLC8A3_ENST00000357887.3_Missense_Mutation_p.V564I|SLC8A3_ENST00000534137.1_Missense_Mutation_p.V564I|SLC8A3_ENST00000528359.1_Missense_Mutation_p.V564I|SLC8A3_ENST00000356921.2_Missense_Mutation_p.V564I	p.V564I	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	2443	-			564			Calx-beta 2.		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.1690G>A	CCDS35498.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	4.661	0.122908	0.08931	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56	5.69	1.17	0.20885	Na-Ca exchanger/integrin-beta4 (2);	0.195354	0.43919	N	0.000512	T	0.39462	0.1079	L	0.39326	1.205	0.58432	D	0.999996	B;B;B;B	0.10296	0.001;0.003;0.0;0.0	B;B;B;B	0.09377	0.002;0.004;0.001;0.001	T	0.16897	-1.0387	10	0.22706	T	0.39	.	11.6098	0.51053	0.0:0.712:0.0:0.288	.	564;564;564;564	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	I	564	ENSP00000349392:V564I;ENSP00000370669:V564I;ENSP00000350560:V564I;ENSP00000436688:V564I;ENSP00000433531:V564I	ENSP00000349392:V564I	V	-	1	0	SLC8A3	69703203	1.000000	0.71417	0.985000	0.45067	0.883000	0.51084	2.194000	0.42668	0.310000	0.22990	-0.128000	0.14901	GTC		0.468	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			9	49	0	0	0	1	0	9	49				
NPC1L1	29881	broad.mit.edu	37	7	44571714	44571714	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:44571714G>C	ENST00000289547.4	-	9	2567	c.2512C>G	c.(2512-2514)Ccc>Gcc	p.P838A	NPC1L1_ENST00000546276.1_Missense_Mutation_p.P838A|NPC1L1_ENST00000381160.3_Missense_Mutation_p.P838A	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	838					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AGCAGGAAGGGGGCATAAGCC	0.642																																						ENST00000289547.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(2512-2514)Ccc>Gcc		NPC1-like 1	Ezetimibe(DB00973)						69.0	65.0	66.0					7																	44571714		2203	4300	6503	SO:0001583	missense	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44571714G>C		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.2512C>G	7.37:g.44571714G>C	ENSP00000289547:p.Pro838Ala					NPC1L1_ENST00000546276.1_Missense_Mutation_p.P838A|NPC1L1_ENST00000381160.3_Missense_Mutation_p.P838A	p.P838A	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			9	2567	-			838					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.2512C>G	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	g	14.02	2.411561	0.42817	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276	D;D;D	0.94931	-3.55;-3.55;-3.56	4.29	4.29	0.51040	.	0.000000	0.85682	U	0.000000	D	0.97583	0.9208	M	0.91561	3.22	0.52501	D	0.99995	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.991;0.991;0.999	D	0.98231	1.0483	10	0.59425	D	0.04	-26.1315	14.215	0.65788	0.0:0.0:1.0:0.0	.	838;838;838	B7ZLE6;Q17RV5;D3DVK9	.;.;.	A	838	ENSP00000289547:P838A;ENSP00000370552:P838A;ENSP00000438033:P838A	ENSP00000289547:P838A	P	-	1	0	NPC1L1	44538239	1.000000	0.71417	0.031000	0.17742	0.090000	0.18270	7.523000	0.81856	1.906000	0.55180	0.313000	0.20887	CCC		0.642	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		25	71	0	0	0	1	0	25	71				
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	40								p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I40T(4)	prostate(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(118-120)aTc>aCc																																						SO:0001583	missense	0							g.chr20:29625875T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.119T>C	20.37:g.29625875T>C	ENSP00000278882:p.Ile40Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T	p.I40T							5	499	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.119T>C		.	.	.	.	.	.	.	.	.	.	t	10.51	1.369778	0.24771	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.51071	0.72	1.68	1.68	0.24146	.	0.052751	0.64402	D	0.000001	T	0.59865	0.2225	.	.	.	0.51482	D	0.999924	P	0.49862	0.929	D	0.64687	0.928	T	0.59386	-0.7464	9	0.52906	T	0.07	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	45	F5H5R5	.	T	40;45;40	ENSP00000408863:I45T	ENSP00000278882:I40T	I	+	2	0	FRG1B	28239536	1.000000	0.71417	0.982000	0.44146	0.025000	0.11179	6.565000	0.73974	1.028000	0.39785	0.155000	0.16302	ATC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	90	0	0	0	1	0	4	90				
SEPT2	4735	broad.mit.edu	37	2	242274603	242274603	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:242274603G>A	ENST00000391973.2	+	4	721	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	SEPT2_ENST00000401990.1_Missense_Mutation_p.E65K|SEPT2_ENST00000391971.2_Missense_Mutation_p.E65K|SEPT2_ENST00000407971.1_Missense_Mutation_p.E25K|SEPT2_ENST00000360051.3_Missense_Mutation_p.E65K|SEPT2_ENST00000402092.2_Missense_Mutation_p.E65K	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	65	Septin-type G.				cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|neuron projection development (GO:0031175)|regulation of L-glutamate transport (GO:0002036)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|synapse (GO:0045202)	enzyme regulator activity (GO:0030234)|GTP binding (GO:0005525)			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		TCTGTACCCAGAAAGAGTCAT	0.348																																						ENST00000391973.2																			0				central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12						c.(193-195)Gaa>Aaa		septin 2							80.0	74.0	76.0					2																	242274603		2203	4300	6503	SO:0001583	missense	4735				cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding	g.chr2:242274603G>A	D28540	CCDS2548.1, CCDS63195.1, CCDS74682.1	2q37.3	2013-01-21	2005-01-11	2005-01-12	ENSG00000168385	ENSG00000168385		"""Septins"""	7729	protein-coding gene	gene with protein product		601506	"""neural precursor cell expressed, developmentally down-regulated 5"""	DIFF6, NEDD5		8697812	Standard	XM_005247011		Approved	KIAA0158, hNedd5, Pnutl3	uc002wbd.3	Q15019	OTTHUMG00000133394	ENST00000391973.2:c.193G>A	2.37:g.242274603G>A	ENSP00000375834:p.Glu65Lys					SEPT2_ENST00000360051.3_Missense_Mutation_p.E65K|SEPT2_ENST00000402092.2_Missense_Mutation_p.E65K|SEPT2_ENST00000391971.2_Missense_Mutation_p.E65K|SEPT2_ENST00000401990.1_Missense_Mutation_p.E65K|SEPT2_ENST00000407971.1_Missense_Mutation_p.E25K	p.E65K	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)	4	721	+		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	65					B4DGE8|Q14132|Q53QU3|Q8IUK9|Q96CB0	Missense_Mutation	SNP	ENST00000391973.2	37	c.193G>A	CCDS2548.1	.	.	.	.	.	.	.	.	.	.	G	36	5.956853	0.97145	.	.	ENSG00000168385	ENST00000391973;ENST00000428282;ENST00000360051;ENST00000445030;ENST00000407017;ENST00000391971;ENST00000401990;ENST00000407971;ENST00000436795;ENST00000411484;ENST00000434955;ENST00000402092;ENST00000441533;ENST00000443492;ENST00000437066;ENST00000391972;ENST00000449239	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;1.33;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;1.33;2.67;0.69;0.69	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.63534	0.2519	L	0.45051	1.395	0.80722	D	1	B;D;D	0.89917	0.289;1.0;0.99	B;D;D	0.87578	0.265;0.998;0.96	T	0.54410	-0.8298	10	0.30078	T	0.28	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	100;25;65	Q15019-2;B5MCX3;Q15019	.;.;SEPT2_HUMAN	K	65;25;65;65;25;65;65;25;65;76;65;65;65;25;65;100;65	ENSP00000375834:E65K;ENSP00000397195:E25K;ENSP00000353157:E65K;ENSP00000404484:E65K;ENSP00000386001:E25K;ENSP00000375832:E65K;ENSP00000385109:E65K;ENSP00000384525:E25K;ENSP00000406181:E65K;ENSP00000394666:E76K;ENSP00000399767:E65K;ENSP00000385172:E65K;ENSP00000413031:E65K;ENSP00000399195:E25K;ENSP00000412434:E65K;ENSP00000391717:E65K	ENSP00000353157:E65K	E	+	1	0	SEPT2	241923276	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.536000	0.98067	2.840000	0.97914	0.655000	0.94253	GAA		0.348	SEPT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323177.3	NM_006155		3	17	0	0	0	1	0	3	17				
UBXN1	51035	broad.mit.edu	37	11	62444465	62444465	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:62444465C>T	ENST00000301935.5	-	8	830	c.664G>A	c.(664-666)Gat>Aat	p.D222N	UBXN1_ENST00000529640.1_Missense_Mutation_p.D218N|UBXN1_ENST00000533000.1_Intron|UBXN1_ENST00000524762.1_5'UTR|UBXN1_ENST00000294119.2_Missense_Mutation_p.D222N			Q04323	UBXN1_HUMAN	UBX domain protein 1	222	Interaction with BRCA1.|UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|K6-linked polyubiquitin binding (GO:0071796)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|lung(12)	17						GAGGTCCCATCTGGCAGCCTG	0.582																																						ENST00000294119.2																			0				endometrium(5)|lung(12)	17						c.(664-666)Gat>Aat		UBX domain protein 1							46.0	48.0	47.0					11																	62444465		2202	4299	6501	SO:0001583	missense	51035				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding	g.chr11:62444465C>T		CCDS8029.1, CCDS66105.1, CCDS73307.1	11q23	2014-02-12	2008-07-25		ENSG00000162191	ENSG00000162191		"""UBX domain containing"""	18402	protein-coding gene	gene with protein product	"""SAPK substrate protein 1"""					12838346, 20351172	Standard	NM_001286078		Approved	LOC51035, 2B28, UBXD10, SAKS1	uc001nuj.3	Q04323	OTTHUMG00000167580	ENST00000301935.5:c.664G>A	11.37:g.62444465C>T	ENSP00000303991:p.Asp222Asn					UBXN1_ENST00000533000.1_Intron|UBXN1_ENST00000529640.1_Missense_Mutation_p.D218N|UBXN1_ENST00000524762.1_5'UTR|UBXN1_ENST00000301935.5_Missense_Mutation_p.D222N	p.D222N	NM_015853.3	NP_056937.2	Q04323	UBXN1_HUMAN			8	795	-			222			Interaction with BRCA1.|UBX.		Q9BV93|Q9BVV5	Missense_Mutation	SNP	ENST00000301935.5	37	c.664G>A		.	.	.	.	.	.	.	.	.	.	C	16.28	3.079631	0.55753	.	.	ENSG00000162191	ENST00000294119;ENST00000301935;ENST00000537534;ENST00000529640;ENST00000534176	T;T;T;T	0.28454	1.61;1.62;1.65;1.62	5.35	5.35	0.76521	UBX (3);	0.000000	0.85682	D	0.000000	T	0.43366	0.1244	L	0.34521	1.04	0.80722	D	1	D;P;P	0.89917	1.0;0.592;0.504	D;B;B	0.91635	0.999;0.326;0.227	T	0.04454	-1.0950	10	0.15066	T	0.55	-17.36	17.3711	0.87377	0.0:1.0:0.0:0.0	.	218;222;222	E9PRQ7;Q04323;Q04323-2	.;UBXN1_HUMAN;.	N	222;222;125;218;222	ENSP00000294119:D222N;ENSP00000303991:D222N;ENSP00000435964:D218N;ENSP00000435625:D222N	ENSP00000294119:D222N	D	-	1	0	UBXN1	62201041	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.341000	0.72977	2.885000	0.99019	0.655000	0.94253	GAT		0.582	UBXN1-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000395153.1	NM_015853		10	84	0	0	0	1	0	10	84				
RAC1	5879	broad.mit.edu	37	7	6431634	6431634	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:6431634G>C	ENST00000348035.4	+	3	400	c.187G>C	c.(187-189)Gat>Cat	p.D63H	RAC1_ENST00000356142.4_Missense_Mutation_p.D63H|RAC1_ENST00000488373.1_3'UTR	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	63			D -> G (in dbSNP:rs5831).		actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|anatomical structure arrangement (GO:0048532)|anatomical structure morphogenesis (GO:0009653)|apoptotic signaling pathway (GO:0097190)|auditory receptor cell morphogenesis (GO:0002093)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell adhesion (GO:0007155)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|cerebral cortex radially oriented cell migration (GO:0021799)|cochlea morphogenesis (GO:0090103)|dendrite morphogenesis (GO:0048813)|dopaminergic neuron differentiation (GO:0071542)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|engulfment of apoptotic cell (GO:0043652)|epithelial cell morphogenesis (GO:0003382)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor signaling pathway (GO:0007186)|hyperosmotic response (GO:0006972)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|mast cell chemotaxis (GO:0002551)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of receptor-mediated endocytosis (GO:0048261)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA replication (GO:0045740)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein localization to plasma membrane (GO:0072659)|regulation of cell migration (GO:0030334)|regulation of defense response to virus by virus (GO:0050690)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|response to wounding (GO:0009611)|ruffle assembly (GO:0097178)|ruffle organization (GO:0031529)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell costimulation (GO:0031295)|viral process (GO:0016032)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GDP-dissociation inhibitor binding (GO:0051022)|thioesterase binding (GO:0031996)			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Dextromethorphan(DB00514)	TGGACAAGAAGATTATGACAG	0.393																																						ENST00000348035.4																			0				cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(187-189)Gat>Cat		ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	Pravastatin(DB00175)|Simvastatin(DB00641)						121.0	118.0	119.0					7																	6431634		2203	4300	6503	SO:0001583	missense	5879				actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	g.chr7:6431634G>C	AJ132695	CCDS5348.1, CCDS5349.1	7p22	2014-01-30			ENSG00000136238	ENSG00000136238		"""Endogenous ligands"""	9801	protein-coding gene	gene with protein product		602048				2674130, 10597294	Standard	NM_006908		Approved	TC-25, p21-Rac1, Rac-1	uc003spw.3	P63000	OTTHUMG00000023540	ENST00000348035.4:c.187G>C	7.37:g.6431634G>C	ENSP00000258737:p.Asp63His					RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.D63H	p.D63H	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	3	400	+		Ovarian(82;0.0776)	63		D -> G (in dbSNP:rs5831).			O95501|P15154|Q3Y4D3|Q5JAA8|Q9BTB4	Missense_Mutation	SNP	ENST00000348035.4	37	c.187G>C	CCDS5348.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.860972	0.91433	.	.	ENSG00000136238	ENST00000348035;ENST00000356142	T;T	0.77489	-1.1;-1.1	5.29	5.29	0.74685	Small GTP-binding protein domain (1);	0.094441	0.64402	D	0.000001	D	0.91808	0.7408	H	0.94582	3.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.93736	0.7046	10	0.87932	D	0	.	19.3003	0.94141	0.0:0.0:1.0:0.0	.	63;63	P63000;A4D2P0	RAC1_HUMAN;.	H	63	ENSP00000258737:D63H;ENSP00000348461:D63H	ENSP00000258737:D63H	D	+	1	0	RAC1	6398159	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.809000	0.99208	2.634000	0.89283	0.650000	0.86243	GAT		0.393	RAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242868.2	NM_018890		38	59	0	0	0	1	0	38	59				
CNKSR2	22866	broad.mit.edu	37	X	21581355	21581355	+	Splice_Site	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:21581355G>C	ENST00000379510.3	+	13	1429		c.e13-1		CNKSR2_ENST00000485012.1_Splice_Site|CNKSR2_ENST00000543067.1_Splice_Site|AL928874.1_ENST00000579338.1_RNA|CNKSR2_ENST00000279451.4_Splice_Site|CNKSR2_ENST00000425654.2_Splice_Site	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2						regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						TTTTTATATAGAAAACTCTCT	0.323																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.e12-1		connector enhancer of kinase suppressor of Ras 2							27.0	28.0	28.0					X																	21581355		2194	4285	6479	SO:0001630	splice_region_variant	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21581355G>C	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.1394-1G>C	X.37:g.21581355G>C						CNKSR2_ENST00000279451.4_Splice_Site|CNKSR2_ENST00000379510.3_Splice_Site|CNKSR2_ENST00000485012.1_Splice_Site|CNKSR2_ENST00000543067.1_Splice_Site		NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			12	1783	+								B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Splice_Site	SNP	ENST00000379510.3	37		CCDS14198.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475791	0.63737	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1445	0.93459	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNKSR2	21491276	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.842000	0.86851	2.471000	0.83476	0.600000	0.82982	.		0.323	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927	Intron	4	29	0	0	0	1	0	4	29				
TRAK2	66008	broad.mit.edu	37	2	202245467	202245467	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:202245467C>G	ENST00000332624.3	-	16	2972	c.2544G>C	c.(2542-2544)aaG>aaC	p.K848N		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	848					protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						CACCAGGGTTCTTGACCACTC	0.478																																						ENST00000332624.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						c.(2542-2544)aaG>aaC		trafficking protein, kinesin binding 2							79.0	84.0	82.0					2																	202245467		2203	4300	6503	SO:0001583	missense	66008					early endosome|plasma membrane	GABA receptor binding	g.chr2:202245467C>G	AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98"""	607334	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"""	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.2544G>C	2.37:g.202245467C>G	ENSP00000328875:p.Lys848Asn						p.K848N	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN			16	2972	-			848	Missing (in Ref. 2).				E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	ENST00000332624.3	37	c.2544G>C	CCDS2347.1	.	.	.	.	.	.	.	.	.	.	C	1.477	-0.558216	0.03967	.	.	ENSG00000115993	ENST00000332624;ENST00000542292	T	0.06687	3.27	5.55	3.78	0.43462	.	0.132111	0.51477	D	0.000087	T	0.04227	0.0117	N	0.14661	0.345	0.80722	D	1	B	0.10296	0.003	B	0.06405	0.002	T	0.41395	-0.9511	10	0.15066	T	0.55	.	6.2666	0.20930	0.0:0.6528:0.1339:0.2133	.	848	O60296	TRAK2_HUMAN	N	848;754	ENSP00000328875:K848N	ENSP00000328875:K848N	K	-	3	2	TRAK2	201953712	0.364000	0.24997	0.777000	0.31699	0.604000	0.37047	0.734000	0.26101	0.913000	0.36797	0.591000	0.81541	AAG		0.478	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	NM_015049		12	96	0	0	0	1	0	12	96				
IGFLR1	79713	broad.mit.edu	37	19	36231466	36231466	+	Splice_Site	SNP	C	C	G	rs112857545		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:36231466C>G	ENST00000592537.1	-	3	258		c.e3-1		IGFLR1_ENST00000344990.3_Intron|IGFLR1_ENST00000588992.1_Intron|IGFLR1_ENST00000246532.1_Splice_Site|AD000671.6_ENST00000589807.1_Splice_Site|KMT2B_ENST00000607650.1_RNA|IGFLR1_ENST00000587101.1_5'UTR|IGFLR1_ENST00000592889.1_Intron			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						AACTCATAGTCTAGCGGGAAA	0.662																																						ENST00000589807.1																			0											c.e9-1									27.0	23.0	24.0					19																	36231466		2202	4300	6502	SO:0001630	splice_region_variant	0							g.chr19:36231466C>G	AK026226	CCDS12472.1	19q13.12	2012-10-02	2011-04-04	2011-04-04	ENSG00000126246	ENSG00000126246			23620	protein-coding gene	gene with protein product		614143	"""U2(RNU2) small nuclear RNA auxiliary factor 1-like 4"", ""transmembrane protein 149"""	U2AF1L4, TMEM149		21454693	Standard	NM_024660		Approved	FLJ22573	uc002obd.4	Q9H665		ENST00000592537.1:c.158-1G>C	19.37:g.36231466C>G						IGFLR1_ENST00000587101.1_5'UTR|IGFLR1_ENST00000588992.1_Intron|IGFLR1_ENST00000592889.1_Intron|IGFLR1_ENST00000246532.1_Splice_Site|IGFLR1_ENST00000592537.1_Splice_Site|IGFLR1_ENST00000344990.3_Intron								9	986	-								Q8N5X0	Splice_Site	SNP	ENST00000592537.1	37		CCDS12472.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.026813	0.35797	.	.	ENSG00000126246	ENST00000246532	.	.	.	4.62	3.59	0.41128	.	.	.	.	.	.	.	.	.	.	.	0.35275	D	0.780832	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.9449	0.29980	0.0:0.8905:0.0:0.1095	.	.	.	.	.	-1	.	.	.	-	.	.	IGFLR1	40923306	0.182000	0.23173	0.073000	0.20177	0.142000	0.21351	1.347000	0.33975	2.557000	0.86248	0.561000	0.74099	.		0.662	IGFLR1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459077.1	NM_024660	Intron	9	67	0	0	0	1	0	9	67				
PCDHA3	56145	broad.mit.edu	37	5	140182485	140182485	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:140182485C>A	ENST00000522353.2	+	1	1703	c.1703C>A	c.(1702-1704)cCt>cAt	p.P568H	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.P568H|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	568					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCTGATGCCTCGGGTGGGT	0.687																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(1702-1704)cCt>cAt									86.0	86.0	86.0					5																	140182485		2203	4298	6501	SO:0001583	missense	0							g.chr5:140182485C>A	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1703C>A	5.37:g.140182485C>A	ENSP00000429808:p.Pro568His					PCDHA3_ENST00000532566.2_Missense_Mutation_p.P568H|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.P568H	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1703	+								O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.1703C>A	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	c	6.554	0.470562	0.12461	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.61392	0.11;0.11	4.54	2.71	0.32032	Cadherin-like (1);	0.420300	0.17143	U	0.185362	T	0.60235	0.2253	M	0.85299	2.745	0.25243	N	0.989738	B;B	0.26547	0.152;0.119	B;B	0.28709	0.093;0.078	T	0.56637	-0.7946	10	0.54805	T	0.06	.	9.3607	0.38195	0.0:0.7602:0.1584:0.0814	.	568;568	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	H	568	ENSP00000429808:P568H;ENSP00000434086:P568H	ENSP00000429808:P568H	P	+	2	0	PCDHA3	140162669	0.054000	0.20591	0.067000	0.19924	0.268000	0.26511	0.609000	0.24238	0.442000	0.26555	0.313000	0.20887	CCT		0.687	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		21	153	1	0	1.37657e-19	1	1.51981e-19	21	153				
RSF1	51773	broad.mit.edu	37	11	77412843	77412843	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:77412843G>T	ENST00000308488.6	-	6	1733	c.1431C>A	c.(1429-1431)gaC>gaA	p.D477E	RSF1_ENST00000360355.2_Missense_Mutation_p.D446E|RSF1_ENST00000480887.1_Missense_Mutation_p.D225E			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	477					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TGATATTTCTGTCCTTAGAGG	0.398																																						ENST00000308488.6																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(1429-1431)gaC>gaA		remodeling and spacing factor 1							122.0	120.0	121.0					11																	77412843		2200	4292	6492	SO:0001583	missense	51773				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	g.chr11:77412843G>T	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.1431C>A	11.37:g.77412843G>T	ENSP00000311513:p.Asp477Glu					RSF1_ENST00000360355.2_Missense_Mutation_p.D446E|RSF1_ENST00000480887.1_Missense_Mutation_p.D225E	p.D477E			Q96T23	RSF1_HUMAN	Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)		6	1733	-	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		477					Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Missense_Mutation	SNP	ENST00000308488.6	37	c.1431C>A	CCDS8253.1	.	.	.	.	.	.	.	.	.	.	G	1.753	-0.488749	0.04352	.	.	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355;ENST00000526324;ENST00000528095	D;T;D;T;T	0.81659	-1.52;-1.42;-1.51;-1.29;1.91	5.54	-1.85	0.07784	.	0.339854	0.25469	N	0.030443	T	0.53417	0.1795	N	0.20986	0.625	0.28743	N	0.901854	B	0.06786	0.001	B	0.06405	0.002	T	0.37478	-0.9704	10	0.06494	T	0.89	-3.853	0.1504	0.00092	0.2522:0.189:0.2625:0.2963	.	477	Q96T23	RSF1_HUMAN	E	477;225;446;278;476	ENSP00000311513:D477E;ENSP00000434509:D225E;ENSP00000353511:D446E;ENSP00000432022:D278E;ENSP00000436408:D476E	ENSP00000311513:D477E	D	-	3	2	RSF1	77090491	0.938000	0.31826	0.156000	0.22583	0.969000	0.65631	0.167000	0.16602	-0.229000	0.09854	0.655000	0.94253	GAC		0.398	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		8	79	1	0	0.00307968	1	0.00314474	8	79				
ATP2B4	493	broad.mit.edu	37	1	203693021	203693021	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:203693021G>C	ENST00000357681.5	+	19	4160	c.3037G>C	c.(3037-3039)Gaa>Caa	p.E1013Q	ATP2B4_ENST00000367218.3_Missense_Mutation_p.E1013Q|ATP2B4_ENST00000391954.2_Intron|ATP2B4_ENST00000367219.3_Missense_Mutation_p.E1001Q|ATP2B4_ENST00000341360.2_Missense_Mutation_p.E1013Q	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	1013					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TTTCATCGTGGAATTTGGGGG	0.532																																						ENST00000357681.5																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56						c.(3037-3039)Gaa>Caa		ATPase, Ca++ transporting, plasma membrane 4							134.0	135.0	135.0					1																	203693021		2203	4300	6503	SO:0001583	missense	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203693021G>C	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.3037G>C	1.37:g.203693021G>C	ENSP00000350310:p.Glu1013Gln					ATP2B4_ENST00000341360.2_Missense_Mutation_p.E1013Q|ATP2B4_ENST00000367218.3_Missense_Mutation_p.E1013Q|ATP2B4_ENST00000391954.2_Intron|ATP2B4_ENST00000367219.3_Missense_Mutation_p.E1001Q	p.E1013Q	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		19	4160	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		1013					B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	c.3037G>C	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.617049	0.28801	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000341360	D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79	5.19	5.19	0.71726	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.113463	0.39687	N	0.001297	D	0.92374	0.7580	N	0.11106	0.095	0.80722	D	1	D;B;P	0.58970	0.984;0.014;0.883	P;B;P	0.56474	0.799;0.018;0.575	D	0.89120	0.3502	10	0.02654	T	1	-14.1206	18.2983	0.90154	0.0:0.0:1.0:0.0	.	1013;1013;1013	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	Q	1013;1013;1001;1013	ENSP00000350310:E1013Q;ENSP00000356187:E1013Q;ENSP00000356188:E1001Q;ENSP00000340930:E1013Q	ENSP00000340930:E1013Q	E	+	1	0	ATP2B4	201959644	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.005000	0.70716	2.426000	0.82243	0.650000	0.86243	GAA		0.532	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		5	138	0	0	0	1	0	5	138				
METTL25	84190	broad.mit.edu	37	12	82780731	82780731	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:82780731C>G	ENST00000248306.3	+	2	478	c.409C>G	c.(409-411)Caa>Gaa	p.Q137E	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	137							methyltransferase activity (GO:0008168)										TCGAGGAAATCAAAACCAGAG	0.368																																						ENST00000248306.3																			0											c.(409-411)Caa>Gaa		methyltransferase like 25							120.0	121.0	120.0					12																	82780731		2203	4300	6503	SO:0001583	missense	84190							g.chr12:82780731C>G	BC029120	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720			26228	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 26"""	C12orf26			Standard	NM_032230		Approved	FLJ22789	uc001szq.3	Q8N6Q8	OTTHUMG00000170252	ENST00000248306.3:c.409C>G	12.37:g.82780731C>G	ENSP00000248306:p.Gln137Glu					METTL25_ENST00000547357.1_3'UTR	p.Q137E	NM_032230.2	NP_115606.2					2	478	+								Q9H5Y3	Missense_Mutation	SNP	ENST00000248306.3	37	c.409C>G	CCDS9024.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.846|3.846	-0.032810|-0.032810	0.07543|0.07543	.|.	.|.	ENSG00000127720|ENSG00000127720	ENST00000550058|ENST00000248306;ENST00000548200	.|T	.|0.29655	.|1.56	5.84|5.84	-1.25|-1.25	0.09405|0.09405	.|.	.|1.504390	.|0.03156	.|N	.|0.168543	T|T	0.29423|0.29423	0.0733|0.0733	M|M	0.64997|0.64997	1.995|1.995	0.09310|0.09310	N|N	1|1	.|B	.|0.18013	.|0.025	.|B	.|0.15870	.|0.014	T|T	0.42068|0.42068	-0.9473|-0.9473	5|10	.|0.02654	.|T	.|1	0.7368|0.7368	11.6924|11.6924	0.51523|0.51523	0.6268:0.2746:0.0986:0.0|0.6268:0.2746:0.0986:0.0	.|.	.|137	.|Q8N6Q8	.|CL026_HUMAN	M|E	95|137	.|ENSP00000248306:Q137E	.|ENSP00000248306:Q137E	I|Q	+|+	3|1	3|0	C12orf26|C12orf26	81304862|81304862	0.065000|0.065000	0.20965|0.20965	0.055000|0.055000	0.19348|0.19348	0.036000|0.036000	0.12997|0.12997	-0.039000|-0.039000	0.12124|0.12124	-0.425000|-0.425000	0.07371|0.07371	-0.182000|-0.182000	0.12963|0.12963	ATC|CAA		0.368	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408192.1	NM_032230		4	78	0	0	0	1	0	4	78				
MAN1B1	11253	broad.mit.edu	37	9	139995996	139995996	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr9:139995996G>A	ENST00000371589.4	+	8	1199	c.1126G>A	c.(1126-1128)Gat>Aat	p.D376N	MAN1B1_ENST00000474902.1_Missense_Mutation_p.D79N	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	376					cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		TCCTTACTCGGATGTGAACAT	0.547																																						ENST00000371589.4																			0				autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14						c.(1126-1128)Gat>Aat		mannosidase, alpha, class 1B, member 1							91.0	78.0	82.0					9																	139995996		2203	4300	6503	SO:0001583	missense	11253				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr9:139995996G>A	AF145732	CCDS7029.1	9q34.3	2014-05-27			ENSG00000177239	ENSG00000177239			6823	protein-coding gene	gene with protein product	"""endoplasmic reticulum alpha-mannosidase 1"", ""alpha 1,2-mannosidase"", ""endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1"", ""ER alpha 1,2-mannosidase"", ""Man9GlcNAc2-specific processing alpha-mannosidase"""	604346				10409699, 10521544	Standard	NM_016219		Approved	MANA-ER, MRT15	uc004cld.3	Q9UKM7	OTTHUMG00000020978	ENST00000371589.4:c.1126G>A	9.37:g.139995996G>A	ENSP00000360645:p.Asp376Asn					MAN1B1_ENST00000474902.1_Missense_Mutation_p.D79N	p.D376N	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)	8	1199	+	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	376					Q5VSG3|Q9BRS9|Q9Y5K7	Missense_Mutation	SNP	ENST00000371589.4	37	c.1126G>A	CCDS7029.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.4|22.4	4.282652|4.282652	0.80692|0.80692	.|.	.|.	ENSG00000177239|ENSG00000177239	ENST00000371589;ENST00000474902|ENST00000535144	T;T|.	0.71579|.	-0.58;-0.58|.	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	0.000000|.	0.64402|.	U|.	0.000001|.	T|T	0.69663|0.69663	0.3136|0.3136	L|L	0.49778|0.49778	1.585|1.585	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.76494|.	0.992;0.995;0.995;0.999|.	P;D;D;D|.	0.77557|.	0.85;0.99;0.971;0.99|.	T|T	0.66444|0.66444	-0.5922|-0.5922	9|5	.|.	.|.	.|.	-8.5994|-8.5994	18.0998|18.0998	0.89503|0.89503	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	277;340;376;277|.	B4DPS9;B4DR05;Q9UKM7;Q68D80|.	.;.;MA1B1_HUMAN;.|.	N|E	376;79|349	ENSP00000360645:D376N;ENSP00000447256:D79N|.	.|.	D|G	+|+	1|2	0|0	MAN1B1|MAN1B1	139115817|139115817	1.000000|1.000000	0.71417|0.71417	0.815000|0.815000	0.32552|0.32552	0.196000|0.196000	0.23810|0.23810	6.399000|6.399000	0.73248|0.73248	2.510000|2.510000	0.84645|0.84645	0.561000|0.561000	0.74099|0.74099	GAT|GGA		0.547	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055294.2	NM_016219		5	42	0	0	0	1	0	5	42				
LEFTY2	7044	broad.mit.edu	37	1	226125369	226125369	+	Silent	SNP	G	G	A	rs536871035	byFrequency	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:226125369G>A	ENST00000366820.5	-	4	1221	c.873C>T	c.(871-873)taC>taT	p.Y291Y	LEFTY2_ENST00000474493.1_5'Flank|RP4-559A3.6_ENST00000513672.1_RNA|LEFTY2_ENST00000420304.2_Silent_p.Y257Y	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	291					blood coagulation (GO:0007596)|cell growth (GO:0016049)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					CCACACACTCGTAAGCCAGGA	0.662													G|||	5	0.000998403	0.0008	0.0	5008	,	,		14978	0.004		0.0	False		,,,				2504	0.0				Colon(172;116 2643 9098 43333)	ENST00000366820.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16						c.(871-873)taC>taT		left-right determination factor 2							18.0	21.0	20.0					1																	226125369		2202	4300	6502	SO:0001819	synonymous_variant	7044				cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding	g.chr1:226125369G>A	U81523	CCDS1549.1, CCDS53479.1	1q42.1	2008-07-18	2004-11-17	2004-11-17	ENSG00000143768	ENSG00000143768			3122	protein-coding gene	gene with protein product	"""transforming growth factor, beta-4 (endometrial bleeding-associated factor; LEFTY A)"""	601877	"""endometrial bleeding associated factor (left-right determination, factor A; transforming growth factor beta superfamily)"""	TGFB4, EBAF		9153275	Standard	NM_001172425		Approved	LEFTA, LEFTYA	uc001hpt.2	O00292	OTTHUMG00000037441	ENST00000366820.5:c.873C>T	1.37:g.226125369G>A						LEFTY2_ENST00000420304.2_Silent_p.Y257Y	p.Y291Y	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN			4	1221	-	Breast(184;0.197)		291					B3KNH4|B4E332|E9PDM4|O75611|Q5TE89|Q8NBQ9	Silent	SNP	ENST00000366820.5	37	c.873C>T	CCDS1549.1																																																																																				0.662	LEFTY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091152.1	NM_003240		3	40	0	0	0	1	0	3	40				
OR4C16	219428	broad.mit.edu	37	11	55339928	55339928	+	Missense_Mutation	SNP	G	G	C	rs556810624	byFrequency	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:55339928G>C	ENST00000314634.3	+	1	325	c.325G>C	c.(325-327)Gag>Cag	p.E109Q		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TGGCTGCCTGGAGATCTTCAT	0.483																																						ENST00000314634.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(325-327)Gag>Cag		olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)							222.0	214.0	217.0					11																	55339928		2201	4296	6497	SO:0001583	missense	219428				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55339928G>C	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"""GPCR / Class A : Olfactory receptors"""	15172	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 16"""				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.325G>C	11.37:g.55339928G>C	ENSP00000324913:p.Glu109Gln						p.E109Q	NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN			1	325	+		all_epithelial(135;0.0748)	109					Q6IEV8	Missense_Mutation	SNP	ENST00000314634.3	37	c.325G>C	CCDS31502.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.242860	0.39598	.	.	ENSG00000181935	ENST00000314634	T	0.39997	1.05	4.88	3.96	0.45880	GPCR, rhodopsin-like superfamily (1);	0.089760	0.48286	D	0.000199	T	0.49712	0.1573	M	0.86502	2.82	0.09310	N	1	P	0.40553	0.721	B	0.39562	0.303	T	0.54715	-0.8252	10	0.87932	D	0	.	12.1972	0.54305	0.0:0.0:0.8279:0.1721	.	109	Q8NGL9	OR4CG_HUMAN	Q	109	ENSP00000324913:E109Q	ENSP00000324913:E109Q	E	+	1	0	OR4C16	55096504	0.015000	0.18098	0.998000	0.56505	0.977000	0.68977	1.657000	0.37366	1.263000	0.44181	0.549000	0.68633	GAG		0.483	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		17	126	0	0	0	1	0	17	126				
ALDH6A1	4329	broad.mit.edu	37	14	74534271	74534271	+	Splice_Site	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:74534271C>A	ENST00000553458.1	-	8	952	c.854G>T	c.(853-855)gGa>gTa	p.G285V	ALDH6A1_ENST00000350259.4_Splice_Site_p.G272V|ALDH6A1_ENST00000555126.1_Splice_Site_p.G2V|CCDC176_ENST00000553773.1_Intron|AC005484.5_ENST00000492026.1_RNA	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	285					branched-chain amino acid catabolic process (GO:0009083)|brown fat cell differentiation (GO:0050873)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|thymine metabolic process (GO:0019859)|valine catabolic process (GO:0006574)|valine metabolic process (GO:0006573)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fatty-acyl-CoA binding (GO:0000062)|malonate-semialdehyde dehydrogenase (acetylating) activity (GO:0018478)|methylmalonate-semialdehyde dehydrogenase (acylating) activity (GO:0004491)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)		GTTCTTGGCTCCCTAAAAAAA	0.478																																						ENST00000553458.1																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21						c.e8-1		aldehyde dehydrogenase 6 family, member A1	NADH(DB00157)						58.0	60.0	59.0					14																	74534271		2203	4300	6503	SO:0001630	splice_region_variant	4329					mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity	g.chr14:74534271C>A	M93405	CCDS9826.1, CCDS61501.1	14q24.3	2014-02-03			ENSG00000119711	ENSG00000119711	1.2.1.27	"""Aldehyde dehydrogenases"""	7179	protein-coding gene	gene with protein product		603178		MMSDH		1527093	Standard	NM_005589		Approved		uc001xpo.3	Q02252	OTTHUMG00000171203	ENST00000553458.1:c.853-1G>T	14.37:g.74534271C>A						ALDH6A1_ENST00000555126.1_Splice_Site_p.G2_splice|CCDC176_ENST00000553773.1_Intron|ALDH6A1_ENST00000350259.4_Splice_Site_p.G272_splice|AC005484.5_ENST00000492026.1_RNA	p.G285_splice	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00354)	8	952	-			285					B2R609|B4DFS8|J3KNU8|Q9UKM8	Splice_Site	SNP	ENST00000553458.1	37	c.852_splice	CCDS9826.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906502	0.92107	.	.	ENSG00000119711	ENST00000553458;ENST00000350259;ENST00000555126	D;D;D	0.87179	-2.22;-2.22;-2.22	5.93	5.93	0.95920	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.96750	0.8939	H	0.98918	4.37	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	D	0.97755	1.0217	10	0.87932	D	0	.	20.3495	0.98807	0.0:1.0:0.0:0.0	.	272;285	B4DFS8;Q02252	.;MMSA_HUMAN	V	285;272;2	ENSP00000450436:G285V;ENSP00000342564:G272V;ENSP00000452081:G2V	ENSP00000342564:G285V	G	-	2	0	ALDH6A1	73604024	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.805000	0.86005	2.814000	0.96858	0.591000	0.81541	GGA		0.478	ALDH6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412309.1		Missense_Mutation	4	31	1	0	2.56e-06	1	2.69637e-06	4	31				
MEOX2	4223	broad.mit.edu	37	7	15725701	15725701	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:15725701G>A	ENST00000262041.5	-	1	736	c.327C>T	c.(325-327)tgC>tgT	p.C109C	AC005550.4_ENST00000442176.1_lincRNA|AC005550.5_ENST00000438923.1_lincRNA	NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	109					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|limb development (GO:0060173)|multicellular organismal development (GO:0007275)|neuron death (GO:0070997)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|somite specification (GO:0001757)	cytoplasm (GO:0005737)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		CGGGCTGGAGGCAGAGGCTGT	0.672																																					Esophageal Squamous(140;197 1769 16409 18257 29929)	ENST00000262041.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(325-327)tgC>tgT		mesenchyme homeobox 2							11.0	14.0	13.0					7																	15725701		2183	4265	6448	SO:0001819	synonymous_variant	4223				blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:15725701G>A		CCDS34605.1	7p22.1-p21.3	2014-07-15	2005-12-22		ENSG00000106511	ENSG00000106511		"""Homeoboxes / ANTP class : HOXL subclass"""	7014	protein-coding gene	gene with protein product	"""growth arrest-specific homeobox"""	600535	"""mesenchyme homeo box 2 (growth arrest-specific homeo box)"", ""mesenchyme homeobox 2 (growth arrest-specific homeo box)"""	GAX		7713505	Standard	NM_005924		Approved	MOX2	uc003stc.3	P50222	OTTHUMG00000152390	ENST00000262041.5:c.327C>T	7.37:g.15725701G>A							p.C109C	NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)	1	736	-			109					B2R8I7|O75263|Q9UPL6	Silent	SNP	ENST00000262041.5	37	c.327C>T	CCDS34605.1																																																																																				0.672	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326058.2	NM_005924		3	16	0	0	0	1	0	3	16				
AGA	175	broad.mit.edu	37	4	178360736	178360736	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:178360736C>G	ENST00000264595.2	-	3	515	c.388G>C	c.(388-390)Gag>Cag	p.E130Q	AGA_ENST00000506853.1_5'UTR	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	130					protein deglycosylation (GO:0006517)|protein maturation (GO:0051604)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity (GO:0003948)|peptidase activity (GO:0008233)			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		ATACCTGACTCTCCTACTAAA	0.343																																						ENST00000264595.2																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16						c.(388-390)Gag>Cag		aspartylglucosaminidase							155.0	150.0	152.0					4																	178360736		2203	4300	6503	SO:0001583	missense	175				asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	g.chr4:178360736C>G	X55330	CCDS3829.1	4q34.3	2014-06-23			ENSG00000038002	ENSG00000038002	3.5.1.26		318	protein-coding gene	gene with protein product	"""glycosylasparaginase"", ""N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase"""	613228					Standard	NM_000027		Approved	ASRG	uc003iuu.2	P20933	OTTHUMG00000160723	ENST00000264595.2:c.388G>C	4.37:g.178360736C>G	ENSP00000264595:p.Glu130Gln					AGA_ENST00000506853.1_5'UTR	p.E130Q	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)	3	515	-		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)	130					B2R7H2|D3DP47|Q4W5Q2|Q6FHN6|Q9UCK6|Q9UCK7|Q9UCK8	Missense_Mutation	SNP	ENST00000264595.2	37	c.388G>C	CCDS3829.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.9|20.9	4.071722|4.071722	0.76301|0.76301	.|.	.|.	ENSG00000038002|ENSG00000038002	ENST00000510635|ENST00000264595;ENST00000502310	.|D;D	.|0.89270	.|-2.49;-2.33	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.090648|0.090648	0.85682|0.85682	N|D	0.000000|0.000000	D|D	0.91109|0.91109	0.7201|0.7201	M|M	0.68728|0.68728	2.09|2.09	0.80722|0.80722	D|D	1|1	.|B	.|0.28713	.|0.22	.|B	.|0.40199	.|0.322	D|D	0.88950|0.88950	0.3386|0.3386	6|10	.|0.49607	.|T	.|0.09	-25.8187|-25.8187	19.4063|19.4063	0.94648|0.94648	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|130	.|P20933	.|ASPG_HUMAN	D|Q	28|130;15	.|ENSP00000264595:E130Q;ENSP00000423798:E15Q	.|ENSP00000264595:E130Q	E|E	-|-	3|1	2|0	AGA|AGA	178597730|178597730	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.886000|0.886000	0.51366|0.51366	7.052000|7.052000	0.76634|0.76634	2.690000|2.690000	0.91761|0.91761	0.655000|0.655000	0.94253|0.94253	GAG|GAG		0.343	AGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361916.1	NM_000027		14	70	0	0	0	1	0	14	70				
MDN1	23195	broad.mit.edu	37	6	90371187	90371187	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:90371187C>T	ENST00000369393.3	-	88	14791	c.14676G>A	c.(14674-14676)aaG>aaA	p.K4892K	MDN1_ENST00000428876.1_Silent_p.K4892K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4892					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)		CACCACCATTCTTGTCTTCAC	0.458																																						ENST00000369393.3																			0				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						c.(14674-14676)aaG>aaA		MDN1, midasin homolog (yeast)							206.0	196.0	199.0					6																	90371187		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.chr6:90371187C>T	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.14676G>A	6.37:g.90371187C>T						MDN1_ENST00000428876.1_Silent_p.K4892K	p.K4892K			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	88	14791	-		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)	4892					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.14676G>A	CCDS5024.1																																																																																				0.458	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			7	101	0	0	0	1	0	7	101				
REV1	51455	broad.mit.edu	37	2	100022444	100022444	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:100022444C>G	ENST00000258428.3	-	17	2967	c.2739G>C	c.(2737-2739)tgG>tgC	p.W913C	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Missense_Mutation_p.W912C|RP11-527J8.1_ENST00000608144.1_RNA	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	913					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTAGACCATTCCATTTCCCTG	0.443								Direct reversal of damage																														ENST00000258428.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2737-2739)tgG>tgC	Direct reversal of damage	REV1, polymerase (DNA directed)							107.0	97.0	100.0					2																	100022444		2203	4300	6503	SO:0001583	missense	51455				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	g.chr2:100022444C>G	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.2739G>C	2.37:g.100022444C>G	ENSP00000258428:p.Trp913Cys					REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Missense_Mutation_p.W912C	p.W913C	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN			17	2967	-			913					O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	ENST00000258428.3	37	c.2739G>C	CCDS2045.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.005578	0.54254	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	T;T	0.27104	1.69;1.69	5.99	5.11	0.69529	.	0.361710	0.32608	N	0.005864	T	0.41282	0.1152	M	0.68317	2.08	0.49483	D	0.999795	D;D	0.59357	0.985;0.975	P;P	0.51999	0.628;0.687	T	0.28933	-1.0028	10	0.38643	T	0.18	.	17.3913	0.87432	0.0:0.8754:0.1246:0.0	.	913;912	Q9UBZ9;Q9UBZ9-2	REV1_HUMAN;.	C	912;913	ENSP00000377091:W912C;ENSP00000258428:W913C	ENSP00000258428:W913C	W	-	3	0	REV1	99388876	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.593000	0.46180	1.529000	0.49120	0.655000	0.94253	TGG		0.443	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		3	47	0	0	0	1	0	3	47				
DCHS1	8642	broad.mit.edu	37	11	6655238	6655238	+	Missense_Mutation	SNP	G	G	C	rs146086570	byFrequency	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:6655238G>C	ENST00000299441.3	-	4	2411	c.2000C>G	c.(1999-2001)tCc>tGc	p.S667C	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	667	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATATACCATGGACTTGAGGCC	0.552																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(1999-2001)tCc>tGc		dachsous cadherin-related 1		G	CYS/SER	0,4402		0,0,2201	64.0	64.0	64.0		2000	4.6	1.0	11	dbSNP_134	64	3,8589	3.0+/-9.4	0,3,4293	yes	missense	DCHS1	NM_003737.2	112	0,3,6494	CC,CG,GG		0.0349,0.0,0.0231	probably-damaging	667/3299	6655238	3,12991	2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6655238G>C	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.2000C>G	11.37:g.6655238G>C	ENSP00000299441:p.Ser667Cys					RP11-732A19.6_ENST00000526633.1_RNA	p.S667C	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	2411	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	667			Cadherin 6.		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.2000C>G	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.920078	0.73098	0.0	3.49E-4	ENSG00000166341	ENST00000299441	T	0.55052	0.54	4.59	4.59	0.56863	Cadherin (4);Cadherin-like (1);	0.000000	0.41097	D	0.000942	T	0.71542	0.3352	M	0.75447	2.3	0.58432	D	0.99999	D	0.89917	1.0	D	0.85130	0.997	T	0.75414	-0.3326	10	0.72032	D	0.01	.	14.721	0.69305	0.0:0.0:1.0:0.0	.	667	Q96JQ0	PCD16_HUMAN	C	667	ENSP00000299441:S667C	ENSP00000299441:S667C	S	-	2	0	DCHS1	6611814	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.571000	0.90752	2.397000	0.81536	0.561000	0.74099	TCC		0.552	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		9	60	0	0	0	1	0	9	60				
FGFR4	2264	broad.mit.edu	37	5	176519359	176519359	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:176519359C>T	ENST00000292408.4	+	7	1010	c.765C>T	c.(763-765)ctC>ctT	p.L255L	FGFR4_ENST00000393637.1_Silent_p.L255L|FGFR4_ENST00000502906.1_Silent_p.L255L|FGFR4_ENST00000393648.2_Silent_p.L255L|FGFR4_ENST00000292410.3_Silent_p.L255L	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	255	Ig-like C2-type 3.				alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)|Ponatinib(DB08901)	AGGCCGGGCTCCCGGCCAACA	0.667										TSP Lung(9;0.080)																												ENST00000292408.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34						c.(763-765)ctC>ctT		fibroblast growth factor receptor 4	Palifermin(DB00039)						22.0	24.0	23.0					5																	176519359		2200	4298	6498	SO:0001819	synonymous_variant	2264				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	g.chr5:176519359C>T	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.765C>T	5.37:g.176519359C>T		TSP Lung(9;0.080)				FGFR4_ENST00000292410.3_Silent_p.L255L|FGFR4_ENST00000393637.1_Silent_p.L255L|FGFR4_ENST00000393648.2_Silent_p.L255L|FGFR4_ENST00000502906.1_Silent_p.L255L	p.L255L	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		7	1010	+	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	255			Ig-like C2-type 3.		G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Silent	SNP	ENST00000292408.4	37	c.765C>T	CCDS4410.1																																																																																				0.667	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1			7	24	0	0	0	1	0	7	24				
ZNF493	284443	broad.mit.edu	37	19	21588648	21588648	+	Intron	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:21588648C>G	ENST00000355504.4	+	1	135				CTD-2561J22.3_ENST00000600810.1_Silent_p.V62V|ZNF493_ENST00000339914.6_Silent_p.V82V|ZNF493_ENST00000596302.1_Silent_p.V82V|ZNF493_ENST00000594390.1_Silent_p.V81V|ZNF493_ENST00000392288.2_Silent_p.V81V	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						GTACGGTAGTCAAACCCCCAG	0.408																																						ENST00000392288.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(241-243)gtC>gtG		zinc finger protein 493							77.0	80.0	79.0					19																	21588648		2203	4300	6503	SO:0001627	intron_variant	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21588648C>G	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.-132+8579C>G	19.37:g.21588648C>G						CTD-2561J22.3_ENST00000600810.1_Silent_p.V62V|ZNF493_ENST00000596302.1_Silent_p.V82V|ZNF493_ENST00000594390.1_Silent_p.V81V|ZNF493_ENST00000355504.4_Intron|ZNF493_ENST00000339914.6_Silent_p.V82V	p.V81V	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN			3	352	+			0					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Silent	SNP	ENST00000355504.4	37	c.243C>G	CCDS12412.1																																																																																				0.408	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		4	52	0	0	0	1	0	4	52				
TRO	7216	broad.mit.edu	37	X	54955689	54955689	+	Silent	SNP	A	A	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:54955689A>G	ENST00000173898.7	+	12	2644	c.2532A>G	c.(2530-2532)ggA>ggG	p.G844G	TRO_ENST00000375022.4_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000319167.8_Intron|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000420798.2_Silent_p.G375G|TRO_ENST00000375041.2_Silent_p.G447G	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	844	62 X 10 AA approximate tandem repeats.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TCAGTGGTGGAGCCAGCTCTG	0.557																																						ENST00000173898.7																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(2530-2532)ggA>ggG		trophinin							39.0	36.0	37.0					X																	54955689		2186	4268	6454	SO:0001819	synonymous_variant	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54955689A>G	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.2532A>G	X.37:g.54955689A>G						TRO_ENST00000319167.8_Intron|TRO_ENST00000375041.2_Silent_p.G447G|TRO_ENST00000399736.1_Intron|TRO_ENST00000420798.2_Silent_p.G375G|TRO_ENST00000375022.4_Intron	p.G844G	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN			12	2644	+			844			62 X 10 AA approximate tandem repeats.		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Silent	SNP	ENST00000173898.7	37	c.2532A>G	CCDS43959.1																																																																																				0.557	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		4	52	0	0	0	1	0	4	52				
DSP	1832	broad.mit.edu	37	6	7571654	7571654	+	Silent	SNP	A	A	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:7571654A>T	ENST00000379802.3	+	14	2081	c.1740A>T	c.(1738-1740)atA>atT	p.I580I	DSP_ENST00000418664.2_Silent_p.I580I	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	580	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGAAGACGATAGCCGACCTTG	0.443																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(1738-1740)atA>atT		desmoplakin							242.0	237.0	239.0					6																	7571654		2203	4300	6503	SO:0001819	synonymous_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7571654A>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.1740A>T	6.37:g.7571654A>T						DSP_ENST00000418664.2_Silent_p.I580I	p.I580I	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	14	2081	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	580			Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	c.1740A>T	CCDS4501.1																																																																																				0.443	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		27	261	0	0	0	1	0	27	261				
NFE2L2	4780	broad.mit.edu	37	2	178095740	178095740	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:178095740G>A	ENST00000397062.3	-	5	2145	c.1591C>T	c.(1591-1593)Cat>Tat	p.H531Y	NFE2L2_ENST00000397063.4_Missense_Mutation_p.H515Y|NFE2L2_ENST00000446151.2_Missense_Mutation_p.H508Y|NFE2L2_ENST00000464747.1_Missense_Mutation_p.H515Y	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	531	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCTTTCAAATGATCTAAATCT	0.343			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												ENST00000397062.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			"""NSCLC, HNSCC"""		0				central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158						c.(1591-1593)Cat>Tat		nuclear factor, erythroid 2-like 2							146.0	128.0	134.0					2																	178095740		1817	4073	5890	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178095740G>A		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.1591C>T	2.37:g.178095740G>A	ENSP00000380252:p.His531Tyr	HNSCC(56;0.16)				NFE2L2_ENST00000464747.1_Missense_Mutation_p.H515Y|NFE2L2_ENST00000446151.2_Missense_Mutation_p.H508Y|NFE2L2_ENST00000397063.4_Missense_Mutation_p.H515Y	p.H531Y	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		5	2145	-			531			Leucine-zipper.		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.1591C>T	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.370792	0.24771	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627	D;D;D;D	0.91124	-2.79;-2.79;-2.79;-2.79	5.95	5.95	0.96441	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.254572	0.47093	D	0.000248	D	0.84261	0.5433	L	0.34521	1.04	0.80722	D	1	B;B	0.22080	0.016;0.064	B;B	0.18263	0.021;0.021	T	0.79045	-0.1964	10	0.49607	T	0.09	-16.8696	8.7206	0.34439	0.0699:0.0:0.6675:0.2626	.	508;531	E9PGJ7;Q16236	.;NF2L2_HUMAN	Y	515;531;508;259	ENSP00000380253:H515Y;ENSP00000380252:H531Y;ENSP00000411575:H508Y;ENSP00000391590:H259Y	ENSP00000380252:H531Y	H	-	1	0	NFE2L2	177803986	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.459000	0.45023	2.817000	0.96982	0.563000	0.77884	CAT		0.343	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		9	60	0	0	0	1	0	9	60				
PLD3	23646	broad.mit.edu	37	19	40882619	40882619	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:40882619C>T	ENST00000409587.1	+	11	1520	c.1123C>T	c.(1123-1125)Cgg>Tgg	p.R375W	PLD3_ENST00000409281.1_Missense_Mutation_p.R375W|PLD3_ENST00000409735.4_Missense_Mutation_p.R375W|PLD3_ENST00000409419.1_Missense_Mutation_p.R375W|PLD3_ENST00000356508.5_Missense_Mutation_p.R375W			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	375					cell death (GO:0008219)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phospholipase D activity (GO:0004630)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			GCCATCCATGCGGGCCTTCCT	0.647																																						ENST00000409587.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(1123-1125)Cgg>Tgg		phospholipase D family, member 3							63.0	57.0	59.0					19																	40882619		2203	4300	6503	SO:0001583	missense	0				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding	g.chr19:40882619C>T	BC000553	CCDS33027.1	19q13.2	2014-03-14	2005-05-20		ENSG00000105223	ENSG00000105223			17158	protein-coding gene	gene with protein product		615698	"""phospholipase D3"""			9140189, 15794758	Standard	XM_005258704		Approved	HU-K4	uc002onj.4	Q8IV08	OTTHUMG00000152736	ENST00000409587.1:c.1123C>T	19.37:g.40882619C>T	ENSP00000387050:p.Arg375Trp					PLD3_ENST00000356508.5_Missense_Mutation_p.R375W|PLD3_ENST00000409419.1_Missense_Mutation_p.R375W|PLD3_ENST00000409735.4_Missense_Mutation_p.R375W|PLD3_ENST00000409281.1_Missense_Mutation_p.R375W	p.R375W			Q8IV08	PLD3_HUMAN	Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)		11	1520	+			375					Q92853|Q9BW87	Missense_Mutation	SNP	ENST00000409587.1	37	c.1123C>T	CCDS33027.1	.	.	.	.	.	.	.	.	.	.	c	14.40	2.523390	0.44866	.	.	ENSG00000105223	ENST00000409419;ENST00000409587;ENST00000356508;ENST00000536031;ENST00000409735;ENST00000409281	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	4.28	4.28	0.50868	Phospholipase D/viral envelope (1);	0.125321	0.52532	D	0.000062	T	0.30070	0.0753	L	0.29908	0.895	0.41231	D	0.986571	P	0.35844	0.524	B	0.37780	0.258	T	0.09207	-1.0685	10	0.38643	T	0.18	0.2245	7.96	0.30066	0.0:0.8899:0.0:0.1101	.	375	Q8IV08	PLD3_HUMAN	W	375;375;375;356;375;375	ENSP00000386293:R375W;ENSP00000387050:R375W;ENSP00000348901:R375W;ENSP00000386938:R375W;ENSP00000387022:R375W	ENSP00000348901:R375W	R	+	1	2	PLD3	45574459	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	1.520000	0.35899	2.241000	0.73720	0.306000	0.20318	CGG		0.647	PLD3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327721.1	NM_012268		15	73	0	0	0	1	0	15	73				
ZNF296	162979	broad.mit.edu	37	19	45575710	45575710	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:45575710C>T	ENST00000303809.2	-	3	791	c.577G>A	c.(577-579)Gag>Aag	p.E193K		NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	193					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						AGCGGGGCCTCCGGGGCCTCT	0.682																																						ENST00000303809.2																			0				breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						c.(577-579)Gag>Aag		zinc finger protein 296							22.0	26.0	25.0					19																	45575710		2200	4284	6484	SO:0001583	missense	162979				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:45575710C>T	BC019352	CCDS12653.1	19q13.32	2013-01-08	2008-06-24	2008-06-24		ENSG00000170684		"""Zinc fingers, C2H2-type"""	15981	protein-coding gene	gene with protein product		613226	"""zinc finger protein 342"""	ZNF342		11063263, 14633674	Standard	NM_145288		Approved		uc002pao.3	Q8WUU4		ENST00000303809.2:c.577G>A	19.37:g.45575710C>T	ENSP00000302770:p.Glu193Lys						p.E193K	NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN			3	791	-			193						Missense_Mutation	SNP	ENST00000303809.2	37	c.577G>A	CCDS12653.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.070846	0.76301	.	.	ENSG00000170684	ENST00000303809;ENST00000545481	T	0.05139	3.49	5.53	4.43	0.53597	.	0.368306	0.23450	N	0.048054	T	0.08223	0.0205	L	0.29908	0.895	0.36491	D	0.868454	D	0.53151	0.958	P	0.47528	0.549	T	0.21690	-1.0238	10	0.46703	T	0.11	-34.5745	13.8917	0.63742	0.0:0.8462:0.1538:0.0	.	193	Q8WUU4	ZN296_HUMAN	K	193;169	ENSP00000302770:E193K	ENSP00000302770:E193K	E	-	1	0	ZNF296	50267550	0.000000	0.05858	0.953000	0.39169	0.176000	0.22953	0.726000	0.25984	2.753000	0.94483	0.650000	0.86243	GAG		0.682	ZNF296-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457529.1	NM_145288		4	71	0	0	0	1	0	4	71				
POLR2J3	548644	broad.mit.edu	37	7	102212948	102212948	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:102212948G>C	ENST00000511313.1	-	1	82	c.21C>G	c.(19-21)ttC>ttG	p.F7L	POLR2J3_ENST00000513438.1_Missense_Mutation_p.F7L|POLR2J3_ENST00000504157.1_5'UTR|RP11-514P8.7_ENST00000514917.2_Intron			Q9H1A7	RPB1C_HUMAN	polymerase (RNA) II (DNA directed) polypeptide J3	7					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)										AGAACGACTCGAAGGCTGGAG	0.667																																						ENST00000511313.1																			0											c.(19-21)ttC>ttG		polymerase (RNA) II (DNA directed) polypeptide J3							41.0	42.0	42.0					7																	102212948		2174	4198	6372	SO:0001583	missense	548644					nucleus	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity	g.chr7:102212948G>C		CCDS47673.1	7q22.1	2013-01-21			ENSG00000168255	ENSG00000168255		"""RNA polymerase subunits"""	33853	protein-coding gene	gene with protein product						15586814	Standard	NM_001097615		Approved		uc010lid.1	Q9H1A7	OTTHUMG00000150384	ENST00000511313.1:c.21C>G	7.37:g.102212948G>C	ENSP00000422109:p.Phe7Leu					RP11-514P8.7_ENST00000514917.2_Intron|POLR2J3_ENST00000504157.1_5'UTR|POLR2J3_ENST00000513438.1_Missense_Mutation_p.F7L	p.F7L			Q9GZM3	RPB1B_HUMAN			1	82	-			7					A6NKA1	Missense_Mutation	SNP	ENST00000511313.1	37	c.21C>G		.	.	.	.	.	.	.	.	.	.	g	16.06	3.015917	0.54468	.	.	ENSG00000168255	ENST00000513506;ENST00000511313;ENST00000513438	D;D;D	0.92249	-3.0;-3.0;-3.0	0.976	-0.206	0.13193	DNA-directed RNA polymerase, RBP11-like (1);	0.000000	0.85682	D	0.000000	D	0.95220	0.8450	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90599	0.4543	10	0.62326	D	0.03	.	4.9427	0.13975	0.4403:0.0:0.5597:0.0	.	7	Q9GZM3	RPB1B_HUMAN	L	7	ENSP00000421085:F7L;ENSP00000422109:F7L;ENSP00000421950:F7L	ENSP00000368645:F7L	F	-	3	2	POLR2J3	102000053	1.000000	0.71417	0.488000	0.27440	0.055000	0.15305	1.714000	0.37961	-1.096000	0.03046	-1.109000	0.02080	TTC		0.667	POLR2J3-005	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000358591.1	NM_001097615		8	233	0	0	0	1	0	8	233				
MED13L	23389	broad.mit.edu	37	12	116413008	116413008	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:116413008C>T	ENST00000281928.3	-	25	5905	c.5699G>A	c.(5698-5700)cGa>cAa	p.R1900Q		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1900						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ACGCCCAAGTCGCCCGATTAC	0.438																																						ENST00000281928.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(5698-5700)cGa>cAa		mediator complex subunit 13-like							71.0	69.0	70.0					12																	116413008		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116413008C>T	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.5699G>A	12.37:g.116413008C>T	ENSP00000281928:p.Arg1900Gln						p.R1900Q	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	25	5905	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		1900					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.5699G>A	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	C	36	5.880235	0.97062	.	.	ENSG00000123066	ENST00000281928	D	0.87966	-2.32	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.94755	0.8307	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94699	0.7881	10	0.87932	D	0	.	20.3754	0.98918	0.0:1.0:0.0:0.0	.	1900	Q71F56	MD13L_HUMAN	Q	1900	ENSP00000281928:R1900Q	ENSP00000281928:R1900Q	R	-	2	0	MED13L	114897391	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.438000	0.80431	2.894000	0.99253	0.591000	0.81541	CGA		0.438	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			5	78	0	0	0	1	0	5	78				
HIVEP3	59269	broad.mit.edu	37	1	42049679	42049679	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:42049679C>G	ENST00000372583.1	-	4	1675	c.790G>C	c.(790-792)Gag>Cag	p.E264Q	HIVEP3_ENST00000372584.1_Missense_Mutation_p.E264Q|HIVEP3_ENST00000247584.5_Missense_Mutation_p.E264Q|HIVEP3_ENST00000429157.2_Missense_Mutation_p.E264Q	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	264	Acidic 1.|No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CGCTCCATCTCCAGCCCATGT	0.572																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(790-792)Gag>Cag		human immunodeficiency virus type I enhancer binding protein 3							64.0	61.0	62.0					1																	42049679		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42049679C>G	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.790G>C	1.37:g.42049679C>G	ENSP00000361664:p.Glu264Gln					HIVEP3_ENST00000247584.5_Missense_Mutation_p.E264Q|HIVEP3_ENST00000429157.2_Missense_Mutation_p.E264Q|HIVEP3_ENST00000372583.1_Missense_Mutation_p.E264Q	p.E264Q	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	1804	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	264			Acidic 1.|No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.790G>C	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.592984	0.66219	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.07444	3.19;3.19;3.19;3.19	5.15	4.25	0.50352	.	0.116784	0.38605	N	0.001627	T	0.15782	0.0380	N	0.24115	0.695	0.43808	D	0.996368	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.977	T	0.04333	-1.0959	10	0.44086	T	0.13	-3.6772	13.2912	0.60272	0.0:0.9236:0.0:0.0764	.	264;264	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	Q	264	ENSP00000361665:E264Q;ENSP00000361664:E264Q;ENSP00000247584:E264Q;ENSP00000410828:E264Q	ENSP00000247584:E264Q	E	-	1	0	HIVEP3	41822266	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.604000	0.82830	1.417000	0.47077	0.655000	0.94253	GAG		0.572	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		9	76	0	0	0	1	0	9	76				
MIR487A	619555	broad.mit.edu	37	14	101521799	101521799	+	RNA	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:101521799G>C	ENST00000384827.1	+	0	80				MIR485_ENST00000385292.2_RNA|MIR323B_ENST00000385269.2_RNA|MIR382_ENST00000385009.2_RNA|MIR134_ENST00000385258.2_RNA	NR_030162.1				microRNA 487a																		TCATCAAAGCGAGTCATACAC	0.537																																						ENST00000385292.2																			0																				126.0	116.0	119.0					14																	101521799		1568	3582	5150			0							g.chr14:101521799G>C			14q32.31	2011-09-12	2006-02-23	2008-12-18	ENSG00000207558	ENSG00000207558		"""ncRNAs / Micro RNAs"""	32343	non-coding RNA	RNA, micro			"""microRNA 487"""	MIRN487, MIRN487A			Standard	NR_030162		Approved	hsa-mir-487, hsa-mir-487a	uc021sdk.1				14.37:g.101521799G>C								NR_030160.1						0	62	+									RNA	SNP	ENST00000384827.1	37																																																																																						0.537	MIR487A-201	KNOWN	basic	miRNA	miRNA		NR_030162		3	44	0	0	0	1	0	3	44				
OR10X1	128367	broad.mit.edu	37	1	158549080	158549080	+	Missense_Mutation	SNP	A	A	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:158549080A>G	ENST00000368150.1	-	1	609	c.610T>C	c.(610-612)Tct>Cct	p.S204P		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	204						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					TCTATACAAGACAGCCTAATA	0.433																																						ENST00000368150.1																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(610-612)Tct>Cct		olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)							86.0	86.0	86.0					1																	158549080		2203	4300	6503	SO:0001583	missense	128367				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158549080A>G	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.610T>C	1.37:g.158549080A>G	ENSP00000357132:p.Ser204Pro						p.S204P	NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN			1	609	-	all_hematologic(112;0.0378)		204					Q6IFR8	Missense_Mutation	SNP	ENST00000368150.1	37	c.610T>C	CCDS30900.1	.	.	.	.	.	.	.	.	.	.	A	11.33	1.607239	0.28623	.	.	ENSG00000186400	ENST00000368150	T	0.00301	8.21	4.8	-0.878	0.10617	GPCR, rhodopsin-like superfamily (1);	0.443674	0.19298	N	0.117720	T	0.00241	0.0007	M	0.91920	3.255	0.18873	N	0.999989	D	0.56746	0.977	P	0.57204	0.815	T	0.39663	-0.9603	10	0.87932	D	0	.	6.3048	0.21133	0.4844:0.2627:0.0:0.2529	.	204	Q8NGY0	O10X1_HUMAN	P	204	ENSP00000357132:S204P	ENSP00000357132:S204P	S	-	1	0	OR10X1	156815704	0.000000	0.05858	0.033000	0.17914	0.151000	0.21798	-0.430000	0.06973	-0.009000	0.14296	0.455000	0.32223	TCT		0.433	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		5	70	0	0	0	1	0	5	70				
SEMA6A	57556	broad.mit.edu	37	5	115782673	115782673	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:115782673G>A	ENST00000343348.6	-	19	3516	c.2729C>T	c.(2728-2730)tCt>tTt	p.S910F	SEMA6A_ENST00000257414.8_Missense_Mutation_p.S927F|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000513137.1_Missense_Mutation_p.S337F|CTB-118N6.3_ENST00000512128.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000282394.6_Missense_Mutation_p.S387F|CTB-118N6.3_ENST00000508424.1_RNA|SEMA6A_ENST00000503865.1_Missense_Mutation_p.S289F|SEMA6A_ENST00000510263.1_Missense_Mutation_p.S910F|CTB-118N6.3_ENST00000514214.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	910					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CCCGTAGGAAGAGGAGTGGTG	0.587																																						ENST00000343348.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(2728-2730)tCt>tTt		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A							61.0	68.0	66.0					5																	115782673		1973	4163	6136	SO:0001583	missense	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115782673G>A	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.2729C>T	5.37:g.115782673G>A	ENSP00000345512:p.Ser910Phe					SEMA6A_ENST00000282394.6_Missense_Mutation_p.S387F|SEMA6A_ENST00000510263.1_Missense_Mutation_p.S910F|SEMA6A_ENST00000257414.8_Missense_Mutation_p.S927F|SEMA6A_ENST00000503865.1_Missense_Mutation_p.S289F|SEMA6A_ENST00000513137.1_Missense_Mutation_p.S337F	p.S910F	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	19	3516	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	910					Q9P2H9	Missense_Mutation	SNP	ENST00000343348.6	37	c.2729C>T	CCDS47256.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.39|16.39	3.111203|3.111203	0.56398|0.56398	.|.	.|.	ENSG00000092421|ENSG00000092421	ENST00000515129|ENST00000343348;ENST00000257414;ENST00000513137;ENST00000282394;ENST00000503865;ENST00000510263	.|T;T;T;T;T;T	.|0.46819	.|2.21;2.21;0.86;2.68;0.87;2.21	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	.|0.392195	.|0.22011	.|N	.|0.065871	T|T	0.63628|0.63628	0.2527|0.2527	L|L	0.44542|0.44542	1.39|1.39	0.54753|0.54753	D|D	0.99998|0.99998	.|D;D;P;D;D;D	.|0.89917	.|0.997;0.998;0.892;1.0;0.987;0.999	.|D;D;P;D;P;D	.|0.87578	.|0.994;0.987;0.562;0.998;0.736;0.996	T|T	0.65796|0.65796	-0.6081|-0.6081	5|10	.|0.72032	.|D	.|0.01	.|.	18.3651|18.3651	0.90388|0.90388	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|289;910;454;927;387;337	.|E9PDV9;Q9H2E6;Q96SM8;Q9H2E6-2;E7ERF3;B3KU01	.|.;SEM6A_HUMAN;.;.;.;.	F|F	425|910;927;337;387;289;910	.|ENSP00000345512:S910F;ENSP00000257414:S927F;ENSP00000422997:S337F;ENSP00000282394:S387F;ENSP00000425364:S289F;ENSP00000424388:S910F	.|ENSP00000257414:S927F	L|S	-|-	1|2	0|0	SEMA6A|SEMA6A	115810572|115810572	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.993000|0.993000	0.82548|0.82548	9.100000|9.100000	0.94213|0.94213	2.436000|2.436000	0.82500|0.82500	0.563000|0.563000	0.77884|0.77884	CTT|TCT		0.587	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		8	77	0	0	0	1	0	8	77				
DPP10	57628	broad.mit.edu	37	2	116548751	116548751	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:116548751C>G	ENST00000410059.1	+	18	2106	c.1626C>G	c.(1624-1626)gaC>gaG	p.D542E	DPP10_ENST00000393147.2_Missense_Mutation_p.D546E|DPP10_ENST00000310323.8_Missense_Mutation_p.D535E|DPP10_ENST00000409163.1_Missense_Mutation_p.D492E	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	542						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ATATTGACGACTATGGTAAAA	0.323																																						ENST00000410059.1																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(1624-1626)gaC>gaG		dipeptidyl-peptidase 10 (non-functional)							76.0	79.0	78.0					2																	116548751		2200	4300	6500	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116548751C>G	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1626C>G	2.37:g.116548751C>G	ENSP00000386565:p.Asp542Glu					DPP10_ENST00000310323.8_Missense_Mutation_p.D535E|DPP10_ENST00000393147.2_Missense_Mutation_p.D546E|DPP10_ENST00000409163.1_Missense_Mutation_p.D492E	p.D542E	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN			18	2106	+			542					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.1626C>G	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.337081	0.41398	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.54	3.66	0.41972	.	0.436627	0.27134	N	0.020772	T	0.35422	0.0931	M	0.66939	2.045	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.0;0.001;0.001	T	0.19647	-1.0299	10	0.33141	T	0.24	-13.0574	4.0754	0.09901	0.184:0.617:0.0:0.199	.	535;546;538;542	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	E	542;492;546;535;492	ENSP00000386565:D542E;ENSP00000387038:D492E;ENSP00000376855:D546E;ENSP00000309066:D535E	ENSP00000309066:D535E	D	+	3	2	DPP10	116265221	0.993000	0.37304	1.000000	0.80357	0.998000	0.95712	0.091000	0.15046	0.811000	0.34303	0.650000	0.86243	GAC		0.323	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		4	30	0	0	0	1	0	4	30				
IFI44	10561	broad.mit.edu	37	1	79116090	79116090	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:79116090G>C	ENST00000370747.4	+	2	295	c.210G>C	c.(208-210)caG>caC	p.Q70H	IFI44_ENST00000495254.1_Intron|IFI44_ENST00000545124.1_Intron	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	70					response to virus (GO:0009615)	cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						AGAGTTACCAGGAAGGAAAGT	0.368																																						ENST00000370747.4																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(208-210)caG>caC		interferon-induced protein 44							155.0	155.0	155.0					1																	79116090		2203	4300	6503	SO:0001583	missense	10561				response to virus	cytoplasm		g.chr1:79116090G>C	D28915	CCDS688.1	1p31.1	2013-03-14			ENSG00000137965	ENSG00000137965			16938	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 5"""	610468				7925411	Standard	NM_006417		Approved	MTAP44, p44, TLDC5	uc001dip.4	Q8TCB0	OTTHUMG00000009723	ENST00000370747.4:c.210G>C	1.37:g.79116090G>C	ENSP00000359783:p.Gln70His					IFI44_ENST00000495254.1_Intron|IFI44_ENST00000545124.1_Intron	p.Q70H	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN			2	295	+			70					B7ZAG3|D3DQ80|Q14496	Missense_Mutation	SNP	ENST00000370747.4	37	c.210G>C	CCDS688.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.812857	0.32053	.	.	ENSG00000137965	ENST00000370747	T	0.42900	0.96	3.14	2.22	0.28083	TLDc (1);	0.828578	0.10664	N	0.648338	T	0.32164	0.0820	L	0.39898	1.24	0.09310	N	0.999998	D;D	0.65815	0.995;0.995	P;D	0.63703	0.879;0.917	T	0.06607	-1.0817	10	0.44086	T	0.13	.	6.0939	0.20008	0.1417:0.0:0.8583:0.0	.	70;70	B7ZB11;Q8TCB0	.;IFI44_HUMAN	H	70	ENSP00000359783:Q70H	ENSP00000359783:Q70H	Q	+	3	2	IFI44	78888678	0.000000	0.05858	0.001000	0.08648	0.041000	0.13682	-0.079000	0.11357	0.878000	0.35920	0.460000	0.39030	CAG		0.368	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026825.1	NM_006417		11	102	0	0	0	1	0	11	102				
YOD1	55432	broad.mit.edu	37	1	207222908	207222908	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:207222908G>A	ENST00000315927.4	-	2	550	c.504C>T	c.(502-504)gtC>gtT	p.V168V	PFKFB2_ENST00000411990.2_5'UTR|YOD1_ENST00000367084.1_Silent_p.V124V|YOD1_ENST00000391927.1_Silent_p.V124V	NM_018566.3	NP_061036.3	Q5VVQ6	OTU1_HUMAN	YOD1 deubiquitinase	168	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular amino acid metabolic process (GO:0006520)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)		Lys48-specific deubiquitinase activity (GO:1990380)|metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					CTCCTTCGACGACATAGTACA	0.488																																						ENST00000367084.1																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11						c.(370-372)gtC>gtT		YOD1 deubiquitinase							76.0	70.0	72.0					1																	207222908		2203	4300	6503	SO:0001819	synonymous_variant	55432				cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination	intracellular	protein binding|ubiquitin-specific protease activity|zinc ion binding	g.chr1:207222908G>A		CCDS31002.1, CCDS60402.1	1q32.2	2013-06-04	2013-06-04		ENSG00000180667	ENSG00000180667		"""OTU domain containing"""	25035	protein-coding gene	gene with protein product		612023	"""YOD1 OTU deubiquinating enzyme 1 homolog ( yeast)"", ""YOD1 OTU deubiquinating enzyme 1 homolog (S. cerevisiae)"""				Standard	NM_001276320		Approved	DKFZp451J1719, OTUD2, DUBA8	uc001hfe.1	Q5VVQ6	OTTHUMG00000036032	ENST00000315927.4:c.504C>T	1.37:g.207222908G>A						YOD1_ENST00000315927.4_Silent_p.V168V|PFKFB2_ENST00000411990.2_5'UTR|YOD1_ENST00000391927.1_Silent_p.V124V	p.V124V	NM_001276320.1	NP_001263249.1	Q5VVQ6	OTU1_HUMAN			4	576	-	Prostate(682;0.19)		168			UBX-like.		B2RNX3|Q5VVQ5|Q6ZRS6|Q86T63|Q9P1L8	Silent	SNP	ENST00000315927.4	37	c.372C>T	CCDS31002.1																																																																																				0.488	YOD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087837.1	NM_018566		20	26	0	0	0	1	0	20	26				
COG4	25839	broad.mit.edu	37	16	70548413	70548413	+	Splice_Site	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr16:70548413C>T	ENST00000323786.5	-	4	391		c.e4-1		COG4_ENST00000564653.1_Splice_Site|COG4_ENST00000393612.4_Splice_Site	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4						Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				AGAGGCGGTTCTGCAAAAAGA	0.433																																						ENST00000323786.5																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33						c.e4-1		component of oligomeric golgi complex 4							71.0	65.0	67.0					16																	70548413		2198	4300	6498	SO:0001630	splice_region_variant	25839				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:70548413C>T	AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"""Components of oligomeric golgi complex"""	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.370-1G>A	16.37:g.70548413C>T						COG4_ENST00000564653.1_Splice_Site|COG4_ENST00000393612.4_Splice_Site		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN			4	391	-		Ovarian(137;0.0694)						B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Splice_Site	SNP	ENST00000323786.5	37		CCDS10892.2	.	.	.	.	.	.	.	.	.	.	C	25.6	4.655420	0.88056	.	.	ENSG00000103051	ENST00000323786;ENST00000338984;ENST00000393612;ENST00000534772	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4155	0.94694	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COG4	69105914	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.190000	0.77755	2.589000	0.87451	0.561000	0.74099	.		0.433	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250326.3		Intron	6	19	0	0	0	1	0	6	19				
PI4KA	5297	broad.mit.edu	37	22	21081548	21081548	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:21081548G>A	ENST00000572273.1	-	41	4967	c.4737C>T	c.(4735-4737)taC>taT	p.Y1579Y	PI4KA_ENST00000414196.3_Silent_p.Y389Y|PI4KA_ENST00000255882.6_Silent_p.Y1637Y|AC007308.6_ENST00000430719.1_RNA			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1579	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CTTTCACCCCGTACTGCGCCG	0.657																																					GBM(136;1332 1831 3115 23601 50806)	ENST00000255882.6																			0				breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79						c.(4909-4911)taC>taT		phosphatidylinositol 4-kinase, catalytic, alpha							41.0	42.0	42.0					22																	21081548		2203	4300	6503	SO:0001819	synonymous_variant	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21081548G>A	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.4737C>T	22.37:g.21081548G>A						PI4KA_ENST00000572273.1_Silent_p.Y1579Y|PI4KA_ENST00000414196.3_Silent_p.Y389Y	p.Y1637Y	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		41	4997	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	1579					Q7Z625|Q9UPG2	Silent	SNP	ENST00000572273.1	37	c.4911C>T																																																																																					0.657	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		15	43	0	0	0	1	0	15	43				
ASAP1	50807	broad.mit.edu	37	8	131172206	131172206	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr8:131172206G>C	ENST00000518721.1	-	12	1141	c.914C>G	c.(913-915)tCt>tGt	p.S305C	ASAP1_ENST00000357668.1_Missense_Mutation_p.S305C	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	305					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CCGGCTCTGAGAATCCTAGGA	0.443																																						ENST00000357668.1																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.(913-915)tCt>tGt		ArfGAP with SH3 domain, ankyrin repeat and PH domain 1							123.0	117.0	119.0					8																	131172206		2203	4300	6503	SO:0001583	missense	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131172206G>C	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.914C>G	8.37:g.131172206G>C	ENSP00000429900:p.Ser305Cys					ASAP1_ENST00000518721.1_Missense_Mutation_p.S305C	p.S305C			Q9ULH1	ASAP1_HUMAN			11	941	-			305					B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.914C>G	CCDS6362.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.1|26.1	4.700484|4.700484	0.88924|0.88924	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000524124|ENST00000343135;ENST00000357668;ENST00000518721;ENST00000524367	.|T;T;T	.|0.52057	.|3.06;3.06;0.68	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	.|0.107170	.|0.64402	.|D	.|0.000003	T|T	0.64271|0.64271	0.2583|0.2583	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.999;0.999;1.0	.|P;P;D	.|0.85130	.|0.846;0.846;0.997	T|T	0.64347|0.64347	-0.6429|-0.6429	5|10	.|0.87932	.|D	.|0	.|.	17.7873|17.7873	0.88542|0.88542	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|305;305;308	.|B2RNV3;Q9ULH1;Q9ULH1-2	.|.;ASAP1_HUMAN;.	L|C	125|308;305;305;275	.|ENSP00000350297:S305C;ENSP00000429900:S305C;ENSP00000430588:S275C	.|ENSP00000344591:S308C	F|S	-|-	3|2	2|0	ASAP1|ASAP1	131241388|131241388	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.905000|0.905000	0.53344|0.53344	9.018000|9.018000	0.93657|0.93657	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	TTC|TCT		0.443	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		9	63	0	0	0	1	0	9	63				
SERPINB7	8710	broad.mit.edu	37	18	61468144	61468144	+	Silent	SNP	C	C	T	rs368022993		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr18:61468144C>T	ENST00000398019.2	+	7	967	c.642C>T	c.(640-642)ttC>ttT	p.F214F	SERPINB7_ENST00000540675.1_Silent_p.F197F|SERPINB7_ENST00000336429.2_Silent_p.F214F|SERPINB7_ENST00000546027.1_Silent_p.F214F	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	214					negative regulation of endopeptidase activity (GO:0010951)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				AACGGAAGTTCAATTTGTCTG	0.408																																						ENST00000398019.2																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27						c.(640-642)ttC>ttT		serpin peptidase inhibitor, clade B (ovalbumin), member 7		C	,	0,4406		0,0,2203	189.0	166.0	174.0		642,642	4.0	1.0	18		174	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SERPINB7	NM_001040147.1,NM_003784.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	214/381,214/381	61468144	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8710				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61468144C>T	AF027866	CCDS11988.1, CCDS58633.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166396	ENSG00000166396		"""Serine (or cysteine) peptidase inhibitors"""	13902	protein-coding gene	gene with protein product		603357	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7"""			24172014	Standard	NM_003784		Approved	MEGSIN	uc002ljl.4	O75635	OTTHUMG00000060591	ENST00000398019.2:c.642C>T	18.37:g.61468144C>T						SERPINB7_ENST00000546027.1_Silent_p.F214F|SERPINB7_ENST00000540675.1_Silent_p.F197F|SERPINB7_ENST00000336429.2_Silent_p.F214F	p.F214F	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN			7	967	+		Esophageal squamous(42;0.129)	214					B4DUW8|F5GZC0|Q1ED45|Q3KPG4	Silent	SNP	ENST00000398019.2	37	c.642C>T	CCDS11988.1																																																																																				0.408	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134007.1	NM_003784		10	73	0	0	0	1	0	10	73				
HVCN1	84329	broad.mit.edu	37	12	111099146	111099146	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:111099146C>G	ENST00000356742.5	-	3	882	c.129G>C	c.(127-129)aaG>aaC	p.K43N	HVCN1_ENST00000242607.8_Missense_Mutation_p.K43N|HVCN1_ENST00000548312.1_Missense_Mutation_p.K43N|HVCN1_ENST00000439744.2_Missense_Mutation_p.K23N			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	43					cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						tctccCATTTCTTGTAGTTGA	0.597																																						ENST00000356742.5																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						c.(127-129)aaG>aaC		hydrogen voltage-gated channel 1							70.0	66.0	68.0					12																	111099146		2203	4300	6503	SO:0001583	missense	84329				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity	g.chr12:111099146C>G	BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986		"""Voltage-gated ion channels / Hydrogen voltage-gated channel"""	28240	protein-coding gene	gene with protein product	"""voltage sensor domain-only protein"""	611227				20961760, 16556803, 18356202, 22020278	Standard	NM_032369		Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000356742.5:c.129G>C	12.37:g.111099146C>G	ENSP00000349181:p.Lys43Asn					HVCN1_ENST00000439744.2_Missense_Mutation_p.K23N|HVCN1_ENST00000548312.1_Missense_Mutation_p.K43N|HVCN1_ENST00000242607.8_Missense_Mutation_p.K43N	p.K43N			Q96D96	HVCN1_HUMAN			3	882	-			43					A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	Missense_Mutation	SNP	ENST00000356742.5	37	c.129G>C	CCDS31900.1	.	.	.	.	.	.	.	.	.	.	c	20.3	3.962380	0.74016	.	.	ENSG00000122986	ENST00000548312;ENST00000242607;ENST00000356742;ENST00000439744;ENST00000546713	T;T;T;T	0.52754	0.65;0.65;0.65;0.7	5.27	4.38	0.52667	.	0.331847	0.32244	N	0.006363	T	0.63534	0.2519	M	0.73962	2.25	0.36772	D	0.883886	D;P	0.69078	0.997;0.879	P;P	0.58520	0.84;0.494	T	0.74731	-0.3566	10	0.72032	D	0.01	-35.7562	14.0037	0.64449	0.0:0.9276:0.0:0.0724	.	43;43	Q96D96;Q96D96-3	HVCN1_HUMAN;.	N	43;43;43;23;43	ENSP00000449601:K43N;ENSP00000242607:K43N;ENSP00000349181:K43N;ENSP00000412052:K23N	ENSP00000242607:K43N	K	-	3	2	HVCN1	109583529	1.000000	0.71417	0.997000	0.53966	0.824000	0.46624	2.384000	0.44362	1.466000	0.48025	-0.389000	0.06534	AAG		0.597	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404653.1	NM_032369		7	65	0	0	0	1	0	7	65				
NEFH	4744	broad.mit.edu	37	22	29886561	29886561	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:29886561G>T	ENST00000310624.6	+	4	2965	c.2932G>T	c.(2932-2934)Gat>Tat	p.D978Y		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	984	Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGCCAAGGAAGATGACAAGAC	0.512																																						ENST00000310624.6																			0				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						c.(2932-2934)Gat>Tat		neurofilament, heavy polypeptide							84.0	85.0	85.0					22																	29886561		2203	4300	6503	SO:0001583	missense	4744				cell death|nervous system development	neurofilament		g.chr22:29886561G>T		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.2932G>T	22.37:g.29886561G>T	ENSP00000311997:p.Asp978Tyr						p.D978Y	NM_021076.3	NP_066554.2	P12036	NFH_HUMAN			4	2965	+			984			Tail.		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	ENST00000310624.6	37	c.2932G>T	CCDS13858.1	.	.	.	.	.	.	.	.	.	.	G	9.717	1.158698	0.21454	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.83506	-1.73	5.51	5.51	0.81932	.	0.388293	0.18142	N	0.150388	T	0.81133	0.4759	L	0.44542	1.39	0.47659	D	0.999489	P	0.47409	0.895	B	0.43575	0.424	D	0.83656	0.0158	10	0.87932	D	0	.	16.9047	0.86123	0.0:0.0:1.0:0.0	.	984	P12036	NFH_HUMAN	Y	929;978	ENSP00000311997:D978Y	ENSP00000311997:D978Y	D	+	1	0	NEFH	28216561	0.998000	0.40836	0.961000	0.40146	0.259000	0.26198	5.638000	0.67861	2.595000	0.87683	0.491000	0.48974	GAT		0.512	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		6	77	1	0	0.00116845	1	0.00120444	6	77				
CNPY4	245812	broad.mit.edu	37	7	99722164	99722164	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:99722164G>C	ENST00000262932.3	+	5	625	c.493G>C	c.(493-495)Gac>Cac	p.D165H	RP11-506M12.1_ENST00000494221.1_RNA|MBLAC1_ENST00000398075.2_5'Flank|CNPY4_ENST00000480692.1_3'UTR	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4	165	Glu-rich.					extracellular region (GO:0005576)				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGAGTTTGAAGACATTGTGGG	0.512																																						ENST00000262932.3																			0				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(493-495)Gac>Cac		canopy FGF signaling regulator 4							105.0	106.0	105.0					7																	99722164		2203	4300	6503	SO:0001583	missense	245812					extracellular region		g.chr7:99722164G>C	AK075537	CCDS34701.1	7q22.1	2013-07-23	2013-07-23		ENSG00000166997	ENSG00000166997			28631	protein-coding gene	gene with protein product	"""protein associated with TLR4"""	610047	"""canopy 4 homolog (zebrafish)"""			12975309	Standard	NM_152755		Approved	MGC40499, PRAT4B	uc003uto.3	Q8N129	OTTHUMG00000154817	ENST00000262932.3:c.493G>C	7.37:g.99722164G>C	ENSP00000262932:p.Asp165His					CNPY4_ENST00000480692.1_3'UTR|RP11-506M12.1_ENST00000494221.1_RNA	p.D165H	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN			5	625	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		165			Glu-rich.		Q8WUN9	Missense_Mutation	SNP	ENST00000262932.3	37	c.493G>C	CCDS34701.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.605970	0.87157	.	.	ENSG00000166997	ENST00000262932	T	0.52526	0.66	5.94	5.94	0.96194	.	0.100555	0.64402	D	0.000002	T	0.62514	0.2434	L	0.46157	1.445	0.54753	D	0.999986	D	0.89917	1.0	D	0.72982	0.979	T	0.61446	-0.7061	10	0.59425	D	0.04	-19.282	15.8634	0.79043	0.0:0.0:1.0:0.0	.	165	Q8N129	CNPY4_HUMAN	H	165	ENSP00000262932:D165H	ENSP00000262932:D165H	D	+	1	0	CNPY4	99560100	1.000000	0.71417	0.996000	0.52242	0.957000	0.61999	7.907000	0.87430	2.826000	0.97356	0.561000	0.74099	GAC		0.512	CNPY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337224.4	NM_152755		12	79	0	0	0	1	0	12	79				
UNC119	9094	broad.mit.edu	37	17	26874818	26874818	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:26874818C>T	ENST00000335765.4	-	4	597	c.487G>A	c.(487-489)Gag>Aag	p.E163K	UNC119_ENST00000301032.4_Missense_Mutation_p.E163K|UNC119_ENST00000470125.1_Missense_Mutation_p.E68K|UNC119_ENST00000484980.1_Missense_Mutation_p.E68K	NM_005148.3	NP_005139.1	Q13432	U119A_HUMAN	unc-119 homolog (C. elegans)	163	Required for centrosome localization.				cytokinesis, completion of separation (GO:0007109)|endocytosis (GO:0006897)|lipoprotein transport (GO:0042953)|negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of clathrin-mediated endocytosis (GO:1900186)|phototransduction (GO:0007602)|positive regulation of protein tyrosine kinase activity (GO:0061098)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	centrosome (GO:0005813)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	lipid binding (GO:0008289)			breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	7	Lung NSC(42;0.00431)					TAGTGCCTCTCGATCATGCGG	0.517											OREG0024277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000484980.1																			0				breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	7						c.(202-204)Gag>Aag		unc-119 homolog (C. elegans)							180.0	163.0	169.0					17																	26874818		2203	4300	6503	SO:0001583	missense	9094				phototransduction|synaptic transmission|visual perception	cytosol|soluble fraction		g.chr17:26874818C>T	U40998	CCDS11233.1, CCDS11234.1	17q11.2	2014-09-17	2001-11-28		ENSG00000109103	ENSG00000109103			12565	protein-coding gene	gene with protein product	"""POC7 centriolar protein homolog A (Chlamydomonas)"""	604011	"""unc119 (C.elegans) homolog"""			8576185, 9538874	Standard	NM_005148		Approved	HRG4, POC7, POC7A	uc002hbk.2	Q13432	OTTHUMG00000132606	ENST00000335765.4:c.487G>A	17.37:g.26874818C>T	ENSP00000337040:p.Glu163Lys		OREG0024277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	790	UNC119_ENST00000335765.4_Missense_Mutation_p.E163K|UNC119_ENST00000470125.1_Missense_Mutation_p.E68K|UNC119_ENST00000301032.4_Missense_Mutation_p.E163K	p.E68K			Q13432	U119A_HUMAN			3	3363	-	Lung NSC(42;0.00431)		163					A8K8G4|F1T095|O95126	Missense_Mutation	SNP	ENST00000335765.4	37	c.202G>A	CCDS11233.1	.	.	.	.	.	.	.	.	.	.	C	36	5.763198	0.96906	.	.	ENSG00000109103	ENST00000335765;ENST00000301032;ENST00000444148	D;D;D	0.84442	-1.66;-1.78;-1.85	5.81	5.81	0.92471	Immunoglobulin E-set (1);	0.000000	0.85682	D	0.000000	D	0.95379	0.8500	H	0.95884	3.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.96175	0.9126	10	0.87932	D	0	-31.1944	20.0787	0.97763	0.0:1.0:0.0:0.0	.	163;163	F1T095;Q13432	.;U119A_HUMAN	K	163;163;156	ENSP00000337040:E163K;ENSP00000301032:E163K;ENSP00000414639:E156K	ENSP00000301032:E163K	E	-	1	0	UNC119	23898945	1.000000	0.71417	0.975000	0.42487	0.978000	0.69477	7.818000	0.86416	2.757000	0.94681	0.462000	0.41574	GAG		0.517	UNC119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255842.2			17	119	0	0	0	1	0	17	119				
LHX9	56956	broad.mit.edu	37	1	197890533	197890533	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:197890533C>G	ENST00000367387.4	+	3	902	c.477C>G	c.(475-477)ttC>ttG	p.F159L	LHX9_ENST00000561173.1_Missense_Mutation_p.F165L|LHX9_ENST00000367391.1_Missense_Mutation_p.F150L|LHX9_ENST00000337020.2_Missense_Mutation_p.F159L|LHX9_ENST00000367390.3_Missense_Mutation_p.F150L	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	159	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						TGAGCTGCTTCACCTGCTCCA	0.597																																						ENST00000367390.3																			0				endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						c.(448-450)ttC>ttG		LIM homeobox 9							70.0	68.0	69.0					1																	197890533		2203	4300	6503	SO:0001583	missense	56956				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:197890533C>G	AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"""Homeoboxes / LIM class"""	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.477C>G	1.37:g.197890533C>G	ENSP00000356357:p.Phe159Leu					LHX9_ENST00000561173.1_Missense_Mutation_p.F165L|LHX9_ENST00000367387.4_Missense_Mutation_p.F159L|LHX9_ENST00000367391.1_Missense_Mutation_p.F150L|LHX9_ENST00000337020.2_Missense_Mutation_p.F159L	p.F150L	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN			4	477	+			159			LIM zinc-binding 2.		Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Missense_Mutation	SNP	ENST00000367387.4	37	c.450C>G	CCDS1393.1	.	.	.	.	.	.	.	.	.	.	C	34	5.370563	0.95900	.	.	ENSG00000143355	ENST00000367391;ENST00000367390;ENST00000337020;ENST00000367387	D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99	6.17	6.17	0.99709	Zinc finger, LIM-type (5);	0.046664	0.85682	D	0.000000	D	0.95671	0.8592	M	0.81614	2.55	0.80722	D	1	P;D;P	0.71674	0.873;0.998;0.917	P;D;P	0.67725	0.685;0.953;0.557	D	0.95510	0.8585	10	0.87932	D	0	.	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	159;150;150	Q9NQ69;Q9NQ69-3;Q9NQ69-2	LHX9_HUMAN;.;.	L	150;150;159;159	ENSP00000356361:F150L;ENSP00000356360:F150L;ENSP00000337969:F159L;ENSP00000356357:F159L	ENSP00000337969:F159L	F	+	3	2	LHX9	196157156	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.772000	0.55325	2.941000	0.99782	0.655000	0.94253	TTC		0.597	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2	NM_020204		4	94	0	0	0	1	0	4	94				
ZMAT5	55954	broad.mit.edu	37	22	30134374	30134374	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:30134374G>C	ENST00000344318.3	-	5	444	c.328C>G	c.(328-330)Ctg>Gtg	p.L110V	ZMAT5_ENST00000397781.3_Missense_Mutation_p.L110V	NM_001003692.1	NP_001003692.1	Q9UDW3	ZMAT5_HUMAN	zinc finger, matrin-type 5	110					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(5;0.000597)|all cancers(5;0.0534)|Epithelial(10;0.0574)			CAGTCCTCCAGATGGCCCTCG	0.642																																						ENST00000397781.3																			0				large_intestine(1)|lung(1)|ovary(1)	3						c.(328-330)Ctg>Gtg		zinc finger, matrin-type 5							63.0	57.0	59.0					22																	30134374		2203	4300	6503	SO:0001583	missense	55954				mRNA processing	cytoplasm|U12-type spliceosomal complex	nucleic acid binding|zinc ion binding	g.chr22:30134374G>C		CCDS13868.1	22q12.2	2013-09-20	2010-09-15		ENSG00000100319	ENSG00000100319		"""Zinc fingers, matrin-type"""	28046	protein-coding gene	gene with protein product	"""U11/U12 snRNP 20K"""					9847074	Standard	NM_019103		Approved	SNRNP20	uc003agn.3	Q9UDW3	OTTHUMG00000151292	ENST00000344318.3:c.328C>G	22.37:g.30134374G>C	ENSP00000344241:p.Leu110Val					ZMAT5_ENST00000344318.3_Missense_Mutation_p.L110V	p.L110V	NM_019103.2	NP_061976.1	Q9UDW3	ZMAT5_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.000597)|all cancers(5;0.0534)|Epithelial(10;0.0574)		6	578	-			110					A8K9F6	Missense_Mutation	SNP	ENST00000344318.3	37	c.328C>G	CCDS13868.1	.	.	.	.	.	.	.	.	.	.	G	4.495	0.091739	0.08632	.	.	ENSG00000100319	ENST00000344318;ENST00000397781	.	.	.	5.0	1.5	0.22942	.	0.287861	0.32503	N	0.006003	T	0.24044	0.0582	L	0.27053	0.805	0.26417	N	0.97616	B	0.17465	0.022	B	0.17433	0.018	T	0.15607	-1.0431	9	0.17369	T	0.5	-6.519	7.241	0.26096	0.0:0.2764:0.483:0.2405	.	110	Q9UDW3	ZMAT5_HUMAN	V	110	.	ENSP00000344241:L110V	L	-	1	2	ZMAT5	28464374	0.451000	0.25705	0.647000	0.29507	0.905000	0.53344	0.503000	0.22610	0.691000	0.31592	-0.430000	0.05897	CTG		0.642	ZMAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322114.1	NM_019103		4	49	0	0	0	1	0	4	49				
GOLGB1	2804	broad.mit.edu	37	3	121414560	121414560	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:121414560C>T	ENST00000340645.5	-	13	4920	c.4795G>A	c.(4795-4797)Gca>Aca	p.A1599T	GOLGB1_ENST00000393667.3_Missense_Mutation_p.A1604T	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1599					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GTACTTTCTGCAATCTTAGAA	0.378																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(4810-4812)Gca>Aca		golgin B1							97.0	101.0	99.0					3																	121414560		2203	4299	6502	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121414560C>T	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.4795G>A	3.37:g.121414560C>T	ENSP00000341848:p.Ala1599Thr					GOLGB1_ENST00000340645.5_Missense_Mutation_p.A1599T	p.A1604T	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	4920	-			1599					B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.4810G>A	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.932347	0.34096	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517	T;T;T	0.23950	2.44;2.43;1.88	5.55	5.55	0.83447	.	0.104097	0.42548	D	0.000696	T	0.42154	0.1190	L	0.55103	1.725	0.34320	D	0.686416	P;D;D;D;P	0.89917	0.946;0.977;1.0;0.977;0.669	P;P;D;P;B	0.87578	0.636;0.787;0.998;0.787;0.19	T	0.43130	-0.9410	10	0.14656	T	0.56	.	12.6999	0.57026	0.0:0.8343:0.1657:0.0	.	1524;1563;1604;1604;1599	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	T	1599;1604;1563	ENSP00000341848:A1599T;ENSP00000377275:A1604T;ENSP00000418231:A1563T	ENSP00000341848:A1599T	A	-	1	0	GOLGB1	122897250	0.923000	0.31300	1.000000	0.80357	0.725000	0.41563	1.762000	0.38451	2.590000	0.87494	0.655000	0.94253	GCA		0.378	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		18	57	0	0	0	1	0	18	57				
APC2	10297	broad.mit.edu	37	19	1460850	1460850	+	Silent	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:1460850C>G	ENST00000535453.1	+	11	3228	c.1515C>G	c.(1513-1515)ctC>ctG	p.L505L	APC2_ENST00000233607.2_Silent_p.L505L|CTB-25B13.12_ENST00000588225.1_RNA|APC2_ENST00000238483.4_Silent_p.L231L			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGAGGAGCTCCACCAGGTAC	0.697																																						ENST00000535453.1																			0				breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18						c.(1513-1515)ctC>ctG		adenomatosis polyposis coli 2							23.0	28.0	26.0					19																	1460850		2200	4294	6494	SO:0001819	synonymous_variant	10297				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding	g.chr19:1460850C>G		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"""Armadillo repeat containing"""	24036	protein-coding gene	gene with protein product	"""adenomatous polyposis coli like"""	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.1515C>G	19.37:g.1460850C>G						APC2_ENST00000238483.4_Silent_p.L231L|APC2_ENST00000233607.2_Silent_p.L505L|CTB-25B13.12_ENST00000588225.1_RNA	p.L505L			O95996	APC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	11	3228	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	505					C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Silent	SNP	ENST00000535453.1	37	c.1515C>G	CCDS12068.1																																																																																				0.697	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		8	38	0	0	0	1	0	8	38				
CCT3	7203	broad.mit.edu	37	1	156281931	156281931	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:156281931G>C	ENST00000295688.3	-	11	1336	c.1056C>G	c.(1054-1056)atC>atG	p.I352M	CCT3_ENST00000368261.3_Missense_Mutation_p.I307M|CCT3_ENST00000472765.2_Missense_Mutation_p.I307M|CCT3_ENST00000368259.2_Missense_Mutation_p.I314M	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	352					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CAATTTTCTTGATTTCCAACA	0.517																																						ENST00000295688.3																			0				endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1054-1056)atC>atG		chaperonin containing TCP1, subunit 3 (gamma)							109.0	120.0	116.0					1																	156281931		2203	4300	6503	SO:0001583	missense	7203				'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding	g.chr1:156281931G>C	BC008019	CCDS1140.2, CCDS30888.1	1q23	2011-09-02			ENSG00000163468	ENSG00000163468		"""Heat Shock Proteins / Chaperonins"""	1616	protein-coding gene	gene with protein product		600114		TRIC5		8110840	Standard	NM_005998		Approved	Cctg	uc001fol.2	P49368	OTTHUMG00000024061	ENST00000295688.3:c.1056C>G	1.37:g.156281931G>C	ENSP00000295688:p.Ile352Met					CCT3_ENST00000368259.2_Missense_Mutation_p.I314M|CCT3_ENST00000368261.3_Missense_Mutation_p.I307M|CCT3_ENST00000472765.2_Missense_Mutation_p.I307M	p.I352M	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN			11	1336	-	Hepatocellular(266;0.158)		352					A6NE14|Q5SZY1|Q9BR64	Missense_Mutation	SNP	ENST00000295688.3	37	c.1056C>G	CCDS1140.2	.	.	.	.	.	.	.	.	.	.	G	14.37	2.514545	0.44763	.	.	ENSG00000163468	ENST00000295688;ENST00000368259;ENST00000368261;ENST00000472765	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.82	3.85	0.44370	.	0.122073	0.56097	D	0.000032	T	0.70307	0.3209	M	0.72479	2.2	0.39725	D	0.971522	B;P;P	0.40834	0.257;0.73;0.576	B;P;P	0.60609	0.096;0.877;0.836	T	0.72663	-0.4225	10	0.49607	T	0.09	-19.3421	9.1725	0.37091	0.0806:0.1477:0.7716:0.0	.	314;351;352	P49368-2;E9PAQ6;P49368	.;.;TCPG_HUMAN	M	352;314;307;307	ENSP00000295688:I352M;ENSP00000357242:I314M;ENSP00000357244:I307M;ENSP00000431543:I307M	ENSP00000295688:I352M	I	-	3	3	CCT3	154548555	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	0.580000	0.23803	1.463000	0.47967	0.643000	0.83706	ATC		0.517	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060602.3	NM_005998		6	65	0	0	0	1	0	6	65				
OTOF	9381	broad.mit.edu	37	2	26725246	26725246	+	Missense_Mutation	SNP	C	C	T	rs111033535		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:26725246C>T	ENST00000272371.2	-	7	758	c.632G>A	c.(631-633)cGg>cAg	p.R211Q	OTOF_ENST00000403946.3_Missense_Mutation_p.R211Q	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	211					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCTCCTAGCCGAATGGCCAG	0.557																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(631-633)cGg>cAg		otoferlin							100.0	81.0	87.0					2																	26725246		2203	4300	6503	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26725246C>T	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.632G>A	2.37:g.26725246C>T	ENSP00000272371:p.Arg211Gln					OTOF_ENST00000403946.3_Missense_Mutation_p.R211Q	p.R211Q	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			7	758	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		211					B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.632G>A	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	C	6.224	0.409548	0.11812	.	.	ENSG00000115155	ENST00000272371;ENST00000403946;ENST00000380499	T;T	0.80033	-1.33;-1.33	5.52	-0.0703	0.13748	.	0.238071	0.40908	N	0.000999	T	0.71500	0.3347	L	0.57536	1.79	0.30573	N	0.763343	B	0.16166	0.016	B	0.08055	0.003	T	0.60652	-0.7221	10	0.13853	T	0.58	-11.8062	11.3689	0.49687	0.0:0.6269:0.0:0.3731	.	211	Q9HC10	OTOF_HUMAN	Q	211;211;95	ENSP00000272371:R211Q;ENSP00000385255:R211Q	ENSP00000272371:R211Q	R	-	2	0	OTOF	26578750	0.987000	0.35691	0.752000	0.31206	0.307000	0.27823	2.080000	0.41586	0.035000	0.15519	-0.140000	0.14226	CGG		0.557	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			4	21	0	0	0	1	0	4	21				
FRMPD4	9758	broad.mit.edu	37	X	12735697	12735697	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:12735697G>A	ENST00000380682.1	+	16	3258	c.2752G>A	c.(2752-2754)Gag>Aag	p.E918K		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	918					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TGAAATGACTGAGAGTTCTGA	0.493																																						ENST00000380682.1																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(2752-2754)Gag>Aag		FERM and PDZ domain containing 4							114.0	107.0	109.0					X																	12735697		2203	4300	6503	SO:0001583	missense	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12735697G>A	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.2752G>A	X.37:g.12735697G>A	ENSP00000370057:p.Glu918Lys						p.E918K	NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN			16	3258	+			918					A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	c.2752G>A	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555560	0.86231	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.09538	2.97	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.36771	0.0979	M	0.73598	2.24	0.47245	D	0.99936	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.06643	-1.0815	10	0.72032	D	0.01	-25.9268	19.1909	0.93666	0.0:0.0:1.0:0.0	.	910;918	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	K	918;909;907	ENSP00000370057:E918K	ENSP00000304583:E907K	E	+	1	0	FRMPD4	12645618	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.360000	0.97119	2.483000	0.83821	0.600000	0.82982	GAG		0.493	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		24	199	0	0	0	1	0	24	199				
OR6C6	283365	broad.mit.edu	37	12	55688184	55688184	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:55688184G>T	ENST00000358433.2	-	1	832	c.833C>A	c.(832-834)tCa>tAa	p.S278*		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AGGGGCAATTGAGGTATAGAG	0.363																																						ENST00000358433.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(832-834)tCa>tAa		olfactory receptor, family 6, subfamily C, member 6							88.0	95.0	93.0					12																	55688184		2203	4300	6503	SO:0001587	stop_gained	283365				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55688184G>T		CCDS31817.1	12q13.13	2012-08-09			ENSG00000188324	ENSG00000188324		"""GPCR / Class A : Olfactory receptors"""	31293	protein-coding gene	gene with protein product							Standard	NM_001005493		Approved		uc010sph.2	A6NF89	OTTHUMG00000168101	ENST00000358433.2:c.833C>A	12.37:g.55688184G>T	ENSP00000351211:p.Ser278*						p.S278*	NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN			1	832	-			278						Nonsense_Mutation	SNP	ENST00000358433.2	37	c.833C>A	CCDS31817.1	.	.	.	.	.	.	.	.	.	.	-	9.442	1.088358	0.20390	.	.	ENSG00000188324	ENST00000358433	.	.	.	4.33	4.33	0.51752	.	0.000000	0.42053	D	0.000776	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.8554	0.18716	0.2445:0.0:0.7554:0.0	.	.	.	.	X	278	.	ENSP00000351211:S278X	S	-	2	0	OR6C6	53974451	0.024000	0.19004	0.275000	0.24674	0.079000	0.17450	2.595000	0.46197	2.407000	0.81776	0.644000	0.83932	TCA		0.363	OR6C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398151.1			11	63	1	0	0.000978159	1	0.00101069	11	63				
PRKCE	5581	broad.mit.edu	37	2	46203651	46203651	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:46203651C>G	ENST00000306156.3	+	3	823	c.496C>G	c.(496-498)Cag>Gag	p.Q166E		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	166					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	CAGGGTCCATCAGGTCAACGG	0.587																																						ENST00000306156.3																		MBOAT2/PRKCE(2)	0				breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34						c.(496-498)Cag>Gag		protein kinase C, epsilon							66.0	75.0	72.0					2																	46203651		2186	4288	6474	SO:0001583	missense	5581				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity	g.chr2:46203651C>G		CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000306156.3:c.496C>G	2.37:g.46203651C>G	ENSP00000306124:p.Gln166Glu						p.Q166E	NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.171)		3	823	+		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	166					B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Missense_Mutation	SNP	ENST00000306156.3	37	c.496C>G	CCDS1824.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.820540	0.32145	.	.	ENSG00000171132	ENST00000306156	D	0.83673	-1.75	4.47	3.59	0.41128	.	0.135233	0.53938	D	0.000053	T	0.73666	0.3616	L	0.48362	1.52	0.80722	D	1	B	0.11235	0.004	B	0.13407	0.009	T	0.64618	-0.6365	10	0.02654	T	1	.	12.8093	0.57631	0.0:0.9202:0.0:0.0798	.	166	Q02156	KPCE_HUMAN	E	166	ENSP00000306124:Q166E	ENSP00000306124:Q166E	Q	+	1	0	PRKCE	46057155	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.755000	0.68750	1.232000	0.43678	0.563000	0.77884	CAG		0.587	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250751.2			29	90	0	0	0	1	0	29	90				
KDM5C	8242	broad.mit.edu	37	X	53222263	53222263	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:53222263C>G	ENST00000375401.3	-	26	5101	c.4569G>C	c.(4567-4569)caG>caC	p.Q1523H	KDM5C_ENST00000452825.3_Intron|KDM5C_ENST00000404049.3_Missense_Mutation_p.Q1522H|KDM5C_ENST00000375383.3_Missense_Mutation_p.Q1479H|KDM5C_ENST00000375379.3_Missense_Mutation_p.Q1520H	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1523					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|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)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CCAAGCCATTCTGGTTCTCCT	0.677			"""N, F, S"""		clear cell renal carcinoma																																	ENST00000375401.3				Rec	yes		X	Xp11.22-p11.21	8242	"""N, F, S"""	lysine (K)-specific demethylase 5C (JARID1C)			E			clear cell renal carcinoma		0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						c.(4567-4569)caG>caC		lysine (K)-specific demethylase 5C							35.0	27.0	29.0					X																	53222263		2201	4293	6494	SO:0001583	missense	8242				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrX:53222263C>G	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.4569G>C	X.37:g.53222263C>G	ENSP00000364550:p.Gln1523His					KDM5C_ENST00000404049.3_Missense_Mutation_p.Q1522H|KDM5C_ENST00000375383.3_Missense_Mutation_p.Q1479H|KDM5C_ENST00000452825.3_Intron|KDM5C_ENST00000375379.3_Missense_Mutation_p.Q1520H	p.Q1523H	NM_004187.3	NP_004178.2	P41229	KDM5C_HUMAN			26	5101	-			1523					B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	c.4569G>C	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	c	16.21	3.057775	0.55325	.	.	ENSG00000126012	ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	D;D;D;D	0.85171	-1.81;-1.81;-1.81;-1.95	4.26	3.38	0.38709	.	0.405736	0.14872	U	0.293492	T	0.77164	0.4090	L	0.38175	1.15	0.80722	D	1	P;P	0.44090	0.826;0.826	B;B	0.38562	0.276;0.276	T	0.72663	-0.4225	10	0.51188	T	0.08	-2.1368	9.4377	0.38648	0.0:0.7875:0.2125:0.0	.	1522;1523	B0QZ44;P41229	.;KDM5C_HUMAN	H	1523;1522;1520;1479	ENSP00000364550:Q1523H;ENSP00000385394:Q1522H;ENSP00000364528:Q1520H;ENSP00000364532:Q1479H	ENSP00000364528:Q1520H	Q	-	3	2	KDM5C	53238988	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.660000	0.37397	0.619000	0.30197	0.407000	0.27541	CAG		0.677	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		3	36	0	0	0	1	0	3	36				
TICRR	90381	broad.mit.edu	37	15	90167617	90167617	+	Nonsense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:90167617C>G	ENST00000268138.7	+	20	4181	c.4076C>G	c.(4075-4077)tCa>tGa	p.S1359*	TICRR_ENST00000560985.1_Nonsense_Mutation_p.S1358*|KIF7_ENST00000558928.1_Intron			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1359	Pro-rich.				cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										CCTGTTCCCTCAACTCCCCCT	0.527																																						ENST00000268138.7																			0											c.(4075-4077)tCa>tGa		TOPBP1-interacting checkpoint and replication regulator							133.0	132.0	133.0					15																	90167617		2200	4299	6499	SO:0001587	stop_gained	90381							g.chr15:90167617C>G	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.4076C>G	15.37:g.90167617C>G	ENSP00000268138:p.Ser1359*					TICRR_ENST00000560985.1_Nonsense_Mutation_p.S1358*|KIF7_ENST00000558928.1_Intron	p.S1359*							20	4181	+								B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Nonsense_Mutation	SNP	ENST00000268138.7	37	c.4076C>G	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	C	40	8.325081	0.98759	.	.	ENSG00000140534	ENST00000268138	.	.	.	4.86	2.97	0.34412	.	0.293748	0.28093	N	0.016637	.	.	.	.	.	.	0.23325	N	0.9979	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-4.3229	10.6643	0.45721	0.0:0.8413:0.0:0.1587	.	.	.	.	X	1359	.	ENSP00000268138:S1359X	S	+	2	0	C15orf42	87968621	0.000000	0.05858	0.012000	0.15200	0.246000	0.25737	0.097000	0.15168	0.569000	0.29329	0.655000	0.94253	TCA		0.527	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		16	110	0	0	0	1	0	16	110				
SPHKAP	80309	broad.mit.edu	37	2	228855726	228855726	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:228855726C>G	ENST00000392056.3	-	11	4995	c.4949G>C	c.(4948-4950)aGa>aCa	p.R1650T	SPHKAP_ENST00000344657.5_Missense_Mutation_p.R1621T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1650						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTTTTCAATTCTGTTTTCCTG	0.453																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(4948-4950)aGa>aCa		SPHK1 interactor, AKAP domain containing							78.0	77.0	78.0					2																	228855726		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228855726C>G		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4949G>C	2.37:g.228855726C>G	ENSP00000375909:p.Arg1650Thr					SPHKAP_ENST00000344657.5_Missense_Mutation_p.R1621T	p.R1650T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	11	4995	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1650					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.4949G>C	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.474022	0.63737	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.06218	3.33;3.33	6.17	5.3	0.74995	A-kinase anchor 110kDa, C-terminal (1);	0.237565	0.47093	D	0.000245	T	0.19005	0.0456	L	0.60455	1.87	0.34737	D	0.730322	D;D	0.71674	0.99;0.998	P;D	0.71656	0.871;0.974	T	0.16070	-1.0415	10	0.56958	D	0.05	.	10.7366	0.46128	0.0:0.8572:0.0:0.1428	.	1650;1621	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	T	1650;1621	ENSP00000375909:R1650T;ENSP00000339886:R1621T	ENSP00000339886:R1621T	R	-	2	0	SPHKAP	228563970	0.992000	0.36948	1.000000	0.80357	0.998000	0.95712	1.732000	0.38146	1.635000	0.50512	0.655000	0.94253	AGA		0.453	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		7	76	0	0	0	1	0	7	76				
ZNF649	65251	broad.mit.edu	37	19	52394225	52394225	+	Silent	SNP	T	T	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:52394225T>C	ENST00000354957.3	-	5	1448	c.1164A>G	c.(1162-1164)ggA>ggG	p.G388G	ZNF649_ENST00000600738.1_Silent_p.G360G|CTC-429C10.2_ENST00000600329.1_RNA|ZNF577_ENST00000485702.1_5'Flank	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	388					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		GTCTAATGAGTCCTGACTTCT	0.433																																						ENST00000354957.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29						c.(1162-1164)ggA>ggG		zinc finger protein 649							115.0	115.0	115.0					19																	52394225		2203	4300	6503	SO:0001819	synonymous_variant	65251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52394225T>C	BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"""Zinc fingers, C2H2-type"", ""-"""	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.1164A>G	19.37:g.52394225T>C						ZNF649_ENST00000600738.1_Silent_p.G360G|CTC-429C10.2_ENST00000600329.1_RNA	p.G388G	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	5	1448	-		all_neural(266;0.0602)	388					A8MYJ5|B2RDC4|Q9H9N2	Silent	SNP	ENST00000354957.3	37	c.1164A>G	CCDS12843.1																																																																																				0.433	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074		14	85	0	0	0	1	0	14	85				
EIF3B	8662	broad.mit.edu	37	7	2395011	2395011	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:2395011C>G	ENST00000360876.4	+	1	511	c.455C>G	c.(454-456)tCc>tGc	p.S152C	EIF3B_ENST00000397011.2_Missense_Mutation_p.S152C	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GACGAGCCCTCCTTCAGCGAC	0.756																																						ENST00000360876.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24						c.(454-456)tCc>tGc		eukaryotic translation initiation factor 3, subunit B							5.0	4.0	4.0					7																	2395011		1702	3433	5135	SO:0001583	missense	8662				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity	g.chr7:2395011C>G	U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"""RNA binding motif (RRM) containing"""	3280	protein-coding gene	gene with protein product		603917	"""eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"""	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.455C>G	7.37:g.2395011C>G	ENSP00000354125:p.Ser152Cys					EIF3B_ENST00000397011.2_Missense_Mutation_p.S152C	p.S152C	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)	1	511	+		Ovarian(82;0.0253)	152			Sufficient for interaction with EIF3E.			Missense_Mutation	SNP	ENST00000360876.4	37	c.455C>G	CCDS5332.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.749932	0.49257	.	.	ENSG00000106263	ENST00000314800;ENST00000360876;ENST00000413917;ENST00000397011;ENST00000489558	T;T;T	0.51325	0.71;0.71;0.71	3.65	3.65	0.41850	.	0.060566	0.64402	D	0.000002	T	0.55768	0.1941	L	0.52905	1.665	0.49213	D	0.999766	D;D	0.76494	0.999;0.997	P;P	0.59825	0.864;0.808	T	0.58994	-0.7537	10	0.72032	D	0.01	-13.0808	9.3978	0.38412	0.0:0.9005:0.0:0.0995	.	113;152	A4D210;P55884	.;EIF3B_HUMAN	C	152;152;113;152;76	ENSP00000354125:S152C;ENSP00000407785:S113C;ENSP00000380206:S152C	ENSP00000316638:S152C	S	+	2	0	EIF3B	2361537	1.000000	0.71417	1.000000	0.80357	0.127000	0.20565	4.895000	0.63214	1.852000	0.53769	0.563000	0.77884	TCC		0.756	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1			3	15	0	0	0	1	0	3	15				
SLC6A12	6539	broad.mit.edu	37	12	307135	307135	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:307135G>T	ENST00000428720.1	-	9	1624	c.881C>A	c.(880-882)tCc>tAc	p.S294Y	SLC6A12_ENST00000536824.1_Missense_Mutation_p.S294Y|SLC6A12_ENST00000424061.2_Missense_Mutation_p.S294Y|SLC6A12_ENST00000538272.1_5'UTR|SLC6A12_ENST00000359674.4_Missense_Mutation_p.S294Y|SLC6A12_ENST00000397296.2_Missense_Mutation_p.S294Y	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	294					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GATGGCAAAGGAGAAGAAGAT	0.587																																						ENST00000428720.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26						c.(880-882)tCc>tAc		solute carrier family 6 (neurotransmitter transporter), member 12							84.0	92.0	89.0					12																	307135		2203	4300	6503	SO:0001583	missense	6539				cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:307135G>T	L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"""Solute carriers"""	11045	protein-coding gene	gene with protein product	"""betaine/GABA transporter-1"""	603080	"""solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"""			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.881C>A	12.37:g.307135G>T	ENSP00000388184:p.Ser294Tyr					SLC6A12_ENST00000397296.2_Missense_Mutation_p.S294Y|SLC6A12_ENST00000536824.1_Missense_Mutation_p.S294Y|SLC6A12_ENST00000359674.4_Missense_Mutation_p.S294Y|SLC6A12_ENST00000538272.1_5'UTR|SLC6A12_ENST00000424061.2_Missense_Mutation_p.S294Y	p.S294Y	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00227)		9	1624	-	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		294					A0AV52|B2R992|D3DUN8	Missense_Mutation	SNP	ENST00000428720.1	37	c.881C>A	CCDS8501.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.521722	0.64747	.	.	ENSG00000111181	ENST00000359674;ENST00000397296;ENST00000428720;ENST00000424061;ENST00000536824	T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44	3.95	3.05	0.35203	.	0.000000	0.85682	D	0.000000	D	0.94351	0.8184	H	0.99884	4.89	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94881	0.8039	10	0.87932	D	0	.	11.8977	0.52665	0.0863:0.0:0.9137:0.0	.	294	P48065	S6A12_HUMAN	Y	294	ENSP00000352702:S294Y;ENSP00000380464:S294Y;ENSP00000388184:S294Y;ENSP00000399136:S294Y;ENSP00000444268:S294Y	ENSP00000352702:S294Y	S	-	2	0	SLC6A12	177396	1.000000	0.71417	0.997000	0.53966	0.931000	0.56810	7.535000	0.82014	0.866000	0.35629	0.561000	0.74099	TCC		0.587	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206671.2	NM_003044		5	116	1	0	1.024e-07	1	1.09445e-07	5	116				
TECPR2	9895	broad.mit.edu	37	14	102906847	102906847	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:102906847C>T	ENST00000359520.7	+	11	2879	c.2653C>T	c.(2653-2655)Cgg>Tgg	p.R885W	TECPR2_ENST00000558678.1_Missense_Mutation_p.R885W	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	885					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CAAGGGGAAGCGGCACTGGTA	0.517																																						ENST00000359520.7																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						c.(2653-2655)Cgg>Tgg		tectonin beta-propeller repeat containing 2							74.0	78.0	77.0					14																	102906847		2203	4300	6503	SO:0001583	missense	9895						protein binding	g.chr14:102906847C>T	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.2653C>T	14.37:g.102906847C>T	ENSP00000352510:p.Arg885Trp					TECPR2_ENST00000558678.1_Missense_Mutation_p.R885W	p.R885W	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN			11	2879	+			885					A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	37	c.2653C>T	CCDS32162.1	.	.	.	.	.	.	.	.	.	.	C	32	5.141515	0.94560	.	.	ENSG00000196663	ENST00000359520	T	0.80480	-1.38	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.86213	0.5879	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.991;0.991;0.998	D	0.86445	0.1769	10	0.72032	D	0.01	.	20.5632	0.99335	0.0:1.0:0.0:0.0	.	68;885;885	B4DSD3;A5PKY3;O15040	.;.;TCPR2_HUMAN	W	885	ENSP00000352510:R885W	ENSP00000352510:R885W	R	+	1	2	TECPR2	101976600	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.311000	0.43717	2.937000	0.99478	0.650000	0.86243	CGG		0.517	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		11	80	0	0	0	1	0	11	80				
PDIA3	2923	broad.mit.edu	37	15	44036385	44036385	+	5'Flank	SNP	T	T	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:44036385T>C	ENST00000300289.5	+	0	0				CATSPER2P1_ENST00000381680.2_RNA|PDIA3_ENST00000538521.1_5'Flank	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3						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)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein N-linked glycosylation via asparagine (GO:0018279)|protein retention in ER lumen (GO:0006621)|proteolysis (GO:0006508)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|phospholipase C activity (GO:0004629)|poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		TTCAAAAAGATCAGGAAGATG	0.423																																						ENST00000381680.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr15:44036385T>C		CCDS10101.1	15q15	2009-11-20	2005-06-29	2005-03-03	ENSG00000167004	ENSG00000167004	5.3.4.1	"""Protein disulfide isomerases"""	4606	protein-coding gene	gene with protein product		602046	"""glucose regulated protein, 58kDa"", ""protein disulfide isomerase-associated 3"""	GRP58		8974399	Standard	NM_005313		Approved	P58, ERp61, ERp57, ERp60, GRP57, PI-PLC, HsT17083	uc001zsu.3	P30101	OTTHUMG00000044444		15.37:g.44036385T>C	Exception_encountered							NR_002318.2						0	578	-								Q13453|Q14255|Q8IYF8|Q9UMU7	RNA	SNP	ENST00000300289.5	37		CCDS10101.1																																																																																				0.423	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103532.3	NM_005313		10	40	0	0	0	1	0	10	40				
PAPPA2	60676	broad.mit.edu	37	1	176525515	176525515	+	Silent	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:176525515C>G	ENST00000367662.3	+	2	1221	c.57C>G	c.(55-57)ctC>ctG	p.L19L	PAPPA2_ENST00000367661.3_Silent_p.L19L	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	19					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGTGGGCACTCTGTTCTGCCA	0.507																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(55-57)ctC>ctG		pappalysin 2							102.0	104.0	103.0					1																	176525515		2020	4194	6214	SO:0001819	synonymous_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176525515C>G	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.57C>G	1.37:g.176525515C>G						PAPPA2_ENST00000367661.3_Silent_p.L19L	p.L19L	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			2	1221	+			19					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	c.57C>G	CCDS41438.1																																																																																				0.507	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			8	161	0	0	0	1	0	8	161				
TTN	7273	broad.mit.edu	37	2	179411742	179411742	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:179411742G>C	ENST00000591111.1	-	290	89811	c.89587C>G	c.(89587-89589)Caa>Gaa	p.Q29863E	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Q31504E|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q28936E|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q22564E|TTN_ENST00000460472.2_Missense_Mutation_p.Q22439E|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q22631E			Q8WZ42	TITIN_HUMAN	titin	29863	Fibronectin type-III 117. {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)			ACTGGATTTTGAGCCATTATA	0.363																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(94510-94512)Caa>Gaa		titin							162.0	156.0	158.0					2																	179411742		1894	4116	6010	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179411742G>C	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.89587C>G	2.37:g.179411742G>C	ENSP00000465570:p.Gln29863Glu					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q22631E|TTN_ENST00000342992.6_Missense_Mutation_p.Q28936E|TTN_ENST00000591111.1_Missense_Mutation_p.Q29863E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q22564E|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q22439E|TTN-AS1_ENST00000590932.1_RNA	p.Q31504E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		340	94734	-			29863			Ig-like 140.		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.94510C>G		.	.	.	.	.	.	.	.	.	.	G	13.41	2.228694	0.39399	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.97	5.97	0.96955	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39708	0.1088	N	0.16743	0.435	0.80722	D	1	P;P;P;P	0.50066	0.931;0.931;0.931;0.931	B;B;B;B	0.42462	0.388;0.388;0.388;0.388	T	0.41858	-0.9485	9	0.87932	D	0	.	20.4214	0.99039	0.0:0.0:1.0:0.0	.	22439;22564;22631;29863	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	28936;22439;22631;22564;22436	ENSP00000343764:Q28936E;ENSP00000434586:Q22439E;ENSP00000340554:Q22631E;ENSP00000352154:Q22564E	ENSP00000340554:Q22631E	Q	-	1	0	TTN	179119988	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.954000	0.87848	2.820000	0.97059	0.655000	0.94253	CAA		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		19	113	0	0	0	1	0	19	113				
PJA2	9867	broad.mit.edu	37	5	108704338	108704338	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:108704338C>A	ENST00000361189.2	-	5	1632	c.1393G>T	c.(1393-1395)Gat>Tat	p.D465Y	PJA2_ENST00000361557.3_Missense_Mutation_p.D465Y	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	465					long-term memory (GO:0007616)|protein ubiquitination (GO:0016567)|regulation of protein kinase A signaling (GO:0010738)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		TCATTCTCATCTTTTCCTGGC	0.423																																						ENST00000361189.2																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1393-1395)Gat>Tat		praja ring finger 2, E3 ubiquitin protein ligase							170.0	171.0	170.0					5																	108704338		2202	4300	6502	SO:0001583	missense	9867				long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding	g.chr5:108704338C>A	AB007898	CCDS4099.1	5q22.1	2013-01-09	2012-02-23	2003-06-05	ENSG00000198961	ENSG00000198961		"""RING-type (C3HC4) zinc fingers"""	17481	protein-coding gene	gene with protein product			"""ring finger protein 131"", ""praja ring finger 2"""	RNF131			Standard	NM_014819		Approved	KIAA0438, Neurodap1	uc003kos.4	O43164	OTTHUMG00000128750	ENST00000361189.2:c.1393G>T	5.37:g.108704338C>A	ENSP00000354775:p.Asp465Tyr					PJA2_ENST00000361557.3_Missense_Mutation_p.D465Y	p.D465Y	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)	5	1632	-		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)	465					A8K6U4|D3DSZ5|Q68D49|Q8N1G5	Missense_Mutation	SNP	ENST00000361189.2	37	c.1393G>T	CCDS4099.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639339	0.67244	.	.	ENSG00000198961	ENST00000361189;ENST00000361557	T;T	0.05996	3.36;3.36	5.39	5.39	0.77823	.	0.143821	0.48286	D	0.000184	T	0.20333	0.0489	L	0.53249	1.67	0.46458	D	0.999051	D	0.89917	1.0	D	0.72982	0.979	T	0.00014	-1.2403	10	0.87932	D	0	-31.3992	14.7387	0.69437	0.0:0.8564:0.1436:0.0	.	465	O43164	PJA2_HUMAN	Y	465	ENSP00000354775:D465Y;ENSP00000355284:D465Y	ENSP00000354775:D465Y	D	-	1	0	PJA2	108732237	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.501000	0.53325	2.809000	0.96659	0.467000	0.42956	GAT		0.423	PJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250663.1	NM_014819		15	53	1	0	7.93312e-07	1	8.41685e-07	15	53				
FDXACB1	91893	broad.mit.edu	37	11	111747359	111747359	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:111747359G>C	ENST00000260257.4	-	4	585	c.538C>G	c.(538-540)Caa>Gaa	p.Q180E	ALG9_ENST00000527377.1_5'UTR|C11orf1_ENST00000528125.1_5'Flank|C11orf1_ENST00000260276.3_5'Flank|ALG9_ENST00000524880.1_Missense_Mutation_p.Q180E|C11orf1_ENST00000530214.1_5'Flank|FDXACB1_ENST00000542429.1_Missense_Mutation_p.Q31E	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	180					phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA processing (GO:0008033)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						GACTTATCTTGACTCCTGGCA	0.388																																						ENST00000524880.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(538-540)Caa>Gaa		ALG9, alpha-1,2-mannosyltransferase							73.0	70.0	71.0					11																	111747359		1879	4111	5990	SO:0001583	missense	79796				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	g.chr11:111747359G>C		CCDS44729.1	11q23.1	2011-04-15			ENSG00000255561	ENSG00000255561			25110	protein-coding gene	gene with protein product	"""hypothetical protein BC006136"""						Standard	NR_038364		Approved	LOC91893, hCG_2033039	uc001pmc.4	Q9BRP7	OTTHUMG00000166795	ENST00000260257.4:c.538C>G	11.37:g.111747359G>C	ENSP00000260257:p.Gln180Glu					FDXACB1_ENST00000542429.1_Missense_Mutation_p.Q31E|FDXACB1_ENST00000260257.4_Missense_Mutation_p.Q180E|ALG9_ENST00000527377.1_5'UTR	p.Q180E			Q9H6U8	ALG9_HUMAN		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)	4	830	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	0					A0PJW7|B4DUU2	Missense_Mutation	SNP	ENST00000260257.4	37	c.538C>G	CCDS44729.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.064717	0.76187	.	.	ENSG00000086848;ENSG00000255561;ENSG00000255561;ENSG00000255561	ENST00000428306;ENST00000260257;ENST00000542429;ENST00000528274	T;T;T	0.75704	0.27;-0.96;0.74	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.86855	0.6033	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.86471	0.1785	10	0.59425	D	0.04	.	20.2983	0.98569	0.0:0.0:1.0:0.0	.	180	Q9BRP7	FDXA1_HUMAN	E	180;180;31;91	ENSP00000260257:Q180E;ENSP00000441304:Q31E;ENSP00000435572:Q91E	ENSP00000387627:Q180E	Q	-	1	0	FDXACB1;ALG9	111252569	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.230000	0.78097	2.802000	0.96397	0.655000	0.94253	CAA		0.388	FDXACB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391497.1	NM_138378		5	47	0	0	0	1	0	5	47				
PPP2R1A	5518	broad.mit.edu	37	19	52714679	52714679	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:52714679C>T	ENST00000322088.6	+	4	495	c.437C>T	c.(436-438)tCg>tTg	p.S146L	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.S91L|PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000473455.2_3'UTR	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	146	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		TCCCGCACCTCGGCCTGCGGC	0.652			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6				Dom?	yes		19	19q13.41	5518	Mis	"""protein phosphatase 2, regulatory subunit A, alpha"""			E			clear cell ovarian carcinoma		0				NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(436-438)tCg>tTg		protein phosphatase 2, regulatory subunit A, alpha							51.0	54.0	53.0					19																	52714679		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52714679C>T		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.437C>T	19.37:g.52714679C>T	ENSP00000324804:p.Ser146Leu					PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.S91L|PPP2R1A_ENST00000473455.2_3'UTR	p.S146L	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	4	495	+			146			PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.437C>T	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.792570	0.90453	.	.	ENSG00000105568	ENST00000423369;ENST00000322088;ENST00000444322	T;T	0.05580	3.42;3.42	4.58	4.58	0.56647	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.52532	D	0.000073	T	0.37489	0.1005	H	0.96460	3.825	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.951;0.951	T	0.55509	-0.8130	10	0.87932	D	0	-10.9036	15.2851	0.73822	0.0:1.0:0.0:0.0	.	91;146;146	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	L	136;146;91	ENSP00000324804:S146L;ENSP00000415067:S91L	ENSP00000324804:S146L	S	+	2	0	PPP2R1A	57406491	1.000000	0.71417	0.956000	0.39512	0.636000	0.38137	6.833000	0.75334	2.547000	0.85894	0.655000	0.94253	TCG		0.652	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		11	90	0	0	0	1	0	11	90				
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		5	22	0	0	0	1	0	5	22				
CBLB	868	broad.mit.edu	37	3	105438994	105438994	+	Missense_Mutation	SNP	C	C	G	rs116474782		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:105438994C>G	ENST00000264122.4	-	10	1625	c.1304G>C	c.(1303-1305)tGt>tCt	p.C435S	CBLB_ENST00000405772.1_Missense_Mutation_p.C435S|CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000394027.3_Missense_Mutation_p.C457S|CBLB_ENST00000403724.1_Missense_Mutation_p.C435S	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	435					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GATGCTGCAACACCTGGAGCC	0.512			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	ENST00000264122.4				Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						c.(1303-1305)tGt>tCt		Cbl proto-oncogene B, E3 ubiquitin protein ligase							116.0	98.0	104.0					3																	105438994		2203	4300	6503	SO:0001583	missense	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105438994C>G	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.1304G>C	3.37:g.105438994C>G	ENSP00000264122:p.Cys435Ser					CBLB_ENST00000394027.3_Missense_Mutation_p.C457S|CBLB_ENST00000403724.1_Missense_Mutation_p.C435S|CBLB_ENST00000405772.1_Missense_Mutation_p.C435S|CBLB_ENST00000545639.1_3'UTR	p.C435S	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN			10	1625	-			435					A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	37	c.1304G>C	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.343583	0.82022	.	.	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772	D;D;D;D	0.83506	-1.72;-1.71;-1.72;-1.73	6.03	6.03	0.97812	.	0.168326	0.64402	D	0.000006	D	0.88503	0.6454	L	0.45581	1.43	0.80722	D	1	D;D;B	0.62365	0.985;0.991;0.063	P;P;B	0.61874	0.787;0.895;0.119	D	0.88389	0.3007	10	0.87932	D	0	-11.5667	20.5753	0.99366	0.0:1.0:0.0:0.0	.	457;435;435	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	S	435;457;435;435	ENSP00000264122:C435S;ENSP00000377595:C457S;ENSP00000384816:C435S;ENSP00000384938:C435S	ENSP00000264122:C435S	C	-	2	0	CBLB	106921684	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.625000	0.54238	2.868000	0.98415	0.557000	0.71058	TGT		0.512	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		5	30	0	0	0	1	0	5	30				
MBD5	55777	broad.mit.edu	37	2	149241016	149241016	+	Intron	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:149241016G>C	ENST00000407073.1	+	10	3842				MBD5_ENST00000404807.1_Missense_Mutation_p.E952D	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5						glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GCAAGTCTGAGATCAACCTCC	0.453																																						ENST00000404807.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62						c.(2854-2856)gaG>gaC		methyl-CpG binding domain protein 5							69.0	72.0	71.0					2																	149241016		2203	4300	6503	SO:0001627	intron_variant	0					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149241016G>C	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.2845+11G>C	2.37:g.149241016G>C						MBD5_ENST00000407073.1_Intron	p.E952D			Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	5	2985	+			957					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	c.2856G>C	CCDS33302.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.36|13.36	2.215298|2.215298	0.39102|0.39102	.|.	.|.	ENSG00000204406|ENSG00000204406	ENST00000404807|ENST00000416015	T|.	0.47177|.	0.85|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	.|.	.|.	.|.	.|.	T|T	0.69717|0.69717	0.3142|0.3142	.|.	.|.	.|.	0.34761|0.34761	D|D	0.732737|0.732737	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.73968|0.73968	-0.3815|-0.3815	5|4	.|.	.|.	.|.	-4.6888|-4.6888	18.5553|18.5553	0.91081|0.91081	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	D|T	952|692	ENSP00000384672:E952D|.	.|.	E|R	+|+	3|2	2|0	MBD5|MBD5	148957486|148957486	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.668000|6.668000	0.74457|0.74457	2.817000|2.817000	0.96982|0.96982	0.563000|0.563000	0.77884|0.77884	GAG|AGA		0.453	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			10	71	0	0	0	1	0	10	71				
PGBD5	79605	broad.mit.edu	37	1	230459297	230459297	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:230459297G>C	ENST00000525115.1	-	7	1265	c.1242C>G	c.(1240-1242)atC>atG	p.I414M	PGBD5_ENST00000530424.1_5'UTR|PGBD5_ENST00000321327.2_Missense_Mutation_p.I513M|PGBD5_ENST00000391860.1_Missense_Mutation_p.I368M			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	414						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		AGGCATTGTTGATGGCGATGC	0.517																																						ENST00000321327.2																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33						c.(1537-1539)atC>atG		piggyBac transposable element derived 5							157.0	145.0	149.0					1																	230459297		2203	4300	6503	SO:0001583	missense	79605					integral to membrane		g.chr1:230459297G>C	AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.1242C>G	1.37:g.230459297G>C	ENSP00000431404:p.Ile414Met					PGBD5_ENST00000530424.1_5'UTR|PGBD5_ENST00000525115.1_Missense_Mutation_p.I414M|PGBD5_ENST00000391860.1_Missense_Mutation_p.I368M	p.I513M			Q8N414	PGBD5_HUMAN		GBM - Glioblastoma multiforme(131;0.201)	9	1538	-	Breast(184;0.0397)	Prostate(94;0.167)	414					A0PJF3|B9EK58|Q5SR37|Q6PJN2	Missense_Mutation	SNP	ENST00000525115.1	37	c.1539C>G		.	.	.	.	.	.	.	.	.	.	G	13.54	2.268043	0.40095	.	.	ENSG00000177614	ENST00000391860;ENST00000321327;ENST00000525115	T;T;T	0.19105	2.17;2.17;2.17	5.72	5.72	0.89469	.	0.560008	0.18119	N	0.151108	T	0.26159	0.0638	N	0.12182	0.205	0.50313	D	0.999863	P;D	0.62365	0.782;0.991	P;P	0.62740	0.678;0.906	T	0.03993	-1.0986	10	0.40728	T	0.16	-39.6768	13.8616	0.63564	0.0:0.0:0.7456:0.2544	.	414;104	Q8N414;B4DM72	PGBD5_HUMAN;.	M	368;513;414	ENSP00000375733:I368M;ENSP00000322530:I513M;ENSP00000431404:I414M	ENSP00000322530:I513M	I	-	3	3	PGBD5	228525920	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	3.646000	0.54396	2.708000	0.92522	0.650000	0.86243	ATC		0.517	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382617.1	NM_024554		15	111	0	0	0	1	0	15	111				
ZNF821	55565	broad.mit.edu	37	16	71898077	71898077	+	Silent	SNP	G	G	A	rs189263731		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr16:71898077G>A	ENST00000565601.1	-	5	788	c.381C>T	c.(379-381)tgC>tgT	p.C127C	ZNF821_ENST00000313565.6_Silent_p.C85C|ATXN1L_ENST00000569119.1_Intron|ZNF821_ENST00000564134.1_Silent_p.C126C|ZNF821_ENST00000564943.1_5'UTR|ZNF821_ENST00000425432.1_Silent_p.C127C|ZNF821_ENST00000446827.2_Silent_p.C85C	NM_001201553.1	NP_001188482.1	O75541	ZN821_HUMAN	zinc finger protein 821	127					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						CCCGGCTCCCGCAGTCTAGCT	0.532													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19018	0.0		0.0	False		,,,				2504	0.0					ENST00000425432.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						c.(379-381)tgC>tgT		zinc finger protein 821							91.0	94.0	93.0					16																	71898077		2198	4300	6498	SO:0001819	synonymous_variant	55565				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:71898077G>A	AF070588	CCDS32481.1, CCDS56006.1, CCDS73911.1	16q22.3	2008-05-02				ENSG00000102984		"""Zinc fingers, C2H2-type"""	28043	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_017530		Approved		uc021tlb.1	O75541		ENST00000565601.1:c.381C>T	16.37:g.71898077G>A						RP11-498D10.4_ENST00000569119.1_Intron|ZNF821_ENST00000564943.1_5'UTR|ZNF821_ENST00000313565.6_Silent_p.C85C|ZNF821_ENST00000446827.2_Silent_p.C85C|ZNF821_ENST00000565601.1_Silent_p.C127C|ZNF821_ENST00000564134.1_Silent_p.C126C|RP11-498D10.4_ENST00000568581.1_Intron	p.C127C	NM_001201552.1	NP_001188481.1	O75541	ZN821_HUMAN			6	760	-			127					A6NK48|B4DKK4|D3DWS3	Silent	SNP	ENST00000565601.1	37	c.381C>T	CCDS56006.1																																																																																				0.532	ZNF821-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434180.1	NM_017530		13	71	0	0	0	1	0	13	71				
IPO13	9670	broad.mit.edu	37	1	44426880	44426880	+	Missense_Mutation	SNP	A	A	G	rs117692141		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:44426880A>G	ENST00000372343.3	+	14	2952	c.2290A>G	c.(2290-2292)Att>Gtt	p.I764V		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	764					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CTTTCCCCCAATTGAGGCCCT	0.587																																						ENST00000372343.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(2290-2292)Att>Gtt		importin 13		A	VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	315.0	281.0	292.0		2290	4.2	1.0	1	dbSNP_133	292	2,8598	2.2+/-6.3	0,2,4298	yes	missense	IPO13	NM_014652.3	29	0,3,6500	GG,GA,AA		0.0233,0.0227,0.0231	benign	764/964	44426880	3,13003	2203	4300	6503	SO:0001583	missense	9670				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr1:44426880A>G	AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.2290A>G	1.37:g.44426880A>G	ENSP00000361418:p.Ile764Val						p.I764V	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN			14	2952	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	764					D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	ENST00000372343.3	37	c.2290A>G	CCDS503.1	.	.	.	.	.	.	.	.	.	.	A	10.58	1.391140	0.25118	2.27E-4	2.33E-4	ENSG00000117408	ENST00000372343	T	0.68181	-0.31	5.33	4.2	0.49525	Armadillo-like helical (1);Armadillo-type fold (1);	0.049046	0.85682	N	0.000000	T	0.52306	0.1726	L	0.46157	1.445	0.58432	D	0.999998	B	0.28605	0.217	B	0.19666	0.026	T	0.43893	-0.9363	10	0.07482	T	0.82	-14.3237	11.0802	0.48055	0.9278:0.0:0.0722:0.0	.	764	O94829	IPO13_HUMAN	V	764	ENSP00000361418:I764V	ENSP00000361418:I764V	I	+	1	0	IPO13	44199467	1.000000	0.71417	0.983000	0.44433	0.990000	0.78478	5.195000	0.65131	1.043000	0.40175	0.533000	0.62120	ATT		0.587	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652		37	358	0	0	0	1	0	37	358				
HPS6	79803	broad.mit.edu	37	10	103825882	103825882	+	Silent	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:103825882C>G	ENST00000299238.5	+	1	736	c.651C>G	c.(649-651)ctC>ctG	p.L217L		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	217					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		ACGTTCTACTCATCTGGAGCC	0.622									Hermansky-Pudlak syndrome																													ENST00000299238.5																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11						c.(649-651)ctC>ctG		Hermansky-Pudlak syndrome 6							55.0	56.0	56.0					10																	103825882		2203	4300	6503	SO:0001819	synonymous_variant	79803	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol|early endosome membrane|endoplasmic reticulum|microsome		g.chr10:103825882C>G	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.651C>G	10.37:g.103825882C>G							p.L217L	NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)	1	736	+		Colorectal(252;0.122)	217					Q5VV69|Q9H685	Silent	SNP	ENST00000299238.5	37	c.651C>G	CCDS7527.1																																																																																				0.622	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050018.2	NM_024747		23	58	0	0	0	1	0	23	58				
C1QTNF9	338872	broad.mit.edu	37	13	24895247	24895247	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr13:24895247C>T	ENST00000382071.2	+	4	428	c.343C>T	c.(343-345)Cga>Tga	p.R115*	C1QTNF9-AS1_ENST00000449656.1_RNA|C1QTNF9_ENST00000332018.4_Nonsense_Mutation_p.R115*			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	115	Collagen-like 2.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		GAAGGGCCTCCGAGGAGAGAC	0.602																																						ENST00000382071.2																			0				endometrium(1)|kidney(2)|lung(6)	9						c.(343-345)Cga>Tga		C1q and tumor necrosis factor related protein 9							31.0	17.0	23.0					13																	24895247		1946	3132	5078	SO:0001587	stop_gained	338872					collagen	hormone activity	g.chr13:24895247C>T	BC040438	CCDS9306.1	13q12.12	2010-08-18			ENSG00000240654	ENSG00000240654			28732	protein-coding gene	gene with protein product		614285				12975309, 18787108	Standard	NM_178540		Approved	MGC48915, CTRP9, C1QTNF9A, AQL1	uc001upj.3	P0C862	OTTHUMG00000016576	ENST00000382071.2:c.343C>T	13.37:g.24895247C>T	ENSP00000371503:p.Arg115*					C1QTNF9_ENST00000332018.4_Nonsense_Mutation_p.R115*|C1QTNF9-AS1_ENST00000449656.1_RNA	p.R115*			P0C862	C1T9A_HUMAN		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)	4	428	+		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	115			Collagen-like 2.		A2A3T6|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Nonsense_Mutation	SNP	ENST00000382071.2	37	c.343C>T	CCDS9306.1	.	.	.	.	.	.	.	.	.	.	N	8.671	0.902732	0.17760	.	.	ENSG00000240654	ENST00000382071;ENST00000332018	.	.	.	4.1	-1.29	0.09288	.	0.629833	0.16057	N	0.231668	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.073	0.64872	0.3998:0.6002:0.0:0.0	.	.	.	.	X	115	.	.	R	+	1	2	C1QTNF9	23793247	0.006000	0.16342	0.000000	0.03702	0.029000	0.11900	1.660000	0.37397	-0.286000	0.09076	0.536000	0.68110	CGA		0.602	C1QTNF9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044177.1	NM_178540		17	50	0	0	0	1	0	17	50				
SPON2	10417	broad.mit.edu	37	4	1165191	1165191	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:1165191C>G	ENST00000290902.5	-	3	636	c.304G>C	c.(304-306)Gag>Cag	p.E102Q	SPON2_ENST00000431380.1_Missense_Mutation_p.E102Q	NM_012445.3	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	102	Spondin. {ECO:0000255|PROSITE- ProRule:PRU00364}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		GCCCAGGCCTCGCCGCGCTCC	0.701																																						ENST00000290902.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9						c.(304-306)Gag>Cag		spondin 2, extracellular matrix protein							24.0	27.0	26.0					4																	1165191		2183	4267	6450	SO:0001583	missense	10417				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding	g.chr4:1165191C>G	AB027466	CCDS3347.1	4p16.3	2008-07-29			ENSG00000159674	ENSG00000159674			11253	protein-coding gene	gene with protein product	"""Mindin"", ""M-spondin"""	605918				10512675, 15094111	Standard	NM_012445		Approved	DIL1	uc003gco.4	Q9BUD6	OTTHUMG00000089002	ENST00000290902.5:c.304G>C	4.37:g.1165191C>G	ENSP00000290902:p.Glu102Gln					SPON2_ENST00000431380.1_Missense_Mutation_p.E102Q	p.E102Q	NM_012445.3	NP_036577.1	Q9BUD6	SPON2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)	3	636	-			102			Spondin.		D3DVN9|Q4W5N4|Q9ULW1	Missense_Mutation	SNP	ENST00000290902.5	37	c.304G>C	CCDS3347.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.526710	0.64860	.	.	ENSG00000159674	ENST00000290902;ENST00000431380;ENST00000503765	T;T;T	0.44881	0.91;0.91;0.91	4.5	4.5	0.54988	Spondin, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.58623	0.2135	M	0.63843	1.955	0.80722	D	1	D;D;D	0.71674	0.993;0.997;0.998	P;P;D	0.63793	0.893;0.743;0.918	T	0.56817	-0.7916	10	0.29301	T	0.29	.	16.7743	0.85547	0.0:1.0:0.0:0.0	.	102;102;102	D6RB12;D3DVN9;Q9BUD6	.;.;SPON2_HUMAN	Q	102	ENSP00000290902:E102Q;ENSP00000394832:E102Q;ENSP00000424542:E102Q	ENSP00000290902:E102Q	E	-	1	0	SPON2	1155191	1.000000	0.71417	0.974000	0.42286	0.111000	0.19643	7.011000	0.76359	2.053000	0.61076	0.511000	0.50034	GAG		0.701	SPON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202080.2			7	38	0	0	0	1	0	7	38				
ZDBF2	57683	broad.mit.edu	37	2	207173234	207173234	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:207173234G>C	ENST00000374423.3	+	5	4368	c.3982G>C	c.(3982-3984)Gaa>Caa	p.E1328Q		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1328							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CAGTGATTCTGAAATAATTTA	0.383																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(3982-3984)Gaa>Caa		zinc finger, DBF-type containing 2							50.0	49.0	49.0					2																	207173234		1844	4077	5921	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207173234G>C	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.3982G>C	2.37:g.207173234G>C	ENSP00000363545:p.Glu1328Gln						p.E1328Q	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	4368	+			1328					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.3982G>C	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.478676	0.26511	.	.	ENSG00000204186	ENST00000374423	T	0.48522	0.81	4.22	0.267	0.15622	.	.	.	.	.	T	0.44603	0.1301	M	0.65975	2.015	0.09310	N	1	P	0.49783	0.928	P	0.45343	0.477	T	0.35126	-0.9801	9	0.54805	T	0.06	.	4.1052	0.10033	0.2967:0.1727:0.5306:0.0	.	1328	Q9HCK1	ZDBF2_HUMAN	Q	1328	ENSP00000363545:E1328Q	ENSP00000363545:E1328Q	E	+	1	0	ZDBF2	206881479	0.002000	0.14202	0.001000	0.08648	0.542000	0.35054	-0.101000	0.10973	0.028000	0.15324	0.650000	0.86243	GAA		0.383	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		5	42	0	0	0	1	0	5	42				
MYO5C	55930	broad.mit.edu	37	15	52511996	52511996	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:52511996G>C	ENST00000261839.7	-	31	3906	c.3745C>G	c.(3745-3747)Cag>Gag	p.Q1249E		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1249						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CGATGTAACTGATTAGACAAT	0.378																																						ENST00000261839.7																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(3745-3747)Cag>Gag		myosin VC							130.0	112.0	118.0					15																	52511996		1887	4108	5995	SO:0001583	missense	55930					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr15:52511996G>C	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.3745C>G	15.37:g.52511996G>C	ENSP00000261839:p.Gln1249Glu						p.Q1249E	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN		all cancers(107;0.0137)	31	3906	-			1249					Q6P1W8	Missense_Mutation	SNP	ENST00000261839.7	37	c.3745C>G	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	G	1.694	-0.503346	0.04261	.	.	ENSG00000128833	ENST00000261839	D	0.88354	-2.37	4.7	3.77	0.43336	.	1.189710	0.05780	N	0.608383	T	0.77903	0.4200	N	0.08118	0	0.31589	N	0.654198	B	0.02656	0.0	B	0.01281	0.0	T	0.59188	-0.7501	10	0.02654	T	1	.	13.2359	0.59969	0.0:0.1598:0.8402:0.0	.	1249	Q9NQX4	MYO5C_HUMAN	E	1249	ENSP00000261839:Q1249E	ENSP00000261839:Q1249E	Q	-	1	0	MYO5C	50299288	0.834000	0.29399	0.012000	0.15200	0.434000	0.31775	3.138000	0.50570	1.296000	0.44742	0.655000	0.94253	CAG		0.378	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		9	19	0	0	0	1	0	9	19				
CLCN1	1180	broad.mit.edu	37	7	143028681	143028681	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:143028681C>G	ENST00000343257.2	+	10	1189	c.1102C>G	c.(1102-1104)Ctg>Gtg	p.L368V		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	368					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.L368V(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					ATTTGTGTATCTGCATCGCCA	0.473																																						ENST00000343257.2																			1	Substitution - Missense(1)	p.L368V(1)	breast(1)	breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(1102-1104)Ctg>Gtg		chloride channel, voltage-sensitive 1							134.0	119.0	124.0					7																	143028681		2203	4300	6503	SO:0001583	missense	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143028681C>G	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.1102C>G	7.37:g.143028681C>G	ENSP00000339867:p.Leu368Val						p.L368V	NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN			10	1189	+	Melanoma(164;0.205)		368					A4D2H5|Q2M202	Missense_Mutation	SNP	ENST00000343257.2	37	c.1102C>G	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.853853	0.32791	.	.	ENSG00000188037	ENST00000343257	D	0.95035	-3.59	5.12	2.32	0.28847	Chloride channel, core (2);	0.141955	0.48767	N	0.000170	D	0.90473	0.7016	M	0.62088	1.915	0.42496	D	0.992913	B	0.17038	0.02	B	0.25291	0.059	T	0.80982	-0.1139	10	0.32370	T	0.25	.	2.0531	0.03575	0.1394:0.5032:0.135:0.2224	.	368	P35523	CLCN1_HUMAN	V	368	ENSP00000339867:L368V	ENSP00000339867:L368V	L	+	1	2	CLCN1	142738803	0.197000	0.23362	0.967000	0.41034	0.997000	0.91878	0.708000	0.25719	0.198000	0.20407	0.637000	0.83480	CTG		0.473	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		7	62	0	0	0	1	0	7	62				
SDE2	163859	broad.mit.edu	37	1	226173095	226173095	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:226173095G>A	ENST00000272091.7	-	7	1282	c.1264C>T	c.(1264-1266)Cgg>Tgg	p.R422W		NM_152608.3	NP_689821.3	Q6IQ49	SDE2_HUMAN	SDE2 telomere maintenance homolog (S. pombe)	422								p.R422W(1)|p.R410W(1)									CTTGCTGCCCGCTCCTGCAGA	0.502																																						ENST00000272091.7																			2	Substitution - Missense(2)	p.R422W(1)|p.R410W(1)	lung(2)								c.(1264-1266)Cgg>Tgg		SDE2 telomere maintenance homolog (S. pombe)							97.0	97.0	97.0					1																	226173095		1919	4123	6042	SO:0001583	missense	163859							g.chr1:226173095G>A	BC071563	CCDS41473.1	1q42.12	2012-06-26	2012-06-26	2012-06-26	ENSG00000143751	ENSG00000143751			26643	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 55"""	C1orf55		21333630	Standard	NM_152608		Approved	FLJ35382	uc001hpu.4	Q6IQ49	OTTHUMG00000037504	ENST00000272091.7:c.1264C>T	1.37:g.226173095G>A	ENSP00000272091:p.Arg422Trp					SDE2_ENST00000366817.1_Missense_Mutation_p.R327W	p.R422W	NM_152608.3	NP_689821.3					7	1282	-								A8K4P3|Q5TD36|Q6ZS26|Q8NAG7	Missense_Mutation	SNP	ENST00000272091.7	37	c.1264C>T	CCDS41473.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972636	0.74246	.	.	ENSG00000143751	ENST00000272091;ENST00000366818;ENST00000366817	T;D	0.86097	-0.98;-2.07	5.67	3.6	0.41247	.	0.000000	0.85682	D	0.000000	D	0.93766	0.8007	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95385	0.8476	10	0.87932	D	0	-20.5424	15.3003	0.73945	0.0:0.0:0.6812:0.3188	.	422	Q6IQ49	CA055_HUMAN	W	422;410;327	ENSP00000272091:R422W;ENSP00000355782:R327W	ENSP00000272091:R422W	R	-	1	2	C1orf55	224239718	1.000000	0.71417	0.994000	0.49952	0.944000	0.59088	3.321000	0.51999	1.390000	0.46547	0.591000	0.81541	CGG		0.502	SDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091310.1	NM_152608		7	84	0	0	0	1	0	7	84				
PDZD8	118987	broad.mit.edu	37	10	119043585	119043585	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:119043585C>G	ENST00000334464.5	-	5	2898	c.2659G>C	c.(2659-2661)Gag>Cag	p.E887Q	PDZD8_ENST00000482496.1_5'Flank	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	887					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		ACAGAAGTCTCAGCTAGACAC	0.433																																						ENST00000334464.5																			0				kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38						c.(2659-2661)Gag>Cag		PDZ domain containing 8							79.0	73.0	75.0					10																	119043585		2203	4300	6503	SO:0001583	missense	118987				intracellular signal transduction		metal ion binding	g.chr10:119043585C>G	AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.2659G>C	10.37:g.119043585C>G	ENSP00000334642:p.Glu887Gln						p.E887Q	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN		all cancers(201;0.0121)	5	2898	-		Colorectal(252;0.19)	887					Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	ENST00000334464.5	37	c.2659G>C	CCDS7600.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848101	0.71603	.	.	ENSG00000165650	ENST00000334464	D	0.84589	-1.87	5.52	5.52	0.82312	Protein kinase C-like, phorbol ester/diacylglycerol binding (2);	0.000000	0.85682	D	0.000000	D	0.89287	0.6672	L	0.35854	1.095	0.58432	D	0.999997	D	0.76494	0.999	D	0.75020	0.985	D	0.89262	0.3598	10	0.51188	T	0.08	-17.8691	19.43	0.94760	0.0:1.0:0.0:0.0	.	887	Q8NEN9	PDZD8_HUMAN	Q	887	ENSP00000334642:E887Q	ENSP00000334642:E887Q	E	-	1	0	PDZD8	119033575	1.000000	0.71417	0.963000	0.40424	0.980000	0.70556	7.818000	0.86416	2.590000	0.87494	0.563000	0.77884	GAG		0.433	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791		8	53	0	0	0	1	0	8	53				
TMEM43	79188	broad.mit.edu	37	3	14177406	14177406	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:14177406G>C	ENST00000306077.4	+	10	1134	c.880G>C	c.(880-882)Gag>Cag	p.E294Q	RP11-434D12.1_ENST00000608606.1_Missense_Mutation_p.R39T	NM_024334.2	NP_077310.1	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	294					nuclear membrane organization (GO:0071763)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						CTTCTCAGCAGAGGTGAGTGC	0.552																																						ENST00000306077.4																			0				breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						c.(880-882)Gag>Cag		transmembrane protein 43							99.0	86.0	90.0					3																	14177406		2203	4300	6503	SO:0001583	missense	79188					endoplasmic reticulum|Golgi apparatus|integral to membrane|nuclear inner membrane		g.chr3:14177406G>C	BC008054	CCDS2618.1	3p25.1	2014-09-17			ENSG00000170876	ENSG00000170876			28472	protein-coding gene	gene with protein product		612048	"""arrhythmogenic right ventricular dysplasia 5"""	ARVD5		11230166, 18313022	Standard	NM_024334		Approved	MGC3222, DKFZp586G1919, LUMA	uc003byk.2	Q9BTV4	OTTHUMG00000129802	ENST00000306077.4:c.880G>C	3.37:g.14177406G>C	ENSP00000303992:p.Glu294Gln						p.E294Q	NM_024334.2	NP_077310.1	Q9BTV4	TMM43_HUMAN			10	1134	+			294					Q7L4N5|Q8NC30|Q96A63|Q96F19|Q96JX0|Q9H076	Missense_Mutation	SNP	ENST00000306077.4	37	c.880G>C	CCDS2618.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.183767	0.57800	.	.	ENSG00000170876	ENST00000306077	T	0.36699	1.24	5.69	5.69	0.88448	.	0.054879	0.64402	D	0.000001	T	0.36082	0.0954	N	0.25286	0.73	0.51482	D	0.999922	D;B	0.52996	0.957;0.204	P;B	0.50490	0.642;0.111	T	0.09443	-1.0674	10	0.52906	T	0.07	-27.3837	15.2972	0.73919	0.0:0.1395:0.8605:0.0	.	224;294	Q8TEP9;Q9BTV4	.;TMM43_HUMAN	Q	294	ENSP00000303992:E294Q	ENSP00000303992:E294Q	E	+	1	0	TMEM43	14152407	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	3.020000	0.49643	2.691000	0.91804	0.591000	0.81541	GAG		0.552	TMEM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252030.2	NM_024334		5	68	0	0	0	1	0	5	68				
RAC1	5879	broad.mit.edu	37	7	6441993	6441993	+	Silent	SNP	C	C	T	rs61753123	byFrequency	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:6441993C>T	ENST00000348035.4	+	6	708	c.495C>T	c.(493-495)ctC>ctT	p.L165L	RAC1_ENST00000356142.4_Silent_p.L184L|RAC1_ENST00000488373.1_3'UTR	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	165					actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|anatomical structure arrangement (GO:0048532)|anatomical structure morphogenesis (GO:0009653)|apoptotic signaling pathway (GO:0097190)|auditory receptor cell morphogenesis (GO:0002093)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell adhesion (GO:0007155)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|cerebral cortex radially oriented cell migration (GO:0021799)|cochlea morphogenesis (GO:0090103)|dendrite morphogenesis (GO:0048813)|dopaminergic neuron differentiation (GO:0071542)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|engulfment of apoptotic cell (GO:0043652)|epithelial cell morphogenesis (GO:0003382)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor signaling pathway (GO:0007186)|hyperosmotic response (GO:0006972)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|mast cell chemotaxis (GO:0002551)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of receptor-mediated endocytosis (GO:0048261)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA replication (GO:0045740)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein localization to plasma membrane (GO:0072659)|regulation of cell migration (GO:0030334)|regulation of defense response to virus by virus (GO:0050690)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|response to wounding (GO:0009611)|ruffle assembly (GO:0097178)|ruffle organization (GO:0031529)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell costimulation (GO:0031295)|viral process (GO:0016032)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GDP-dissociation inhibitor binding (GO:0051022)|thioesterase binding (GO:0031996)			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Dextromethorphan(DB00514)	AGCGAGGCCTCAAGACAGTGT	0.547																																						ENST00000348035.4																			0				cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(493-495)ctC>ctT		ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	Pravastatin(DB00175)|Simvastatin(DB00641)						123.0	103.0	110.0					7																	6441993		2203	4300	6503	SO:0001819	synonymous_variant	5879				actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	g.chr7:6441993C>T	AJ132695	CCDS5348.1, CCDS5349.1	7p22	2014-01-30			ENSG00000136238	ENSG00000136238		"""Endogenous ligands"""	9801	protein-coding gene	gene with protein product		602048				2674130, 10597294	Standard	NM_006908		Approved	TC-25, p21-Rac1, Rac-1	uc003spw.3	P63000	OTTHUMG00000023540	ENST00000348035.4:c.495C>T	7.37:g.6441993C>T						RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Silent_p.L184L	p.L165L	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	6	708	+		Ovarian(82;0.0776)	165					O95501|P15154|Q3Y4D3|Q5JAA8|Q9BTB4	Silent	SNP	ENST00000348035.4	37	c.495C>T	CCDS5348.1																																																																																				0.547	RAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242868.2	NM_018890		7	92	0	0	0	1	0	7	92				
L3MBTL3	84456	broad.mit.edu	37	6	130392265	130392265	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:130392265G>A	ENST00000529410.1	+	15	1716	c.1237G>A	c.(1237-1239)Gac>Aac	p.D413N	L3MBTL3_ENST00000368139.2_Missense_Mutation_p.D388N|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.D413N|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.D388N|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.D388N|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.D413N			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	413					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		TGAGAGCTATGACTATTGGTG	0.343																																						ENST00000529410.1																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43						c.(1237-1239)Gac>Aac		l(3)mbt-like 3 (Drosophila)							221.0	214.0	217.0					6																	130392265		2203	4300	6503	SO:0001583	missense	84456				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr6:130392265G>A	AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"""Sterile alpha motif (SAM) domain containing"""	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.1237G>A	6.37:g.130392265G>A	ENSP00000431962:p.Asp413Asn					L3MBTL3_ENST00000533560.1_Missense_Mutation_p.D388N|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.D388N|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.D413N|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.D388N|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.D413N	p.D413N			Q96JM7	LMBL3_HUMAN		GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)	15	1716	+			413					Q4VXE1|Q5VUM9|Q6P9B5	Missense_Mutation	SNP	ENST00000529410.1	37	c.1237G>A	CCDS34537.1	.	.	.	.	.	.	.	.	.	.	G	36	5.657867	0.96734	.	.	ENSG00000198945	ENST00000529410;ENST00000533560;ENST00000361794;ENST00000368139;ENST00000526019;ENST00000368136	T;T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3;0.3	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.80954	0.4723	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.83156	-0.0101	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	388;413	Q96JM7-2;Q96JM7	.;LMBL3_HUMAN	N	413;388;413;388;388;413	ENSP00000431962:D413N;ENSP00000437185:D388N;ENSP00000354526:D413N;ENSP00000357121:D388N;ENSP00000436706:D388N;ENSP00000357118:D413N	ENSP00000354526:D413N	D	+	1	0	L3MBTL3	130433958	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GAC		0.343	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2	XM_027074		16	135	0	0	0	1	0	16	135				
MGA	23269	broad.mit.edu	37	15	42021388	42021388	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:42021388C>T	ENST00000570161.1	+	10	3684	c.3684C>T	c.(3682-3684)gtC>gtT	p.V1228V	MGA_ENST00000566586.1_Silent_p.V1228V|MGA_ENST00000545763.1_Silent_p.V1228V|MGA_ENST00000219905.7_Silent_p.V1228V|MGA_ENST00000389936.4_Silent_p.V1228V			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.V1228V(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AAGATCCAGTCTACTTGTACT	0.408																																						ENST00000219905.7																			1	Substitution - coding silent(1)	p.V1228V(1)	ovary(1)	NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(3682-3684)gtC>gtT		MGA, MAX dimerization protein							90.0	87.0	88.0					15																	42021388		1885	4108	5993	SO:0001819	synonymous_variant	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42021388C>T	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.3684C>T	15.37:g.42021388C>T						MGA_ENST00000566586.1_Silent_p.V1228V|MGA_ENST00000545763.1_Silent_p.V1228V|MGA_ENST00000570161.1_Silent_p.V1228V|MGA_ENST00000389936.4_Silent_p.V1228V	p.V1228V	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	11	3865	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	1228					Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000570161.1	37	c.3684C>T	CCDS55959.1																																																																																				0.408	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		5	14	0	0	0	1	0	5	14				
FER1L6	654463	broad.mit.edu	37	8	125076587	125076587	+	Splice_Site	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr8:125076587G>T	ENST00000522917.1	+	26	3534		c.e26-1		FER1L6_ENST00000399018.1_Splice_Site|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6							integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTTCATTTCAGATATTTCAGA	0.507																																						ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.e26-1		fer-1-like 6 (C. elegans)							90.0	96.0	94.0					8																	125076587		2002	4178	6180	SO:0001630	splice_region_variant	654463					integral to membrane		g.chr8:125076587G>T	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.3329-1G>T	8.37:g.125076587G>T						FER1L6_ENST00000399018.1_Splice_Site|FER1L6-AS2_ENST00000520031.1_RNA		NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		26	3534	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)								Splice_Site	SNP	ENST00000522917.1	37		CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	7.017	0.558033	0.13436	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	.	.	.	4.62	1.79	0.24919	.	.	.	.	.	.	.	.	.	.	.	0.20489	N	0.999891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.1221	0.06395	0.0969:0.1759:0.5452:0.182	.	.	.	.	.	-1	.	.	.	+	.	.	FER1L6	125145768	0.005000	0.15991	0.000000	0.03702	0.001000	0.01503	0.643000	0.24750	0.178000	0.19917	-0.521000	0.04368	.		0.507	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112	Intron	17	107	1	0	4.14922e-12	1	4.53495e-12	17	107				
AVEN	57099	broad.mit.edu	37	15	34159950	34159950	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:34159950G>A	ENST00000306730.3	-	5	848	c.719C>T	c.(718-720)cCc>cTc	p.P240L	RP11-3D4.2_ENST00000560268.1_RNA|AVEN_ENST00000558136.1_5'Flank	NM_020371.2	NP_065104.1	Q9NQS1	AVEN_HUMAN	apoptosis, caspase activation inhibitor	240					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	intracellular (GO:0005622)|membrane (GO:0016020)				cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		CTCAAAGATGGGCCCCCTTCC	0.547																																						ENST00000306730.3																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7						c.(718-720)cCc>cTc		apoptosis, caspase activation inhibitor							59.0	60.0	60.0					15																	34159950		2201	4298	6499	SO:0001583	missense	57099				anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding	g.chr15:34159950G>A	AF283508	CCDS10030.1	15q13.1	2011-10-19		2008-07-07	ENSG00000169857	ENSG00000169857			13509	protein-coding gene	gene with protein product	"""cell death regulator aven"", ""programmed cell death 12"""	605265				10949025	Standard	XM_005254563		Approved	PDCD12	uc001zhj.3	Q9NQS1	OTTHUMG00000129371	ENST00000306730.3:c.719C>T	15.37:g.34159950G>A	ENSP00000306822:p.Pro240Leu						p.P240L	NM_020371.2	NP_065104.1	Q9NQS1	AVEN_HUMAN		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)	5	848	-		all_lung(180;1.78e-08)	240						Missense_Mutation	SNP	ENST00000306730.3	37	c.719C>T	CCDS10030.1	.	.	.	.	.	.	.	.	.	.	G	11.35	1.612897	0.28712	.	.	ENSG00000169857	ENST00000306730	T	0.47177	0.85	4.43	4.43	0.53597	.	0.539028	0.18726	N	0.132873	T	0.26231	0.0640	N	0.08118	0	0.09310	N	0.999999	B	0.10296	0.003	B	0.13407	0.009	T	0.07252	-1.0782	10	0.28530	T	0.3	-0.0828	10.1125	0.42572	0.1016:0.0:0.8984:0.0	.	240	Q9NQS1	AVEN_HUMAN	L	240	ENSP00000306822:P240L	ENSP00000306822:P240L	P	-	2	0	AVEN	31947242	0.227000	0.23707	0.011000	0.14972	0.020000	0.10135	4.013000	0.57138	2.747000	0.94245	0.543000	0.68304	CCC		0.547	AVEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251523.2	NM_020371		6	84	0	0	0	1	0	6	84				
RUSC2	9853	broad.mit.edu	37	9	35560367	35560367	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr9:35560367G>C	ENST00000455600.1	+	10	4299	c.3730G>C	c.(3730-3732)Gaa>Caa	p.E1244Q	FAM166B_ENST00000492890.1_5'Flank	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1244	Poly-Glu.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			ggaagaggaagaagaggagac	0.687																																						ENST00000455600.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(3730-3732)Gaa>Caa		RUN and SH3 domain containing 2							22.0	28.0	26.0					9																	35560367		2198	4288	6486	SO:0001583	missense	9853					cytosol		g.chr9:35560367G>C	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.3730G>C	9.37:g.35560367G>C	ENSP00000393922:p.Glu1244Gln						p.E1244Q	NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		10	4299	+			1244			Poly-Glu.		A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	c.3730G>C	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.549600	0.27652	.	.	ENSG00000198853	ENST00000361226;ENST00000455600	T;T	0.22134	1.97;1.97	4.86	4.86	0.63082	.	0.767401	0.10599	U	0.655835	T	0.15003	0.0362	N	0.14661	0.345	0.22620	N	0.998929	B	0.30824	0.296	B	0.29942	0.109	T	0.17319	-1.0373	10	0.18710	T	0.47	-5.3993	16.5402	0.84383	0.0:0.0:1.0:0.0	.	1244	Q8N2Y8	RUSC2_HUMAN	Q	1244	ENSP00000355177:E1244Q;ENSP00000393922:E1244Q	ENSP00000355177:E1244Q	E	+	1	0	RUSC2	35550367	0.001000	0.12720	0.207000	0.23584	0.890000	0.51754	-0.132000	0.10467	2.261000	0.74972	0.561000	0.74099	GAA		0.687	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		9	30	0	0	0	1	0	9	30				
MUC21	394263	broad.mit.edu	37	6	30955308	30955308	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:30955308G>A	ENST00000376296.3	+	2	1597	c.1356G>A	c.(1354-1356)ctG>ctA	p.L452L	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	452					cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CAGCAGCTCTGACTGGAATGC	0.577																																						ENST00000376296.3																			0				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(1354-1356)ctG>ctA		mucin 21, cell surface associated							122.0	116.0	118.0					6																	30955308		2203	4300	6503	SO:0001819	synonymous_variant	394263					integral to membrane|plasma membrane		g.chr6:30955308G>A	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.1356G>A	6.37:g.30955308G>A						MUC21_ENST00000486149.2_5'UTR	p.L452L	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN			2	1597	+			452					B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Silent	SNP	ENST00000376296.3	37	c.1356G>A	CCDS34388.1																																																																																				0.577	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		8	160	0	0	0	1	0	8	160				
VPS16	64601	broad.mit.edu	37	20	2844651	2844651	+	Silent	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:2844651G>T	ENST00000380445.3	+	16	1605	c.1533G>T	c.(1531-1533)ctG>ctT	p.L511L	VPS16_ENST00000380469.3_Silent_p.L367L|VPS16_ENST00000380443.3_Silent_p.L197L|VPS16_ENST00000481812.2_3'UTR|PTPRA_ENST00000380393.3_5'Flank	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	511					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						ACCAGAAGCTGGGGGACACGC	0.582																																						ENST00000380445.3																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						c.(1531-1533)ctG>ctT		vacuolar protein sorting 16 homolog (S. cerevisiae)							95.0	91.0	92.0					20																	2844651		2203	4300	6503	SO:0001819	synonymous_variant	64601				intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		g.chr20:2844651G>T	AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.1533G>T	20.37:g.2844651G>T						VPS16_ENST00000481812.2_3'UTR|VPS16_ENST00000380469.3_Silent_p.L367L|VPS16_ENST00000380443.3_Silent_p.L197L	p.L511L	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN			16	1605	+			511					Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Silent	SNP	ENST00000380445.3	37	c.1533G>T	CCDS13036.1																																																																																				0.582	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575		5	135	1	0	1.23904e-05	1	1.28943e-05	5	135				
OR10K1	391109	broad.mit.edu	37	1	158435818	158435818	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:158435818C>T	ENST00000289451.2	+	1	547	c.467C>T	c.(466-468)tCc>tTc	p.S156F		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TTCACTGTCTCCCTGGTCACC	0.532																																						ENST00000289451.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27						c.(466-468)tCc>tTc		olfactory receptor, family 10, subfamily K, member 1							205.0	190.0	195.0					1																	158435818		2203	4300	6503	SO:0001583	missense	391109				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158435818C>T	AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"""GPCR / Class A : Olfactory receptors"""	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.467C>T	1.37:g.158435818C>T	ENSP00000289451:p.Ser156Phe						p.S156F	NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN			1	547	+	all_hematologic(112;0.0378)		156					Q6IFS2	Missense_Mutation	SNP	ENST00000289451.2	37	c.467C>T	CCDS30897.1	.	.	.	.	.	.	.	.	.	.	c	7.737	0.700466	0.15106	.	.	ENSG00000173285	ENST00000289451	T	0.44881	0.91	4.5	3.59	0.41128	GPCR, rhodopsin-like superfamily (1);	0.589593	0.14171	N	0.336758	T	0.46946	0.1419	M	0.70903	2.155	0.09310	N	1	D	0.57899	0.981	D	0.63192	0.912	T	0.34675	-0.9819	10	0.66056	D	0.02	.	11.7973	0.52108	0.0:0.9121:0.0:0.0879	.	156	Q8NGX5	O10K1_HUMAN	F	156	ENSP00000289451:S156F	ENSP00000289451:S156F	S	+	2	0	OR10K1	156702442	0.000000	0.05858	0.004000	0.12327	0.009000	0.06853	0.105000	0.15333	1.108000	0.41662	-0.226000	0.12346	TCC		0.532	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1			22	203	0	0	0	1	0	22	203				
MAD1L1	8379	broad.mit.edu	37	7	2188795	2188795	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:2188795G>A	ENST00000406869.1	-	11	1622	c.1065C>T	c.(1063-1065)gtC>gtT	p.V355V	MAD1L1_ENST00000265854.7_Silent_p.V355V|MAD1L1_ENST00000402746.1_Silent_p.V263V|MAD1L1_ENST00000399654.2_Silent_p.V355V			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	355					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		ACCTGCTGGTGACGGCGCTGT	0.582																																						ENST00000406869.1																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36						c.(1063-1065)gtC>gtT		MAD1 mitotic arrest deficient-like 1 (yeast)							83.0	93.0	90.0					7																	2188795		2120	4233	6353	SO:0001819	synonymous_variant	8379				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	g.chr7:2188795G>A	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.1065C>T	7.37:g.2188795G>A						MAD1L1_ENST00000265854.7_Silent_p.V355V|MAD1L1_ENST00000402746.1_Silent_p.V263V|MAD1L1_ENST00000399654.2_Silent_p.V355V	p.V355V			Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	11	1622	-		Ovarian(82;0.0272)	355					B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Silent	SNP	ENST00000406869.1	37	c.1065C>T	CCDS43539.1																																																																																				0.582	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		5	45	0	0	0	1	0	5	45				
FAM53C	51307	broad.mit.edu	37	5	137682488	137682488	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:137682488C>G	ENST00000239906.5	+	5	1447	c.1019C>G	c.(1018-1020)tCt>tGt	p.S340C	FAM53C_ENST00000434981.2_Missense_Mutation_p.S340C|FAM53C_ENST00000513056.1_3'UTR|RP11-256P1.1_ENST00000504539.1_RNA	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	340										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCACCCCTCTCTGCTTCCTGC	0.622																																						ENST00000239906.5																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1018-1020)tCt>tGt		family with sequence similarity 53, member C							37.0	41.0	40.0					5																	137682488		2203	4300	6503	SO:0001583	missense	51307							g.chr5:137682488C>G	AF251040	CCDS4204.1	5q31	2008-02-05	2004-11-24	2004-11-26	ENSG00000120709	ENSG00000120709			1336	protein-coding gene	gene with protein product		609372	"""chromosome 5 open reading frame 6"""	C5orf6		11087669, 11161817	Standard	NM_001135647		Approved		uc003lcv.3	Q9NYF3	OTTHUMG00000129201	ENST00000239906.5:c.1019C>G	5.37:g.137682488C>G	ENSP00000239906:p.Ser340Cys					FAM53C_ENST00000513056.1_3'UTR|FAM53C_ENST00000434981.2_Missense_Mutation_p.S340C	p.S340C	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		5	1447	+			340					B2RDJ5|D3DQB9	Missense_Mutation	SNP	ENST00000239906.5	37	c.1019C>G	CCDS4204.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.371414	0.24771	.	.	ENSG00000120709	ENST00000434981;ENST00000239906	T;T	0.46819	0.86;0.86	5.19	5.19	0.71726	.	0.420659	0.25532	N	0.030026	T	0.32704	0.0838	N	0.16478	0.41	0.80722	D	1	B	0.13594	0.008	B	0.06405	0.002	T	0.08452	-1.0721	10	0.42905	T	0.14	-7.9776	13.3786	0.60754	0.0:0.8417:0.1583:0.0	.	340	Q9NYF3	FA53C_HUMAN	C	340	ENSP00000403705:S340C;ENSP00000239906:S340C	ENSP00000239906:S340C	S	+	2	0	FAM53C	137710387	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.164000	0.50770	2.687000	0.91594	0.655000	0.94253	TCT		0.622	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251278.2	NM_016605		9	61	0	0	0	1	0	9	61				
SPAG17	200162	broad.mit.edu	37	1	118629493	118629493	+	Splice_Site	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:118629493C>A	ENST00000336338.5	-	11	1563		c.e11+1			NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17							cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GGCTATCTGACCTTTTTCTCC	0.458																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.e11+1		sperm associated antigen 17							127.0	122.0	124.0					1																	118629493		2203	4300	6503	SO:0001630	splice_region_variant	200162					cilium|flagellar axoneme|microtubule		g.chr1:118629493C>A		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.1497+1G>T	1.37:g.118629493C>A								NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	11	1563	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)						Q8NAZ1|Q9NT21	Splice_Site	SNP	ENST00000336338.5	37		CCDS899.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.530812	0.64860	.	.	ENSG00000155761	ENST00000336338	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1168	0.86691	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SPAG17	118431016	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	5.006000	0.63978	2.655000	0.90218	0.655000	0.94253	.		0.458	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996	Intron	33	105	1	0	8.16721e-17	1	8.97155e-17	33	105				
FBN3	84467	broad.mit.edu	37	19	8176535	8176535	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:8176535C>T	ENST00000600128.1	-	32	4495	c.4081G>A	c.(4081-4083)Gaa>Aaa	p.E1361K	FBN3_ENST00000601739.1_Missense_Mutation_p.E1361K|FBN3_ENST00000270509.2_Missense_Mutation_p.E1361K			Q75N90	FBN3_HUMAN	fibrillin 3	1361	EGF-like 20; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ATCTCACCTTCGCAGAAGAAG	0.642																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(4081-4083)Gaa>Aaa		fibrillin 3							22.0	23.0	23.0					19																	8176535		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8176535C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.4081G>A	19.37:g.8176535C>T	ENSP00000470498:p.Glu1361Lys					FBN3_ENST00000270509.2_Missense_Mutation_p.E1361K|FBN3_ENST00000601739.1_Missense_Mutation_p.E1361K	p.E1361K			Q75N90	FBN3_HUMAN			32	4495	-			1361			EGF-like 20; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.4081G>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	3.775	-0.046732	0.07407	.	.	ENSG00000142449	ENST00000270509	T	0.42131	0.98	3.24	-0.289	0.12851	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.217426	0.38959	U	0.001513	T	0.18718	0.0449	L	0.46885	1.475	0.19575	N	0.999968	P	0.44006	0.824	B	0.28139	0.086	T	0.26643	-1.0097	10	0.12766	T	0.61	.	1.3805	0.02229	0.3252:0.392:0.1317:0.1512	.	1361	Q75N90	FBN3_HUMAN	K	1361	ENSP00000270509:E1361K	ENSP00000270509:E1361K	E	-	1	0	FBN3	8082535	0.056000	0.20664	0.060000	0.19600	0.113000	0.19764	0.769000	0.26604	-0.082000	0.12640	0.313000	0.20887	GAA		0.642	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		3	15	0	0	0	1	0	3	15				
NCAPD3	23310	broad.mit.edu	37	11	134027892	134027892	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:134027892G>A	ENST00000534548.2	-	31	4169	c.4105C>T	c.(4105-4107)Cgg>Tgg	p.R1369W		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1369					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CTCCGACTCCGATGCCTGCTC	0.507																																						ENST00000534548.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(4105-4107)Cgg>Tgg		non-SMC condensin II complex, subunit D3							180.0	178.0	178.0					11																	134027892		2201	4297	6498	SO:0001583	missense	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134027892G>A	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.4105C>T	11.37:g.134027892G>A	ENSP00000433681:p.Arg1369Trp						p.R1369W	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	31	4169	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1369					A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	c.4105C>T	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084514	0.55861	.	.	ENSG00000151503	ENST00000534548	T	0.34859	1.34	5.72	-0.571	0.11749	.	1.248890	0.05615	N	0.578705	T	0.35682	0.0940	L	0.42245	1.32	0.09310	N	1	D;D	0.62365	0.991;0.991	B;B	0.44315	0.446;0.425	T	0.49011	-0.8983	10	0.72032	D	0.01	0.2469	11.7198	0.51675	0.0:0.1:0.4269:0.4731	.	1369;429	P42695;Q96FA6	CNDD3_HUMAN;.	W	1369	ENSP00000433681:R1369W	ENSP00000433681:R1369W	R	-	1	2	NCAPD3	133533102	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	0.653000	0.24902	0.021000	0.15133	0.561000	0.74099	CGG		0.507	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		20	200	0	0	0	1	0	20	200				
RFC1	5981	broad.mit.edu	37	4	39304134	39304134	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:39304134G>A	ENST00000381897.1	-	18	2558	c.2425C>T	c.(2425-2427)Caa>Taa	p.Q809*	RFC1_ENST00000349703.2_Nonsense_Mutation_p.Q808*	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	809					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						CTGATATCTTGATTGGCTCCC	0.353																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	ENST00000381897.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(2425-2427)Caa>Taa		replication factor C (activator 1) 1, 145kDa							57.0	61.0	60.0					4																	39304134		2201	4297	6498	SO:0001587	stop_gained	5981				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	g.chr4:39304134G>A	L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.2425C>T	4.37:g.39304134G>A	ENSP00000371321:p.Gln809*					RFC1_ENST00000349703.2_Nonsense_Mutation_p.Q808*	p.Q809*	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN			18	2558	-			809					A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Nonsense_Mutation	SNP	ENST00000381897.1	37	c.2425C>T	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	G	41	8.959715	0.99018	.	.	ENSG00000035928	ENST00000381897;ENST00000349703	.	.	.	6.08	6.08	0.98989	.	0.058864	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-18.1476	20.6721	0.99693	0.0:0.0:1.0:0.0	.	.	.	.	X	809;808	.	ENSP00000261424:Q808X	Q	-	1	0	RFC1	38980529	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.991000	0.88244	2.894000	0.99253	0.591000	0.81541	CAA		0.353	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		4	33	0	0	0	1	0	4	33				
PTPN3	5774	broad.mit.edu	37	9	112195361	112195361	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr9:112195361G>C	ENST00000374541.2	-	10	860	c.756C>G	c.(754-756)ttC>ttG	p.F252L	PTPN3_ENST00000262539.3_Missense_Mutation_p.F143L|PTPN3_ENST00000446349.1_Missense_Mutation_p.F121L|PTPN3_ENST00000412145.1_Missense_Mutation_p.F121L	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	252	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						ACCAAGGATAGAAACTTGTGC	0.348																																						ENST00000412145.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(361-363)ttC>ttG		protein tyrosine phosphatase, non-receptor type 3							119.0	108.0	112.0					9																	112195361		2203	4300	6503	SO:0001583	missense	0				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112195361G>C		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.756C>G	9.37:g.112195361G>C	ENSP00000363667:p.Phe252Leu					PTPN3_ENST00000374541.2_Missense_Mutation_p.F252L|PTPN3_ENST00000446349.1_Missense_Mutation_p.F121L|PTPN3_ENST00000262539.3_Missense_Mutation_p.F143L	p.F121L	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN			5	2916	-			252			FERM.		A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	ENST00000374541.2	37	c.363C>G	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.231058	0.79688	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000262539	D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12	6.08	6.08	0.98989	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.88815	0.6539	N	0.21583	0.68	0.80722	D	1	D;D;B	0.89917	1.0;0.987;0.392	D;P;B	0.87578	0.998;0.898;0.262	D	0.83714	0.0189	10	0.12103	T	0.63	.	20.2585	0.98435	0.0:0.0:1.0:0.0	.	143;252;252	B7Z3H5;B7Z9V1;P26045	.;.;PTN3_HUMAN	L	252;121;121;252;143	ENSP00000416654:F121L;ENSP00000395384:F121L;ENSP00000363667:F252L;ENSP00000262539:F143L	ENSP00000262539:F143L	F	-	3	2	PTPN3	111235182	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.866000	0.87056	2.894000	0.99253	0.655000	0.94253	TTC		0.348	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			5	36	0	0	0	1	0	5	36				
KIAA0753	9851	broad.mit.edu	37	17	6502580	6502580	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:6502580C>G	ENST00000361413.3	-	14	2507	c.2149G>C	c.(2149-2151)Gcg>Ccg	p.A717P	KIAA0753_ENST00000575027.1_5'UTR|KIAA0753_ENST00000542606.1_Missense_Mutation_p.A418P|KIAA0753_ENST00000589033.1_Missense_Mutation_p.A173P|KIAA0753_ENST00000572370.1_Missense_Mutation_p.A418P|RNA5SP435_ENST00000364044.1_RNA	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	717						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TGGGCTTTCGCTGTGTTTACT	0.358																																						ENST00000361413.3																			0				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24						c.(2149-2151)Gcg>Ccg		KIAA0753							98.0	96.0	97.0					17																	6502580		1984	4159	6143	SO:0001583	missense	9851					centrosome		g.chr17:6502580C>G		CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.2149G>C	17.37:g.6502580C>G	ENSP00000355250:p.Ala717Pro					KIAA0753_ENST00000575027.1_5'UTR|KIAA0753_ENST00000542606.1_Missense_Mutation_p.A418P|KIAA0753_ENST00000589033.1_Missense_Mutation_p.A173P|KIAA0753_ENST00000572370.1_Missense_Mutation_p.A418P	p.A717P	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN		COAD - Colon adenocarcinoma(228;0.157)	14	2507	-			717					A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Missense_Mutation	SNP	ENST00000361413.3	37	c.2149G>C	CCDS42247.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.267304	0.23136	.	.	ENSG00000198920	ENST00000361413;ENST00000542606;ENST00000542826	T;T	0.11277	2.96;2.79	4.92	0.3	0.15776	.	1.445130	0.03814	N	0.266447	T	0.09113	0.0225	L	0.27053	0.805	0.09310	N	1	P	0.44195	0.828	B	0.41988	0.372	T	0.23762	-1.0179	10	0.48119	T	0.1	2.2757	4.249	0.10686	0.0:0.5442:0.1692:0.2866	.	717	Q2KHM9	K0753_HUMAN	P	717;418;173	ENSP00000355250:A717P;ENSP00000444634:A418P	ENSP00000355250:A717P	A	-	1	0	KIAA0753	6443304	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.208000	0.17415	0.329000	0.23460	-0.346000	0.07831	GCG		0.358	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804		5	38	0	0	0	1	0	5	38				
LRRIQ1	84125	broad.mit.edu	37	12	85450933	85450933	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:85450933C>T	ENST00000393217.2	+	8	2423	c.2362C>T	c.(2362-2364)Cga>Tga	p.R788*		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	788								p.R788*(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GGAAATTCTTCGATGTGGCCC	0.323																																						ENST00000393217.2																			2	Substitution - Nonsense(2)	p.R788*(2)	large_intestine(2)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(2362-2364)Cga>Tga		leucine-rich repeats and IQ motif containing 1							96.0	107.0	103.0					12																	85450933		2203	4300	6503	SO:0001587	stop_gained	84125							g.chr12:85450933C>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.2362C>T	12.37:g.85450933C>T	ENSP00000376910:p.Arg788*						p.R788*	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	8	2423	+			788					Q567P4|Q9BS17|Q9HA36	Nonsense_Mutation	SNP	ENST00000393217.2	37	c.2362C>T	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	C	40	8.025996	0.98616	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	.	.	.	5.56	5.56	0.83823	.	0.541530	0.17226	N	0.182151	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	17.713	0.88327	0.0:1.0:0.0:0.0	.	.	.	.	X	788;763;788	.	ENSP00000256007:R788X	R	+	1	2	LRRIQ1	83975064	0.829000	0.29322	0.826000	0.32828	0.814000	0.46013	2.885000	0.48570	2.613000	0.88420	0.591000	0.81541	CGA		0.323	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		11	149	0	0	0	1	0	11	149				
IQGAP2	10788	broad.mit.edu	37	5	75996926	75996926	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:75996926G>C	ENST00000274364.6	+	34	4690	c.4393G>C	c.(4393-4395)Gat>Cat	p.D1465H	IQGAP2_ENST00000379730.3_Missense_Mutation_p.D967H|CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000396234.3_Missense_Mutation_p.D961H|IQGAP2_ENST00000502745.1_Missense_Mutation_p.D961H	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1465					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AATTAAACTAGATGGAAAAGG	0.423																																						ENST00000274364.6																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(4393-4395)Gat>Cat		IQ motif containing GTPase activating protein 2							92.0	90.0	91.0					5																	75996926		2203	4300	6503	SO:0001583	missense	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:75996926G>C	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.4393G>C	5.37:g.75996926G>C	ENSP00000274364:p.Asp1465His					IQGAP2_ENST00000502745.1_Missense_Mutation_p.D961H|IQGAP2_ENST00000396234.3_Missense_Mutation_p.D961H|IQGAP2_ENST00000379730.3_Missense_Mutation_p.D967H|CTD-2384B11.2_ENST00000507514.1_RNA	p.D1465H	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	34	4690	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	1465					A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	37	c.4393G>C	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.509132	0.27036	.	.	ENSG00000145703	ENST00000274364;ENST00000379730;ENST00000396234;ENST00000502745	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.46	4.54	0.55810	RasGAP protein, C-terminal (1);	0.157834	0.56097	N	0.000038	T	0.34106	0.0886	L	0.39566	1.225	0.80722	D	1	B;B;B	0.15141	0.004;0.001;0.012	B;B;B	0.20577	0.019;0.007;0.03	T	0.15896	-1.0421	10	0.52906	T	0.07	-16.7203	10.5573	0.45125	0.0719:0.0:0.7941:0.134	.	967;961;1465	F5H7S7;Q13576-2;Q13576	.;.;IQGA2_HUMAN	H	1465;967;961;961	ENSP00000274364:D1465H;ENSP00000442313:D967H;ENSP00000379535:D961H;ENSP00000426027:D961H	ENSP00000274364:D1465H	D	+	1	0	IQGAP2	76032682	1.000000	0.71417	0.411000	0.26484	0.167000	0.22549	5.398000	0.66308	2.717000	0.92951	0.655000	0.94253	GAT		0.423	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		9	46	0	0	0	1	0	9	46				
CDK5RAP3	80279	broad.mit.edu	37	17	46053347	46053347	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:46053347G>A	ENST00000338399.4	+	8	872	c.766G>A	c.(766-768)Gag>Aag	p.E256K	RP11-6N17.9_ENST00000582262.1_RNA|CDK5RAP3_ENST00000536708.2_Missense_Mutation_p.E281K	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	256					brain development (GO:0007420)|protein ufmylation (GO:0071569)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of neuron differentiation (GO:0045664)	membrane (GO:0016020)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						ACCCCACCTCGAGGAGCTTCC	0.607																																						ENST00000536708.2																			0				NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						c.(841-843)Gag>Aag		CDK5 regulatory subunit associated protein 3							54.0	55.0	55.0					17																	46053347		2085	4200	6285	SO:0001583	missense	80279				brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding	g.chr17:46053347G>A	AF110322	CCDS42356.1, CCDS62232.1	17q21.2	2008-07-18				ENSG00000108465			18673	protein-coding gene	gene with protein product	"""ischemic heart CDK5 activator-binding protein C53"", ""LXXLL/leucine-zipper-containing ARFbinding protein"""	608202				10721722	Standard	NM_176096		Approved	MST016, FLJ13660, C53, IC53, HSF-27, OK/SW-cl.114, LZAP	uc010wlc.3	Q96JB5		ENST00000338399.4:c.766G>A	17.37:g.46053347G>A	ENSP00000344683:p.Glu256Lys					CDK5RAP3_ENST00000338399.4_Missense_Mutation_p.E256K	p.E281K	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN			8	950	+			256					B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	Missense_Mutation	SNP	ENST00000338399.4	37	c.841G>A	CCDS42356.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595426	0.46318	.	.	ENSG00000108465	ENST00000536708;ENST00000338399	T;T	0.42131	0.98;0.98	5.19	5.19	0.71726	.	0.111665	0.64402	D	0.000015	T	0.31167	0.0788	L	0.43646	1.37	0.80722	D	1	P;P;P;P	0.49862	0.659;0.521;0.707;0.929	B;B;B;B	0.33750	0.169;0.118;0.16;0.118	T	0.15578	-1.0432	10	0.15952	T	0.53	-22.8526	17.84	0.88712	0.0:0.0:1.0:0.0	.	281;169;256;31	F5H3I5;Q96JB5-2;Q96JB5;Q96JB5-3	.;.;CK5P3_HUMAN;.	K	281;256	ENSP00000438886:E281K;ENSP00000344683:E256K	ENSP00000344683:E256K	E	+	1	0	CDK5RAP3	43408346	1.000000	0.71417	0.254000	0.24359	0.277000	0.26821	5.092000	0.64511	2.571000	0.86741	0.655000	0.94253	GAG		0.607	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442913.1	NM_176096		10	70	0	0	0	1	0	10	70				
GABRA2	2555	broad.mit.edu	37	4	46252592	46252592	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:46252592C>T	ENST00000510861.1	-	10	1262	c.1089G>A	c.(1087-1089)caG>caA	p.Q363Q	GABRA2_ENST00000356504.1_Silent_p.Q363Q|GABRA2_ENST00000381620.4_Silent_p.Q363Q|GABRA2_ENST00000514090.1_Silent_p.Q363Q|GABRA2_ENST00000507069.1_Silent_p.Q423Q|GABRA2_ENST00000540012.1_Silent_p.Q368Q			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	363					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	AAGCGTTGTTCTGTATCATAA	0.408																																						ENST00000510861.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56						c.(1087-1089)caG>caA		gamma-aminobutyric acid (GABA) A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						90.0	91.0	90.0					4																	46252592		2203	4299	6502	SO:0001819	synonymous_variant	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46252592C>T		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.1089G>A	4.37:g.46252592C>T						GABRA2_ENST00000381620.4_Silent_p.Q363Q|GABRA2_ENST00000540012.1_Silent_p.Q368Q|GABRA2_ENST00000514090.1_Silent_p.Q363Q|GABRA2_ENST00000356504.1_Silent_p.Q363Q|GABRA2_ENST00000507069.1_Silent_p.Q423Q	p.Q363Q			P47869	GBRA2_HUMAN			10	1262	-			363					A8K0U7|B7Z1H8|Q59G14	Silent	SNP	ENST00000510861.1	37	c.1089G>A	CCDS3471.1																																																																																				0.408	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			10	83	0	0	0	1	0	10	83				
KCNA3	3738	broad.mit.edu	37	1	111216487	111216487	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:111216487G>A	ENST00000369769.2	-	1	1168	c.945C>T	c.(943-945)ttC>ttT	p.F315F		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	315					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	TAGGACAAGCGAAGAACCGCA	0.557																																						ENST00000369769.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38						c.(943-945)ttC>ttT		potassium voltage-gated channel, shaker-related subfamily, member 3							87.0	86.0	86.0					1																	111216487		2203	4300	6503	SO:0001819	synonymous_variant	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111216487G>A	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.945C>T	1.37:g.111216487G>A							p.F315F	NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	1168	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	315					Q5VWN2	Silent	SNP	ENST00000369769.2	37	c.945C>T	CCDS828.2																																																																																				0.557	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		24	95	0	0	0	1	0	24	95				
SLCO1C1	53919	broad.mit.edu	37	12	20905332	20905332	+	Nonsense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:20905332C>G	ENST00000266509.2	+	15	2377	c.2009C>G	c.(2008-2010)tCa>tGa	p.S670*	SLCO1C1_ENST00000545102.1_Missense_Mutation_p.F586L|SLCO1C1_ENST00000540354.1_Nonsense_Mutation_p.S621*|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.F704L|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.F704L	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	670					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	AATTATGTTTCAAAACACAGA	0.343																																						ENST00000266509.2																			0				NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(2008-2010)tCa>tGa		solute carrier organic anion transporter family, member 1C1							55.0	56.0	56.0					12																	20905332		2203	4300	6503	SO:0001587	stop_gained	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20905332C>G	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.2009C>G	12.37:g.20905332C>G	ENSP00000266509:p.Ser670*					SLCO1C1_ENST00000381552.1_Missense_Mutation_p.F704L|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.F586L|SLCO1C1_ENST00000540354.1_Nonsense_Mutation_p.S621*|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.F704L	p.S670*	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN			15	2377	+	Esophageal squamous(101;0.149)		670					B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Nonsense_Mutation	SNP	ENST00000266509.2	37	c.2009C>G	CCDS8683.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.621168|6.621168	0.97714|0.97714	.|.	.|.	ENSG00000139155|ENSG00000139155	ENST00000545604;ENST00000381552;ENST00000545102|ENST00000540354;ENST00000266509	T;T;T|.	0.38560|.	1.13;1.13;1.17|.	5.37|5.37	0.904|0.904	0.19302|0.19302	.|.	5.771150|.	0.00166|.	N|.	0.000000|.	T|.	0.23133|.	0.0559|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B;B|.	0.06786|.	0.001;0.0|.	B;B|.	0.04013|.	0.001;0.001|.	T|.	0.24764|.	-1.0151|.	9|.	0.41790|0.25751	T|T	0.15|0.34	.|.	4.6858|4.6858	0.12757|0.12757	0.2061:0.5594:0.0:0.2345|0.2061:0.5594:0.0:0.2345	.|.	586;704|.	F5GZD6;Q5JPA4|.	.;.|.	L|X	704;704;586|621;670	ENSP00000444149:F704L;ENSP00000370964:F704L;ENSP00000444527:F586L|.	ENSP00000370964:F704L|ENSP00000266509:S670X	F|S	+|+	3|2	2|0	SLCO1C1|SLCO1C1	20796599|20796599	0.326000|0.326000	0.24669|0.24669	0.063000|0.063000	0.19743|0.19743	0.695000|0.695000	0.40330|0.40330	0.455000|0.455000	0.21843|0.21843	0.295000|0.295000	0.22570|0.22570	0.655000|0.655000	0.94253|0.94253	TTC|TCA		0.343	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		4	36	0	0	0	1	0	4	36				
TECR	9524	broad.mit.edu	37	19	14675027	14675027	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:14675027C>G	ENST00000215567.5	+	7	554	c.417C>G	c.(415-417)atC>atG	p.I139M	TECR_ENST00000436007.2_Missense_Mutation_p.I154M|TECR_ENST00000600083.1_5'UTR|TECR_ENST00000596073.1_5'UTR	NM_138501.5	NP_612510.1	Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase	139					cellular lipid metabolic process (GO:0044255)|fatty acid elongation (GO:0030497)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|nucleus (GO:0005634)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|large_intestine(1)|ovary(1)	3						TCCACTACATCAAGCGCCTGC	0.627																																						ENST00000436007.2																			0				endometrium(1)|large_intestine(1)|ovary(1)	3						c.(460-462)atC>atG		trans-2,3-enoyl-CoA reductase							94.0	78.0	83.0					19																	14675027		2203	4300	6503	SO:0001583	missense	9524				fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity	g.chr19:14675027C>G	AK001416	CCDS12313.1	19p13.12	2014-05-27	2009-07-21	2009-07-21	ENSG00000099797	ENSG00000099797			4551	protein-coding gene	gene with protein product		610057	"""glycoprotein, synaptic 2"""	SC2, GPSN2		9653160, 12482854	Standard	NM_138501		Approved	TER, MRT14	uc002mza.3	Q9NZ01		ENST00000215567.5:c.417C>G	19.37:g.14675027C>G	ENSP00000215567:p.Ile139Met					TECR_ENST00000215567.5_Missense_Mutation_p.I139M|TECR_ENST00000600083.1_5'UTR|TECR_ENST00000596073.1_5'UTR	p.I154M			Q9NZ01	TECR_HUMAN			8	586	+			139					B2RD55|O75350|Q6IBB2|Q9BWK3|Q9Y6P0	Missense_Mutation	SNP	ENST00000215567.5	37	c.462C>G	CCDS12313.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.952086	0.34471	.	.	ENSG00000099797	ENST00000215567;ENST00000436007	T;T	0.27890	1.65;1.64	4.23	1.91	0.25777	.	0.611666	0.16028	N	0.233018	T	0.31295	0.0792	M	0.74647	2.275	0.30444	N	0.775949	B;B;B	0.21688	0.034;0.059;0.034	B;B;B	0.24155	0.031;0.051;0.031	T	0.27806	-1.0063	10	0.51188	T	0.08	-13.5137	6.1657	0.20388	0.0:0.5205:0.3749:0.1045	.	139;154;139	B3KM97;B3KSQ1;Q9NZ01	.;.;TECR_HUMAN	M	139;154	ENSP00000215567:I139M;ENSP00000397206:I154M	ENSP00000215567:I139M	I	+	3	3	TECR	14536027	0.976000	0.34144	0.929000	0.37066	0.958000	0.62258	0.139000	0.16036	0.202000	0.20498	0.455000	0.32223	ATC		0.627	TECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466000.1	NM_138501		15	94	0	0	0	1	0	15	94				
HEATR5B	54497	broad.mit.edu	37	2	37291994	37291994	+	Silent	SNP	G	G	C	rs142538657		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:37291994G>C	ENST00000233099.5	-	10	1568	c.1473C>G	c.(1471-1473)ctC>ctG	p.L491L	HEATR5B_ENST00000354531.2_Silent_p.L491L	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	491						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.L491L(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TCAAGTTGTTGAGCCGTTCTG	0.507																																						ENST00000233099.5																			1	Substitution - coding silent(1)	p.L491L(1)	skin(1)	breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(1471-1473)ctC>ctG		HEAT repeat containing 5B							132.0	111.0	118.0					2																	37291994		2203	4300	6503	SO:0001819	synonymous_variant	54497						binding	g.chr2:37291994G>C	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.1473C>G	2.37:g.37291994G>C						HEATR5B_ENST00000354531.2_Silent_p.L491L	p.L491L	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			10	1568	-		all_hematologic(82;0.21)	491					B5MDU8|Q7Z3B2|Q9NVL7	Silent	SNP	ENST00000233099.5	37	c.1473C>G	CCDS33181.1																																																																																				0.507	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		22	44	0	0	0	1	0	22	44				
RNF111	54778	broad.mit.edu	37	15	59373350	59373350	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:59373350C>A	ENST00000557998.1	+	8	2451	c.2164C>A	c.(2164-2166)Cag>Aag	p.Q722K	RNF111_ENST00000559209.1_Missense_Mutation_p.Q722K|RNF111_ENST00000348370.4_Missense_Mutation_p.Q722K|RNF111_ENST00000561186.1_Missense_Mutation_p.Q722K|RNF111_ENST00000434298.1_Missense_Mutation_p.Q722K	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	722	Pro-rich.				gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q722*(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		ACCAATCCCTCAGCATCTTCC	0.502																																					NSCLC(72;983 1365 10746 34387 47081)	ENST00000348370.4																			1	Substitution - Nonsense(1)	p.Q722*(1)	upper_aerodigestive_tract(1)	breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2164-2166)Cag>Aag		ring finger protein 111							320.0	262.0	281.0					15																	59373350		2192	4291	6483	SO:0001583	missense	54778				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:59373350C>A	AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.2164C>A	15.37:g.59373350C>A	ENSP00000452732:p.Gln722Lys					RNF111_ENST00000557998.1_Missense_Mutation_p.Q722K|RNF111_ENST00000561186.1_Missense_Mutation_p.Q722K|RNF111_ENST00000559209.1_Missense_Mutation_p.Q722K|RNF111_ENST00000434298.1_Missense_Mutation_p.Q722K	p.Q722K	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN		all cancers(107;0.194)	8	2597	+			722			Pro-rich.		C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	ENST00000557998.1	37	c.2164C>A	CCDS58366.1	.	.	.	.	.	.	.	.	.	.	C	31	5.077163	0.94000	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.16073	2.4;2.37	5.55	5.55	0.83447	.	0.055843	0.64402	D	0.000001	T	0.42086	0.1187	M	0.61703	1.905	0.80722	D	1	D;D;D	0.69078	0.997;0.993;0.996	D;D;D	0.74674	0.984;0.952;0.979	T	0.15350	-1.0440	10	0.62326	D	0.03	-2.2323	19.5183	0.95174	0.0:1.0:0.0:0.0	.	722;722;722	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	K	722	ENSP00000288199:Q722K;ENSP00000393641:Q722K	ENSP00000288199:Q722K	Q	+	1	0	RNF111	57160642	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.294000	0.78760	2.613000	0.88420	0.467000	0.42956	CAG		0.502	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610		16	116	1	0	1.3612e-06	1	1.44069e-06	16	116				
ATP6AP1	537	broad.mit.edu	37	X	153663762	153663762	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:153663762G>A	ENST00000369762.2	+	9	1175	c.1114G>A	c.(1114-1116)Gag>Aag	p.E372K	GDI1_ENST00000447750.2_5'Flank	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	372					ATP hydrolysis coupled proton transport (GO:0015991)|establishment of organelle localization (GO:0051656)|pH reduction (GO:0045851)|positive regulation of bone resorption (GO:0045780)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoclast development (GO:2001206)|proton transport (GO:0015992)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuole (GO:0005773)	ATP binding (GO:0005524)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTCCACTGCGAGTATGTCAG	0.592																																						ENST00000369762.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14						c.(1114-1116)Gag>Aag		ATPase, H+ transporting, lysosomal accessory protein 1							61.0	51.0	55.0					X																	153663762		2203	4300	6503	SO:0001583	missense	537				ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chrX:153663762G>A	D16469	CCDS35451.1	Xq28	2010-03-10	2003-08-28	2003-08-29	ENSG00000071553	ENSG00000071553			868	protein-coding gene	gene with protein product		300197	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1"""	ATP6S1, ATP6IP1		8733135, 8281148	Standard	NM_001183		Approved	ORF, XAP-3, VATPS1, 16A, Ac45, XAP3, CF2	uc004flf.1	Q15904	OTTHUMG00000033291	ENST00000369762.2:c.1114G>A	X.37:g.153663762G>A	ENSP00000358777:p.Glu372Lys						p.E372K	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN			9	1175	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		372					A6ZKI4|Q8NBT4|Q9H0C7	Missense_Mutation	SNP	ENST00000369762.2	37	c.1114G>A	CCDS35451.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096257	0.56075	.	.	ENSG00000071553	ENST00000369762;ENST00000445849	.	.	.	5.69	0.458	0.16670	.	0.544981	0.22570	N	0.058360	T	0.38639	0.1048	L	0.59436	1.845	0.24550	N	0.994024	B;B	0.21452	0.023;0.056	B;B	0.14023	0.01;0.01	T	0.33240	-0.9876	9	0.11794	T	0.64	-2.4759	12.9401	0.58337	0.0771:0.6509:0.272:0.0	.	332;372	B3KR70;Q15904	.;VAS1_HUMAN	K	372;196	.	ENSP00000358777:E372K	E	+	1	0	ATP6AP1	153316956	0.404000	0.25328	0.180000	0.23079	0.895000	0.52256	0.027000	0.13621	-0.070000	0.12908	-0.197000	0.12766	GAG		0.592	ATP6AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081639.4	NM_001183		21	51	0	0	0	1	0	21	51				
SLC35E4	339665	broad.mit.edu	37	22	31042916	31042916	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:31042916C>T	ENST00000343605.4	+	2	1750	c.951C>T	c.(949-951)ctC>ctT	p.L317L	SLC35E4_ENST00000406566.1_Intron|SLC35E4_ENST00000300385.8_Intron	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	317	Leu-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						GCATCGCACTCACTCTTTCAG	0.627																																						ENST00000343605.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						c.(949-951)ctC>ctT		solute carrier family 35, member E4							92.0	75.0	81.0					22																	31042916		2203	4300	6503	SO:0001819	synonymous_variant	339665					integral to membrane		g.chr22:31042916C>T		CCDS13882.1	22q12.2	2013-05-22			ENSG00000100036	ENSG00000100036		"""Solute carriers"""	17058	protein-coding gene	gene with protein product							Standard	NM_001001479		Approved		uc003ais.1	Q6ICL7	OTTHUMG00000151110	ENST00000343605.4:c.951C>T	22.37:g.31042916C>T						SLC35E4_ENST00000300385.8_Intron|SLC35E4_ENST00000406566.1_Intron	p.L317L	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN			2	1750	+			317			Leu-rich.		Q567P0	Silent	SNP	ENST00000343605.4	37	c.951C>T	CCDS13882.1																																																																																				0.627	SLC35E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321382.1	XM_290973		10	70	0	0	0	1	0	10	70				
NUP50	10762	broad.mit.edu	37	22	45577223	45577223	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:45577223G>C	ENST00000347635.4	+	6	1526	c.1060G>C	c.(1060-1062)Gaa>Caa	p.E354Q	NUP50_ENST00000425733.2_Missense_Mutation_p.E104Q|CTA-268H5.12_ENST00000610217.1_RNA|NUP50_ENST00000396096.2_Missense_Mutation_p.E326Q|NUP50_ENST00000407019.2_Missense_Mutation_p.E326Q	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	354	RanBD1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intracellular transport (GO:0046907)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CGAAGTAAAAGAAGAAGATGC	0.418																																						ENST00000347635.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9						c.(1060-1062)Gaa>Caa		nucleoporin 50kDa							81.0	83.0	83.0					22																	45577223		2203	4300	6503	SO:0001583	missense	10762				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding	g.chr22:45577223G>C	AF107840	CCDS14062.1, CCDS14063.1	22q13.3	2007-01-22	2002-08-29		ENSG00000093000	ENSG00000093000			8065	protein-coding gene	gene with protein product		604646	"""nucleoporin 50kD"""	NPAP60L		10449902	Standard	XM_005261312		Approved		uc003bfr.3	Q9UKX7	OTTHUMG00000151265	ENST00000347635.4:c.1060G>C	22.37:g.45577223G>C	ENSP00000345895:p.Glu354Gln					NUP50_ENST00000425733.2_Missense_Mutation_p.E104Q|NUP50_ENST00000407019.2_Missense_Mutation_p.E326Q|NUP50_ENST00000396096.2_Missense_Mutation_p.E326Q	p.E354Q	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	6	1526	+		Ovarian(80;0.00965)|all_neural(38;0.0244)	354			RanBD1.		B1AHA4|B2RB15|O75644|Q8N6V5|Q9NPM9|Q9NPR6|Q9P1K5	Missense_Mutation	SNP	ENST00000347635.4	37	c.1060G>C	CCDS14062.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.979882	0.92982	.	.	ENSG00000093000	ENST00000347635;ENST00000407019;ENST00000425733;ENST00000396096;ENST00000422489	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.72	5.72	0.89469	Pleckstrin homology-type (1);Ran binding protein 1 (3);	0.000000	0.85682	D	0.000000	T	0.74351	0.3705	M	0.92691	3.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79524	-0.1768	10	0.59425	D	0.04	-42.6985	19.5613	0.95373	0.0:0.0:1.0:0.0	.	104;354	B4E2D3;Q9UKX7	.;NUP50_HUMAN	Q	354;326;104;326;133	ENSP00000345895:E354Q;ENSP00000385555:E326Q;ENSP00000406928:E104Q;ENSP00000379403:E326Q;ENSP00000416264:E133Q	ENSP00000345895:E354Q	E	+	1	0	NUP50	43955887	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.210000	0.89753	2.702000	0.92279	0.650000	0.86243	GAA		0.418	NUP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321993.2			4	54	0	0	0	1	0	4	54				
LRP2	4036	broad.mit.edu	37	2	170058204	170058204	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:170058204G>A	ENST00000263816.3	-	44	8671	c.8386C>T	c.(8386-8388)Cgt>Tgt	p.R2796C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2796	LDL-receptor class A 18. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ATAAACTCACGAGGTATGCAC	0.433																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(8386-8388)Cgt>Tgt		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						174.0	154.0	161.0					2																	170058204		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170058204G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.8386C>T	2.37:g.170058204G>A	ENSP00000263816:p.Arg2796Cys						p.R2796C	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	44	8671	-			2796			LDL-receptor class A 18.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.8386C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.951240	0.53186	.	.	ENSG00000081479	ENST00000263816	D	0.95690	-3.78	5.92	4.12	0.48240	.	0.622966	0.17896	N	0.158355	D	0.96664	0.8911	M	0.80847	2.515	0.33219	D	0.554447	D	0.69078	0.997	P	0.56916	0.809	D	0.97187	0.9855	10	0.56958	D	0.05	.	11.2383	0.48953	0.0656:0.0:0.8062:0.1281	.	2796	P98164	LRP2_HUMAN	C	2796	ENSP00000263816:R2796C	ENSP00000263816:R2796C	R	-	1	0	LRP2	169766450	0.941000	0.31946	0.006000	0.13384	0.527000	0.34593	4.297000	0.59061	0.823000	0.34589	0.650000	0.86243	CGT		0.433	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		5	64	0	0	0	1	0	5	64				
TAF6L	10629	broad.mit.edu	37	11	62549791	62549791	+	Silent	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:62549791C>G	ENST00000294168.3	+	8	1014	c.813C>G	c.(811-813)ctC>ctG	p.L271L	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	271					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|histone H3 acetylation (GO:0043966)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	histone deacetylase complex (GO:0000118)|STAGA complex (GO:0030914)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						CCCTCCTGCTCAGCCACATCT	0.607																																						ENST00000294168.3																			0				endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						c.(811-813)ctC>ctG		TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa							47.0	52.0	50.0					11																	62549791		2201	4299	6500	SO:0001819	synonymous_variant	10629				chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity	g.chr11:62549791C>G	BC008785	CCDS8035.1	11q12.3	2008-02-01	2002-08-29		ENSG00000162227	ENSG00000162227			17305	protein-coding gene	gene with protein product		602946	"""TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425	Standard	NM_006473		Approved	PAF65A	uc001nvc.3	Q9Y6J9	OTTHUMG00000167610	ENST00000294168.3:c.813C>G	11.37:g.62549791C>G						TMEM223_ENST00000527073.1_Intron	p.L271L	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN			8	1014	+			271					B2RAT0|Q96HA6	Silent	SNP	ENST00000294168.3	37	c.813C>G	CCDS8035.1																																																																																				0.607	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395352.1	NM_006473		37	100	0	0	0	1	0	37	100				
KDM6B	23135	broad.mit.edu	37	17	7748879	7748879	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:7748879C>T	ENST00000448097.2	+	4	338	c.7C>T	c.(7-9)Cgg>Tgg	p.R3W	KDM6B_ENST00000254846.5_Missense_Mutation_p.R3W			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	3					cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CTGGATGCATCGGGCAGTGGA	0.637																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(7-9)Cgg>Tgg		lysine (K)-specific demethylase 6B							52.0	56.0	55.0					17																	7748879		2203	4300	6503	SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7748879C>T	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.7C>T	17.37:g.7748879C>T	ENSP00000412513:p.Arg3Trp					KDM6B_ENST00000448097.2_Missense_Mutation_p.R3W	p.R3W	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			4	396	+			3					C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.7C>T		.	.	.	.	.	.	.	.	.	.	C	17.44	3.391363	0.62066	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.35605	1.3;1.3	4.25	4.25	0.50352	.	0.000000	0.49916	D	0.000138	T	0.42086	0.1187	N	0.14661	0.345	0.51482	D	0.999921	D	0.89917	1.0	D	0.72338	0.977	T	0.49679	-0.8914	10	0.87932	D	0	-15.7425	14.5399	0.67984	0.0:1.0:0.0:0.0	.	3	O15054-1	.	W	3	ENSP00000254846:R3W;ENSP00000412513:R3W	ENSP00000254846:R3W	R	+	1	2	KDM6B	7689604	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.111000	0.71541	2.384000	0.81235	0.542000	0.68232	CGG		0.637	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		10	108	0	0	0	1	0	10	108				
STXBP5L	9515	broad.mit.edu	37	3	121126326	121126326	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:121126326C>G	ENST00000273666.6	+	24	3167	c.2896C>G	c.(2896-2898)Cag>Gag	p.Q966E	STXBP5L_ENST00000472879.1_Missense_Mutation_p.Q942E|STXBP5L_ENST00000492541.1_Missense_Mutation_p.Q966E|STXBP5L_ENST00000471454.1_Missense_Mutation_p.Q942E|STXBP5L_ENST00000497029.1_Missense_Mutation_p.Q940E	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	966					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ACTGCCTTCTCAGACTTGCCT	0.418																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(2896-2898)Cag>Gag		syntaxin binding protein 5-like							147.0	139.0	142.0					3																	121126326		1941	4141	6082	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:121126326C>G	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.2896C>G	3.37:g.121126326C>G	ENSP00000273666:p.Gln966Glu					STXBP5L_ENST00000471454.1_Missense_Mutation_p.Q942E|STXBP5L_ENST00000472879.1_Missense_Mutation_p.Q942E|STXBP5L_ENST00000497029.1_Missense_Mutation_p.Q940E|STXBP5L_ENST00000492541.1_Missense_Mutation_p.Q966E	p.Q966E	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	24	3167	+			966					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.2896C>G	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.621640	0.87460	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93	5.33	5.33	0.75918	Lethal giant larvae (Lgl)-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.58609	0.2134	M	0.88105	2.93	0.80722	D	1	D;D	0.60575	0.988;0.988	D;D	0.76071	0.987;0.987	T	0.59408	-0.7460	10	0.30854	T	0.27	-8.1614	19.3769	0.94514	0.0:1.0:0.0:0.0	.	942;966	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	E	966;942;942;940;966;909	ENSP00000273666:Q966E;ENSP00000420019:Q942E;ENSP00000419627:Q942E;ENSP00000420287:Q940E;ENSP00000420666:Q966E;ENSP00000420167:Q909E	ENSP00000273666:Q966E	Q	+	1	0	STXBP5L	122609016	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.744000	0.68664	2.660000	0.90430	0.650000	0.86243	CAG		0.418	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			12	71	0	0	0	1	0	12	71				
FCGBP	8857	broad.mit.edu	37	19	40395956	40395956	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:40395956G>C	ENST00000221347.6	-	15	7448	c.7441C>G	c.(7441-7443)Cag>Gag	p.Q2481E		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2481	VWFD 6. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCGCAGGTCTGAGCCAGCACA	0.642																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(7441-7443)Cag>Gag		Fc fragment of IgG binding protein							152.0	125.0	135.0					19																	40395956		2169	3937	6106	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40395956G>C	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.7441C>G	19.37:g.40395956G>C	ENSP00000221347:p.Gln2481Glu						p.Q2481E	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		15	7448	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		2481			VWFD 6.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.7441C>G	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408121	0.42715	.	.	ENSG00000090920	ENST00000221347	T	0.61742	0.08	3.44	-2.95	0.05564	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.49115	0.1538	L	0.37850	1.14	0.09310	N	1	B	0.31893	0.345	B	0.41917	0.37	T	0.51865	-0.8651	9	0.37606	T	0.19	.	8.2993	0.32004	0.0:0.137:0.3059:0.5572	.	2481	Q9Y6R7	FCGBP_HUMAN	E	2481	ENSP00000221347:Q2481E	ENSP00000221347:Q2481E	Q	-	1	0	FCGBP	45087796	0.000000	0.05858	0.006000	0.13384	0.754000	0.42855	-0.101000	0.10973	-0.741000	0.04797	0.298000	0.19748	CAG		0.642	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		29	311	0	0	0	1	0	29	311				
APEH	327	broad.mit.edu	37	3	49723897	49723897	+	IGR	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:49723897G>A	ENST00000296456.5	+	0	3220				MST1_ENST00000383728.3_Missense_Mutation_p.R214C|MST1_ENST00000545762.1_3'UTR|MST1_ENST00000494828.2_5'Flank|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000449682.2_Missense_Mutation_p.R289C	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCCTCTTGGCGGGGCTGTGCC	0.657																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(865-867)Cgc>Tgc		macrophage stimulating 1 (hepatocyte growth factor-like)							28.0	31.0	30.0					3																	49723897		2201	4297	6498	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723897G>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723897G>A						MST1_ENST00000545762.1_3'UTR|MST1_ENST00000383728.3_Missense_Mutation_p.R214C	p.R289C	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	8	1226	-			275			Kringle 3.		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.865C>T	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.709029	0.89018	.	.	ENSG00000173531	ENST00000449682;ENST00000383728	D;T	0.88124	-2.34;-0.52	5.15	1.11	0.20524	Kringle (1);Kringle-like fold (1);	0.571654	0.14622	N	0.308331	D	0.92397	0.7587	M	0.88377	2.95	0.18873	N	0.999989	D;D	0.76494	0.997;0.999	P;P	0.61397	0.776;0.888	D	0.84585	0.0663	10	0.59425	D	0.04	.	9.8847	0.41255	0.0:0.1259:0.4375:0.4366	.	275;289	P26927;G3XAK1	HGFL_HUMAN;.	C	289;214	ENSP00000414287:R289C;ENSP00000373234:R214C	ENSP00000373234:R214C	R	-	1	0	MST1	49698901	0.014000	0.17966	0.000000	0.03702	0.856000	0.48823	1.909000	0.39917	0.005000	0.14708	0.655000	0.94253	CGC		0.657	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			4	27	0	0	0	1	0	4	27				
GRN	2896	broad.mit.edu	37	17	42429011	42429011	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:42429011C>T	ENST00000053867.3	+	10	1089	c.1027C>T	c.(1027-1029)Ccc>Tcc	p.P343S	GRN_ENST00000589265.1_Missense_Mutation_p.P186S|GRN_ENST00000589923.1_3'UTR	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	343					blastocyst hatching (GO:0001835)|cell death (GO:0008219)|embryo implantation (GO:0007566)|positive regulation of epithelial cell proliferation (GO:0050679)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	growth factor activity (GO:0008083)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CCACCAGGTGCCCTGGATGGA	0.607																																						ENST00000053867.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1027-1029)Ccc>Tcc		granulin							75.0	75.0	75.0					17																	42429011		2203	4300	6503	SO:0001583	missense	2896				signal transduction	extracellular space	cytokine activity|growth factor activity	g.chr17:42429011C>T	M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582			4601	protein-coding gene	gene with protein product	"""progranulin"""	138945				1417868, 9826678	Standard	XM_005257253		Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000053867.3:c.1027C>T	17.37:g.42429011C>T	ENSP00000053867:p.Pro343Ser					GRN_ENST00000589265.1_Missense_Mutation_p.P186S|GRN_ENST00000589923.1_3'UTR	p.P343S	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	10	1089	+		Prostate(33;0.0181)	343					D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Missense_Mutation	SNP	ENST00000053867.3	37	c.1027C>T	CCDS11483.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.615286	0.28801	.	.	ENSG00000030582	ENST00000053867;ENST00000357351;ENST00000393566	T	0.72835	-0.69	5.4	3.34	0.38264	.	0.082270	0.51477	N	0.000093	T	0.64897	0.2640	L	0.48642	1.525	0.40172	D	0.977183	B;B	0.20261	0.037;0.043	B;B	0.29524	0.023;0.103	T	0.58440	-0.7636	10	0.45353	T	0.12	-18.1847	11.6466	0.51265	0.0:0.7976:0.1265:0.0759	.	280;343	B4DJI2;P28799	.;GRN_HUMAN	S	343;343;163	ENSP00000053867:P343S	ENSP00000053867:P343S	P	+	1	0	GRN	39784537	0.956000	0.32656	0.954000	0.39281	0.125000	0.20455	2.872000	0.48467	0.244000	0.21351	-1.134000	0.01955	CCC		0.607	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457766.1	NM_002087		34	67	0	0	0	1	0	34	67				
TLR2	7097	broad.mit.edu	37	4	154626043	154626043	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:154626043G>C	ENST00000260010.6	+	1	3392	c.1984G>C	c.(1984-1986)Gag>Cag	p.E662Q		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	662	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	TATGGTCCAGGAGCTGGAGAA	0.473																																						ENST00000260010.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29						c.(1984-1986)Gag>Cag		toll-like receptor 2							54.0	53.0	53.0					4																	154626043		2203	4300	6503	SO:0001583	missense	7097				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	g.chr4:154626043G>C	U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"""CD molecules"""	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.1984G>C	4.37:g.154626043G>C	ENSP00000260010:p.Glu662Gln						p.E662Q	NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN			1	3392	+	all_hematologic(180;0.093)	Renal(120;0.117)	662			TIR.		B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	ENST00000260010.6	37	c.1984G>C	CCDS3784.1	.	.	.	.	.	.	.	.	.	.	G	8.898	0.955560	0.18507	.	.	ENSG00000137462	ENST00000260010	T	0.09817	2.94	5.5	3.74	0.42951	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.247461	0.39210	N	0.001439	T	0.06554	0.0168	N	0.21240	0.645	0.37548	D	0.918595	B	0.19706	0.038	B	0.17433	0.018	T	0.34700	-0.9818	10	0.17832	T	0.49	.	7.2898	0.26360	0.1436:0.2715:0.5848:0.0	.	662	O60603	TLR2_HUMAN	Q	662	ENSP00000260010:E662Q	ENSP00000260010:E662Q	E	+	1	0	TLR2	154845493	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.764000	0.47613	0.662000	0.31006	0.655000	0.94253	GAG		0.473	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1			10	60	0	0	0	1	0	10	60				
PYHIN1	149628	broad.mit.edu	37	1	158909028	158909028	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:158909028C>T	ENST00000368140.1	+	4	815	c.570C>T	c.(568-570)tcC>tcT	p.S190S	PYHIN1_ENST00000392254.2_Silent_p.S190S|PYHIN1_ENST00000368138.3_Silent_p.S181S|PYHIN1_ENST00000392252.3_Silent_p.S181S|PYHIN1_ENST00000368135.4_Silent_p.S190S	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	190					cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					CCAACACTTCCTCAACTGAGG	0.502																																						ENST00000368140.1																			0				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(568-570)tcC>tcT		pyrin and HIN domain family, member 1							146.0	130.0	135.0					1																	158909028		2203	4300	6503	SO:0001819	synonymous_variant	149628				cell cycle	nuclear speck		g.chr1:158909028C>T	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.570C>T	1.37:g.158909028C>T						PYHIN1_ENST00000392252.3_Silent_p.S181S|PYHIN1_ENST00000368138.3_Silent_p.S181S|PYHIN1_ENST00000368135.4_Silent_p.S190S|PYHIN1_ENST00000392254.2_Silent_p.S190S	p.S190S	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN			4	815	+	all_hematologic(112;0.0378)		190					Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Silent	SNP	ENST00000368140.1	37	c.570C>T	CCDS1178.1																																																																																				0.502	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		7	127	0	0	0	1	0	7	127				
PLEKHJ1	55111	broad.mit.edu	37	19	2233840	2233840	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:2233840C>T	ENST00000589097.1	-	7	1562	c.449G>A	c.(448-450)tGa>tAa	p.*150*	PLEKHJ1_ENST00000326631.2_Silent_p.*150*|PLEKHJ1_ENST00000591099.2_3'UTR|PLEKHJ1_ENST00000587962.2_3'UTR|PLEKHJ1_ENST00000586608.2_Silent_p.*151*|MIR1227_ENST00000408484.1_RNA|PLEKHJ1_ENST00000589791.1_5'UTR|SF3A2_ENST00000221494.5_5'Flank|PLEKHJ1_ENST00000587394.2_Intron			Q9NW61	PKHJ1_HUMAN	pleckstrin homology domain containing, family J member 1	0										endometrium(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCTGCGCTCACGCCTGCAA	0.637																																						ENST00000589097.1																			0				endometrium(1)|kidney(1)	2						c.(448-450)tGa>tAa		pleckstrin homology domain containing, family J member 1							25.0	21.0	23.0					19																	2233840		2188	4290	6478	SO:0001819	synonymous_variant	55111						protein binding	g.chr19:2233840C>T	AK001159	CCDS12083.1, CCDS74251.1	19p13.3	2013-01-10				ENSG00000104886		"""Pleckstrin homology (PH) domain containing"""	18211	protein-coding gene	gene with protein product	"""guanine nucleotide releasing protein x"""					11602354	Standard	XM_006722784		Approved	FLJ10297	uc002lvf.1	Q9NW61		ENST00000589097.1:c.449G>A	19.37:g.2233840C>T						PLEKHJ1_ENST00000587962.1_3'UTR|PLEKHJ1_ENST00000591099.1_3'UTR|PLEKHJ1_ENST00000586608.1_Silent_p.*151*|PLEKHJ1_ENST00000326631.2_Silent_p.*150*|PLEKHJ1_ENST00000588545.1_Silent_p.*131*|PLEKHJ1_ENST00000587394.1_Intron|PLEKHJ1_ENST00000589791.1_5'UTR	p.*150*			Q9NW61	PKHJ1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1562	-			0					B3KUQ9|D6W604	Silent	SNP	ENST00000589097.1	37	c.449G>A	CCDS12083.1																																																																																				0.637	PLEKHJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451255.1	NM_018049		4	20	0	0	0	1	0	4	20				
TVP23B	51030	broad.mit.edu	37	17	18692746	18692746	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:18692746C>G	ENST00000307767.8	+	2	392	c.93C>G	c.(91-93)atC>atG	p.I31M	TVP23B_ENST00000476139.1_5'UTR|TVP23B_ENST00000581733.1_5'UTR|TVP23B_ENST00000574226.1_Missense_Mutation_p.I31M	NM_016078.4	NP_057162.4	Q9NYZ1	TV23B_HUMAN	trans-golgi network vesicle protein 23 homolog B (S. cerevisiae)	31						integral component of membrane (GO:0016021)											AAGCCAAAATCAGGTAGGAGG	0.428																																						ENST00000307767.8																			0											c.(91-93)atC>atG		trans-golgi network vesicle protein 23 homolog B (S. cerevisiae)							304.0	264.0	278.0					17																	18692746		2203	4300	6503	SO:0001583	missense	51030							g.chr17:18692746C>G	AF151906	CCDS42274.1	17p11.2	2012-11-29	2012-11-29	2012-11-29	ENSG00000171928	ENSG00000171928			20399	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B"", ""family with sequence similarity 18, member B1"""	FAM18B, FAM18B1		10810093	Standard	NM_016078		Approved	CGI-148, YDR084C	uc002gum.2	Q9NYZ1	OTTHUMG00000059052	ENST00000307767.8:c.93C>G	17.37:g.18692746C>G	ENSP00000305654:p.Ile31Met					TVP23B_ENST00000476139.1_5'UTR|TVP23B_ENST00000581733.1_5'UTR|TVP23B_ENST00000574226.1_Missense_Mutation_p.I31M	p.I31M	NM_016078.4	NP_057162.4					2	392	+								A8K448|Q96HK5|Q9Y3E6	Missense_Mutation	SNP	ENST00000307767.8	37	c.93C>G	CCDS42274.1	.	.	.	.	.	.	.	.	.	.	C	7.178	0.588966	0.13812	.	.	ENSG00000171928	ENST00000307767	T	0.43294	0.95	2.56	2.56	0.30785	.	0.051917	0.64402	D	0.000001	T	0.49898	0.1584	M	0.88512	2.96	0.80722	D	1	B	0.34349	0.45	B	0.41666	0.363	T	0.50415	-0.8831	10	0.35671	T	0.21	-13.1468	6.7254	0.23353	0.2808:0.7191:0.0:0.0	.	31	Q9NYZ1	F18B1_HUMAN	M	31	ENSP00000305654:I31M	ENSP00000305654:I31M	I	+	3	3	FAM18B1	18633471	1.000000	0.71417	0.979000	0.43373	0.425000	0.31504	1.489000	0.35562	1.448000	0.47680	0.194000	0.17425	ATC		0.428	TVP23B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130667.2	NM_016078		5	75	0	0	0	1	0	5	75				
COL4A5	1287	broad.mit.edu	37	X	107834449	107834449	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:107834449C>G	ENST00000361603.2	+	20	1571	c.1327C>G	c.(1327-1329)Cac>Gac	p.H443D	COL4A5_ENST00000328300.6_Missense_Mutation_p.H443D	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	443	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TGCTGGCCCTCACATTCCTCC	0.458									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(1327-1329)Cac>Gac		collagen, type IV, alpha 5							58.0	64.0	62.0					X																	107834449		2203	4299	6502	SO:0001583	missense	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107834449C>G	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.1327C>G	X.37:g.107834449C>G	ENSP00000354505:p.His443Asp					COL4A5_ENST00000361603.2_Missense_Mutation_p.H443D	p.H443D	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN			20	1571	+			443			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.1327C>G	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	c	0.463	-0.888001	0.02511	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.92805	-3.11;-3.11	5.08	4.21	0.49690	.	0.318072	0.30959	N	0.008521	T	0.78304	0.4262	N	0.08118	0	0.80722	D	1	B;B;B	0.19073	0.02;0.033;0.02	B;B;B	0.19666	0.011;0.026;0.011	T	0.65755	-0.6091	10	0.11182	T	0.66	.	3.5129	0.07714	0.1836:0.5319:0.0:0.2845	.	443;51;443	E7EVY4;Q49AM6;P29400	.;.;CO4A5_HUMAN	D	443	ENSP00000331902:H443D;ENSP00000354505:H443D	ENSP00000331902:H443D	H	+	1	0	COL4A5	107721105	0.127000	0.22367	0.337000	0.25536	0.036000	0.12997	0.834000	0.27518	0.928000	0.37168	0.540000	0.68198	CAC		0.458	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			5	78	0	0	0	1	0	5	78				
TIMELESS	8914	broad.mit.edu	37	12	56825346	56825346	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:56825346G>C	ENST00000553532.1	-	8	880	c.730C>G	c.(730-732)Cag>Gag	p.Q244E	TIMELESS_ENST00000229201.4_Missense_Mutation_p.Q243E|TIMELESS_ENST00000554616.1_Missense_Mutation_p.Q244E					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CTCCGCTCCTGAGCTAAGCGT	0.552																																						ENST00000229201.4																			0				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						c.(727-729)Cag>Gag		timeless circadian clock							94.0	83.0	87.0					12																	56825346		2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56825346G>C	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.730C>G	12.37:g.56825346G>C	ENSP00000450607:p.Gln244Glu					TIMELESS_ENST00000554616.1_Missense_Mutation_p.Q244E|TIMELESS_ENST00000553532.1_Missense_Mutation_p.Q244E	p.Q243E	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN			8	881	-			244						Missense_Mutation	SNP	ENST00000553532.1	37	c.727C>G	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	G	8.181	0.793869	0.16327	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.40225	1.04;1.04;1.04	5.42	5.42	0.78866	Timeless protein (1);	0.186958	0.45606	D	0.000345	T	0.21103	0.0508	N	0.11560	0.145	0.37710	D	0.924543	B;B	0.14012	0.007;0.009	B;B	0.12156	0.004;0.007	T	0.19095	-1.0316	10	0.10377	T	0.69	-15.0418	9.7411	0.40418	0.0:0.1506:0.6937:0.1557	.	243;244	Q9UNS1-2;Q9UNS1	.;TIM_HUMAN	E	243;244;244	ENSP00000229201:Q243E;ENSP00000450607:Q244E;ENSP00000450848:Q244E	ENSP00000229201:Q244E	Q	-	1	0	TIMELESS	55111613	0.650000	0.27331	1.000000	0.80357	0.986000	0.74619	1.880000	0.39628	2.715000	0.92844	0.655000	0.94253	CAG		0.552	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		7	55	0	0	0	1	0	7	55				
PRR5L	79899	broad.mit.edu	37	11	36484194	36484194	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:36484194G>C	ENST00000378867.3	+	10	1370	c.1015G>C	c.(1015-1017)Gag>Cag	p.E339Q	PRR5L_ENST00000530639.1_Missense_Mutation_p.E339Q|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000311599.5_Missense_Mutation_p.E266Q	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	339					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|regulation of fibroblast migration (GO:0010762)|TORC2 signaling (GO:0038203)	mitochondrion (GO:0005739)|TORC2 complex (GO:0031932)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						GTGCTCCAGTGAGCCCAACAT	0.667																																						ENST00000378867.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						c.(1015-1017)Gag>Cag		proline rich 5 like							31.0	32.0	31.0					11																	36484194		2202	4297	6499	SO:0001583	missense	79899							g.chr11:36484194G>C		CCDS31463.1, CCDS53617.1	11p13-p12	2009-07-09				ENSG00000135362			25878	protein-coding gene	gene with protein product	"""protein observed with Rictor-2"""	611728				17461779	Standard	NM_024841		Approved	FLJ14213, PROTOR-2	uc001mwp.3	Q6MZQ0		ENST00000378867.3:c.1015G>C	11.37:g.36484194G>C	ENSP00000368144:p.Glu339Gln					PRR5L_ENST00000311599.5_Missense_Mutation_p.E266Q|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000530639.1_Missense_Mutation_p.E339Q	p.E339Q	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN			10	1370	+			339					A4QN22|E9PKY1|Q96H46|Q9H7V4	Missense_Mutation	SNP	ENST00000378867.3	37	c.1015G>C	CCDS31463.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395235	0.62066	.	.	ENSG00000135362	ENST00000530639;ENST00000311599;ENST00000378867	D;D;D	0.81908	-1.55;-1.55;-1.55	5.41	5.41	0.78517	.	0.058176	0.64402	D	0.000002	D	0.87826	0.6275	L	0.36672	1.1	0.49483	D	0.999792	P;D	0.76494	0.946;0.999	P;D	0.81914	0.723;0.995	D	0.88464	0.3057	10	0.59425	D	0.04	-22.5054	19.2048	0.93726	0.0:0.0:1.0:0.0	.	211;339	Q6MZQ0-3;Q6MZQ0	.;PRR5L_HUMAN	Q	339;266;339	ENSP00000435050:E339Q;ENSP00000310103:E266Q;ENSP00000368144:E339Q	ENSP00000310103:E266Q	E	+	1	0	PRR5L	36440770	1.000000	0.71417	0.981000	0.43875	0.354000	0.29330	6.112000	0.71547	2.534000	0.85438	0.555000	0.69702	GAG		0.667	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389209.1	NM_024841		11	38	0	0	0	1	0	11	38				
CHD9	80205	broad.mit.edu	37	16	53340214	53340214	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr16:53340214G>A	ENST00000398510.3	+	31	6772	c.6685G>A	c.(6685-6687)Gag>Aag	p.E2229K	CHD9_ENST00000566029.1_Missense_Mutation_p.E2229K|CHD9_ENST00000447540.1_Missense_Mutation_p.E2230K|CHD9_ENST00000564845.1_Missense_Mutation_p.E2229K			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2229					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TACCCAGGATGAGACTCAGGA	0.398																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(6685-6687)Gag>Aag		chromodomain helicase DNA binding protein 9							93.0	92.0	93.0					16																	53340214		1907	4117	6024	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53340214G>A	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.6685G>A	16.37:g.53340214G>A	ENSP00000381522:p.Glu2229Lys					CHD9_ENST00000447540.1_Missense_Mutation_p.E2230K|CHD9_ENST00000564845.1_Missense_Mutation_p.E2229K|CHD9_ENST00000398510.3_Missense_Mutation_p.E2229K	p.E2229K			Q3L8U1	CHD9_HUMAN			32	6894	+		all_cancers(37;0.0212)	2229					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.6685G>A		.	.	.	.	.	.	.	.	.	.	G	27.5	4.834798	0.91036	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D;D	0.90069	-2.48;-2.61	5.88	5.88	0.94601	.	0.000000	0.64402	D	0.000007	D	0.92941	0.7754	L	0.54323	1.7	0.58432	D	0.999999	D;D;D;D;D	0.71674	0.997;0.997;0.972;0.997;0.998	P;D;P;D;D	0.73380	0.877;0.98;0.737;0.95;0.969	D	0.89901	0.4044	10	0.23891	T	0.37	-17.1832	20.2422	0.98381	0.0:0.0:1.0:0.0	.	295;2229;2230;2229;2229	C9JR69;B7ZML1;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;.;CHD9_HUMAN;.	K	2230;2229;295	ENSP00000396345:E2230K;ENSP00000381522:E2229K	ENSP00000381522:E2229K	E	+	1	0	CHD9	51897715	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.168000	0.94781	2.788000	0.95919	0.650000	0.86243	GAG		0.398	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		4	38	0	0	0	1	0	4	38				
CEP89	84902	broad.mit.edu	37	19	33370197	33370197	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:33370197C>T	ENST00000305768.5	-	19	2311	c.2223G>A	c.(2221-2223)acG>acA	p.T741T	CTD-2085J24.4_ENST00000586628.2_lincRNA	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	741					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CGCCTGTCCTCGTGAGTGTGT	0.532																																						ENST00000305768.4																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						c.(2221-2223)acG>acA		centrosomal protein 89kDa							165.0	160.0	162.0					19																	33370197		2203	4300	6503	SO:0001819	synonymous_variant	84902					centrosome|spindle pole		g.chr19:33370197C>T	AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"""coiled-coil domain containing 123"""	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.2223G>A	19.37:g.33370197C>T							p.T741T	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN			19	2311	-			741					B9EGA6|Q8N5J8	Silent	SNP	ENST00000305768.5	37	c.2223G>A	CCDS32987.1																																																																																				0.532	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816		5	217	0	0	0	1	0	5	217				
KIAA0907	22889	broad.mit.edu	37	1	155887352	155887352	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:155887352G>C	ENST00000368321.3	-	11	1401	c.1378C>G	c.(1378-1380)Cag>Gag	p.Q460E	KIAA0907_ENST00000368320.3_Missense_Mutation_p.Q460E|SNORA42_ENST00000384744.1_RNA	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	460							RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CGTCTCTTCTGTGCCTGGGGC	0.537																																						ENST00000368320.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(1378-1380)Cag>Gag		KIAA0907							93.0	102.0	99.0					1																	155887352		2203	4300	6503	SO:0001583	missense	22889							g.chr1:155887352G>C	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1378C>G	1.37:g.155887352G>C	ENSP00000357304:p.Gln460Glu					KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q460E	p.Q460E			Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		11	1403	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		460					O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	c.1378C>G	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835616	0.71373	.	.	ENSG00000132680	ENST00000368321;ENST00000368320	T;T	0.35605	1.3;1.3	5.87	5.87	0.94306	.	0.104224	0.64402	D	0.000002	T	0.44201	0.1282	L	0.32530	0.975	0.80722	D	1	P;P	0.52577	0.954;0.954	D;D	0.67900	0.954;0.932	T	0.24870	-1.0148	10	0.56958	D	0.05	-7.1983	20.1777	0.98189	0.0:0.0:1.0:0.0	.	460;460	Q7Z7F0-2;Q7Z7F0	.;K0907_HUMAN	E	460	ENSP00000357304:Q460E;ENSP00000357303:Q460E	ENSP00000357303:Q460E	Q	-	1	0	KIAA0907	154153976	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.358000	0.97109	2.941000	0.99782	0.655000	0.94253	CAG		0.537	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		18	158	0	0	0	1	0	18	158				
OR2T34	127068	broad.mit.edu	37	1	248737522	248737522	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:248737522G>A	ENST00000328782.2	-	1	558	c.537C>T	c.(535-537)atC>atT	p.I179I		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	179						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAAAACTCAGGATTTTCCTAG	0.522																																						ENST00000328782.2																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43						c.(535-537)atC>atT		olfactory receptor, family 2, subfamily T, member 34							56.0	70.0	66.0					1																	248737522		2158	4297	6455	SO:0001819	synonymous_variant	127068				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248737522G>A	BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"""GPCR / Class A : Olfactory receptors"""	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.537C>T	1.37:g.248737522G>A							p.I179I	NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	558	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		179					B2RNJ8|Q6IEY5|Q96R31	Silent	SNP	ENST00000328782.2	37	c.537C>T	CCDS31120.1																																																																																				0.522	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097138.1	NM_001001821		20	43	0	0	0	1	0	20	43				
CCNI	10983	broad.mit.edu	37	4	77969711	77969711	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:77969711G>A	ENST00000237654.4	-	7	1371	c.795C>T	c.(793-795)ctC>ctT	p.L265L	CCNI_ENST00000537948.1_Silent_p.L251L	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN	cyclin I	265					regulation of cell cycle (GO:0051726)|spermatogenesis (GO:0007283)					NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						GGGTGTGCTTGAGGGGACGGT	0.527																																						ENST00000237654.4																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						c.(793-795)ctC>ctT		cyclin I							109.0	100.0	103.0					4																	77969711		2203	4300	6503	SO:0001819	synonymous_variant	10983				spermatogenesis			g.chr4:77969711G>A	D50310	CCDS3580.1	4q21.1	2014-07-03			ENSG00000118816	ENSG00000118816			1595	protein-coding gene	gene with protein product						7493655	Standard	NM_006835		Approved	CCNI1	uc003hkm.3	Q14094	OTTHUMG00000130106	ENST00000237654.4:c.795C>T	4.37:g.77969711G>A						CCNI_ENST00000537948.1_Silent_p.L251L	p.L265L	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN			7	1371	-			265					B2R6M0|B7Z6X4	Silent	SNP	ENST00000237654.4	37	c.795C>T	CCDS3580.1	.	.	.	.	.	.	.	.	.	.	G	6.384	0.438998	0.12104	.	.	ENSG00000118816	ENST00000515468	.	.	.	5.91	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.5787	11.9263	0.52820	0.1381:0.0:0.8619:0.0	.	.	.	.	X	65	.	.	Q	-	1	0	CCNI	78188735	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.190000	0.50973	1.506000	0.48736	0.655000	0.94253	CAA		0.527	CCNI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252412.2	NM_006835		11	82	0	0	0	1	0	11	82				
DNAH5	1767	broad.mit.edu	37	5	13753449	13753449	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:13753449G>C	ENST00000265104.4	-	63	10869	c.10765C>G	c.(10765-10767)Caa>Gaa	p.Q3589E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3589	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATTCCATTTTGAATGGACAAG	0.383									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(10765-10767)Caa>Gaa		dynein, axonemal, heavy chain 5							122.0	113.0	116.0					5																	13753449		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13753449G>C	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10765C>G	5.37:g.13753449G>C	ENSP00000265104:p.Gln3589Glu						p.Q3589E	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			63	10869	-	Lung NSC(4;0.00476)		3589			AAA 5 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.10765C>G	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	32	5.150543	0.94645	.	.	ENSG00000039139	ENST00000265104	T	0.20069	2.1	5.76	5.76	0.90799	.	0.053389	0.85682	D	0.000000	T	0.32255	0.0823	N	0.20328	0.56	0.80722	D	1	D	0.55172	0.97	D	0.65140	0.932	T	0.02047	-1.1223	10	0.30078	T	0.28	.	20.3431	0.98773	0.0:0.0:1.0:0.0	.	3589	Q8TE73	DYH5_HUMAN	E	3589	ENSP00000265104:Q3589E	ENSP00000265104:Q3589E	Q	-	1	0	DNAH5	13806449	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.358000	0.97109	2.880000	0.98712	0.650000	0.86243	CAA		0.383	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		11	57	0	0	0	1	0	11	57				
LOC101927648	101927648	broad.mit.edu	37	1	143403554	143403554	+	lincRNA	SNP	T	T	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:143403554T>G	ENST00000423249.1	-	0	59																											GGAACAGGATTTCTTTGGCCA	0.468																																						ENST00000423249.1																			0																																																			0							g.chr1:143403554T>G																													1.37:g.143403554T>G														0	59	-									RNA	SNP	ENST00000423249.1	37																																																																																						0.468	RP11-435B5.4-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000037552.1			3	10	0	0	0	1	0	3	10				
TP53	7157	broad.mit.edu	37	17	7578534	7578534	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:7578534C>A	ENST00000269305.4	-	5	585	c.396G>T	c.(394-396)aaG>aaT	p.K132N	TP53_ENST00000359597.4_Missense_Mutation_p.K132N|TP53_ENST00000455263.2_Missense_Mutation_p.K132N|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.K132N|TP53_ENST00000420246.2_Missense_Mutation_p.K132N|TP53_ENST00000445888.2_Missense_Mutation_p.K132N	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	132	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.K132N(49)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.K39N(2)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132K(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.M133fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCAAAACATCTTGTTGAGGG	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		77	Substitution - Missense(51)|Deletion - In frame(10)|Whole gene deletion(8)|Deletion - Frameshift(6)|Insertion - Frameshift(1)|Substitution - coding silent(1)	p.K132N(49)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.K39N(2)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132K(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.M133fs*16(1)	urinary_tract(13)|breast(10)|ovary(10)|lung(9)|large_intestine(8)|haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(4)|bone(4)|adrenal_gland(3)|upper_aerodigestive_tract(2)|skin(2)|liver(2)|stomach(1)|penis(1)|oesophagus(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(394-396)aaG>aaT	Other conserved DNA damage response genes	tumor protein p53							47.0	48.0	48.0					17																	7578534		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578534C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.396G>T	17.37:g.7578534C>A	ENSP00000269305:p.Lys132Asn	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.K132N|TP53_ENST00000359597.4_Missense_Mutation_p.K132N|TP53_ENST00000455263.2_Missense_Mutation_p.K132N|TP53_ENST00000445888.2_Missense_Mutation_p.K132N|TP53_ENST00000413465.2_Missense_Mutation_p.K132N	p.K132N	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	528	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	132		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.396G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186174	0.78789	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793	D;D;D;D;D;D;D;D	0.99859	-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23	5.48	3.5	0.40072	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99857	0.9933	M	0.91768	3.24	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.998;0.993;0.996;0.999;0.998;1.0	D	0.97328	0.9948	10	0.87932	D	0	-14.0777	10.5581	0.45129	0.0:0.841:0.0:0.159	.	93;132;132;39;132;132;132	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	N	132;132;132;132;132;132;121;39;39;132	ENSP00000410739:K132N;ENSP00000352610:K132N;ENSP00000269305:K132N;ENSP00000398846:K132N;ENSP00000391127:K132N;ENSP00000391478:K132N;ENSP00000423862:K39N;ENSP00000424104:K132N	ENSP00000269305:K132N	K	-	3	2	TP53	7519259	1.000000	0.71417	0.994000	0.49952	0.784000	0.44337	1.646000	0.37249	0.804000	0.34136	0.655000	0.94253	AAG		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		25	32	1	0	1.64293e-13	1	1.80019e-13	25	32				
PCNT	5116	broad.mit.edu	37	21	47831535	47831535	+	Missense_Mutation	SNP	G	G	A	rs375046076		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr21:47831535G>A	ENST00000359568.5	+	28	5655	c.5548G>A	c.(5548-5550)Gaa>Aaa	p.E1850K	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1850					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GGCTGAGGTCGAAGACATGGC	0.617																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(5548-5550)Gaa>Aaa		pericentrin		G	LYS/GLU	0,4404		0,0,2202	29.0	34.0	32.0		5548	-2.4	0.0	21		32	1,8595		0,1,4297	no	missense	PCNT	NM_006031.5	56	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	benign	1850/3337	47831535	1,12999	2202	4298	6500	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47831535G>A	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.5548G>A	21.37:g.47831535G>A	ENSP00000352572:p.Glu1850Lys					PCNT_ENST00000480896.1_3'UTR	p.E1850K	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			28	5655	+	Breast(49;0.112)		1850					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.5548G>A	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	G	3.045	-0.196709	0.06259	0.0	1.16E-4	ENSG00000160299	ENST00000359568	T	0.01572	4.76	5.79	-2.41	0.06562	.	0.827186	0.09856	N	0.746954	T	0.01661	0.0053	N	0.24115	0.695	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.06405	0.002;0.001	T	0.42865	-0.9426	10	0.32370	T	0.25	.	13.925	0.63958	0.1477:0.6371:0.2152:0.0	.	1732;1850	O95613-2;O95613	.;PCNT_HUMAN	K	1850	ENSP00000352572:E1850K	ENSP00000352572:E1850K	E	+	1	0	PCNT	46655963	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.716000	0.04991	-0.343000	0.08351	-0.778000	0.03378	GAA		0.617	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		7	60	0	0	0	1	0	7	60				
PDCL	5082	broad.mit.edu	37	9	125588934	125588934	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr9:125588934C>G	ENST00000259467.4	-	2	298	c.133G>C	c.(133-135)Gag>Cag	p.E45Q		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	45					heterotrimeric G-protein complex assembly (GO:1902605)|intracellular signal transduction (GO:0035556)|negative regulation of protein refolding (GO:0061084)|protein folding (GO:0006457)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						AGCTCAGCCTCTGCAGGCACA	0.502																																						ENST00000259467.4																			0				endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						c.(133-135)Gag>Cag		phosducin-like							84.0	72.0	76.0					9																	125588934		2203	4300	6503	SO:0001583	missense	5082				signal transduction|visual perception			g.chr9:125588934C>G	AF083325	CCDS6845.1	9q12-q13	2008-07-21			ENSG00000136940	ENSG00000136940			8770	protein-coding gene	gene with protein product		604421				10095058	Standard	NM_005388		Approved	PhLP, DKFZp564M1863	uc004bmz.2	Q13371	OTTHUMG00000020624	ENST00000259467.4:c.133G>C	9.37:g.125588934C>G	ENSP00000259467:p.Glu45Gln						p.E45Q	NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN			2	298	-			45					Q4VXB6|Q96AF1|Q9UEW7|Q9UFL0|Q9UNX1|Q9UNX2	Missense_Mutation	SNP	ENST00000259467.4	37	c.133G>C	CCDS6845.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.50|14.50	2.553951|2.553951	0.45487|0.45487	.|.	.|.	ENSG00000136940|ENSG00000136940	ENST00000259467|ENST00000436632;ENST00000394285	T|.	0.53206|.	0.63|.	5.47|5.47	5.47|5.47	0.80525|0.80525	Phosducin, thioredoxin-like domain (1);|.	0.137863|.	0.64402|.	D|.	0.000005|.	T|T	0.72112|0.72112	0.3420|0.3420	L|L	0.57536|0.57536	1.79|1.79	0.58432|0.58432	D|D	0.999995|0.999995	B;B|.	0.32467|.	0.372;0.372|.	B;B|.	0.37650|.	0.255;0.255|.	T|T	0.69254|0.69254	-0.5193|-0.5193	10|5	0.21540|.	T|.	0.41|.	-6.1746|-6.1746	18.3198|18.3198	0.90234|0.90234	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	45;45|.	Q4VXB6;Q13371|.	.;PHLP_HUMAN|.	Q|T	45|11;33	ENSP00000259467:E45Q|.	ENSP00000259467:E45Q|.	E|R	-|-	1|2	0|0	PDCL|PDCL	124628755|124628755	0.999000|0.999000	0.42202|0.42202	0.897000|0.897000	0.35233|0.35233	0.764000|0.764000	0.43329|0.43329	7.024000|7.024000	0.76443|0.76443	2.569000|2.569000	0.86673|0.86673	0.563000|0.563000	0.77884|0.77884	GAG|AGA		0.502	PDCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053956.1	NM_005388		6	45	0	0	0	1	0	6	45				
PTPN13	5783	broad.mit.edu	37	4	87724875	87724875	+	Silent	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:87724875G>C	ENST00000411767.2	+	43	6582	c.6519G>C	c.(6517-6519)ctG>ctC	p.L2173L	PTPN13_ENST00000511467.1_Silent_p.L2178L|PTPN13_ENST00000316707.6_Silent_p.L1982L|PTPN13_ENST00000436978.1_Silent_p.L2178L|PTPN13_ENST00000427191.2_Silent_p.L2154L			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2173					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ATTCCTTTCTGACAAACGATG	0.423																																						ENST00000436978.1																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(6532-6534)ctG>ctC		protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)							160.0	150.0	153.0					4																	87724875		1899	4113	6012	SO:0001819	synonymous_variant	0					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87724875G>C		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.6519G>C	4.37:g.87724875G>C						PTPN13_ENST00000316707.6_Silent_p.L1982L|PTPN13_ENST00000427191.2_Silent_p.L2154L|PTPN13_ENST00000411767.2_Silent_p.L2173L|PTPN13_ENST00000511467.1_Silent_p.L2178L	p.L2178L	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	43	7014	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	2173					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Silent	SNP	ENST00000411767.2	37	c.6534G>C	CCDS47094.1																																																																																				0.423	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			8	82	0	0	0	1	0	8	82				
PKN1	5585	broad.mit.edu	37	19	14578566	14578566	+	Missense_Mutation	SNP	C	C	G	rs372299413		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:14578566C>G	ENST00000242783.6	+	14	2010	c.1845C>G	c.(1843-1845)ttC>ttG	p.F615L	PKN1_ENST00000342216.4_Missense_Mutation_p.F621L	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	615	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						TCGAAGATTTCAAGTTCCTGG	0.632																																					NSCLC(185;2539 2965 10733 52867)	ENST00000242783.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1843-1845)ttC>ttG		protein kinase N1							56.0	63.0	61.0					19																	14578566		1963	4139	6102	SO:0001583	missense	5585				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	g.chr19:14578566C>G	S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"""protein kinase C-like 1"""	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.1845C>G	19.37:g.14578566C>G	ENSP00000242783:p.Phe615Leu					PKN1_ENST00000342216.4_Missense_Mutation_p.F621L	p.F615L	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN			14	2010	+			615			Protein kinase.		A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Missense_Mutation	SNP	ENST00000242783.6	37	c.1845C>G	CCDS42513.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.137127	0.77775	.	.	ENSG00000123143	ENST00000242783;ENST00000342216	T;T	0.32988	1.43;1.43	4.0	2.95	0.34219	Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000001	T	0.44074	0.1276	L	0.48642	1.525	0.47214	D	0.99935	D;D	0.69078	0.996;0.997	D;D	0.74348	0.971;0.983	T	0.36311	-0.9753	10	0.87932	D	0	-28.0763	9.5382	0.39235	0.0:0.8924:0.0:0.1076	.	621;615	Q16512-2;Q16512	.;PKN1_HUMAN	L	615;621	ENSP00000242783:F615L;ENSP00000343325:F621L	ENSP00000242783:F615L	F	+	3	2	PKN1	14439566	0.321000	0.24625	1.000000	0.80357	0.927000	0.56198	0.699000	0.25586	1.023000	0.39654	0.462000	0.41574	TTC		0.632	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		7	74	0	0	0	1	0	7	74				
SMARCA5	8467	broad.mit.edu	37	4	144445612	144445612	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:144445612C>G	ENST00000283131.3	+	4	974	c.512C>G	c.(511-513)tCt>tGt	p.S171C		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	171					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					TTTGAAGACTCTCCATCGTGT	0.378																																						ENST00000283131.3																		EWSR1/SMARCA5(2)	0				endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(511-513)tCt>tGt		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5							102.0	100.0	100.0					4																	144445612		2203	4300	6503	SO:0001583	missense	8467				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding	g.chr4:144445612C>G	AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.512C>G	4.37:g.144445612C>G	ENSP00000283131:p.Ser171Cys						p.S171C	NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN			4	974	+	all_hematologic(180;0.158)		171						Missense_Mutation	SNP	ENST00000283131.3	37	c.512C>G	CCDS3761.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.172336	0.78452	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	D	0.93712	-3.27	5.55	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.96920	0.8994	M	0.89785	3.06	0.58432	D	0.999998	D	0.76494	0.999	D	0.66847	0.947	D	0.97499	1.0059	10	0.87932	D	0	-2.5563	14.1626	0.65457	0.0:0.9278:0.0:0.0722	.	171	O60264	SMCA5_HUMAN	C	171;114;114	ENSP00000283131:S171C	ENSP00000283131:S171C	S	+	2	0	SMARCA5	144665062	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.617000	0.61204	1.337000	0.45525	0.591000	0.81541	TCT		0.378	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3			5	41	0	0	0	1	0	5	41				
TSGA13	114960	broad.mit.edu	37	7	130356587	130356587	+	Nonsense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:130356587G>C	ENST00000456951.1	-	8	1423	c.572C>G	c.(571-573)tCa>tGa	p.S191*	COPG2_ENST00000445977.2_5'Flank|TSGA13_ENST00000356588.3_Nonsense_Mutation_p.S191*			Q96PP4	TSG13_HUMAN	testis specific, 13	191										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					GTAGACTTTTGAATACTTCCC	0.423																																						ENST00000456951.1																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18						c.(571-573)tCa>tGa		testis specific, 13							187.0	178.0	181.0					7																	130356587		2203	4300	6503	SO:0001587	stop_gained	114960							g.chr7:130356587G>C	AK093329	CCDS5824.1	7q32	2008-02-04			ENSG00000213265	ENSG00000213265			12369	protein-coding gene	gene with protein product							Standard	NM_052933		Approved		uc003vqi.3	Q96PP4	OTTHUMG00000154999	ENST00000456951.1:c.572C>G	7.37:g.130356587G>C	ENSP00000406047:p.Ser191*					TSGA13_ENST00000356588.3_Nonsense_Mutation_p.S191*	p.S191*			Q96PP4	TSG13_HUMAN			8	1423	-	Melanoma(18;0.0435)		191					B3KSC9	Nonsense_Mutation	SNP	ENST00000456951.1	37	c.572C>G	CCDS5824.1	.	.	.	.	.	.	.	.	.	.	G	36	5.853699	0.97030	.	.	ENSG00000213265	ENST00000456951;ENST00000418126;ENST00000356588	.	.	.	5.46	4.58	0.56647	.	0.000000	0.43110	D	0.000617	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-13.4278	10.1426	0.42744	0.0923:0.0:0.9077:0.0	.	.	.	.	X	191	.	ENSP00000348996:S191X	S	-	2	0	TSGA13	130007127	0.997000	0.39634	0.692000	0.30179	0.294000	0.27393	2.240000	0.43088	1.310000	0.45006	0.555000	0.69702	TCA		0.423	TSGA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337997.1	NM_052933		14	57	0	0	0	1	0	14	57				
WRN	7486	broad.mit.edu	37	8	30989971	30989971	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr8:30989971C>G	ENST00000298139.5	+	24	3165	c.2916C>G	c.(2914-2916)atC>atG	p.I972M		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	972					aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTGTGGACATCTTAGGCGAAA	0.368			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"""Mis, N, F, S"""	Werner syndrome (RECQL2)			"""L, E, M, O"""		"""osteosarcoma, meningioma, others"""			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(2914-2916)atC>atG	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like							87.0	91.0	90.0					8																	30989971		2203	4300	6503	SO:0001583	missense	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30989971C>G		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.2916C>G	8.37:g.30989971C>G	ENSP00000298139:p.Ile972Met						p.I972M	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	24	3165	+		Breast(100;0.195)	972					A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	c.2916C>G	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	C	9.596	1.127557	0.20959	.	.	ENSG00000165392	ENST00000298139	T	0.41758	0.99	5.45	4.47	0.54385	RQC domain (2);	0.464393	0.22331	N	0.061461	T	0.57562	0.2062	M	0.73962	2.25	0.19775	N	0.999954	B;P	0.34815	0.221;0.47	P;P	0.51516	0.672;0.608	T	0.53578	-0.8419	10	0.49607	T	0.09	-0.4589	9.9619	0.41701	0.0:0.8307:0.0:0.1693	.	382;972	Q59F09;Q14191	.;WRN_HUMAN	M	972	ENSP00000298139:I972M	ENSP00000298139:I972M	I	+	3	3	WRN	31109513	0.381000	0.25140	0.023000	0.16930	0.053000	0.15095	0.843000	0.27640	1.135000	0.42183	0.591000	0.81541	ATC		0.368	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			6	21	0	0	0	1	0	6	21				
MGAT4A	11320	broad.mit.edu	37	2	99294911	99294911	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:99294911C>G	ENST00000264968.3	-	2	481	c.118G>C	c.(118-120)Gaa>Caa	p.E40Q	MGAT4A_ENST00000393487.1_Missense_Mutation_p.E40Q|MGAT4A_ENST00000409391.1_Missense_Mutation_p.E40Q			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	40					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						GCAAGGAATTCTCGTTGATAA	0.338																																						ENST00000393487.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						c.(118-120)Gaa>Caa		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A							84.0	80.0	82.0					2																	99294911		2203	4300	6503	SO:0001583	missense	11320				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr2:99294911C>G	AB000616	CCDS2036.1, CCDS54380.1	2q12	2013-02-25	2005-11-16		ENSG00000071073	ENSG00000071073	2.4.1.145	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7047	protein-coding gene	gene with protein product		604623	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A"""			10024668	Standard	NM_001160154		Approved	GnT-Iva, GnT-4a	uc002sze.3	Q9UM21	OTTHUMG00000130563	ENST00000264968.3:c.118G>C	2.37:g.99294911C>G	ENSP00000264968:p.Glu40Gln					MGAT4A_ENST00000264968.2_Missense_Mutation_p.E40Q|MGAT4A_ENST00000409391.1_Missense_Mutation_p.E40Q	p.E40Q	NM_012214.2	NP_036346.1	Q9UM21	MGT4A_HUMAN			3	431	-			40					B4E2R6|D3DVH6|E9PEN2|Q53S97|Q86Z15	Missense_Mutation	SNP	ENST00000264968.3	37	c.118G>C	CCDS2036.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.073853	0.55646	.	.	ENSG00000071073	ENST00000393487;ENST00000264968;ENST00000409391	T;T;T	0.24723	1.84;1.84;1.84	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.23886	0.0578	L	0.36672	1.1	0.80722	D	1	P	0.48503	0.911	B	0.41332	0.354	T	0.01448	-1.1352	10	0.27082	T	0.32	.	18.359	0.90368	0.0:1.0:0.0:0.0	.	40	Q9UM21	MGT4A_HUMAN	Q	40	ENSP00000377127:E40Q;ENSP00000264968:E40Q;ENSP00000386841:E40Q	ENSP00000264968:E40Q	E	-	1	0	MGAT4A	98661343	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.299000	0.78831	2.576000	0.86940	0.555000	0.69702	GAA		0.338	MGAT4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252988.2	NM_012214		5	26	0	0	0	1	0	5	26				
TASP1	55617	broad.mit.edu	37	20	13463939	13463939	+	Nonsense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:13463939G>C	ENST00000337743.4	-	11	1040	c.920C>G	c.(919-921)tCa>tGa	p.S307*	TASP1_ENST00000480436.1_5'UTR|TASP1_ENST00000539805.1_Missense_Mutation_p.H110D	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	307					positive regulation of transcription, DNA-templated (GO:0045893)		threonine-type endopeptidase activity (GO:0004298)			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						TAAAGCATGTGAACATTCTCT	0.418																																						ENST00000337743.4																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						c.(919-921)tCa>tGa		taspase, threonine aspartase, 1							169.0	157.0	161.0					20																	13463939		2203	4300	6503	SO:0001587	stop_gained	55617				asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity	g.chr20:13463939G>C	AK000219	CCDS13116.1	20p12	2005-10-15	2005-10-15	2005-10-15	ENSG00000089123	ENSG00000089123	3.4.25.-		15859	protein-coding gene	gene with protein product		608270	"""chromosome 20 open reading frame 13"""	C20orf13		14636557	Standard	XR_430268		Approved	FLJ20212, dJ585I14.2	uc002woi.3	Q9H6P5	OTTHUMG00000031904	ENST00000337743.4:c.920C>G	20.37:g.13463939G>C	ENSP00000338624:p.Ser307*					TASP1_ENST00000539805.1_Missense_Mutation_p.H110D|TASP1_ENST00000480436.1_5'UTR	p.S307*	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN			11	1040	-			307					B7Z690|B7Z963|Q5TDU9|Q9BQN0|Q9NQ08|Q9NTS6|Q9NXJ2	Nonsense_Mutation	SNP	ENST00000337743.4	37	c.920C>G	CCDS13116.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.528204|5.528204	0.96446|0.96446	.|.	.|.	ENSG00000089123|ENSG00000089123	ENST00000539805|ENST00000378157;ENST00000337743;ENST00000455532	.|.	.|.	.|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	.|0.144593	.|0.52532	.|D	.|0.000066	T|.	0.78123|.	0.4234|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.77504|.	-0.2563|.	5|.	0.72032|0.52906	D|T	0.01|0.07	-2.3471|-2.3471	19.8454|19.8454	0.96706|0.96706	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	D|X	110|284;307;284	.|.	ENSP00000444062:H110D|ENSP00000338624:S307X	H|S	-|-	1|2	0|0	TASP1|TASP1	13411939|13411939	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	8.792000|8.792000	0.91856|0.91856	2.850000|2.850000	0.98022|0.98022	0.650000|0.650000	0.86243|0.86243	CAC|TCA		0.418	TASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078041.2	NM_017714		9	107	0	0	0	1	0	9	107				
RGS12	6002	broad.mit.edu	37	4	3318236	3318236	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:3318236C>T	ENST00000344733.5	+	2	1243	c.339C>T	c.(337-339)ctC>ctT	p.L113L	RGS12_ENST00000382788.3_Silent_p.L113L|RGS12_ENST00000543385.1_Silent_p.L113L|RGS12_ENST00000336727.3_Silent_p.L113L	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	113					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AAGGGGGACTCTATGAAGGAA	0.488																																						ENST00000336727.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(337-339)ctC>ctT		regulator of G-protein signaling 12							64.0	70.0	68.0					4																	3318236		2203	4300	6503	SO:0001819	synonymous_variant	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3318236C>T	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.339C>T	4.37:g.3318236C>T						RGS12_ENST00000344733.5_Silent_p.L113L|RGS12_ENST00000543385.1_Silent_p.L113L|RGS12_ENST00000382788.3_Silent_p.L113L	p.L113L	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	2	1243	+			113					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Silent	SNP	ENST00000344733.5	37	c.339C>T	CCDS3366.1																																																																																				0.488	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		4	71	0	0	0	1	0	4	71				
MNT	4335	broad.mit.edu	37	17	2303970	2303970	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:2303970G>A	ENST00000174618.4	-	1	442	c.37C>T	c.(37-39)Ctg>Ttg	p.L13L	MNT_ENST00000575394.1_Silent_p.L13L	NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	13					cell aging (GO:0007569)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cell cycle (GO:0051726)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		TGCCATTCCAGGAAGCGGGCC	0.731																																						ENST00000174618.4																			0				endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(37-39)Ctg>Ttg		MAX network transcriptional repressor							15.0	18.0	17.0					17																	2303970		2194	4288	6482	SO:0001819	synonymous_variant	4335				multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr17:2303970G>A	Y13444	CCDS11018.1	17p13.3	2013-11-15	2013-11-15		ENSG00000070444	ENSG00000070444		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	7188	protein-coding gene	gene with protein product	"""myc antagonist"", ""Max-interacting protein"""	603039	"""MAX binding protein"", ""MNT, MAX dimerization protein"""			9598315	Standard	NM_020310		Approved	ROX, MXD6, MAD6, bHLHd3	uc002fur.3	Q99583	OTTHUMG00000090603	ENST00000174618.4:c.37C>T	17.37:g.2303970G>A							p.L13L	NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN		Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)	1	442	-			13					A8K6D1|D3DTI7|Q1ED38	Silent	SNP	ENST00000174618.4	37	c.37C>T	CCDS11018.1																																																																																				0.731	MNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207158.1	NM_020310		9	3	0	0	0	1	0	9	3				
SFRP4	6424	broad.mit.edu	37	7	37951728	37951728	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:37951728G>A	ENST00000436072.2	-	4	1161	c.784C>T	c.(784-786)Cgc>Tgc	p.R262C	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	262	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TACCTTGAGCGCCACTCGTAA	0.443																																						ENST00000436072.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(784-786)Cgc>Tgc		secreted frizzled-related protein 4							160.0	151.0	154.0					7																	37951728		2203	4300	6503	SO:0001583	missense	6424				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:37951728G>A	AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"""Secreted frizzled-related proteins"""	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.784C>T	7.37:g.37951728G>A	ENSP00000410715:p.Arg262Cys					EPDR1_ENST00000476620.1_Intron	p.R262C	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN			4	1161	-			262			NTR.		B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Missense_Mutation	SNP	ENST00000436072.2	37	c.784C>T	CCDS5453.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152606	0.78001	.	.	ENSG00000106483	ENST00000436072;ENST00000446575;ENST00000447200	T;T	0.32515	1.45;1.45	5.72	5.72	0.89469	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.158648	0.53938	D	0.000054	T	0.53351	0.1791	L	0.55990	1.75	0.58432	D	0.999997	D	0.89917	1.0	D	0.76071	0.987	T	0.52381	-0.8583	10	0.87932	D	0	.	18.6559	0.91453	0.0:0.0:1.0:0.0	.	262	Q6FHJ7	SFRP4_HUMAN	C	262;259;128	ENSP00000410715:R262C;ENSP00000402262:R128C	ENSP00000410715:R262C	R	-	1	0	SFRP4	37918253	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.138000	0.64795	2.684000	0.91462	0.650000	0.86243	CGC		0.443	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2	NM_003014		7	61	0	0	0	1	0	7	61				
HERC2P9	440248	broad.mit.edu	37	15	28900755	28900755	+	RNA	SNP	A	A	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:28900755A>G	ENST00000528584.1	+	0	162					NR_036443.1				hect domain and RLD 2 pseudogene 9																		TCCCTGACTCAGTGGAATGGG	0.617																																						ENST00000528584.1																			0																																																			0							g.chr15:28900755A>G	BC047911		15q13.1	2011-05-24			ENSG00000206149	ENSG00000206149			30495	pseudogene	pseudogene							Standard	NR_036443		Approved	FLJ59185	uc010azc.3		OTTHUMG00000167114		15.37:g.28900755A>G								NR_036443.1						0	162	+									RNA	SNP	ENST00000528584.1	37																																																																																						0.617	HERC2P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393268.1	NR_036443		4	28	0	0	0	1	0	4	28				
AGR3	155465	broad.mit.edu	37	7	16901059	16901059	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:16901059C>G	ENST00000310398.2	-	6	386	c.316G>C	c.(316-318)Gat>Cat	p.D106H	AGR3_ENST00000402239.3_Missense_Mutation_p.D106H	NM_176813.3	NP_789783.1	Q8TD06	AGR3_HUMAN	anterior gradient 3	106						extracellular region (GO:0005576)	dystroglycan binding (GO:0002162)			central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		AAATTCTTATCAGTGGTTTCA	0.318																																						ENST00000310398.2																			0				central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13						c.(316-318)Gat>Cat		anterior gradient 3							116.0	114.0	115.0					7																	16901059		2203	4297	6500	SO:0001583	missense	155465					extracellular region		g.chr7:16901059C>G	AY069977	CCDS5365.1	7p21.1	2013-07-31	2013-07-31		ENSG00000173467	ENSG00000173467		"""Protein disulfide isomerases"""	24167	protein-coding gene	gene with protein product	"""breast cancer membrane protein 11"", ""protein disulfide isomerase family A, member 18"""	609482	"""anterior gradient 3 homolog (Xenopus laevis)"""			12592373, 12477722	Standard	NM_176813		Approved	HAG3, hAG-3, BCMP11, PDIA18	uc003sts.3	Q8TD06	OTTHUMG00000128411	ENST00000310398.2:c.316G>C	7.37:g.16901059C>G	ENSP00000308606:p.Asp106His					AGR3_ENST00000402239.3_Missense_Mutation_p.D106H	p.D106H	NM_176813.3	NP_789783.1	Q8TD06	AGR3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.184)	6	386	-	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)		106					A4D120	Missense_Mutation	SNP	ENST00000310398.2	37	c.316G>C	CCDS5365.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.60|18.60	3.658920|3.658920	0.67586|0.67586	.|.	.|.	ENSG00000173467|ENSG00000173467	ENST00000310398;ENST00000402239|ENST00000414935	T;T|.	0.47177|.	0.85;0.85|.	4.81|4.81	4.81|4.81	0.61882|0.61882	Thioredoxin-like fold (2);|.	0.000000|.	0.64402|.	D|.	0.000015|.	D|.	0.83635|.	0.5297|.	M|M	0.89414|0.89414	3.03|3.03	0.49915|0.49915	D|D	0.999838|0.999838	D|.	0.89917|.	1.0|.	D|.	0.73708|.	0.981|.	D|.	0.87055|.	0.2149|.	10|.	0.56958|.	D|.	0.05|.	0.2005|0.2005	17.4945|17.4945	0.87713|0.87713	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	106|.	Q8TD06|.	AGR3_HUMAN|.	H|S	106|84	ENSP00000308606:D106H;ENSP00000386016:D106H|.	ENSP00000308606:D106H|.	D|X	-|-	1|2	0|2	AGR3|AGR3	16867584|16867584	1.000000|1.000000	0.71417|0.71417	0.888000|0.888000	0.34837|0.34837	0.891000|0.891000	0.51852|0.51852	5.862000|5.862000	0.69560|0.69560	2.223000|2.223000	0.72356|0.72356	0.655000|0.655000	0.94253|0.94253	GAT|TGA		0.318	AGR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250191.2	NM_176813		5	53	0	0	0	1	0	5	53				
CP	1356	broad.mit.edu	37	3	148899820	148899820	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:148899820C>G	ENST00000264613.6	-	14	2788	c.2526G>C	c.(2524-2526)gaG>gaC	p.E842D		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	842	F5/8 type A 3.|Plastocyanin-like 5.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CTGTAGAACTCTCTGTTTGTA	0.468																																						ENST00000264613.6																			0				breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2524-2526)gaG>gaC		ceruloplasmin (ferroxidase)	Drotrecogin alfa(DB00055)						156.0	150.0	152.0					3																	148899820		2203	4300	6503	SO:0001583	missense	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148899820C>G	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.2526G>C	3.37:g.148899820C>G	ENSP00000264613:p.Glu842Asp						p.E842D	NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		14	2788	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	842			F5/8 type A 3.|Plastocyanin-like 5.		Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	c.2526G>C	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.240955	0.22711	.	.	ENSG00000047457	ENST00000264613;ENST00000494544	D;D	0.99474	-5.97;-5.97	6.17	-5.51	0.02568	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.934915	0.09121	N	0.845734	D	0.95211	0.8447	N	0.10760	0.04	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	D	0.93768	0.7072	10	0.10377	T	0.69	-3.3789	7.7476	0.28877	0.0893:0.1357:0.5759:0.1991	.	842;842;842	A8K5A4;P00450;Q1L857	.;CERU_HUMAN;.	D	842;625	ENSP00000264613:E842D;ENSP00000420545:E625D	ENSP00000264613:E842D	E	-	3	2	CP	150382510	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	-1.636000	0.02016	-0.607000	0.05738	-0.175000	0.13238	GAG		0.468	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		11	88	0	0	0	1	0	11	88				
PIEZO1	9780	broad.mit.edu	37	16	88780614	88780614	+	IGR	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr16:88780614C>T	ENST00000301015.9	-	0	8072				CTU2_ENST00000312060.5_Missense_Mutation_p.S359F|CTU2_ENST00000567949.1_Missense_Mutation_p.S430F|CTU2_ENST00000453996.2_Missense_Mutation_p.S359F|CTU2_ENST00000378384.3_Missense_Mutation_p.S272F|MIR4722_ENST00000578292.1_RNA	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						CAGTTCCCCTCCACTGTCAGC	0.627																																						ENST00000567949.1																			0				NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						c.(1288-1290)tCc>tTc		cytosolic thiouridylase subunit 2 homolog (S. pombe)							81.0	73.0	76.0					16																	88780614		2190	4296	6486	SO:0001628	intergenic_variant	348180				tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding	g.chr16:88780614C>T	D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776		16.37:g.88780614C>T						CTU2_ENST00000453996.2_Missense_Mutation_p.S359F|CTU2_ENST00000312060.5_Missense_Mutation_p.S359F|CTU2_ENST00000378384.3_Missense_Mutation_p.S272F	p.S430F			Q2VPK5	CTU2_HUMAN			10	1298	+			359					A6NHT9|A7E2B7|Q0KKZ9	Missense_Mutation	SNP	ENST00000301015.9	37	c.1289C>T	CCDS54058.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.203364	0.79127	.	.	ENSG00000174177	ENST00000378384;ENST00000312060;ENST00000453996	T;T;T	0.53206	0.63;0.63;0.63	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.69133	0.3077	M	0.71206	2.165	0.80722	D	1	D;D;D	0.89917	0.996;0.996;1.0	P;P;D	0.97110	0.892;0.881;1.0	T	0.73100	-0.4089	10	0.87932	D	0	.	18.1689	0.89737	0.0:1.0:0.0:0.0	.	272;359;359	Q2VPK5-3;Q2VPK5-5;Q2VPK5	.;.;CTU2_HUMAN	F	272;359;359	ENSP00000367635:S272F;ENSP00000308617:S359F;ENSP00000388320:S359F	ENSP00000308617:S359F	S	+	2	0	CTU2	87308115	0.998000	0.40836	0.981000	0.43875	0.810000	0.45777	3.309000	0.51903	2.466000	0.83321	0.561000	0.74099	TCC		0.627	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345699.4	NM_014745		8	58	0	0	0	1	0	8	58				
MUC17	140453	broad.mit.edu	37	7	100683260	100683260	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:100683260G>A	ENST00000306151.4	+	3	8627	c.8563G>A	c.(8563-8565)Gaa>Aaa	p.E2855K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2855	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACAACTGCTGAAGGTATCGT	0.507																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(8563-8565)Gaa>Aaa		mucin 17, cell surface associated							254.0	261.0	259.0					7																	100683260		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683260G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8563G>A	7.37:g.100683260G>A	ENSP00000302716:p.Glu2855Lys						p.E2855K	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	8627	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2855			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8563G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	8.378	0.836910	0.16891	.	.	ENSG00000169876	ENST00000306151	T	0.02631	4.22	1.06	0.0971	0.14493	.	.	.	.	.	T	0.02767	0.0083	N	0.24115	0.695	0.09310	N	1	P	0.46578	0.88	P	0.50270	0.636	T	0.30238	-0.9985	9	0.07482	T	0.82	.	5.6042	0.17371	0.2127:0.0:0.7873:0.0	.	2855	Q685J3	MUC17_HUMAN	K	2855	ENSP00000302716:E2855K	ENSP00000302716:E2855K	E	+	1	0	MUC17	100469980	0.002000	0.14202	0.001000	0.08648	0.019000	0.09904	0.850000	0.27737	0.033000	0.15463	0.134000	0.15878	GAA		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		8	586	0	0	0	1	0	8	586				
PSG8	440533	broad.mit.edu	37	19	43268424	43268424	+	Missense_Mutation	SNP	A	A	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:43268424A>G	ENST00000306511.4	-	2	171	c.74T>C	c.(73-75)tTa>tCa	p.L25S	PSG8_ENST00000406636.3_Intron|PSG8_ENST00000401467.2_Missense_Mutation_p.L25S|PSG8_ENST00000404209.4_Missense_Mutation_p.L25S	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	25						extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CCAGAAGTTTAAAAGTGATGC	0.478																																						ENST00000404209.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(73-75)tTa>tCa		pregnancy specific beta-1-glycoprotein 8							129.0	132.0	131.0					19																	43268424		2203	4300	6503	SO:0001583	missense	0					extracellular region		g.chr19:43268424A>G	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.74T>C	19.37:g.43268424A>G	ENSP00000305005:p.Leu25Ser					PSG8_ENST00000406636.3_Intron|PSG8_ENST00000401467.2_Missense_Mutation_p.L25S|PSG8_ENST00000306511.4_Missense_Mutation_p.L25S	p.L25S	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN			2	170	-		Prostate(69;0.00899)	25					A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.74T>C	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	a	12.52	1.963004	0.34659	.	.	ENSG00000124467	ENST00000404209;ENST00000401467;ENST00000407488;ENST00000306511	T;T;T	0.29397	1.57;2.66;1.58	1.35	1.35	0.21983	.	.	.	.	.	T	0.45094	0.1325	L	0.58583	1.82	0.20403	N	0.999903	D;B;D;B;B	0.89917	1.0;0.044;1.0;0.439;0.312	D;B;D;B;B	0.91635	0.992;0.021;0.999;0.249;0.126	T	0.15178	-1.0446	9	0.62326	D	0.03	.	4.8841	0.13694	1.0:0.0:0.0:0.0	.	25;25;25;25;25	B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;PSG8_HUMAN;.;.;.	S	25	ENSP00000385869:L25S;ENSP00000386090:L25S;ENSP00000305005:L25S	ENSP00000305005:L25S	L	-	2	0	PSG8	47960264	0.086000	0.21541	0.907000	0.35723	0.122000	0.20287	0.919000	0.28692	0.879000	0.35944	0.155000	0.16302	TTA		0.478	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			11	145	0	0	0	1	0	11	145				
BFSP2	8419	broad.mit.edu	37	3	133185774	133185774	+	Missense_Mutation	SNP	C	C	A	rs140878916		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:133185774C>A	ENST00000302334.2	+	5	1083	c.994C>A	c.(994-996)Cag>Aag	p.Q332K	BFSP2_ENST00000511434.1_3'UTR	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	332	Rod.				cell maturation (GO:0048469)|intermediate filament cytoskeleton organization (GO:0045104)|lens fiber cell development (GO:0070307)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						CCAGAGCCTCCAGGCTGAGAC	0.537																																						ENST00000302334.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						c.(994-996)Cag>Aag		beaded filament structural protein 2, phakinin							75.0	72.0	73.0					3																	133185774		2203	4300	6503	SO:0001583	missense	8419				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr3:133185774C>A	U48224	CCDS33859.1	3q22.1	2013-01-16			ENSG00000170819	ENSG00000170819		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1041	protein-coding gene	gene with protein product		603212					Standard	NM_003571		Approved	CP47, CP49, LIFL-L, phakinin	uc003epn.1	Q13515	OTTHUMG00000159719	ENST00000302334.2:c.994C>A	3.37:g.133185774C>A	ENSP00000304987:p.Gln332Lys					BFSP2_ENST00000511434.1_3'UTR	p.Q332K	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN			5	1083	+			332			Rod.		Q14D32|Q9HBW5	Missense_Mutation	SNP	ENST00000302334.2	37	c.994C>A	CCDS33859.1	.	.	.	.	.	.	.	.	.	.	C	33	5.210623	0.95069	.	.	ENSG00000170819	ENST00000302334	D	0.88431	-2.38	5.92	5.92	0.95590	Filament (1);	0.102139	0.43747	D	0.000535	D	0.93831	0.8027	L	0.60455	1.87	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.93664	0.6984	10	0.87932	D	0	-21.2198	20.3207	0.98668	0.0:1.0:0.0:0.0	.	332	Q13515	BFSP2_HUMAN	K	332	ENSP00000304987:Q332K	ENSP00000304987:Q332K	Q	+	1	0	BFSP2	134668464	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.621000	0.67743	2.813000	0.96785	0.561000	0.74099	CAG		0.537	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357031.1			6	68	1	0	2.0095e-06	1	2.12168e-06	6	68				
PTPRM	5797	broad.mit.edu	37	18	8406128	8406128	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr18:8406128G>A	ENST00000332175.8	+	31	5364	c.4327G>A	c.(4327-4329)Gag>Aag	p.E1443K	PTPRM_ENST00000444013.1_Missense_Mutation_p.E1230K|PTPRM_ENST00000400060.4_Missense_Mutation_p.E1457K|PTPRM_ENST00000400053.4_Missense_Mutation_p.E1381K|RP11-789C17.5_ENST00000579805.1_RNA|PTPRM_ENST00000580170.1_Missense_Mutation_p.E1456K|RP11-789C17.1_ENST00000578897.1_RNA	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1443	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GTTCTGCTACGAGGTGGCCCT	0.453																																						ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(4327-4329)Gag>Aag		protein tyrosine phosphatase, receptor type, M							154.0	136.0	142.0					18																	8406128		2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8406128G>A	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.4327G>A	18.37:g.8406128G>A	ENSP00000331418:p.Glu1443Lys					PTPRM_ENST00000400053.4_Missense_Mutation_p.E1381K|PTPRM_ENST00000400060.4_Missense_Mutation_p.E1457K|PTPRM_ENST00000580170.1_Missense_Mutation_p.E1456K|PTPRM_ENST00000444013.1_Missense_Mutation_p.E1230K	p.E1443K	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			31	5364	+		Colorectal(10;0.234)	1443			Tyrosine-protein phosphatase 2.		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.4327G>A	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	G	32	5.120007	0.94385	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7	6.17	6.17	0.99709	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.132156	0.51477	D	0.000081	D	0.87861	0.6284	L	0.37800	1.135	0.80722	D	1	P;D;D	0.67145	0.903;0.996;0.982	P;D;B	0.74348	0.589;0.983;0.411	D	0.84965	0.0879	10	0.34782	T	0.22	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1230;1456;1443	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	K	1443;1457;1381;1230	ENSP00000331418:E1443K;ENSP00000382933:E1457K;ENSP00000382927:E1381K;ENSP00000387608:E1230K	ENSP00000331418:E1443K	E	+	1	0	PTPRM	8396128	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.978000	0.88095	2.941000	0.99782	0.655000	0.94253	GAG		0.453	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			5	42	0	0	0	1	0	5	42				
BRWD1	54014	broad.mit.edu	37	21	40636563	40636563	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr21:40636563C>A	ENST00000333229.2	-	17	2035	c.1708G>T	c.(1708-1710)Gat>Tat	p.D570Y	BRWD1_ENST00000342449.3_Missense_Mutation_p.D570Y|BRWD1_ENST00000380800.3_Missense_Mutation_p.D570Y	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	570					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TTATTAGAATCTCTAATAAGT	0.373																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(1708-1710)Gat>Tat		bromodomain and WD repeat domain containing 1							54.0	55.0	55.0					21																	40636563		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40636563C>A	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.1708G>T	21.37:g.40636563C>A	ENSP00000330753:p.Asp570Tyr					BRWD1_ENST00000333229.2_Missense_Mutation_p.D570Y|BRWD1_ENST00000380800.3_Missense_Mutation_p.D570Y	p.D570Y	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			17	1786	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	570					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.1708G>T	CCDS13662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.1|24.1	4.497615|4.497615	0.85069|0.85069	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800|ENST00000455867	T;T;T|T	0.48522|0.39787	0.81;0.81;0.81|1.06	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.74152|0.74152	0.3679|0.3679	M|M	0.92169|0.92169	3.28|3.28	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	0.997;1.0;1.0;0.999|.	T|T	0.81189|0.81189	-0.1046|-0.1046	10|7	0.87932|0.87932	D|D	0|0	-12.4462|-12.4462	19.0855|19.0855	0.93201|0.93201	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	281;281;570;570|.	Q5R2U6;Q5R2U8;Q9NSI6-2;Q9NSI6|.	.;.;.;BRWD1_HUMAN|.	Y|I	570|281	ENSP00000330753:D570Y;ENSP00000344333:D570Y;ENSP00000370178:D570Y|ENSP00000389882:R281I	ENSP00000330753:D570Y|ENSP00000398900:R281I	D|R	-|-	1|2	0|0	BRWD1|BRWD1	39558433|39558433	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.395000|7.395000	0.79876|0.79876	2.526000|2.526000	0.85167|0.85167	0.655000|0.655000	0.94253|0.94253	GAT|AGA		0.373	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		6	22	1	0	0.00198382	1	0.0020305	6	22				
POTEH	23784	broad.mit.edu	37	22	16279214	16279214	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:16279214C>T	ENST00000343518.6	-	4	1060	c.1009G>A	c.(1009-1011)Gca>Aca	p.A337T	RNU6-816P_ENST00000390914.1_RNA|POTEH-AS1_ENST00000422014.1_RNA	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	337								p.A337S(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CTATCCAGTGCATTTAAATTT	0.313																																						ENST00000343518.6																			1	Substitution - Missense(1)	p.A337S(1)	lung(1)	NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						c.(1009-1011)Gca>Aca		POTE ankyrin domain family, member H																																				SO:0001583	missense	23784							g.chr22:16279214C>T	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.1009G>A	22.37:g.16279214C>T	ENSP00000340610:p.Ala337Thr						p.A337T	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN			4	1060	-			337					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.1009G>A	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	10.72	1.430681	0.25726	.	.	ENSG00000198062	ENST00000359587;ENST00000343518	T	0.56444	0.46	1.38	-1.16	0.09678	Ankyrin repeat-containing domain (4);	0.000000	0.35805	U	0.002961	T	0.48589	0.1508	M	0.66297	2.02	0.09310	N	1	P;P	0.45283	0.798;0.855	P;P	0.48571	0.582;0.473	T	0.44190	-0.9344	10	0.56958	D	0.05	.	1.8902	0.03246	0.3209:0.4527:0.0:0.2264	.	337;300	Q6S545;A6NKF6	POTEH_HUMAN;.	T	300;337	ENSP00000340610:A337T	ENSP00000340610:A337T	A	-	1	0	POTEH	14659214	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	0.044000	0.13992	-0.262000	0.09392	0.175000	0.17021	GCA		0.313	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		11	233	0	0	0	1	0	11	233				
EHBP1	23301	broad.mit.edu	37	2	63053311	63053311	+	Silent	SNP	C	C	A	rs529052334		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:63053311C>A	ENST00000263991.5	+	6	884	c.402C>A	c.(400-402)gtC>gtA	p.V134V	EHBP1_ENST00000354487.3_Silent_p.V134V|EHBP1_ENST00000405015.3_Silent_p.V134V|AC007098.1_ENST00000452397.1_RNA|EHBP1_ENST00000405289.1_Silent_p.V134V|EHBP1_ENST00000431489.1_Silent_p.V134V	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	134						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			AGACTGATGTCAAGTTAAAAT	0.398																																						ENST00000263991.5																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47						c.(400-402)gtC>gtA		EH domain binding protein 1							97.0	97.0	97.0					2																	63053311		2203	4300	6503	SO:0001819	synonymous_variant	23301					cytoplasm|membrane		g.chr2:63053311C>A	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.402C>A	2.37:g.63053311C>A						EHBP1_ENST00000405289.1_Silent_p.V134V|EHBP1_ENST00000354487.3_Silent_p.V134V|AC007098.1_ENST00000452397.1_RNA|EHBP1_ENST00000405015.3_Silent_p.V134V|EHBP1_ENST00000431489.1_Silent_p.V134V	p.V134V	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)		6	884	+	Lung NSC(7;0.0951)|all_lung(7;0.169)		134					O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Silent	SNP	ENST00000263991.5	37	c.402C>A	CCDS1872.1																																																																																				0.398	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252		7	41	1	0	0.00198382	1	0.0020305	7	41				
INPP5A	3632	broad.mit.edu	37	10	134563349	134563349	+	Splice_Site	SNP	G	G	A	rs142848612		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:134563349G>A	ENST00000368594.3	+	11	1180	c.903G>A	c.(901-903)gcG>gcA	p.A301A	INPP5A_ENST00000368593.3_Splice_Site_p.A301A	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	301					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|PH domain binding (GO:0042731)			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		ACGGCACCGCGGTGAGTTTGT	0.562																																					Pancreas(63;823 1267 11107 20380 51626)	ENST00000368594.3																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.e11+1		inositol polyphosphate-5-phosphatase, 40kDa		G		0,4406		0,0,2203	90.0	83.0	85.0		903	4.1	1.0	10	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice	INPP5A	NM_005539.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		301/413	134563349	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	3632				cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding	g.chr10:134563349G>A	X77567	CCDS7669.2	10q26.3	2008-08-07	2002-08-29		ENSG00000068383	ENSG00000068383	3.1.3.56		6076	protein-coding gene	gene with protein product	"""CTCL tumor antigen HD-CL-02"", ""43 kDa inositol polyphosphate 5-phophatase"", ""inositol polyphosphate 5-phophatase, 40kDa"", ""InsP3 5-phosphatase"", ""type I inositol-1,4,5-trisphosphate 5-phosphatase"""	600106	"""inositol polyphosphate-5-phosphatase, 40kD"""			8013665	Standard	NM_005539		Approved	5PTASE	uc001llp.3	Q14642	OTTHUMG00000019293	ENST00000368594.3:c.903+1G>A	10.37:g.134563349G>A						INPP5A_ENST00000368593.3_Splice_Site_p.A301_splice	p.A301_splice	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)	11	1180	+		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)	301					D3DXI3|Q14640|Q5JSF1	Splice_Site	SNP	ENST00000368594.3	37	c.903_splice	CCDS7669.2																																																																																				0.562	INPP5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051085.1	NM_005539	Silent	17	81	0	0	0	1	0	17	81				
SAMD9L	219285	broad.mit.edu	37	7	92765171	92765171	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:92765171G>A	ENST00000318238.4	-	5	1330	c.114C>T	c.(112-114)ctC>ctT	p.L38L	SAMD9L_ENST00000411955.1_Silent_p.L38L|SAMD9L_ENST00000437805.1_Silent_p.L38L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	38	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTTCTTCACTGAGCAGAATTT	0.398																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(112-114)ctC>ctT		sterile alpha motif domain containing 9-like							118.0	118.0	118.0					7																	92765171		2203	4300	6503	SO:0001819	synonymous_variant	219285							g.chr7:92765171G>A	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.114C>T	7.37:g.92765171G>A						SAMD9L_ENST00000437805.1_Silent_p.L38L|SAMD9L_ENST00000411955.1_Silent_p.L38L	p.L38L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	1330	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		38			SAM.		A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Silent	SNP	ENST00000318238.4	37	c.114C>T	CCDS34681.1																																																																																				0.398	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		4	85	0	0	0	1	0	4	85				
PLS3	5358	broad.mit.edu	37	X	114856633	114856633	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:114856633G>T	ENST00000420625.2	+	3	283	c.149G>T	c.(148-150)gGa>gTa	p.G50V	PLS3_ENST00000539310.1_Missense_Mutation_p.G5V|PLS3_ENST00000537301.1_Missense_Mutation_p.G28V|PLS3_ENST00000355899.3_Missense_Mutation_p.G50V|PLS3_ENST00000289290.3_Missense_Mutation_p.G5V	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	P13797	PLST_HUMAN	plastin 3	50					bone development (GO:0060348)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						CCATTACCAGGATATAAAGTG	0.353																																					Colon(160;1047 1864 8490 12969 29601)	ENST00000420625.2																			0				NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						c.(148-150)gGa>gTa		plastin 3							105.0	104.0	104.0					X																	114856633		2203	4300	6503	SO:0001583	missense	5358					cytoplasm	actin binding|calcium ion binding	g.chrX:114856633G>T	L05491	CCDS14568.1, CCDS65312.1	Xq23	2013-01-10	2010-02-10		ENSG00000102024	ENSG00000102024		"""EF-hand domain containing"""	9091	protein-coding gene	gene with protein product		300131	"""plastin 3 (T isoform)"""			8428952	Standard	NM_005032		Approved	T-plastin	uc004eqe.3	P13797	OTTHUMG00000022237	ENST00000420625.2:c.149G>T	X.37:g.114856633G>T	ENSP00000398945:p.Gly50Val					PLS3_ENST00000539310.1_Missense_Mutation_p.G5V|PLS3_ENST00000537301.1_Missense_Mutation_p.G28V|PLS3_ENST00000355899.3_Missense_Mutation_p.G50V|PLS3_ENST00000289290.3_Missense_Mutation_p.G5V	p.G50V	NM_001136025.3|NM_001172335.1	NP_001129497.1|NP_001165806.1	P13797	PLST_HUMAN			3	283	+			50					A8K579|B1AQ09|B4DGB4|B7Z6M1|Q86YI6	Missense_Mutation	SNP	ENST00000420625.2	37	c.149G>T	CCDS14568.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.519358	0.85495	.	.	ENSG00000102024	ENST00000355899;ENST00000537301;ENST00000289290;ENST00000420625;ENST00000539310	T;T;D;T;D	0.87729	-0.59;-0.59;-2.29;-0.59;-2.29	5.38	5.38	0.77491	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.92004	0.7467	L	0.60845	1.875	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.995	D;D;D	0.74674	0.984;0.967;0.945	D	0.92778	0.6238	10	0.72032	D	0.01	-15.3451	16.5784	0.84707	0.0:0.0:1.0:0.0	.	50;28;50	B4DPW9;B4DGB4;P13797	.;.;PLST_HUMAN	V	50;28;5;50;5	ENSP00000348163:G50V;ENSP00000445105:G28V;ENSP00000289290:G5V;ENSP00000398945:G50V;ENSP00000445339:G5V	ENSP00000289290:G5V	G	+	2	0	PLS3	114762889	1.000000	0.71417	0.992000	0.48379	0.986000	0.74619	9.869000	0.99810	2.222000	0.72286	0.544000	0.68410	GGA		0.353	PLS3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057976.2			9	76	1	0	1.12685e-05	1	1.17832e-05	9	76				
ALG1L	200810	broad.mit.edu	37	3	125647396	125647396	+	IGR	SNP	T	T	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:125647396T>C	ENST00000340333.3	-	0	805				FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like								transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						TGTTTCCCTATGAAGAGCACT	0.502																																						ENST00000485843.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr3:125647396T>C	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588		3.37:g.125647396T>C								NR_024251.1						0	541	+								D3DNA5	RNA	SNP	ENST00000340333.3	37		CCDS33840.1																																																																																				0.502	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	NM_001015050		4	119	0	0	0	1	0	4	119				
PLEKHA8	84725	broad.mit.edu	37	7	30088967	30088967	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:30088967C>T	ENST00000449726.1	+	5	916	c.566C>T	c.(565-567)tCa>tTa	p.S189L	PLEKHA8_ENST00000258679.7_Missense_Mutation_p.S189L|PLEKHA8_ENST00000396257.2_Missense_Mutation_p.S189L|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.S189L	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	189					ER to Golgi ceramide transport (GO:0035621)|lipid transport (GO:0006869)|protein transport (GO:0015031)	membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ceramide binding (GO:0097001)|glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						CCACCAGGATCACCTCAGCTG	0.458																																						ENST00000449726.1																			0				breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						c.(565-567)tCa>tTa		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8							131.0	118.0	123.0					7																	30088967		2203	4300	6503	SO:0001583	missense	84725				protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity	g.chr7:30088967C>T	BC053990	CCDS5424.1, CCDS56473.1, CCDS75574.1	7p21-p11.2	2013-01-10			ENSG00000106086	ENSG00000106086		"""Pleckstrin homology (PH) domain containing"""	30037	protein-coding gene	gene with protein product		608639				11001876	Standard	NM_001197027		Approved	FAPP2, MGC3358	uc003taq.3	Q96JA3	OTTHUMG00000097751	ENST00000449726.1:c.566C>T	7.37:g.30088967C>T	ENSP00000397947:p.Ser189Leu					PLEKHA8_ENST00000258679.7_Missense_Mutation_p.S189L|PLEKHA8_ENST00000396257.2_Missense_Mutation_p.S189L|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.S189L	p.S189L	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN			5	916	+			189					B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Missense_Mutation	SNP	ENST00000449726.1	37	c.566C>T	CCDS56473.1	.	.	.	.	.	.	.	.	.	.	C	32	5.114303	0.94339	.	.	ENSG00000106086	ENST00000258679;ENST00000449726;ENST00000396257;ENST00000396259;ENST00000440706	.	.	.	6.06	6.06	0.98353	.	0.063353	0.64402	D	0.000004	T	0.76933	0.4057	L	0.55481	1.735	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.993;0.996	D;D;D;P	0.85130	0.997;0.991;0.91;0.766	T	0.74740	-0.3563	9	0.49607	T	0.09	-18.977	19.1847	0.93639	0.0:1.0:0.0:0.0	.	189;189;189;189	Q96JA3-2;Q96JA3;Q96JA3-3;B4DH00	.;PKHA8_HUMAN;.;.	L	189;189;189;189;215	.	ENSP00000258679:S189L	S	+	2	0	PLEKHA8	30055492	1.000000	0.71417	0.472000	0.27241	0.992000	0.81027	7.717000	0.84732	2.882000	0.98803	0.655000	0.94253	TCA		0.458	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032639		8	91	0	0	0	1	0	8	91				
PKDREJ	10343	broad.mit.edu	37	22	46653081	46653081	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:46653081C>G	ENST00000253255.5	-	1	6138	c.6139G>C	c.(6139-6141)Gat>Cat	p.D2047H		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	2047					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATAATGTGATCTACCTGAGAA	0.428																																						ENST00000253255.5																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(6139-6141)Gat>Cat		polycystin (PKD) family receptor for egg jelly							80.0	84.0	83.0					22																	46653081		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46653081C>G	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.6139G>C	22.37:g.46653081C>G	ENSP00000253255:p.Asp2047His						p.D2047H	NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	6138	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	2047					B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.6139G>C	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.933189	0.52866	.	.	ENSG00000130943	ENST00000253255	T	0.70516	-0.49	5.81	5.81	0.92471	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.64402	D	0.000004	D	0.83589	0.5287	M	0.72118	2.19	0.44268	D	0.997128	D	0.89917	1.0	D	0.97110	1.0	D	0.84524	0.0629	10	0.72032	D	0.01	-28.8133	16.8074	0.85709	0.0:1.0:0.0:0.0	.	2047	Q9NTG1	PKDRE_HUMAN	H	2047	ENSP00000253255:D2047H	ENSP00000253255:D2047H	D	-	1	0	PKDREJ	45031745	0.998000	0.40836	0.709000	0.30452	0.285000	0.27093	4.931000	0.63469	2.758000	0.94735	0.508000	0.49915	GAT		0.428	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		8	64	0	0	0	1	0	8	64				
ELAVL2	1993	broad.mit.edu	37	9	23692637	23692637	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr9:23692637G>A	ENST00000397312.2	-	7	1272	c.998C>T	c.(997-999)gCg>gTg	p.A333V	ELAVL2_ENST00000380110.4_Missense_Mutation_p.A363V|ELAVL2_ENST00000380117.1_Missense_Mutation_p.A333V|ELAVL2_ENST00000544538.1_Missense_Mutation_p.A333V|ELAVL2_ENST00000223951.6_Missense_Mutation_p.A320V	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	333	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		GCTAGCTATCGCCATGGCAGC	0.453																																						ENST00000397312.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39						c.(997-999)gCg>gTg		ELAV like neuron-specific RNA binding protein 2							96.0	83.0	87.0					9																	23692637		2203	4300	6503	SO:0001583	missense	1993				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr9:23692637G>A	BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"""RNA binding motif (RRM) containing"""	3313	protein-coding gene	gene with protein product	"""Hu antigen B"""	601673	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"""			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.998C>T	9.37:g.23692637G>A	ENSP00000380479:p.Ala333Val					ELAVL2_ENST00000223951.6_Missense_Mutation_p.A320V|ELAVL2_ENST00000380110.4_Missense_Mutation_p.A363V|ELAVL2_ENST00000380117.1_Missense_Mutation_p.A333V|ELAVL2_ENST00000544538.1_Missense_Mutation_p.A333V	p.A333V	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN		GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)	7	1272	-			333			RRM 3.		D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Missense_Mutation	SNP	ENST00000397312.2	37	c.998C>T	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.643832	0.67244	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	5.94	5.94	0.96194	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.65637	0.2710	M	0.79693	2.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.982;0.986	T	0.67496	-0.5656	10	0.87932	D	0	.	20.369	0.98888	0.0:0.0:1.0:0.0	.	333;320	Q12926;Q12926-2	ELAV2_HUMAN;.	V	320;333;333;320;333;361	ENSP00000223951:A320V;ENSP00000380479:A333V;ENSP00000440998:A333V;ENSP00000369460:A333V	ENSP00000223951:A320V	A	-	2	0	ELAVL2	23682637	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.374000	0.97172	2.819000	0.97034	0.650000	0.86243	GCG		0.453	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432		19	44	0	0	0	1	0	19	44				
LHCGR	3973	broad.mit.edu	37	2	48915596	48915596	+	Missense_Mutation	SNP	A	A	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:48915596A>G	ENST00000294954.7	-	11	1361	c.1340T>C	c.(1339-1341)gTa>gCa	p.V447A	LHCGR_ENST00000405626.1_Missense_Mutation_p.V420A|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000344775.3_Missense_Mutation_p.V385A|LHCGR_ENST00000403273.1_3'UTR	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	447					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	ACTTGCGAATACAGTGAAAAA	0.488																																						ENST00000294954.7																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56						c.(1339-1341)gTa>gCa		luteinizing hormone/choriogonadotropin receptor	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)						106.0	87.0	93.0					2																	48915596		2203	4300	6503	SO:0001583	missense	3973				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	g.chr2:48915596A>G		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.1340T>C	2.37:g.48915596A>G	ENSP00000294954:p.Val447Ala					LHCGR_ENST00000344775.3_Missense_Mutation_p.V385A|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.V420A|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_Intron	p.V447A	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		11	1361	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	447					Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	ENST00000294954.7	37	c.1340T>C	CCDS1842.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.172721	0.78452	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626	D;D;D	0.90788	-2.73;-2.73;-2.73	5.91	5.91	0.95273	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.96112	0.8733	M	0.89968	3.075	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	D	0.96611	0.9452	9	.	.	.	.	15.5325	0.75974	1.0:0.0:0.0:0.0	.	447	P22888	LSHR_HUMAN	A	385;447;420	ENSP00000344301:V385A;ENSP00000294954:V447A;ENSP00000386033:V420A	.	V	-	2	0	LHCGR	48769100	1.000000	0.71417	0.982000	0.44146	0.996000	0.88848	9.335000	0.96500	2.252000	0.74401	0.533000	0.62120	GTA		0.488	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3		11	75	0	0	0	1	0	11	75				
EYA2	2139	broad.mit.edu	37	20	45718018	45718018	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:45718018G>C	ENST00000327619.5	+	8	1176	c.802G>C	c.(802-804)Gag>Cag	p.E268Q	EYA2_ENST00000317304.6_Missense_Mutation_p.E268Q|EYA2_ENST00000357410.3_Missense_Mutation_p.E268Q	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	268					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CAATGAGATTGAGGTAATCCA	0.587																																					Pancreas(120;56 1725 18501 25218 43520)	ENST00000327619.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(802-804)Gag>Cag		eyes absent homolog 2 (Drosophila)							44.0	47.0	46.0					20																	45718018		2203	4300	6503	SO:0001583	missense	2139				DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity	g.chr20:45718018G>C		CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3520	protein-coding gene	gene with protein product		601654	"""eyes absent (Drosophila) homolog 2"", ""eyes absent homolog 2 (Drosophila)"""			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.802G>C	20.37:g.45718018G>C	ENSP00000333640:p.Glu268Gln					EYA2_ENST00000357410.3_Missense_Mutation_p.E268Q|EYA2_ENST00000317304.6_Missense_Mutation_p.E268Q	p.E268Q	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN			8	1176	+		Myeloproliferative disorder(115;0.0241)	268					Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Missense_Mutation	SNP	ENST00000327619.5	37	c.802G>C	CCDS13403.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.854810	0.51376	.	.	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000484200;ENST00000317304;ENST00000458636	D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85	6.03	6.03	0.97812	EYA (1);	0.000000	0.85682	D	0.000000	D	0.93893	0.8046	M	0.86864	2.845	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.87578	0.982;0.998;0.995;0.995	D	0.93864	0.7156	10	0.87932	D	0	-4.1043	20.5568	0.99304	0.0:0.0:1.0:0.0	.	268;268;268;268	O00167-3;E7ETN2;A8KAG7;O00167	.;.;.;EYA2_HUMAN	Q	268;268;268;268;139	ENSP00000333640:E268Q;ENSP00000349986:E268Q;ENSP00000321590:E268Q;ENSP00000395427:E139Q	ENSP00000321590:E268Q	E	+	1	0	EYA2	45151425	1.000000	0.71417	0.995000	0.50966	0.771000	0.43674	9.007000	0.93597	2.861000	0.98227	0.655000	0.94253	GAG		0.587	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244		4	63	0	0	0	1	0	4	63				
EBF2	64641	broad.mit.edu	37	8	25715961	25715961	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr8:25715961G>A	ENST00000520164.1	-	14	1939	c.1402C>T	c.(1402-1404)Caa>Taa	p.Q468*	EBF2_ENST00000408929.3_Nonsense_Mutation_p.Q320*|EBF2_ENST00000535548.1_Nonsense_Mutation_p.Q199*	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	468	Pro/Ser/Thr-rich.				adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TTAGACTGTTGAGGCGTGGAG	0.502																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	ENST00000520164.1																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39						c.(1402-1404)Caa>Taa		early B-cell factor 2							163.0	167.0	166.0					8																	25715961		2057	4198	6255	SO:0001587	stop_gained	64641				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	g.chr8:25715961G>A	AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.1402C>T	8.37:g.25715961G>A	ENSP00000430241:p.Gln468*					EBF2_ENST00000408929.3_Nonsense_Mutation_p.Q320*|EBF2_ENST00000535548.1_Nonsense_Mutation_p.Q199*	p.Q468*	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)	14	1939	-		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	468			Pro/Ser/Thr-rich.		A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Nonsense_Mutation	SNP	ENST00000520164.1	37	c.1402C>T	CCDS43726.1	.	.	.	.	.	.	.	.	.	.	G	41	8.717560	0.98927	.	.	ENSG00000221818	ENST00000520164;ENST00000408929;ENST00000535548	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	18.4615	0.90739	0.0:0.0:1.0:0.0	.	.	.	.	X	468;320;199	.	ENSP00000386178:Q320X	Q	-	1	0	EBF2	25771878	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	9.869000	0.99810	2.609000	0.88269	0.655000	0.94253	CAA		0.502	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		7	69	0	0	0	1	0	7	69				
CHRND	1144	broad.mit.edu	37	2	233393337	233393337	+	Silent	SNP	C	C	T	rs200986300	byFrequency	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:233393337C>T	ENST00000258385.3	+	5	512	c.480C>T	c.(478-480)ttC>ttT	p.F160F	CHRND_ENST00000536614.1_Silent_p.F160F|CHRND_ENST00000543200.1_Silent_p.F145F|CHRND_ENST00000457943.2_Missense_Mutation_p.S70L	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	160					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)	p.F160F(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	ATTTCCCCTTCGACTGGCAGA	0.577													C|||	2	0.000399361	0.0	0.0	5008	,	,		18768	0.001		0.0	False		,,,				2504	0.001					ENST00000457943.2																			1	Substitution - coding silent(1)	p.F160F(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34						c.(208-210)tCg>tTg		cholinergic receptor, nicotinic, delta (muscle)							151.0	133.0	139.0					2																	233393337		2203	4300	6503	SO:0001819	synonymous_variant	1144				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr2:233393337C>T	X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1965	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, delta (muscle)"""	100720	"""cholinergic receptor, nicotinic, delta"""	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.480C>T	2.37:g.233393337C>T						CHRND_ENST00000258385.3_Silent_p.F160F|CHRND_ENST00000536614.1_Silent_p.F160F|CHRND_ENST00000543200.1_Silent_p.F145F	p.S70L			Q07001	ACHD_HUMAN		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	5	508	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	0					A8K661|B4DT92|Q52LH4	Missense_Mutation	SNP	ENST00000258385.3	37	c.209C>T	CCDS2494.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	5.602	0.295835	0.10622	.	.	ENSG00000135902	ENST00000457943	D	0.85088	-1.94	4.46	-0.502	0.12004	.	.	.	.	.	T	0.63768	0.2539	.	.	.	0.26732	N	0.970561	B	0.06786	0.001	B	0.04013	0.001	T	0.51663	-0.8677	8	0.02654	T	1	.	8.4683	0.32969	0.0:0.3396:0.0:0.6604	.	70	B4E3W4	.	L	70	ENSP00000391055:S70L	ENSP00000391055:S70L	S	+	2	0	CHRND	233101581	0.000000	0.05858	0.998000	0.56505	0.993000	0.82548	-1.873000	0.01637	-0.003000	0.14444	-0.224000	0.12420	TCG		0.577	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257038.2			24	115	0	0	0	1	0	24	115				
KIAA0100	9703	broad.mit.edu	37	17	26939325	26939325	+	IGR	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:26939325C>G	ENST00000528896.2	-	0	7407				RP11-192H23.6_ENST00000579019.2_RNA|RP11-192H23.4_ENST00000577790.1_Intron|SPAG5-AS1_ENST00000414744.1_RNA|SPAG5-AS1_ENST00000554154.1_RNA|SGK494_ENST00000469832.3_5'Flank|RP11-192H23.4_ENST00000534850.1_Intron|SPAG5-AS1_ENST00000424210.1_RNA|SGK494_ENST00000301037.5_Missense_Mutation_p.E203Q	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100							extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					ATGGAAGCCTCAGGAAAGCAG	0.498																																						ENST00000301037.5																			0											c.(607-609)Gag>Cag									67.0	59.0	62.0					17																	26939325		2203	4300	6503	SO:0001628	intergenic_variant	0							g.chr17:26939325C>G	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587		17.37:g.26939325C>G						SPAG5-AS1_ENST00000424210.1_RNA|RP11-192H23.4_ENST00000534850.1_Intron|RP11-192H23.4_ENST00000577790.1_Intron|SPAG5-AS1_ENST00000554154.1_RNA	p.E203Q	NM_001174103.1	NP_001167574.1					6	606	-								A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.607G>C	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622493	0.87460	.	.	ENSG00000167524	ENST00000301037	T	0.10860	2.83	5.83	5.83	0.93111	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.197823	0.42294	D	0.000724	T	0.33440	0.0863	M	0.63208	1.945	0.58432	D	0.999999	D	0.76494	0.999	D	0.83275	0.996	T	0.00523	-1.1690	10	0.62326	D	0.03	-12.912	19.1034	0.93283	0.0:1.0:0.0:0.0	.	203	Q96LW2	SG494_HUMAN	Q	203	ENSP00000301037:E203Q	ENSP00000301037:E203Q	E	-	1	0	AC005726.6	23963452	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.065000	0.64344	2.750000	0.94351	0.655000	0.94253	GAG		0.498	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		7	62	0	0	0	1	0	7	62				
FANCM	57697	broad.mit.edu	37	14	45642401	45642401	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:45642401G>A	ENST00000267430.5	+	13	2389	c.2304G>A	c.(2302-2304)atG>atA	p.M768I	FANCM_ENST00000542564.2_Missense_Mutation_p.M742I	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	768					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TAGAGGGAATGAGACACGAAG	0.373								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(2302-2304)atG>atA	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							169.0	158.0	162.0					14																	45642401		2203	4300	6503	SO:0001583	missense	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45642401G>A	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.2304G>A	14.37:g.45642401G>A	ENSP00000267430:p.Met768Ile					FANCM_ENST00000542564.2_Missense_Mutation_p.M742I	p.M768I	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			13	2389	+			768					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.2304G>A	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.355046	0.41700	.	.	ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250	T;T;T	0.23348	2.63;2.61;1.91	5.79	3.58	0.41010	.	0.124507	0.64402	N	0.000001	T	0.21103	0.0508	L	0.45581	1.43	0.37624	D	0.921411	B;B	0.30889	0.299;0.299	B;B	0.22152	0.038;0.035	T	0.14309	-1.0477	10	0.42905	T	0.14	.	12.0925	0.53736	0.0763:0.1251:0.7986:0.0	.	742;768	B2RTQ9;Q8IYD8	.;FANCM_HUMAN	I	768;742;284	ENSP00000267430:M768I;ENSP00000442493:M742I;ENSP00000452033:M284I	ENSP00000267430:M768I	M	+	3	0	FANCM	44712151	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.679000	0.61649	1.398000	0.46701	0.561000	0.74099	ATG		0.373	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		6	47	0	0	0	1	0	6	47				
ZNF513	130557	broad.mit.edu	37	2	27600930	27600930	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:27600930G>C	ENST00000323703.6	-	4	1306	c.1108C>G	c.(1108-1110)Cac>Gac	p.H370D	ZNF513_ENST00000491924.1_Intron|ZNF513_ENST00000407879.1_Missense_Mutation_p.H308D	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	370					regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGGGATAGTGAGTGGCAAAG	0.632																																						ENST00000323703.6																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17						c.(1108-1110)Cac>Gac		zinc finger protein 513							94.0	111.0	105.0					2																	27600930		2203	4300	6503	SO:0001583	missense	130557				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr2:27600930G>C	AL833946	CCDS1751.1, CCDS56114.1	2p23.3	2014-01-28			ENSG00000163795	ENSG00000163795		"""Zinc fingers, C2H2-type"""	26498	protein-coding gene	gene with protein product		613598				12477932	Standard	NM_001201459		Approved	FLJ32203, RP58	uc002rkk.3	Q8N8E2	OTTHUMG00000097783	ENST00000323703.6:c.1108C>G	2.37:g.27600930G>C	ENSP00000318373:p.His370Asp					ZNF513_ENST00000491924.1_Intron|ZNF513_ENST00000407879.1_Missense_Mutation_p.H308D	p.H370D	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN			4	1306	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		370					A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	Missense_Mutation	SNP	ENST00000323703.6	37	c.1108C>G	CCDS1751.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.976461	0.53720	.	.	ENSG00000163795	ENST00000323703;ENST00000407879	T;T	0.06933	3.24;3.24	5.29	5.29	0.74685	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000044	T	0.20210	0.0486	L	0.34521	1.04	0.49299	D	0.999774	D	0.71674	0.998	D	0.76071	0.987	T	0.00415	-1.1753	10	0.46703	T	0.11	-10.8865	17.6615	0.88193	0.0:0.0:1.0:0.0	.	370	Q8N8E2	ZN513_HUMAN	D	370;308	ENSP00000318373:H370D;ENSP00000384874:H308D	ENSP00000318373:H370D	H	-	1	0	ZNF513	27454434	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.560000	0.82277	2.752000	0.94435	0.655000	0.94253	CAC		0.632	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215026.2	NM_144631		18	150	0	0	0	1	0	18	150				
IFI16	3428	broad.mit.edu	37	1	158984677	158984677	+	Silent	SNP	C	C	T	rs144369567	byFrequency	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:158984677C>T	ENST00000295809.7	+	2	462	c.207C>T	c.(205-207)ttC>ttT	p.F69F	IFI16_ENST00000448393.2_Silent_p.F69F|IFI16_ENST00000368132.3_Silent_p.F69F|IFI16_ENST00000430894.2_Silent_p.F73F|IFI16_ENST00000340979.6_Silent_p.F69F|IFI16_ENST00000368131.4_Silent_p.F69F|IFI16_ENST00000359709.3_Silent_p.F69F			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	69	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.|Lys-rich.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TAAAAATTTTCGAAGATATAC	0.388													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17800	0.0		0.0	False		,,,				2504	0.0					ENST00000295809.7																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(205-207)ttC>ttT		interferon, gamma-inducible protein 16		C	,	7,4399		0,7,2196	70.0	75.0	73.0		207,207	-1.3	0.0	1	dbSNP_134	73	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	IFI16	NM_001206567.1,NM_005531.2	,	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	,	69/730,69/730	158984677	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	3428				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	g.chr1:158984677C>T	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.207C>T	1.37:g.158984677C>T						IFI16_ENST00000359709.3_Silent_p.F69F|IFI16_ENST00000368131.4_Silent_p.F69F|IFI16_ENST00000368132.3_Silent_p.F69F|IFI16_ENST00000430894.2_Silent_p.F73F|IFI16_ENST00000340979.6_Silent_p.F69F|IFI16_ENST00000448393.2_Silent_p.F69F	p.F69F			Q16666	IF16_HUMAN			2	462	+	all_hematologic(112;0.0429)		69			DAPIN.|Lys-rich.		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Silent	SNP	ENST00000295809.7	37	c.207C>T																																																																																					0.388	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		7	93	0	0	0	1	0	7	93				
HSP90AB2P	391634	broad.mit.edu	37	4	13339176	13339176	+	RNA	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:13339176C>T	ENST00000602906.1	+	0	862							Q58FF8	H90B2_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene						protein folding (GO:0006457)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			kidney(3)|lung(1)	4						CTATGTCCATCGTGTGTTCAT	0.433																																						ENST00000602906.1																			0				kidney(3)|lung(1)	4																																														0							g.chr4:13339176C>T	AY956763		4p15.33	2012-04-18	2011-04-15		ENSG00000205940	ENSG00000205940			32537	pseudogene	pseudogene			"""heat shock protein 90kDa alpha (cytosolic), class B member 2 (pseudogene)"""			16269234	Standard	NG_032979		Approved	HSP90BB		Q58FF8			4.37:g.13339176C>T														0	862	+									RNA	SNP	ENST00000602906.1	37																																																																																						0.433	HSP90AB2P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000359156.2			4	36	0	0	0	1	0	4	36				
CDC42EP2	10435	broad.mit.edu	37	11	65088726	65088726	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:65088726C>T	ENST00000544348.1	+	2	963	c.357C>T	c.(355-357)ctC>ctT	p.L119L	CDC42EP2_ENST00000533419.1_Silent_p.L119L|CDC42EP2_ENST00000279249.2_Silent_p.L119L			O14613	BORG1_HUMAN	CDC42 effector protein (Rho GTPase binding) 2	119					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|Rho GTPase activator activity (GO:0005100)			lung(1)	1						CCCAGGCTCTCACCCTGCCCA	0.692																																						ENST00000544348.1																			0				lung(1)	1						c.(355-357)ctC>ctT		CDC42 effector protein (Rho GTPase binding) 2							66.0	66.0	66.0					11																	65088726		2201	4297	6498	SO:0001819	synonymous_variant	10435				actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity	g.chr11:65088726C>T	AF098290	CCDS8099.1	11q13	2008-07-18				ENSG00000149798			16263	protein-coding gene	gene with protein product	"""CRIB-containing BOGR1 protein"""	606132				10490598, 11035016	Standard	NM_006779		Approved	CEP2, BORG1	uc001odl.3	O14613		ENST00000544348.1:c.357C>T	11.37:g.65088726C>T						CDC42EP2_ENST00000279249.2_Silent_p.L119L|CDC42EP2_ENST00000533419.1_Silent_p.L119L	p.L119L			O14613	BORG1_HUMAN			2	963	+			119					B2RD85|Q9UNS0	Silent	SNP	ENST00000544348.1	37	c.357C>T	CCDS8099.1																																																																																				0.692	CDC42EP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387258.1	NM_006779		13	77	0	0	0	1	0	13	77				
FAM186B	84070	broad.mit.edu	37	12	49994908	49994908	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:49994908C>T	ENST00000257894.2	-	4	676	c.515G>A	c.(514-516)cGc>cAc	p.R172H	FAM186B_ENST00000551047.1_Missense_Mutation_p.R172H|FAM186B_ENST00000544141.1_Missense_Mutation_p.R82H|PRPF40B_ENST00000508736.1_3'UTR	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	172						protein complex (GO:0043234)				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCAGAAGGTGCGTTTGGACAC	0.527																																						ENST00000544141.1																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(244-246)cGc>cAc		family with sequence similarity 186, member B							72.0	55.0	61.0					12																	49994908		2203	4300	6503	SO:0001583	missense	84070					protein complex		g.chr12:49994908C>T	AL136748	CCDS8788.1	12q13.12	2008-09-17	2008-09-17	2008-09-17	ENSG00000135436	ENSG00000135436			25296	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 25"""	C12orf25		11230166	Standard	NM_032130		Approved	DKFZP434J0113	uc001ruo.3	Q8IYM0	OTTHUMG00000167427	ENST00000257894.2:c.515G>A	12.37:g.49994908C>T	ENSP00000257894:p.Arg172His					FAM186B_ENST00000551047.1_Missense_Mutation_p.R172H|FAM186B_ENST00000257894.2_Missense_Mutation_p.R172H|PRPF40B_ENST00000508736.1_3'UTR	p.R82H			Q8IYM0	F186B_HUMAN			4	844	-			172					B4DZ15|Q8TCP7|Q9H0L3	Missense_Mutation	SNP	ENST00000257894.2	37	c.245G>A	CCDS8788.1	.	.	.	.	.	.	.	.	.	.	C	9.272	1.045825	0.19748	.	.	ENSG00000135436	ENST00000544141;ENST00000551047;ENST00000257894	T;T;T	0.44083	2.78;0.93;2.98	5.11	-5.52	0.02560	.	2.363610	0.01699	N	0.027115	T	0.16128	0.0388	N	0.02011	-0.69	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.06405	0.0;0.002	T	0.18366	-1.0339	9	.	.	.	1.2313	8.1565	0.31171	0.1396:0.5772:0.0:0.2832	.	82;172	B4DZ15;Q8IYM0	.;F186B_HUMAN	H	82;172;172	ENSP00000438569:R82H;ENSP00000448656:R172H;ENSP00000257894:R172H	.	R	-	2	0	FAM186B	48281175	0.000000	0.05858	0.002000	0.10522	0.026000	0.11368	-0.842000	0.04354	-0.851000	0.04147	-0.907000	0.02831	CGC		0.527	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394583.2	NM_032130		4	70	0	0	0	1	0	4	70				
ZMAT3	64393	broad.mit.edu	37	3	178785380	178785380	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:178785380G>A	ENST00000311417.2	-	2	902	c.161C>T	c.(160-162)tCg>tTg	p.S54L	ZMAT3_ENST00000432729.1_Missense_Mutation_p.S54L	NM_022470.3	NP_071915.1			zinc finger, matrin-type 3											breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			CCCTCCCTTCGATAACTCTTC	0.552																																						ENST00000311417.2																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14						c.(160-162)tCg>tTg		zinc finger, matrin-type 3							123.0	117.0	119.0					3																	178785380		2203	4300	6503	SO:0001583	missense	64393				apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding	g.chr3:178785380G>A	AK122768	CCDS3224.1, CCDS46962.1	3q26.32	2012-10-05	2010-09-15		ENSG00000172667	ENSG00000172667		"""Zinc fingers, matrin-type"""	29983	protein-coding gene	gene with protein product		606452				9400996, 11689294	Standard	NM_022470		Approved	WIG1, MGC10613, FLJ12296, WIG-1, PAG608	uc003fjg.3	Q9HA38	OTTHUMG00000157290	ENST00000311417.2:c.161C>T	3.37:g.178785380G>A	ENSP00000311221:p.Ser54Leu					ZMAT3_ENST00000432729.1_Missense_Mutation_p.S54L	p.S54L	NM_022470.3	NP_071915.1	Q9HA38	ZMAT3_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)		2	902	-	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		54						Missense_Mutation	SNP	ENST00000311417.2	37	c.161C>T	CCDS3224.1	.	.	.	.	.	.	.	.	.	.	G	8.342	0.828990	0.16749	.	.	ENSG00000172667	ENST00000311417;ENST00000432729;ENST00000414084	T;T;T	0.44083	0.97;0.98;0.93	5.86	5.86	0.93980	.	0.742820	0.13869	N	0.357126	T	0.31827	0.0809	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.11792	-1.0573	10	0.23302	T	0.38	-41.0729	20.1931	0.98233	0.0:0.0:1.0:0.0	.	54;54	Q9HA38-2;Q9HA38	.;ZMAT3_HUMAN	L	54	ENSP00000311221:S54L;ENSP00000396506:S54L;ENSP00000398920:S54L	ENSP00000311221:S54L	S	-	2	0	ZMAT3	180268074	0.877000	0.30153	0.735000	0.30896	0.025000	0.11179	5.064000	0.64338	2.771000	0.95319	0.563000	0.77884	TCG		0.552	ZMAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348336.2	NM_152240		15	76	0	0	0	1	0	15	76				
PRRT1	80863	broad.mit.edu	37	6	32117019	32117019	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:32117019C>T	ENST00000211413.5	-	4	1025	c.901G>A	c.(901-903)Gag>Aag	p.E301K	PRRT1_ENST00000375150.2_Missense_Mutation_p.E220K|PRRT1_ENST00000375152.2_Missense_Mutation_p.E220K|PRRT1_ENST00000467780.1_5'UTR	NM_030651.3	NP_085154.3	Q99946	PRRT1_HUMAN	proline-rich transmembrane protein 1	301					response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						CAGTAGTTCTCGTGGTGCTGC	0.627																																						ENST00000211413.5																			0				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						c.(901-903)Gag>Aag		proline-rich transmembrane protein 1							36.0	44.0	41.0					6																	32117019		1508	2707	4215	SO:0001583	missense	80863				response to biotic stimulus	integral to membrane		g.chr6:32117019C>T	AK054885	CCDS4739.1	6p21.32	2011-10-10	2005-07-24	2005-07-24		ENSG00000204314		"""Proline-rich transmembrane proteins"""	13943	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 7"""		"""chromosome 6 open reading frame 31"""	C6orf31			Standard	XM_006715221		Approved	NG5, IFITMD7	uc003nzt.3	Q99946		ENST00000211413.5:c.901G>A	6.37:g.32117019C>T	ENSP00000211413:p.Glu301Lys					PRRT1_ENST00000467780.1_5'UTR|PRRT1_ENST00000375152.2_Missense_Mutation_p.E220K|PRRT1_ENST00000375150.2_Missense_Mutation_p.E220K	p.E301K	NM_030651.3	NP_085154.3	Q99946	PRRT1_HUMAN			4	1025	-			301					A6ND08|A6ND40|B0S869|Q5SSW4|Q5SSX7|Q5STI1|Q96DW3|Q96NQ8	Missense_Mutation	SNP	ENST00000211413.5	37	c.901G>A	CCDS4739.1	.	.	.	.	.	.	.	.	.	.	c	23.3	4.397453	0.83120	.	.	ENSG00000204314	ENST00000211413;ENST00000375150;ENST00000375152	D;D;D	0.91180	-2.79;-2.8;-2.8	4.46	4.46	0.54185	.	.	.	.	.	T	0.71307	0.3324	N	0.08118	0	0.43467	D	0.995673	B;P	0.34546	0.167;0.456	B;B	0.25140	0.012;0.058	T	0.78417	-0.2212	9	0.59425	D	0.04	-1.407	14.6746	0.68969	0.0:1.0:0.0:0.0	.	301;220	Q99946;Q99946-2	PRRT1_HUMAN;.	K	301;220;220	ENSP00000211413:E301K;ENSP00000364292:E220K;ENSP00000364294:E220K	ENSP00000211413:E301K	E	-	1	0	PRRT1	32224997	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.537000	0.73847	2.332000	0.79248	0.645000	0.84053	GAG		0.627	PRRT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076255.2	NM_030651		11	30	0	0	0	1	0	11	30				
CACNA1H	8912	broad.mit.edu	37	16	1261782	1261782	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr16:1261782G>C	ENST00000348261.5	+	24	4791	c.4543G>C	c.(4543-4545)Gat>Cat	p.D1515H	CACNA1H_ENST00000358590.4_Missense_Mutation_p.D1515H|CACNA1H_ENST00000565831.1_Missense_Mutation_p.D1515H	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1515					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CGACGGGCTGGATGCCGTGGG	0.662																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(4543-4545)Gat>Cat		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						66.0	72.0	70.0					16																	1261782		2118	4231	6349	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1261782G>C	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.4543G>C	16.37:g.1261782G>C	ENSP00000334198:p.Asp1515His					CACNA1H_ENST00000358590.4_Missense_Mutation_p.D1515H|CACNA1H_ENST00000565831.1_Missense_Mutation_p.D1515H	p.D1515H	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			24	4791	+		Hepatocellular(780;0.00369)	1515					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.4543G>C	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616275	0.66672	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.97455	-4.39;-4.39	4.49	4.49	0.54785	Ion transport (1);	0.105831	0.64402	D	0.000007	D	0.99233	0.9733	H	0.99368	4.535	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.999;0.992;0.999	D	0.98378	1.0557	10	0.87932	D	0	.	16.6839	0.85300	0.0:0.0:1.0:0.0	.	256;256;256;1515;1515	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	H	1515	ENSP00000334198:D1515H;ENSP00000351401:D1515H	ENSP00000334198:D1515H	D	+	1	0	CACNA1H	1201783	1.000000	0.71417	1.000000	0.80357	0.037000	0.13140	9.341000	0.97041	2.486000	0.83907	0.491000	0.48974	GAT		0.662	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		8	73	0	0	0	1	0	8	73				
SYNDIG1	79953	broad.mit.edu	37	20	24523840	24523840	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:24523840G>C	ENST00000376862.3	+	2	740	c.107G>C	c.(106-108)aGa>aCa	p.R36T		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	36					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)	p.R36T(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						GCCGAGAGCAGAGATGGTCTG	0.562																																						ENST00000376862.3																			1	Substitution - Missense(1)	p.R36T(1)	lung(1)	breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						c.(106-108)aGa>aCa		synapse differentiation inducing 1							77.0	79.0	78.0					20																	24523840		2203	4300	6503	SO:0001583	missense	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24523840G>C	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 5"", ""synapse differentiation induced gene 1"""	614311	"""chromosome 20 open reading frame 39"", ""transmembrane protein 90B"""	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.107G>C	20.37:g.24523840G>C	ENSP00000366058:p.Arg36Thr						p.R36T	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN			2	740	+			36					Q6IA30|Q9H514	Missense_Mutation	SNP	ENST00000376862.3	37	c.107G>C	CCDS13164.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049977	0.36181	.	.	ENSG00000101463	ENST00000376862	D	0.90563	-2.69	5.95	5.95	0.96441	.	0.162448	0.51477	D	0.000097	D	0.88709	0.6510	L	0.57536	1.79	0.40553	D	0.981135	B	0.27229	0.172	B	0.21917	0.037	D	0.85919	0.1445	10	0.46703	T	0.11	-28.1544	15.8713	0.79122	0.0:0.0:1.0:0.0	.	36	Q9H7V2	SYNG1_HUMAN	T	36	ENSP00000366058:R36T	ENSP00000366058:R36T	R	+	2	0	SYNDIG1	24471840	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	4.115000	0.57865	2.822000	0.97130	0.655000	0.94253	AGA		0.562	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		7	76	0	0	0	1	0	7	76				
KIAA0753	9851	broad.mit.edu	37	17	6499537	6499537	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:6499537C>A	ENST00000361413.3	-	15	2657	c.2299G>T	c.(2299-2301)Gag>Tag	p.E767*	KIAA0753_ENST00000575027.1_5'UTR|KIAA0753_ENST00000542606.1_Nonsense_Mutation_p.E468*|KIAA0753_ENST00000589033.1_Nonsense_Mutation_p.E223*|KIAA0753_ENST00000572370.1_Nonsense_Mutation_p.E468*	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	767						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TTGCTGTCCTCAACGGTGGCT	0.522																																						ENST00000361413.3																			0				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24						c.(2299-2301)Gag>Tag		KIAA0753							135.0	134.0	134.0					17																	6499537		1973	4178	6151	SO:0001587	stop_gained	9851					centrosome		g.chr17:6499537C>A		CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.2299G>T	17.37:g.6499537C>A	ENSP00000355250:p.Glu767*					KIAA0753_ENST00000575027.1_5'UTR|KIAA0753_ENST00000542606.1_Nonsense_Mutation_p.E468*|KIAA0753_ENST00000589033.1_Nonsense_Mutation_p.E223*|KIAA0753_ENST00000572370.1_Nonsense_Mutation_p.E468*	p.E767*	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN		COAD - Colon adenocarcinoma(228;0.157)	15	2657	-			767					A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Nonsense_Mutation	SNP	ENST00000361413.3	37	c.2299G>T	CCDS42247.1	.	.	.	.	.	.	.	.	.	.	C	41	8.573315	0.98868	.	.	ENSG00000198920	ENST00000361413;ENST00000542606;ENST00000542826	.	.	.	4.59	1.11	0.20524	.	0.861379	0.10588	N	0.657084	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-2.1039	3.6281	0.08121	0.1676:0.5692:0.1637:0.0995	.	.	.	.	X	767;468;223	.	ENSP00000355250:E767X	E	-	1	0	KIAA0753	6440261	0.001000	0.12720	0.024000	0.17045	0.033000	0.12548	0.844000	0.27654	0.471000	0.27319	0.655000	0.94253	GAG		0.522	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804		18	135	1	0	2.35188e-11	1	2.56408e-11	18	135				
TEX2	55852	broad.mit.edu	37	17	62291464	62291464	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:62291464G>A	ENST00000583097.1	-	2	286	c.114C>T	c.(112-114)ttC>ttT	p.F38F	TEX2_ENST00000584379.1_Silent_p.F38F|TEX2_ENST00000258991.3_Silent_p.F38F			Q8IWB9	TEX2_HUMAN	testis expressed 2	38					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CGGATGCCGAGAAGTGAATGG	0.562																																						ENST00000258991.3																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(112-114)ttC>ttT		testis expressed 2							109.0	99.0	103.0					17																	62291464		2203	4300	6503	SO:0001819	synonymous_variant	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62291464G>A	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.114C>T	17.37:g.62291464G>A						TEX2_ENST00000583097.1_Silent_p.F38F|TEX2_ENST00000584379.1_Silent_p.F38F	p.F38F			Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	2	198	-			38					Q6AHZ5|Q8N3L0|Q9C0C5	Silent	SNP	ENST00000583097.1	37	c.114C>T																																																																																					0.562	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		10	84	0	0	0	1	0	10	84				
SORL1	6653	broad.mit.edu	37	11	121393333	121393333	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:121393333C>T	ENST00000260197.7	+	10	1572	c.1443C>T	c.(1441-1443)ctC>ctT	p.L481L	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	481					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CTCAGCGCCTCAGTCAGCTCC	0.547																																						ENST00000260197.7																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91						c.(1441-1443)ctC>ctT		sortilin-related receptor, L(DLR class) A repeats containing							179.0	159.0	166.0					11																	121393333		2203	4299	6502	SO:0001819	synonymous_variant	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121393333C>T	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.1443C>T	11.37:g.121393333C>T						SORL1_ENST00000532451.1_3'UTR	p.L481L	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	10	1572	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	481					B2RNX7|Q92856	Silent	SNP	ENST00000260197.7	37	c.1443C>T	CCDS8436.1																																																																																				0.547	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		15	195	0	0	0	1	0	15	195				
PRDM15	63977	broad.mit.edu	37	21	43298817	43298817	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr21:43298817C>G	ENST00000269844.3	-	3	510	c.400G>C	c.(400-402)Gaa>Caa	p.E134Q	PRDM15_ENST00000398548.1_Intron|PRDM15_ENST00000538201.1_Intron|PRDM15_ENST00000422911.1_Intron|AP001619.2_ENST00000432411.1_RNA	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	134					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GACTCAGCTTCTCTAAACGCG	0.642																																						ENST00000269844.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						c.(400-402)Gaa>Caa		PR domain containing 15							7.0	10.0	9.0					21																	43298817		2064	4149	6213	SO:0001583	missense	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43298817C>G	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.400G>C	21.37:g.43298817C>G	ENSP00000269844:p.Glu134Gln					PRDM15_ENST00000422911.1_Intron|PRDM15_ENST00000538201.1_Intron|PRDM15_ENST00000398548.1_Intron	p.E134Q	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN			3	510	-			134					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.400G>C	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.000479	0.35320	.	.	ENSG00000141956	ENST00000269844	T	0.10477	2.87	1.67	-2.42	0.06542	.	.	.	.	.	T	0.04815	0.0130	N	0.08118	0	0.09310	N	0.999996	B	0.20261	0.043	B	0.08055	0.003	T	0.36720	-0.9736	9	0.87932	D	0	.	5.8091	0.18456	0.0:0.3356:0.0:0.6644	.	134	P57071	PRD15_HUMAN	Q	134	ENSP00000269844:E134Q	ENSP00000269844:E134Q	E	-	1	0	PRDM15	42171886	0.000000	0.05858	0.000000	0.03702	0.622000	0.37654	0.258000	0.18387	-0.770000	0.04614	0.289000	0.19496	GAA		0.642	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		3	13	0	0	0	1	0	3	13				
MUC17	140453	broad.mit.edu	37	7	100683261	100683261	+	Missense_Mutation	SNP	A	A	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:100683261A>T	ENST00000306151.4	+	3	8628	c.8564A>T	c.(8563-8565)gAa>gTa	p.E2855V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2855	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACAACTGCTGAAGGTATCGTC	0.512																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(8563-8565)gAa>gTa		mucin 17, cell surface associated							256.0	262.0	260.0					7																	100683261		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683261A>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8564A>T	7.37:g.100683261A>T	ENSP00000302716:p.Glu2855Val						p.E2855V	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	8628	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2855			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8564A>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	5.908	0.351612	0.11182	.	.	ENSG00000169876	ENST00000306151	T	0.02763	4.17	1.06	-2.12	0.07165	.	.	.	.	.	T	0.03390	0.0098	N	0.24115	0.695	0.09310	N	1	P	0.51653	0.947	P	0.55965	0.788	T	0.29579	-1.0007	9	0.30078	T	0.28	.	2.3193	0.04207	0.3168:0.0:0.2799:0.4033	.	2855	Q685J3	MUC17_HUMAN	V	2855	ENSP00000302716:E2855V	ENSP00000302716:E2855V	E	+	2	0	MUC17	100469981	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-2.419000	0.01033	-1.193000	0.02688	0.113000	0.15668	GAA		0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		6	595	0	0	0	1	0	6	595				
PLCB3	5331	broad.mit.edu	37	11	64033632	64033632	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:64033632C>G	ENST00000540288.1	+	27	3327	c.3224C>G	c.(3223-3225)gCa>gGa	p.A1075G	PLCB3_ENST00000325234.5_Missense_Mutation_p.A1008G|PLCB3_ENST00000279230.6_Missense_Mutation_p.A1075G	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	1075					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GTCCTTGATGCAAACACAACT	0.567																																						ENST00000540288.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						c.(3223-3225)gCa>gGa		phospholipase C, beta 3 (phosphatidylinositol-specific)							106.0	110.0	109.0					11																	64033632		2201	4297	6498	SO:0001583	missense	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64033632C>G	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.3224C>G	11.37:g.64033632C>G	ENSP00000443631:p.Ala1075Gly					PLCB3_ENST00000325234.5_Missense_Mutation_p.A1008G|PLCB3_ENST00000279230.6_Missense_Mutation_p.A1075G	p.A1075G	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN			27	3327	+			1075					A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	ENST00000540288.1	37	c.3224C>G	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	C	7.337	0.620032	0.14193	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.43688	0.94;0.94;0.94	5.05	4.14	0.48551	PLC-beta, C-terminal (1);	0.287659	0.37577	N	0.002024	T	0.28366	0.0701	L	0.29908	0.895	0.09310	N	1	B;B	0.23249	0.082;0.076	B;B	0.25759	0.03;0.063	T	0.15235	-1.0444	10	0.30078	T	0.28	.	7.2222	0.25994	0.0:0.7357:0.1713:0.0929	.	1008;1075	G5E960;Q01970	.;PLCB3_HUMAN	G	1075;1075;1008	ENSP00000279230:A1075G;ENSP00000443631:A1075G;ENSP00000324660:A1008G	ENSP00000279230:A1075G	A	+	2	0	PLCB3	63790208	0.034000	0.19679	0.020000	0.16555	0.261000	0.26267	1.409000	0.34680	1.138000	0.42230	0.462000	0.41574	GCA		0.567	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			10	164	0	0	0	1	0	10	164				
LECT1	11061	broad.mit.edu	37	13	53282685	53282685	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr13:53282685C>T	ENST00000377962.3	-	6	853	c.775G>A	c.(775-777)Gat>Aat	p.D259N	LECT1_ENST00000448904.2_Missense_Mutation_p.D259N			O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	259					cartilage development (GO:0051216)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|proteoglycan metabolic process (GO:0006029)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		TAAGGATTATCAGGATTGAAG	0.483																																						ENST00000448904.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15						c.(775-777)Gat>Aat		leukocyte cell derived chemotaxin 1							188.0	159.0	169.0					13																	53282685		2203	4300	6503	SO:0001583	missense	11061				cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane		g.chr13:53282685C>T	AB006000	CCDS9437.1, CCDS45051.1	13q14.3	2012-10-10			ENSG00000136110	ENSG00000136110		"""BRICHOS domain containing"""	17005	protein-coding gene	gene with protein product	"""BRICHOS domain containing 3"""	605147	"""multiple myeloma tumor suppressor 1"""	MYETS1		9731231, 10103018	Standard	XM_006719760		Approved	CHM-I, CHM1, chondromodulin, BRICD3	uc001vhf.2	O75829	OTTHUMG00000016980	ENST00000377962.3:c.775G>A	13.37:g.53282685C>T	ENSP00000367198:p.Asp259Asn					LECT1_ENST00000377962.3_Missense_Mutation_p.D259N	p.D259N	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	O75829	LECT1_HUMAN		GBM - Glioblastoma multiforme(99;3.38e-08)	6	885	-		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	259					Q5TAM4|Q8TAY6|Q9UM18	Missense_Mutation	SNP	ENST00000377962.3	37	c.775G>A	CCDS9437.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.112039	0.56398	.	.	ENSG00000136110	ENST00000448904;ENST00000377962	T;T	0.32753	1.47;1.44	5.06	5.06	0.68205	.	0.094750	0.64402	D	0.000001	T	0.48150	0.1484	L	0.57536	1.79	0.49582	D	0.9998	D;D	0.56746	0.977;0.961	P;P	0.55923	0.787;0.617	T	0.49184	-0.8966	10	0.66056	D	0.02	.	18.7938	0.91985	0.0:1.0:0.0:0.0	.	259;259	O75829-2;O75829	.;LECT1_HUMAN	N	259	ENSP00000388576:D259N;ENSP00000367198:D259N	ENSP00000367198:D259N	D	-	1	0	LECT1	52180686	0.998000	0.40836	0.942000	0.38095	0.016000	0.09150	3.696000	0.54757	2.526000	0.85167	0.555000	0.69702	GAT		0.483	LECT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045110.3			4	25	0	0	0	1	0	4	25				
JTB	10899	broad.mit.edu	37	1	153948312	153948312	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:153948312C>T	ENST00000271843.4	-	4	709	c.274G>A	c.(274-276)Gag>Aag	p.E92K	RP11-422P24.11_ENST00000608236.1_lincRNA|JTB_ENST00000356648.1_Missense_Mutation_p.E63K|JTB_ENST00000368589.1_Missense_Mutation_p.E63K|JTB_ENST00000471173.1_5'Flank	NM_006694.3	NP_006685.1	O76095	JTB_HUMAN	jumping translocation breakpoint	92					apoptotic mitochondrial changes (GO:0008637)|cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|positive regulation of protein kinase activity (GO:0045860)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)	protein kinase binding (GO:0019901)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTTTTGAACTCATTTCTCTTA	0.463																																						ENST00000271843.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						c.(274-276)Gag>Aag		jumping translocation breakpoint							218.0	194.0	202.0					1																	153948312		2203	4300	6503	SO:0001583	missense	10899				apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity	integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle	protein kinase binding	g.chr1:153948312C>T	AB016488	CCDS1057.1	1q21	2010-11-16			ENSG00000143543	ENSG00000143543			6201	protein-coding gene	gene with protein product	"""prostate androgen-regulated gene"""	604671				10321732	Standard	NM_006694		Approved	hJT	uc001fds.3	O76095	OTTHUMG00000036590	ENST00000271843.4:c.274G>A	1.37:g.153948312C>T	ENSP00000271843:p.Glu92Lys					JTB_ENST00000356648.1_Missense_Mutation_p.E63K|JTB_ENST00000368589.1_Missense_Mutation_p.E63K	p.E92K	NM_006694.3	NP_006685.1	O76095	JTB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		4	709	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		92					O95442|Q6IB19|Q9P0Q4	Missense_Mutation	SNP	ENST00000271843.4	37	c.274G>A	CCDS1057.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852272	0.71719	.	.	ENSG00000143543	ENST00000271843;ENST00000356648;ENST00000368589;ENST00000428469	T	0.45668	0.89	5.3	5.3	0.74995	.	0.117157	0.56097	D	0.000032	T	0.46795	0.1411	L	0.56769	1.78	0.45502	D	0.99846	P	0.51147	0.942	P	0.57057	0.812	T	0.41698	-0.9494	10	0.56958	D	0.05	-13.9831	14.336	0.66589	0.0:1.0:0.0:0.0	.	92	O76095	JTB_HUMAN	K	92;63;63;63	ENSP00000271843:E92K	ENSP00000271843:E92K	E	-	1	0	JTB	152214936	1.000000	0.71417	0.990000	0.47175	0.965000	0.64279	5.142000	0.64820	2.749000	0.94314	0.650000	0.86243	GAG		0.463	JTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088996.1	NM_006694		6	135	0	0	0	1	0	6	135				
MED12L	116931	broad.mit.edu	37	3	151095894	151095894	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:151095894G>C	ENST00000474524.1	+	29	4344	c.4306G>C	c.(4306-4308)Gag>Cag	p.E1436Q	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.E1296Q	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1436						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CGCTGGGGAAGAGCTGGAGAA	0.537																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(4306-4308)Gag>Cag		mediator complex subunit 12-like							75.0	70.0	72.0					3																	151095894		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151095894G>C	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.4306G>C	3.37:g.151095894G>C	ENSP00000417235:p.Glu1436Gln					MED12L_ENST00000273432.4_Missense_Mutation_p.E1296Q|P2RY12_ENST00000302632.3_Intron	p.E1436Q	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		29	4344	+			1436					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.4306G>C	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.958620	0.92726	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.29142	1.58;1.58	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.52386	0.1731	L	0.51422	1.61	0.80722	D	1	D;D;D	0.69078	0.997;0.996;0.993	D;D;D	0.75484	0.947;0.986;0.979	T	0.52586	-0.8556	10	0.87932	D	0	-29.4479	18.9274	0.92550	0.0:0.0:1.0:0.0	.	1296;1435;1436	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	Q	1436;1296	ENSP00000417235:E1436Q;ENSP00000273432:E1296Q	ENSP00000273432:E1296Q	E	+	1	0	MED12L	152578584	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	9.044000	0.93805	2.571000	0.86741	0.655000	0.94253	GAG		0.537	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		6	58	0	0	0	1	0	6	58				
PDE6G	5148	broad.mit.edu	37	17	79615062	79615062	+	IGR	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:79615062C>A	ENST00000331056.5	-	0	1023				TSPAN10_ENST00000572675.1_RNA|PDE6G_ENST00000574777.1_5'Flank|TSPAN10_ENST00000328585.4_RNA	NM_002602.3	NP_002593.1	P18545	CNRG_HUMAN	phosphodiesterase 6G, cGMP-specific, rod, gamma						activation of MAPK activity (GO:0000187)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|enzyme inhibitor activity (GO:0004857)			lung(2)|urinary_tract(1)	3	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		Sildenafil(DB00203)|Vardenafil(DB00862)	GATGCGGACGCAGCTCAGAGA	0.711																																					GBM(189;38 2147 16440 40945 46567)	ENST00000328585.4																			0				ovary(1)	1								tetraspanin 10							16.0	20.0	18.0					17																	79615062		2035	4169	6204	SO:0001628	intergenic_variant	83882					integral to membrane		g.chr17:79615062C>A		CCDS11783.1	17q21.1	2014-01-28				ENSG00000185527	3.1.4.17	"""Phosphodiesterases"""	8789	protein-coding gene	gene with protein product		180073		PDEG		2155175	Standard	NM_002602		Approved	RP57	uc002kay.3	P18545			17.37:g.79615062C>A						TSPAN10_ENST00000572675.1_RNA		NM_031945.3	NP_114151.3	Q9H1Z9	TSN10_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		0	896	+	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)							Q3KP63|Q7Z3U8	RNA	SNP	ENST00000331056.5	37		CCDS11783.1	.	.	.	.	.	.	.	.	.	.	C	8.536	0.872216	0.17322	.	.	ENSG00000182612	ENST00000328585	T	0.78924	-1.22	4.48	2.43	0.29744	Tetraspanin, EC2 domain (1);	0.387024	0.25951	N	0.027251	T	0.48696	0.1514	.	.	.	0.09310	N	1	B	0.16166	0.016	B	0.22152	0.038	T	0.40079	-0.9582	9	0.02654	T	1	-4.3299	3.9319	0.09290	0.172:0.5641:0.0:0.2639	.	269	Q9H1Z9	TSN10_HUMAN	E	269	ENSP00000331620:A269E	ENSP00000331620:A269E	A	+	2	0	TSPAN10	77225467	0.000000	0.05858	0.000000	0.03702	0.684000	0.39900	0.507000	0.22675	0.467000	0.27218	0.655000	0.94253	GCA		0.711	PDE6G-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440314.1			4	16	1	0	0.150653	1	0.151001	4	16				
ESRRB	2103	broad.mit.edu	37	14	76928925	76928925	+	Silent	SNP	C	C	T	rs1064439		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:76928925C>T	ENST00000509242.1	+	4	533	c.435C>T	c.(433-435)tgC>tgT	p.C145C	ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000261532.7_Silent_p.C145C|ESRRB_ENST00000380887.2_Silent_p.C145C|ESRRB_ENST00000556177.1_Silent_p.C145C	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	145					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CCAACGAGTGCGAGATCACCA	0.632																																						ENST00000380887.2																			0				endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(433-435)tgC>tgT		estrogen-related receptor beta		C		0,4406		0,0,2203	70.0	68.0	69.0		435	-0.9	1.0	14	dbSNP_86	69	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ESRRB	NM_004452.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		145/509	76928925	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2103					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr14:76928925C>T	X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"""Nuclear hormone receptors"""	3473	protein-coding gene	gene with protein product		602167	"""deafness, autosomal recessive 35"""	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.435C>T	14.37:g.76928925C>T						ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000556177.1_Silent_p.C145C|ESRRB_ENST00000261532.7_Silent_p.C145C|ESRRB_ENST00000509242.1_Silent_p.C145C	p.C145C			A2VDJ2	A2VDJ2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0213)	3	507	+			145					A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Silent	SNP	ENST00000509242.1	37	c.435C>T	CCDS9850.2																																																																																				0.632	ESRRB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360663.1			22	51	0	0	0	1	0	22	51				
MYH4	4622	broad.mit.edu	37	17	10363565	10363565	+	Silent	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:10363565G>C	ENST00000255381.2	-	13	1331	c.1221C>G	c.(1219-1221)gtC>gtG	p.V407V	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	407	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.V407V(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGCCGACCTTGACTCTGGGAT	0.453																																						ENST00000255381.2																			1	Substitution - coding silent(1)	p.V407V(1)	lung(1)	NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(1219-1221)gtC>gtG		myosin, heavy chain 4, skeletal muscle							119.0	107.0	111.0					17																	10363565		2203	4300	6503	SO:0001819	synonymous_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10363565G>C		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.1221C>G	17.37:g.10363565G>C						CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.V407V	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			13	1331	-			407			Myosin head-like.			Silent	SNP	ENST00000255381.2	37	c.1221C>G	CCDS11154.1																																																																																				0.453	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		5	80	0	0	0	1	0	5	80				
MAEA	10296	broad.mit.edu	37	4	1332269	1332269	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:1332269C>T	ENST00000303400.4	+	8	1022	c.959C>T	c.(958-960)tCc>tTc	p.S320F	MAEA_ENST00000452175.2_Missense_Mutation_p.S241F|MAEA_ENST00000512289.1_3'UTR|MAEA_ENST00000510794.1_Missense_Mutation_p.S319F|MAEA_ENST00000505839.1_Missense_Mutation_p.S272F|MAEA_ENST00000264750.6_Missense_Mutation_p.S279F|MAEA_ENST00000514708.1_Missense_Mutation_p.S252F|MAEA_ENST00000505177.2_Missense_Mutation_p.S358F	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	320					cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cytoskeleton organization (GO:0007010)|enucleate erythrocyte development (GO:0048822)|erythrocyte maturation (GO:0043249)|negative regulation of myeloid cell apoptotic process (GO:0033033)|regulation of mitotic cell cycle (GO:0007346)	actomyosin contractile ring (GO:0005826)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)		WF10(DB05389)	TGCAGCCGCTCCCTGAACAAG	0.632																																						ENST00000303400.4																			0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						c.(958-960)tCc>tTc		macrophage erythroblast attacher							58.0	56.0	57.0					4																	1332269		2203	4300	6503	SO:0001583	missense	10296				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding	g.chr4:1332269C>T	AF084928	CCDS33936.1, CCDS33937.1, CCDS75090.1	4p16.3	2012-07-20			ENSG00000090316	ENSG00000090316			13731	protein-coding gene	gene with protein product	"""GID complex subunit 9, FYV10 homolog (S. cerevisiae)"""	606801				9763581	Standard	XM_005272243		Approved	EMP, GID9	uc003gda.3	Q7L5Y9	OTTHUMG00000160169	ENST00000303400.4:c.959C>T	4.37:g.1332269C>T	ENSP00000302830:p.Ser320Phe					MAEA_ENST00000512289.1_3'UTR|MAEA_ENST00000264750.6_Missense_Mutation_p.S279F|MAEA_ENST00000452175.2_Missense_Mutation_p.S241F|MAEA_ENST00000514708.1_Missense_Mutation_p.S252F|MAEA_ENST00000510794.1_Missense_Mutation_p.S319F|MAEA_ENST00000505839.1_Missense_Mutation_p.S272F|MAEA_ENST00000505177.2_Missense_Mutation_p.S358F	p.S320F	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0201)		8	1022	+			320					O95285|Q5JB54|Q6ZRD6|Q9BQ11|Q9H9V6|Q9H9Z4|Q9NW84	Missense_Mutation	SNP	ENST00000303400.4	37	c.959C>T	CCDS33936.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.685892	0.68157	.	.	ENSG00000090316	ENST00000303400;ENST00000505177;ENST00000264750;ENST00000382947;ENST00000539495;ENST00000452175;ENST00000514708;ENST00000510794;ENST00000505839	T;T;T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66;2.66;2.66	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.24774	0.0601	N	0.21448	0.665	0.80722	D	1	B;B;B;D;B;B	0.71674	0.021;0.042;0.009;0.998;0.38;0.017	B;B;B;D;B;B	0.78314	0.013;0.032;0.003;0.991;0.207;0.029	T	0.04976	-1.0914	10	0.25106	T	0.35	-18.2235	18.867	0.92296	0.0:1.0:0.0:0.0	.	319;358;106;252;279;320	B4DVN3;E7ESC7;B3KRN7;D6RIB6;Q7L5Y9-3;Q7L5Y9	.;.;.;.;.;MAEA_HUMAN	F	320;358;279;252;299;241;252;319;272	ENSP00000302830:S320F;ENSP00000422215:S358F;ENSP00000264750:S279F;ENSP00000411415:S241F;ENSP00000427512:S252F;ENSP00000426807:S319F;ENSP00000424436:S272F	ENSP00000264750:S279F	S	+	2	0	MAEA	1322269	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.531000	0.81973	2.443000	0.82685	0.655000	0.94253	TCC		0.632	MAEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359511.1	NM_005882		9	43	0	0	0	1	0	9	43				
TROVE2	6738	broad.mit.edu	37	1	193045690	193045690	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:193045690G>C	ENST00000367446.3	+	4	1071	c.861G>C	c.(859-861)aaG>aaC	p.K287N	TROVE2_ENST00000367444.3_Missense_Mutation_p.K287N|TROVE2_ENST00000416058.2_Missense_Mutation_p.K12N|TROVE2_ENST00000367445.3_Missense_Mutation_p.K287N|TROVE2_ENST00000367441.1_Missense_Mutation_p.K287N|TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000367443.1_Missense_Mutation_p.K287N|TROVE2_ENST00000400968.2_Missense_Mutation_p.K287N|TROVE2_ENST00000432079.1_Missense_Mutation_p.K12N	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	287	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						ATCTAGGAAAGATGACTGCTA	0.338																																						ENST00000432079.1																			0				biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						c.(34-36)aaG>aaC		TROVE domain family, member 2							113.0	108.0	110.0					1																	193045690		1821	4085	5906	SO:0001583	missense	6738				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding	g.chr1:193045690G>C	BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"""Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"""	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.861G>C	1.37:g.193045690G>C	ENSP00000356416:p.Lys287Asn					TROVE2_ENST00000367444.3_Missense_Mutation_p.K287N|TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000367446.3_Missense_Mutation_p.K287N|TROVE2_ENST00000367441.1_Missense_Mutation_p.K287N|TROVE2_ENST00000367445.3_Missense_Mutation_p.K287N|TROVE2_ENST00000416058.2_Missense_Mutation_p.K12N|TROVE2_ENST00000367443.1_Missense_Mutation_p.K287N|TROVE2_ENST00000400968.2_Missense_Mutation_p.K287N	p.K12N			P10155	RO60_HUMAN			3	604	+			287					B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	Missense_Mutation	SNP	ENST00000367446.3	37	c.36G>C	CCDS1379.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698820	0.68501	.	.	ENSG00000116747	ENST00000400968;ENST00000416058;ENST00000367446;ENST00000367443;ENST00000367445;ENST00000367444;ENST00000367441	T;T;T;T;T;T;T	0.11277	2.79;2.79;2.79;2.79;2.79;2.79;2.79	5.38	1.45	0.22620	TROVE (2);	0.044811	0.85682	D	0.000000	T	0.22551	0.0544	M	0.69185	2.1	0.52099	D	0.999948	P;P;D;D	0.89917	0.919;0.919;0.999;1.0	P;P;D;D	0.83275	0.771;0.771;0.991;0.996	T	0.25676	-1.0125	10	0.07175	T	0.84	-25.0062	10.2277	0.43236	0.2682:0.0:0.7318:0.0	.	287;287;287;287	Q5LJ99;Q5LJ98;Q5LJA0;P10155	.;.;.;RO60_HUMAN	N	287;12;287;287;287;287;287	ENSP00000383752:K287N;ENSP00000411421:K12N;ENSP00000356416:K287N;ENSP00000356413:K287N;ENSP00000356415:K287N;ENSP00000356414:K287N;ENSP00000356411:K287N	ENSP00000356411:K287N	K	+	3	2	TROVE2	191312313	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	3.447000	0.52936	0.089000	0.17243	-0.261000	0.10672	AAG		0.338	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086688.1	NM_004600		8	67	0	0	0	1	0	8	67				
GNB5	10681	broad.mit.edu	37	15	52416726	52416726	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:52416726G>A	ENST00000261837.7	-	12	1185	c.1120C>T	c.(1120-1122)Cga>Tga	p.R374*	GNB5_ENST00000559348.1_5'UTR|CTD-2184D3.6_ENST00000559825.1_lincRNA|GNB5_ENST00000396335.4_Nonsense_Mutation_p.R262*|GNB5_ENST00000358784.7_Nonsense_Mutation_p.R332*|CTD-2184D3.7_ENST00000557898.1_RNA	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	374					GTP catabolic process (GO:0006184)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|G-protein gamma-subunit binding (GO:0031682)|GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		GGGGAAACTCGTAGAGTGCTA	0.488																																						ENST00000261837.7																			0				large_intestine(1)|lung(1)	2						c.(1120-1122)Cga>Tga		guanine nucleotide binding protein (G protein), beta 5							108.0	107.0	107.0					15																	52416726		2195	4293	6488	SO:0001587	stop_gained	0					heterotrimeric G-protein complex	GTPase activity|signal transducer activity	g.chr15:52416726G>A	AF017656	CCDS10149.1, CCDS45261.1	15q21.1	2013-01-10			ENSG00000069966	ENSG00000069966		"""WD repeat domain containing"""	4401	protein-coding gene	gene with protein product		604447				9606987	Standard	NM_016194		Approved	GB5	uc031qrz.1	O14775	OTTHUMG00000131892	ENST00000261837.7:c.1120C>T	15.37:g.52416726G>A	ENSP00000261837:p.Arg374*					GNB5_ENST00000559348.1_5'UTR|GNB5_ENST00000358784.7_Nonsense_Mutation_p.R332*|GNB5_ENST00000396335.4_Nonsense_Mutation_p.R262*	p.R374*	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN		all cancers(107;0.0163)	12	1185	-			374					B2RBR5|Q9HAU9|Q9UFT3	Nonsense_Mutation	SNP	ENST00000261837.7	37	c.1120C>T	CCDS10149.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129298	0.77549	.	.	ENSG00000069966	ENST00000261837;ENST00000396335;ENST00000544480;ENST00000358784	.	.	.	5.98	3.05	0.35203	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-13.7631	12.3539	0.55163	0.0:0.116:0.6424:0.2416	.	.	.	.	X	374;332;172;262	.	ENSP00000261837:R374X	R	-	1	2	GNB5	50204018	1.000000	0.71417	0.012000	0.15200	0.290000	0.27261	3.488000	0.53229	0.412000	0.25729	-0.194000	0.12790	CGA		0.488	GNB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254842.1			7	121	0	0	0	1	0	7	121				
FAM92A1	137392	broad.mit.edu	37	8	94740446	94740446	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr8:94740446G>A	ENST00000518322.1	+	9	932	c.791G>A	c.(790-792)cGa>cAa	p.R264Q	RBM12B_ENST00000520961.1_5'Flank|FAM92A1_ENST00000423990.2_Missense_Mutation_p.R226Q|FAM92A1_ENST00000517718.1_Missense_Mutation_p.R109Q|FAM92A1_ENST00000520363.1_3'UTR	NM_145269.3	NP_660312.2	A1XBS5	F92A1_HUMAN	family with sequence similarity 92, member A1	264										NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)	7	Breast(36;2.4e-06)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TCCACTTGTCGACTAAGAAAG	0.279																																						ENST00000518322.1																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)	7						c.(790-792)cGa>cAa		family with sequence similarity 92, member A1							92.0	85.0	87.0					8																	94740446		1826	4073	5899	SO:0001583	missense	137392							g.chr8:94740446G>A		CCDS47892.1, CCDS64933.1	8q22.1	2005-09-22			ENSG00000188343	ENSG00000188343			30452	protein-coding gene	gene with protein product						12477932	Standard	XM_005250783		Approved	FLJ38979	uc022ayd.1	A1XBS5	OTTHUMG00000164238	ENST00000518322.1:c.791G>A	8.37:g.94740446G>A	ENSP00000429367:p.Arg264Gln					FAM92A1_ENST00000520363.1_3'UTR|FAM92A1_ENST00000517718.1_Missense_Mutation_p.R109Q|FAM92A1_ENST00000423990.2_Missense_Mutation_p.R226Q	p.R264Q	NM_145269.3	NP_660312.2	A1XBS5	F92A1_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		9	932	+	Breast(36;2.4e-06)		264					A1XBS4|Q32ND3|Q6AHW7|Q8N8R1|Q96L09	Missense_Mutation	SNP	ENST00000518322.1	37	c.791G>A	CCDS47892.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.130019	0.37630	.	.	ENSG00000188343	ENST00000518322;ENST00000423990;ENST00000436526;ENST00000517718;ENST00000521641	T;T;T;T	0.45668	1.48;1.38;0.89;0.89	5.43	1.61	0.23674	.	.	.	.	.	T	0.24470	0.0593	N	0.17474	0.49	0.80722	D	1	B;B	0.18741	0.03;0.023	B;B	0.12156	0.007;0.001	T	0.05582	-1.0876	9	0.62326	D	0.03	-3.0936	7.0449	0.25040	0.3628:0.0:0.6372:0.0	.	226;264	A1XBS5-2;A1XBS5	.;F92A1_HUMAN	Q	264;226;226;109;109	ENSP00000429367:R264Q;ENSP00000401774:R226Q;ENSP00000428874:R109Q;ENSP00000428751:R109Q	ENSP00000401774:R226Q	R	+	2	0	FAM92A1	94809622	0.998000	0.40836	0.996000	0.52242	0.880000	0.50808	1.466000	0.35310	0.356000	0.24157	-0.136000	0.14681	CGA		0.279	FAM92A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377890.4	NM_145269		6	37	0	0	0	1	0	6	37				
VPS13B	157680	broad.mit.edu	37	8	100205244	100205244	+	Missense_Mutation	SNP	C	C	T	rs376354130		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr8:100205244C>T	ENST00000358544.2	+	17	2585	c.2474C>T	c.(2473-2475)gCa>gTa	p.A825V	VPS13B_ENST00000395996.1_Missense_Mutation_p.A825V|VPS13B_ENST00000355155.1_Missense_Mutation_p.A825V|VPS13B_ENST00000357162.2_Missense_Mutation_p.A825V|VPS13B_ENST00000521932.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	825					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGCTCTTCCGCAGTGATTGAA	0.358																																					Colon(161;2205 2542 7338 31318)	ENST00000395996.1																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(2473-2475)gCa>gTa		vacuolar protein sorting 13 homolog B (yeast)							113.0	109.0	110.0					8																	100205244		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100205244C>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.2474C>T	8.37:g.100205244C>T	ENSP00000351346:p.Ala825Val					VPS13B_ENST00000521932.1_3'UTR|VPS13B_ENST00000358544.2_Missense_Mutation_p.A825V|VPS13B_ENST00000357162.2_Missense_Mutation_p.A825V|VPS13B_ENST00000355155.1_Missense_Mutation_p.A825V	p.A825V			Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		17	2585	+	Breast(36;3.73e-07)		825					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.2474C>T	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	4.681	0.126582	0.08931	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996	T;T;T;T	0.75477	-0.94;-0.2;-0.2;0.08	4.8	-1.53	0.08611	.	0.574265	0.16062	N	0.231426	T	0.44829	0.1312	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.0;0.0;0.001	T	0.36016	-0.9765	10	0.02654	T	1	.	4.6624	0.12648	0.0:0.1757:0.3423:0.482	.	825;825;825;825;825	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4	.;.;VP13B_HUMAN;.;.	V	825	ENSP00000347281:A825V;ENSP00000349685:A825V;ENSP00000351346:A825V;ENSP00000379318:A825V	ENSP00000347281:A825V	A	+	2	0	VPS13B	100274420	0.004000	0.15560	0.655000	0.29622	0.106000	0.19336	0.193000	0.17116	-0.170000	0.10816	0.460000	0.39030	GCA		0.358	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		4	38	0	0	0	1	0	4	38				
ANKLE2	23141	broad.mit.edu	37	12	133331678	133331678	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:133331678G>C	ENST00000357997.5	-	2	312	c.223C>G	c.(223-225)Ctg>Gtg	p.L75V	ANKLE2_ENST00000539605.1_Missense_Mutation_p.L13V|ANKLE2_ENST00000337516.5_Missense_Mutation_p.L75V	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	75	LEM. {ECO:0000255|PROSITE- ProRule:PRU00313}.				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)			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)		TCTGGATTCAGAAGTTTCAAT	0.403																																						ENST00000539605.1																			0				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						c.(37-39)Ctg>Gtg		ankyrin repeat and LEM domain containing 2							85.0	80.0	82.0					12																	133331678		1871	4111	5982	SO:0001583	missense	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133331678G>C	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.223C>G	12.37:g.133331678G>C	ENSP00000350686:p.Leu75Val					ANKLE2_ENST00000337516.5_Missense_Mutation_p.L75V|ANKLE2_ENST00000357997.5_Missense_Mutation_p.L75V	p.L13V			Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	1	6721	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	75					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	ENST00000357997.5	37	c.37C>G	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.775027	0.49786	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516	T;T;T	0.59364	0.6;0.52;0.27	5.4	2.09	0.27110	LEM-like domain (2);Lamino-associated polypeptide 2/emerin (1);	0.000000	0.85682	D	0.000000	T	0.69958	0.3169	M	0.68593	2.085	0.48040	D	0.999575	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.69734	-0.5065	10	0.87932	D	0	-18.4548	9.392	0.38378	0.2682:0.0:0.7318:0.0	.	75;75	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	V	13;75;75	ENSP00000446268:L13V;ENSP00000350686:L75V;ENSP00000337651:L75V	ENSP00000337651:L75V	L	-	1	2	ANKLE2	131841751	1.000000	0.71417	0.993000	0.49108	0.372000	0.29890	3.161000	0.50747	0.460000	0.27045	0.644000	0.83932	CTG		0.403	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			10	97	0	0	0	1	0	10	97				
MAP3K15	389840	broad.mit.edu	37	X	19507020	19507020	+	Nonsense_Mutation	SNP	G	G	A	rs370173616		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:19507020G>A	ENST00000338883.4	-	2	426	c.427C>T	c.(427-429)Cga>Tga	p.R143*	MAP3K15_ENST00000469203.2_5'Flank	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	143							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					AAGCTTTCTCGGACTCCAAGA	0.488																																						ENST00000338883.4																			0				NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(427-429)Cga>Tga		mitogen-activated protein kinase kinase kinase 15		G	stop/ARG	1,2626		0,0,1,1059,508	161.0	132.0	141.0		427	4.5	1.0	X		141	0,5498		0,0,0,1916,1666	no	stop-gained	MAP3K15	NM_001001671.3		0,0,1,2975,2174	AA,AG,A,GG,G		0.0,0.0381,0.0123		143/1314	19507020	1,8124	1568	3582	5150	SO:0001587	stop_gained	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19507020G>A	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.427C>T	X.37:g.19507020G>A	ENSP00000345629:p.Arg143*						p.R143*	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN			2	426	-	Hepatocellular(33;0.183)		143					A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Nonsense_Mutation	SNP	ENST00000338883.4	37	c.427C>T		.	.	.	.	.	.	.	.	.	.	G	36	5.762057	0.96906	3.81E-4	0.0	ENSG00000180815	ENST00000338883	.	.	.	5.34	4.48	0.54585	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0072	0.58712	0.081:0.0:0.919:0.0	.	.	.	.	X	143	.	ENSP00000345629:R143X	R	-	1	2	MAP3K15	19416941	1.000000	0.71417	0.968000	0.41197	0.826000	0.46750	3.469000	0.53093	1.033000	0.39918	0.600000	0.82982	CGA		0.488	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		24	84	0	0	0	1	0	24	84				
MRPS7	51081	broad.mit.edu	37	17	73259478	73259478	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:73259478G>A	ENST00000245539.6	+	4	624	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	GGA3_ENST00000582486.1_5'Flank|GGA3_ENST00000579743.1_5'Flank|GGA3_ENST00000578348.1_5'Flank|GGA3_ENST00000582717.1_5'Flank|GGA3_ENST00000245541.6_5'Flank|GGA3_ENST00000537686.1_5'Flank|MRPS7_ENST00000579002.1_Missense_Mutation_p.E162K|GGA3_ENST00000538886.1_5'Flank|MRPS7_ENST00000579761.1_Missense_Mutation_p.E133K|GGA3_ENST00000351904.7_5'Flank	NM_015971.3	NP_057055.2	Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	133					translation (GO:0006412)	cytosolic small ribosomal subunit (GO:0022627)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			TTCTGCAGAGGAACAGGCAAC	0.522																																						ENST00000579761.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6						c.(397-399)Gaa>Aaa		mitochondrial ribosomal protein S7							255.0	242.0	247.0					17																	73259478		2203	4300	6503	SO:0001583	missense	51081				translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome	g.chr17:73259478G>A	AB051348	CCDS11718.1	17q25.1	2012-09-13				ENSG00000125445		"""Mitochondrial ribosomal proteins / small subunits"""	14499	protein-coding gene	gene with protein product		611974					Standard	NM_015971		Approved	MRP-S, RP-S7, RPMS7	uc002jnm.4	Q9Y2R9		ENST00000245539.6:c.397G>A	17.37:g.73259478G>A	ENSP00000245539:p.Glu133Lys					MRPS7_ENST00000579002.1_Missense_Mutation_p.E162K|MRPS7_ENST00000245539.6_Missense_Mutation_p.E133K	p.E133K			Q9Y2R9	RT07_HUMAN	all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)		4	624	+	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		133					B2R9N5|Q53GD6	Missense_Mutation	SNP	ENST00000245539.6	37	c.397G>A	CCDS11718.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967428	0.53507	.	.	ENSG00000125445	ENST00000245539	T	0.48201	0.82	5.53	4.56	0.56223	Ribosomal protein S7 domain (3);	0.198201	0.53938	D	0.000048	T	0.40645	0.1125	L	0.39566	1.225	0.49915	D	0.999832	B	0.29378	0.243	B	0.31101	0.124	T	0.22068	-1.0227	10	0.33940	T	0.23	-8.8175	14.0077	0.64475	0.0723:0.0:0.9277:0.0	.	133	Q9Y2R9	RT07_HUMAN	K	133	ENSP00000245539:E133K	ENSP00000245539:E133K	E	+	1	0	MRPS7	70771073	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	1.708000	0.37899	1.321000	0.45227	0.563000	0.77884	GAA		0.522	MRPS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446666.1	NM_015971		48	425	0	0	0	1	0	48	425				
NBPF20	100288142	broad.mit.edu	37	1	148344650	148344650	+	Missense_Mutation	SNP	C	C	T	rs370974831		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:148344650C>T	ENST00000369202.1	-	3	465	c.268G>A	c.(268-270)Gag>Aag	p.E90K	NBPF20_ENST00000414710.2_Missense_Mutation_p.E90K			Q3BBV1	NBPFK_HUMAN	neuroblastoma breakpoint family, member 20	90						cytoplasm (GO:0005737)				breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						CTGAGCTCCTCAGCTTGCTTG	0.517																																						ENST00000369202.1																			0				breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						c.(268-270)Gag>Aag		neuroblastoma breakpoint family, member 20							147.0	156.0	153.0					1																	148344650		1821	3915	5736	SO:0001583	missense	100288142							g.chr1:148344650C>T		CCDS72856.1	1q21.2	2014-01-16			ENSG00000203832			"""neuroblastoma breakpoint family"""	32000	protein-coding gene	gene with protein product		614007				16079250	Standard	NM_001278267		Approved			Q3BBV1	OTTHUMG00000042439	ENST00000369202.1:c.268G>A	1.37:g.148344650C>T	ENSP00000358203:p.Glu90Lys					NBPF20_ENST00000414710.2_Missense_Mutation_p.E90K	p.E90K							3	465	-									Missense_Mutation	SNP	ENST00000369202.1	37	c.268G>A		.	.	.	.	.	.	.	.	.	.	.	9.651	1.141640	0.21205	.	.	ENSG00000203832	ENST00000369202;ENST00000369188;ENST00000414710	T;T;T	0.04119	4.1;4.16;3.7	0.521	-1.04	0.10068	.	.	.	.	.	T	0.04092	0.0114	.	.	.	0.22521	N	0.99903	P;D;P	0.60160	0.88;0.987;0.458	P;P;B	0.62491	0.636;0.903;0.292	T	0.28364	-1.0046	6	0.30854	T	0.27	.	.	.	.	.	90;90;15	Q6P3W6;F5H1Q5;Q5VTG7	NBPFA_HUMAN;.;.	K	90	ENSP00000358203:E90K;ENSP00000358189:E90K;ENSP00000389520:E90K	ENSP00000358189:E90K	E	-	1	0	NBPF20	146711274	0.000000	0.05858	0.008000	0.14137	0.014000	0.08584	-1.401000	0.02502	-0.716000	0.04962	-1.109000	0.02080	GAG		0.517	NBPF20-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000100689.2			9	397	0	0	0	1	0	9	397				
SPSB2	84727	broad.mit.edu	37	12	6981730	6981730	+	Silent	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:6981730G>T	ENST00000524270.1	-	2	522	c.336C>A	c.(334-336)ctC>ctA	p.L112L	RPL13P5_ENST00000412023.1_RNA|LRRC23_ENST00000433346.1_5'Flank|SPSB2_ENST00000523102.1_Silent_p.L112L|SPSB2_ENST00000519357.1_Silent_p.L112L	NM_032641.3	NP_116030.1	Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box containing 2	112	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						GCAGCGGGGCGAGGGCCGTGG	0.687											OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000519357.1																			0				kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(334-336)ctC>ctA		splA/ryanodine receptor domain and SOCS box containing 2							28.0	31.0	30.0					12																	6981730		2201	4297	6498	SO:0001819	synonymous_variant	84727				intracellular signal transduction	cytoplasm	protein binding	g.chr12:6981730G>T	AF403027	CCDS8567.1	12p13.31	2008-02-05				ENSG00000111671			29522	protein-coding gene	gene with protein product		611658				8723724, 12076535	Standard	NM_001146316		Approved	GRCC9, SSB-2	uc001qrl.3	Q99619		ENST00000524270.1:c.336C>A	12.37:g.6981730G>T			OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	638	SPSB2_ENST00000523102.1_Silent_p.L112L|SPSB2_ENST00000524270.1_Silent_p.L112L	p.L112L			Q99619	SPSB2_HUMAN			2	522	-			112			B30.2/SPRY.		B7Z4W1|D3DUT0	Silent	SNP	ENST00000524270.1	37	c.336C>A	CCDS8567.1																																																																																				0.687	SPSB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375721.1	NM_032641		9	82	1	0	5.4927e-09	1	5.9436e-09	9	82				
PRKAR1A	5573	broad.mit.edu	37	17	66526119	66526119	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:66526119G>T	ENST00000589228.1	+	10	1078	c.950G>T	c.(949-951)aGa>aTa	p.R317I	PRKAR1A_ENST00000358598.2_Missense_Mutation_p.R317I|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.R317I|PRKAR1A_ENST00000586397.1_Missense_Mutation_p.R317I|PRKAR1A_ENST00000588188.2_Missense_Mutation_p.R317I|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.R317I	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	317					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cardiac muscle cell proliferation (GO:0060038)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sarcomere organization (GO:0045214)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					GAAGTGGGAAGATTGGGGCCT	0.383			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of																												Ovarian(167;637 1670 33025 39608 46699 51856)	ENST00000589228.1			yes	"""Dom, Rec"""	yes	Carney complex	17	17q23-q24	5573	"""T, Mis, N, F, S"""	"""protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)"""			"""E, M"""	RET	"""myxoma, endocrine, papillary thyroid"""	papillary thyroid		0				adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31						c.(949-951)aGa>aTa		protein kinase, cAMP-dependent, regulatory, type I, alpha							225.0	232.0	230.0					17																	66526119		2203	4300	6503	SO:0001583	missense	5573	Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2;Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome;	activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding	g.chr17:66526119G>T		CCDS11678.1, CCDS62307.1	17q24.2	2014-09-17	2012-07-31		ENSG00000108946	ENSG00000108946	2.7.11.1		9388	protein-coding gene	gene with protein product	"""Carney complex type 1"""	188830	"""tissue specific extinguisher 1"""	PRKAR1, TSE1		3479018, 10973256	Standard	NM_212471		Approved	CNC1	uc002jhg.4	P10644	OTTHUMG00000180128	ENST00000589228.1:c.950G>T	17.37:g.66526119G>T	ENSP00000464977:p.Arg317Ile					PRKAR1A_ENST00000586397.1_Missense_Mutation_p.R317I|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.R317I|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.R317I|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.R317I|PRKAR1A_ENST00000588188.2_Missense_Mutation_p.R317I	p.R317I	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN			10	1078	+	Breast(10;1.64e-13)		317					K7ER48|Q567S7	Missense_Mutation	SNP	ENST00000589228.1	37	c.950G>T	CCDS11678.1	.	.	.	.	.	.	.	.	.	.	G	36	5.620383	0.96660	.	.	ENSG00000108946	ENST00000358598;ENST00000392711;ENST00000392710;ENST00000536854	D;D;D	0.92397	-3.03;-3.03;-3.03	5.99	5.99	0.97316	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.046388	0.85682	D	0.000000	D	0.88142	0.6357	N	0.25992	0.78	0.80722	D	1	P;P	0.35192	0.489;0.489	B;B	0.32533	0.147;0.147	D	0.87155	0.2211	10	0.59425	D	0.04	-24.6879	20.4574	0.99148	0.0:0.0:1.0:0.0	.	317;317	B2R5T5;P10644	.;KAP0_HUMAN	I	317	ENSP00000351410:R317I;ENSP00000376475:R317I;ENSP00000445625:R317I	ENSP00000351410:R317I	R	+	2	0	PRKAR1A	64037714	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.230000	0.95299	2.843000	0.97960	0.591000	0.81541	AGA		0.383	PRKAR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449884.1			11	88	1	0	2.27111e-07	1	2.4214e-07	11	88				
SOAT1	6646	broad.mit.edu	37	1	179320591	179320591	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:179320591G>A	ENST00000367619.3	+	15	1733	c.1590G>A	c.(1588-1590)ctG>ctA	p.L530L	SOAT1_ENST00000535686.1_Silent_p.L266L|SOAT1_ENST00000540564.1_Silent_p.L472L|SOAT1_ENST00000539888.1_Silent_p.L465L	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	530					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	ACTGTCCTCTGAAAAATGTGA	0.438																																						ENST00000367619.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20						c.(1588-1590)ctG>ctA		sterol O-acyltransferase 1	Ezetimibe(DB00973)|Hesperetin(DB01094)						165.0	155.0	158.0					1																	179320591		2203	4300	6503	SO:0001819	synonymous_variant	6646				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr1:179320591G>A	L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"""acyl-Coenzyme A: cholesterol acyltransferase"""	102642	"""sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"""	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.1590G>A	1.37:g.179320591G>A						SOAT1_ENST00000539888.1_Silent_p.L465L|SOAT1_ENST00000540564.1_Silent_p.L472L|SOAT1_ENST00000535686.1_Silent_p.L266L	p.L530L	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN			15	1733	+			530					A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Silent	SNP	ENST00000367619.3	37	c.1590G>A	CCDS1330.1																																																																																				0.438	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085286.2	NM_003101		13	126	0	0	0	1	0	13	126				
SEMA6D	80031	broad.mit.edu	37	15	48058076	48058076	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:48058076G>A	ENST00000316364.5	+	14	1877	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	SEMA6D_ENST00000537942.1_Missense_Mutation_p.E480K|SEMA6D_ENST00000389428.3_Missense_Mutation_p.E480K|SEMA6D_ENST00000355997.3_Missense_Mutation_p.E480K|SEMA6D_ENST00000358066.4_Missense_Mutation_p.E480K|SEMA6D_ENST00000389433.2_Missense_Mutation_p.E480K|SEMA6D_ENST00000558816.1_Missense_Mutation_p.E480K|SEMA6D_ENST00000389432.2_Missense_Mutation_p.E480K|SEMA6D_ENST00000536845.2_Missense_Mutation_p.E480K|SEMA6D_ENST00000354744.4_Missense_Mutation_p.E480K|SEMA6D_ENST00000558014.1_Missense_Mutation_p.E480K	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	480	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GTGCAGTGCTGAGAATGAGGA	0.423																																						ENST00000316364.5																			0				biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77						c.(1438-1440)Gag>Aag		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D							164.0	141.0	149.0					15																	48058076		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48058076G>A	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.1438G>A	15.37:g.48058076G>A	ENSP00000324857:p.Glu480Lys					SEMA6D_ENST00000355997.3_Missense_Mutation_p.E480K|SEMA6D_ENST00000358066.4_Missense_Mutation_p.E480K|SEMA6D_ENST00000389432.2_Missense_Mutation_p.E480K|SEMA6D_ENST00000389428.3_Missense_Mutation_p.E480K|SEMA6D_ENST00000537942.1_Missense_Mutation_p.E480K|SEMA6D_ENST00000558816.1_Missense_Mutation_p.E480K|SEMA6D_ENST00000536845.2_Missense_Mutation_p.E480K|SEMA6D_ENST00000389433.2_Missense_Mutation_p.E480K|SEMA6D_ENST00000558014.1_Missense_Mutation_p.E480K|SEMA6D_ENST00000354744.4_Missense_Mutation_p.E480K	p.E480K	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	14	1877	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	480			Sema.		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.1438G>A	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.637315	0.29157	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997	T;T;T;T;T;T;T;T;T	0.17528	2.34;2.33;2.33;2.35;2.35;2.34;2.34;2.34;2.27	5.68	5.68	0.88126	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (3);	0.238525	0.44285	D	0.000464	T	0.16385	0.0394	L	0.43152	1.355	0.46279	D	0.998967	B;B;B;B;B	0.26512	0.007;0.003;0.004;0.151;0.007	B;B;B;B;B	0.33121	0.01;0.006;0.007;0.158;0.01	T	0.04650	-1.0936	10	0.09590	T	0.72	.	13.046	0.58925	0.0734:0.0:0.9266:0.0	.	480;480;480;480;480	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	K	480	ENSP00000442040:E480K;ENSP00000446152:E480K;ENSP00000324857:E480K;ENSP00000374084:E480K;ENSP00000374083:E480K;ENSP00000346786:E480K;ENSP00000350770:E480K;ENSP00000374079:E480K;ENSP00000348276:E480K	ENSP00000324857:E480K	E	+	1	0	SEMA6D	45845368	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	6.145000	0.71769	2.680000	0.91292	0.650000	0.86243	GAG		0.423	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		13	81	0	0	0	1	0	13	81				
P2RX7	5027	broad.mit.edu	37	12	121570869	121570869	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:121570869C>T	ENST00000546057.1	+	1	239	c.96C>T	c.(94-96)ttC>ttT	p.F32F	P2RX7_ENST00000541446.1_5'UTR|P2RX7_ENST00000328963.5_5'UTR|P2RX7_ENST00000377162.2_Silent_p.F32F|P2RX7_ENST00000535250.1_5'UTR|P2RX7_ENST00000443520.3_3'UTR	NM_002562.5	NP_002553	Q99572	P2RX7_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	32					apoptotic signaling pathway (GO:0097190)|bleb assembly (GO:0032060)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|membrane depolarization (GO:0051899)|negative regulation of bone resorption (GO:0045779)|negative regulation of MAPK cascade (GO:0043409)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|pore complex assembly (GO:0046931)|positive regulation of bone mineralization (GO:0030501)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cytolysis (GO:0045919)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of interleukin-1 beta secretion (GO:0050718)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of killing of cells of other organism (GO:0051709)|regulation of sodium ion transport (GO:0002028)|response to ATP (GO:0033198)|sensory perception of pain (GO:0019233)	bleb (GO:0032059)|cytoplasm (GO:0005737)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|lipopolysaccharide binding (GO:0001530)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTAAGTGGTTCTTCCACGTGA	0.527																																						ENST00000546057.1																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19						c.(94-96)ttC>ttT		purinergic receptor P2X, ligand-gated ion channel, 7							192.0	155.0	167.0					12																	121570869		2203	4300	6503	SO:0001819	synonymous_variant	5027					integral to membrane	ATP binding|ion channel activity|receptor activity	g.chr12:121570869C>T	Y09561	CCDS9213.1	12q24	2012-01-17			ENSG00000089041	ENSG00000089041		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8537	protein-coding gene	gene with protein product		602566				9038151, 9826911	Standard	NM_002562		Approved	P2X7, MGC20089	uc001tzm.3	Q99572	OTTHUMG00000169153	ENST00000546057.1:c.96C>T	12.37:g.121570869C>T						P2RX7_ENST00000377162.2_Silent_p.F32F|P2RX7_ENST00000328963.5_5'UTR|P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000535250.1_5'UTR|P2RX7_ENST00000541446.1_5'UTR	p.F32F	NM_002562.5	NP_002553.3	A8K2Z0	A8K2Z0_HUMAN			1	239	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		32					A8K2Z0|E7EMK6|F5H6P2|F5H7E8|F8W951|O14991|Q4VKH8|Q4VKH9|Q4VKI0|Q4VKI1|Q4VKI2|Q4VKI3|Q4VKI4|Q7Z771|Q96EV7	Silent	SNP	ENST00000546057.1	37	c.96C>T	CCDS9213.1																																																																																				0.527	P2RX7-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402532.1	NM_002562		10	139	0	0	0	1	0	10	139				
MAGEA10	4109	broad.mit.edu	37	X	151303366	151303366	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:151303366C>T	ENST00000370323.4	-	4	1043	c.727G>A	c.(727-729)Gag>Aag	p.E243K	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.E243K	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	243	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ATGACCTCCTCAGGGGTGCAG	0.512																																						ENST00000370323.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(727-729)Gag>Aag		melanoma antigen family A, 10							75.0	70.0	72.0					X																	151303366		2203	4300	6503	SO:0001583	missense	4109							g.chrX:151303366C>T		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.727G>A	X.37:g.151303366C>T	ENSP00000359347:p.Glu243Lys					MAGEA10_ENST00000244096.3_Missense_Mutation_p.E243K|RP11-1007I13.4_ENST00000509345.2_RNA	p.E243K	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN			4	1043	-	Acute lymphoblastic leukemia(192;6.56e-05)		243			MAGE.			Missense_Mutation	SNP	ENST00000370323.4	37	c.727G>A	CCDS14705.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.185882	0.78789	.	.	ENSG00000124260	ENST00000370323;ENST00000244096	T;T	0.10192	2.9;2.9	2.6	2.6	0.31112	.	0.055211	0.64402	D	0.000001	T	0.37237	0.0996	M	0.93375	3.41	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.14643	-1.0465	10	0.87932	D	0	.	7.8732	0.29578	0.0:1.0:0.0:0.0	.	243	P43363	MAGAA_HUMAN	K	243	ENSP00000359347:E243K;ENSP00000244096:E243K	ENSP00000244096:E243K	E	-	1	0	MAGEA10	151054022	0.054000	0.20591	0.008000	0.14137	0.910000	0.53928	1.363000	0.34159	1.567000	0.49668	0.292000	0.19580	GAG		0.512	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		12	95	0	0	0	1	0	12	95				
PBRM1	55193	broad.mit.edu	37	3	52696199	52696199	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:52696199C>T	ENST00000296302.7	-	4	479	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	PBRM1_ENST00000394830.3_Missense_Mutation_p.E160K|PBRM1_ENST00000409767.1_Missense_Mutation_p.E160K|PBRM1_ENST00000410007.1_Missense_Mutation_p.E160K|PBRM1_ENST00000337303.4_Missense_Mutation_p.E160K|PBRM1_ENST00000409057.1_Missense_Mutation_p.E160K|PBRM1_ENST00000356770.4_Missense_Mutation_p.E160K|PBRM1_ENST00000409114.3_Missense_Mutation_p.E160K			Q86U86	PB1_HUMAN	polybromo 1	160			E -> A (found in a malignant melanoma cell line). {ECO:0000269|PubMed:21248752}.		chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E160*(3)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCATCATCTTCGTCATCTGCT	0.453			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		3	Substitution - Nonsense(3)	p.E160*(3)	kidney(3)	breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(478-480)Gaa>Aaa		polybromo 1							333.0	291.0	306.0					3																	52696199		2203	4300	6503	SO:0001583	missense	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52696199C>T	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.478G>A	3.37:g.52696199C>T	ENSP00000296302:p.Glu160Lys					PBRM1_ENST00000409767.1_Missense_Mutation_p.E160K|PBRM1_ENST00000410007.1_Missense_Mutation_p.E160K|PBRM1_ENST00000409114.3_Missense_Mutation_p.E160K|PBRM1_ENST00000409057.1_Missense_Mutation_p.E160K|PBRM1_ENST00000394830.3_Missense_Mutation_p.E160K|PBRM1_ENST00000337303.4_Missense_Mutation_p.E160K|PBRM1_ENST00000296302.7_Missense_Mutation_p.E160K	p.E160K			Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	4	480	-			160		E -> A (found in a malignant melanoma cell line).			A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.478G>A		.	.	.	.	.	.	.	.	.	.	C	25.0	4.595303	0.86953	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103;ENST00000431678	T;T;T;T;T;T;T;T;T;T;T	0.46819	1.34;1.33;1.37;1.33;1.33;1.33;1.79;1.33;1.32;1.31;0.86	5.5	5.5	0.81552	Bromodomain (1);	0.298816	0.36066	N	0.002804	T	0.22205	0.0535	N	0.08118	0	0.80722	D	1	B;B;P;P;B;B;P;P;P	0.48640	0.098;0.335;0.47;0.47;0.33;0.283;0.913;0.47;0.47	B;B;B;B;B;B;B;B;B	0.30855	0.023;0.032;0.035;0.035;0.017;0.057;0.121;0.035;0.035	T	0.30475	-0.9977	10	0.06365	T	0.9	-2.7705	19.4035	0.94640	0.0:1.0:0.0:0.0	.	160;160;160;160;160;160;160;160;160	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	K	160;160;160;160;160;160;160;160;160;104;160	ENSP00000349213:E160K;ENSP00000378307:E160K;ENSP00000296302:E160K;ENSP00000338302:E160K;ENSP00000386593:E160K;ENSP00000386529:E160K;ENSP00000386643:E160K;ENSP00000386601:E160K;ENSP00000387775:E160K;ENSP00000397662:E104K;ENSP00000409939:E160K	ENSP00000296302:E160K	E	-	1	0	PBRM1	52671239	1.000000	0.71417	0.993000	0.49108	0.967000	0.64934	7.277000	0.78572	2.590000	0.87494	0.650000	0.86243	GAA		0.453	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		28	172	0	0	0	1	0	28	172				
ZNF80	7634	broad.mit.edu	37	3	113955901	113955901	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:113955901C>T	ENST00000482457.2	-	1	524	c.21G>A	c.(19-21)ggG>ggA	p.G7G	RP11-553L6.2_ENST00000481773.1_RNA|RP11-553L6.2_ENST00000493033.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	7					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				CTGTCCCCAACCCATCGCGTT	0.527																																					GBM(23;986 1114 21716)	ENST00000482457.2																			0				NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32						c.(19-21)ggG>ggA		zinc finger protein 80							101.0	102.0	101.0					3																	113955901		2203	4300	6503	SO:0001819	synonymous_variant	7634					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:113955901C>T	X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"""Zinc fingers, C2H2-type"""	13155	protein-coding gene	gene with protein product		194553	"""zinc finger protein 80 (pT17)"""			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.21G>A	3.37:g.113955901C>T							p.G7G	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN			1	524	-		Lung NSC(201;0.0233)|all_neural(597;0.0837)	7					Q6NSW4|Q6NT14	Silent	SNP	ENST00000482457.2	37	c.21G>A	CCDS2979.1																																																																																				0.527	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	NM_007136		9	94	0	0	0	1	0	9	94				
NFE2L2	4780	broad.mit.edu	37	2	178095660	178095660	+	Silent	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:178095660G>C	ENST00000397062.3	-	5	2225	c.1671C>G	c.(1669-1671)ctC>ctG	p.L557L	NFE2L2_ENST00000397063.4_Silent_p.L541L|NFE2L2_ENST00000446151.2_Silent_p.L534L|NFE2L2_ENST00000464747.1_Silent_p.L541L	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	557	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ATAAGGTGCTGAGTTGTTTTT	0.363			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												ENST00000397062.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			"""NSCLC, HNSCC"""		0				central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158						c.(1669-1671)ctC>ctG		nuclear factor, erythroid 2-like 2							213.0	191.0	198.0					2																	178095660		1856	4087	5943	SO:0001819	synonymous_variant	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178095660G>C		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.1671C>G	2.37:g.178095660G>C		HNSCC(56;0.16)				NFE2L2_ENST00000464747.1_Silent_p.L541L|NFE2L2_ENST00000446151.2_Silent_p.L534L|NFE2L2_ENST00000397063.4_Silent_p.L541L	p.L557L	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		5	2225	-			557					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Silent	SNP	ENST00000397062.3	37	c.1671C>G	CCDS42782.1																																																																																				0.363	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		8	93	0	0	0	1	0	8	93				
TCF20	6942	broad.mit.edu	37	22	42607449	42607449	+	Nonsense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:42607449G>C	ENST00000359486.3	-	1	3999	c.3863C>G	c.(3862-3864)tCa>tGa	p.S1288*	TCF20_ENST00000404876.1_5'Flank|TCF20_ENST00000335626.4_Nonsense_Mutation_p.S1288*	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1288					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCCTTCTTTTGATGAGTGAAG	0.438																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(3862-3864)tCa>tGa		transcription factor 20 (AR1)							212.0	190.0	198.0					22																	42607449		2203	4300	6503	SO:0001587	stop_gained	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42607449G>C	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.3863C>G	22.37:g.42607449G>C	ENSP00000352463:p.Ser1288*					TCF20_ENST00000335626.4_Nonsense_Mutation_p.S1288*	p.S1288*	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	3999	-			1288					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Nonsense_Mutation	SNP	ENST00000359486.3	37	c.3863C>G	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	G	41	8.895868	0.98994	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	.	.	.	5.53	4.52	0.55395	.	0.603375	0.15623	N	0.252773	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	0.2822	10.499	0.44794	0.1461:0.0:0.8539:0.0	.	.	.	.	X	1288	.	ENSP00000335561:S1288X	S	-	2	0	TCF20	40937393	0.952000	0.32445	0.084000	0.20598	0.899000	0.52679	4.660000	0.61511	1.576000	0.49790	0.655000	0.94253	TCA		0.438	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		16	86	0	0	0	1	0	16	86				
CCDC92	80212	broad.mit.edu	37	12	124422324	124422324	+	Missense_Mutation	SNP	C	C	T	rs200385849		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:124422324C>T	ENST00000238156.3	-	5	631	c.277G>A	c.(277-279)Gcc>Acc	p.A93T	RP11-380L11.3_ENST00000602292.1_RNA|DNAH10OS_ENST00000514254.2_5'Flank|CCDC92_ENST00000545135.1_Missense_Mutation_p.A76T|CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000545891.1_Missense_Mutation_p.A76T	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	93						centriole (GO:0005814)				large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		TTCAGTTGGGCTTCCAGCTCT	0.443													C|||	1	0.000199681	0.0	0.0	5008	,	,		21507	0.0		0.001	False		,,,				2504	0.0					ENST00000545135.1																			0				large_intestine(5)|lung(2)	7						c.(226-228)Gcc>Acc		coiled-coil domain containing 92							196.0	186.0	190.0					12																	124422324		2203	4300	6503	SO:0001583	missense	80212							g.chr12:124422324C>T	AK026124	CCDS9256.1	12q24.31	2011-09-02			ENSG00000119242	ENSG00000119242			29563	protein-coding gene	gene with protein product	"""limkain beta 2"""					12477932	Standard	NM_025140		Approved	FLJ22471	uc001ufw.1	Q53HC0	OTTHUMG00000168725	ENST00000238156.3:c.277G>A	12.37:g.124422324C>T	ENSP00000238156:p.Ala93Thr					CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000545891.1_Missense_Mutation_p.A76T|CCDC92_ENST00000238156.3_Missense_Mutation_p.A93T	p.A76T			Q53HC0	CCD92_HUMAN		Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)	3	3522	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		93					B3KNQ0|Q9H697	Missense_Mutation	SNP	ENST00000238156.3	37	c.226G>A	CCDS9256.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.88	3.245783	0.59103	.	.	ENSG00000119242	ENST00000238156;ENST00000545135;ENST00000545891;ENST00000539761;ENST00000535556;ENST00000539551	T;T;T;T;T;T	0.48522	1.84;1.85;1.85;0.86;0.9;0.81	5.17	4.29	0.51040	.	0.060895	0.64402	D	0.000001	T	0.49558	0.1564	M	0.80028	2.48	0.50813	D	0.999895	B	0.27351	0.176	B	0.23419	0.046	T	0.49418	-0.8942	10	0.30078	T	0.28	-15.1805	13.9509	0.64116	0.0:0.9266:0.0:0.0734	.	93	Q53HC0	CCD92_HUMAN	T	93;76;76;93;76;93	ENSP00000238156:A93T;ENSP00000439526:A76T;ENSP00000440024:A76T;ENSP00000439441:A93T;ENSP00000438281:A76T;ENSP00000442369:A93T	ENSP00000238156:A93T	A	-	1	0	CCDC92	122988277	1.000000	0.71417	0.106000	0.21319	0.005000	0.04900	4.017000	0.57167	1.310000	0.45006	0.555000	0.69702	GCC		0.443	CCDC92-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400780.2	NM_025140		10	156	0	0	0	1	0	10	156				
SLITRK5	26050	broad.mit.edu	37	13	88328522	88328522	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr13:88328522G>C	ENST00000325089.6	+	2	1098	c.879G>C	c.(877-879)gaG>gaC	p.E293D	SLITRK5_ENST00000400028.3_Missense_Mutation_p.E52D	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	293					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CTGACTACGAGATGAGGCCGC	0.537																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(877-879)gaG>gaC		SLIT and NTRK-like family, member 5							70.0	74.0	73.0					13																	88328522		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88328522G>C	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.879G>C	13.37:g.88328522G>C	ENSP00000366283:p.Glu293Asp					SLITRK5_ENST00000400028.3_Missense_Mutation_p.E52D	p.E293D	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	1098	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		293					B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.879G>C	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	G	5.654	0.305297	0.10678	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.47177	0.85;0.85	5.76	4.8	0.61643	.	0.324591	0.32328	N	0.006244	T	0.33789	0.0875	L	0.38692	1.165	0.38367	D	0.944774	B;B	0.25563	0.129;0.048	B;B	0.20184	0.028;0.028	T	0.18398	-1.0338	9	.	.	.	-19.7588	9.302	0.37851	0.1282:0.0:0.8718:0.0	.	52;293	B4DSH5;O94991	.;SLIK5_HUMAN	D	293;52	ENSP00000366283:E293D;ENSP00000442244:E52D	.	E	+	3	2	SLITRK5	87126523	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.866000	0.39489	2.724000	0.93272	0.491000	0.48974	GAG		0.537	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			15	95	0	0	0	1	0	15	95				
TMEM123	114908	broad.mit.edu	37	11	102272784	102272784	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:102272784G>T	ENST00000398136.2	-	3	731	c.311C>A	c.(310-312)tCa>tAa	p.S104*	TMEM123_ENST00000361236.3_Nonsense_Mutation_p.S85*|TMEM123_ENST00000525577.1_5'UTR|TMEM123_ENST00000532161.1_Nonsense_Mutation_p.S16*	NM_052932.2	NP_443164.2	Q8N131	PORIM_HUMAN	transmembrane protein 123	104	Thr-rich.				oncosis (GO:0070267)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(3)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)		CATATTTGTTGAGACCATCCC	0.438																																						ENST00000398136.2																			0				breast(3)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9						c.(310-312)tCa>tAa		transmembrane protein 123							477.0	439.0	451.0					11																	102272784		2007	4170	6177	SO:0001587	stop_gained	114908				oncosis	external side of plasma membrane|integral to membrane	receptor activity	g.chr11:102272784G>T	AL050161	CCDS41702.1	11q22.1	2014-01-02			ENSG00000152558	ENSG00000152558			30138	protein-coding gene	gene with protein product	"""pro oncosis receptor inducing membrane injury gene"""	606356				11481458, 24318988	Standard	NM_052932		Approved	PORIMIN, KCT3	uc001pha.3	Q8N131	OTTHUMG00000167326	ENST00000398136.2:c.311C>A	11.37:g.102272784G>T	ENSP00000381204:p.Ser104*					TMEM123_ENST00000532161.1_Nonsense_Mutation_p.S16*|TMEM123_ENST00000525577.1_5'UTR|TMEM123_ENST00000361236.3_Nonsense_Mutation_p.S85*	p.S104*	NM_052932.2	NP_443164.2	Q8N131	PORIM_HUMAN	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)	3	731	-	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	104			Thr-rich.		Q8IWS2|Q96QV2	Nonsense_Mutation	SNP	ENST00000398136.2	37	c.311C>A	CCDS41702.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.168806	0.38315	.	.	ENSG00000152558	ENST00000361236;ENST00000398136;ENST00000532161;ENST00000528969;ENST00000531103	.	.	.	4.51	3.57	0.40892	.	1.964030	0.02441	N	0.084565	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.732	9.2202	0.37373	0.1055:0.0:0.8945:0.0	.	.	.	.	X	85;104;16;16;16	.	ENSP00000355285:S85X	S	-	2	0	TMEM123	101777994	0.361000	0.24972	0.004000	0.12327	0.013000	0.08279	1.853000	0.39358	1.008000	0.39264	0.563000	0.77884	TCA		0.438	TMEM123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394178.1	NM_052932		19	180	1	0	2.94398e-08	1	3.16206e-08	19	180				
ESRP1	54845	broad.mit.edu	37	8	95676969	95676969	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr8:95676969G>A	ENST00000433389.2	+	7	879	c.689G>A	c.(688-690)cGa>cAa	p.R230Q	ESRP1_ENST00000358397.5_Missense_Mutation_p.R230Q|ESRP1_ENST00000454170.2_Missense_Mutation_p.R230Q|ESRP1_ENST00000423620.2_Missense_Mutation_p.R230Q	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	230	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GTCAGGGCACGAGGTTTACCA	0.383																																						ENST00000433389.2																		ESRP1/RAF1(4)	0				NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						c.(688-690)cGa>cAa		epithelial splicing regulatory protein 1							137.0	127.0	130.0					8																	95676969		1924	4146	6070	SO:0001583	missense	54845				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	g.chr8:95676969G>A	AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"""RNA binding motif (RRM) containing"""	25966	protein-coding gene	gene with protein product		612959	"""RNA binding motif protein 35A"""	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.689G>A	8.37:g.95676969G>A	ENSP00000405738:p.Arg230Gln					ESRP1_ENST00000358397.5_Missense_Mutation_p.R230Q|ESRP1_ENST00000454170.2_Missense_Mutation_p.R230Q|ESRP1_ENST00000423620.2_Missense_Mutation_p.R230Q	p.R230Q	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN			7	879	+			230			RRM 1.		A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP	ENST00000433389.2	37	c.689G>A	CCDS47897.1	.	.	.	.	.	.	.	.	.	.	G	36	5.754248	0.96890	.	.	ENSG00000104413	ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170;ENST00000522756;ENST00000517610	T;T;T;T;T;T	0.09723	2.95;3.31;3.31;2.95;2.95;3.31	5.68	5.68	0.88126	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.40171	0.1106	M	0.83483	2.645	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	T	0.28138	-1.0053	10	0.87932	D	0	-9.7887	19.798	0.96494	0.0:0.0:1.0:0.0	.	230;230;230;230;230;230	D7PBN3;Q6NXG1-4;Q6NXG1-2;E9PB47;Q6NXG1-3;Q6NXG1	.;.;.;.;.;ESRP1_HUMAN	Q	230;230;230;230;13;89	ENSP00000407349:R230Q;ENSP00000405738:R230Q;ENSP00000351168:R230Q;ENSP00000402766:R230Q;ENSP00000428490:R13Q;ENSP00000429125:R89Q	ENSP00000351168:R230Q	R	+	2	0	ESRP1	95746145	1.000000	0.71417	0.992000	0.48379	0.987000	0.75469	9.869000	0.99810	2.677000	0.91161	0.563000	0.77884	CGA		0.383	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379326.1	NM_017697		8	50	0	0	0	1	0	8	50				
YARS	8565	broad.mit.edu	37	1	33245077	33245077	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:33245077G>C	ENST00000373477.4	-	12	2290	c.1382C>G	c.(1381-1383)tCt>tGt	p.S461C	YARS_ENST00000469100.1_5'UTR	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	461	tRNA-binding. {ECO:0000255|PROSITE- ProRule:PRU00209}.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)|tyrosyl-tRNA aminoacylation (GO:0006437)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|interleukin-8 receptor binding (GO:0005153)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)|tRNA binding (GO:0000049)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	ACCAGGAGCAGAGCCTGCCGG	0.527																																						ENST00000373477.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15						c.(1381-1383)tCt>tGt		tyrosyl-tRNA synthetase	L-Tyrosine(DB00135)						92.0	90.0	91.0					1																	33245077		2203	4300	6503	SO:0001583	missense	8565				apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity	g.chr1:33245077G>C	U89436	CCDS368.1	1p35.1	2014-09-17			ENSG00000134684	ENSG00000134684	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	12840	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 1, cytoplasmic"""	603623				8552597, 9162081	Standard	NM_003680		Approved	YTS, YRS, tyrRS	uc001bvy.1	P54577	OTTHUMG00000003933	ENST00000373477.4:c.1382C>G	1.37:g.33245077G>C	ENSP00000362576:p.Ser461Cys					YARS_ENST00000469100.1_5'UTR	p.S461C	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN			12	2290	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	461			tRNA-binding.		B3KWK4|D3DPQ4|O43276|Q53EN1	Missense_Mutation	SNP	ENST00000373477.4	37	c.1382C>G	CCDS368.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271188	0.59649	.	.	ENSG00000134684	ENST00000373477	T	0.74002	-0.8	5.65	5.65	0.86999	Nucleic acid-binding, OB-fold-like (1);tRNA-binding domain (2);Nucleic acid-binding, OB-fold (1);	0.048199	0.85682	D	0.000000	T	0.70290	0.3207	L	0.49455	1.56	0.80722	D	1	B	0.23735	0.09	B	0.20955	0.032	T	0.65747	-0.6093	10	0.42905	T	0.14	-14.8126	16.6009	0.84815	0.0:0.1384:0.8616:0.0	.	461	P54577	SYYC_HUMAN	C	461	ENSP00000362576:S461C	ENSP00000362576:S461C	S	-	2	0	YARS	33017664	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.814000	0.86154	2.835000	0.97688	0.650000	0.86243	TCT		0.527	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011225.1	NM_003680		8	66	0	0	0	1	0	8	66				
ADAMTS16	170690	broad.mit.edu	37	5	5306709	5306709	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:5306709G>A	ENST00000274181.7	+	21	3417	c.3279G>A	c.(3277-3279)aaG>aaA	p.K1093K		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1093	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TGGCCTCAAAGAAGTGCTCAC	0.522																																						ENST00000274181.7																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(3277-3279)aaG>aaA		ADAM metallopeptidase with thrombospondin type 1 motif, 16							69.0	70.0	70.0					5																	5306709		1934	4132	6066	SO:0001819	synonymous_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5306709G>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.3279G>A	5.37:g.5306709G>A							p.K1093K	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			21	3417	+			1093			TSP type-1 5.		C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	c.3279G>A	CCDS43299.1																																																																																				0.522	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		8	52	0	0	0	1	0	8	52				
UBA2	10054	broad.mit.edu	37	19	34960012	34960012	+	Silent	SNP	C	C	A	rs545176184		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:34960012C>A	ENST00000246548.4	+	17	1879	c.1809C>A	c.(1807-1809)gtC>gtA	p.V603V	UBA2_ENST00000592791.1_Silent_p.V129V|UBA2_ENST00000588585.1_3'UTR|UBA2_ENST00000439527.2_Silent_p.V507V	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	603					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			ATGCCGACGTCAGTGAAGAAG	0.393																																						ENST00000439527.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(1519-1521)gtC>gtA		ubiquitin-like modifier activating enzyme 2							42.0	41.0	41.0					19																	34960012		2203	4300	6503	SO:0001819	synonymous_variant	10054				protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity	g.chr19:34960012C>A	BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"""Ubiquitin-like modifier activating enzymes"""	30661	protein-coding gene	gene with protein product	"""UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"""	613295	"""SUMO1 activating enzyme subunit 2"""	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.1809C>A	19.37:g.34960012C>A						UBA2_ENST00000246548.4_Silent_p.V603V|UBA2_ENST00000588585.1_3'UTR|UBA2_ENST00000592791.1_Silent_p.V129V	p.V507V			Q9UBT2	SAE2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)		17	2019	+	Esophageal squamous(110;0.162)		603					B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Silent	SNP	ENST00000246548.4	37	c.1521C>A	CCDS12439.1																																																																																				0.393	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3	NM_005499		4	35	1	0	1	1	1	4	35				
KIAA1161	57462	broad.mit.edu	37	9	34372195	34372195	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr9:34372195C>G	ENST00000297625.7	-	2	870	c.645G>C	c.(643-645)tgG>tgC	p.W215C		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	249					carbohydrate metabolic process (GO:0005975)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|skeletal muscle fiber development (GO:0048741)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CCGTGCTGTTCCAGCCCAGGT	0.687																																						ENST00000297625.7																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12						c.(643-645)tgG>tgC		KIAA1161							14.0	18.0	16.0					9																	34372195		2032	4168	6200	SO:0001583	missense	57462				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr9:34372195C>G	AB032987		9p11.2	2009-11-06			ENSG00000164976	ENSG00000164976			19918	protein-coding gene	gene with protein product						10574461	Standard	XM_006716808		Approved	NET37	uc003zue.4	Q6NSJ0	OTTHUMG00000019816	ENST00000297625.7:c.645G>C	9.37:g.34372195C>G	ENSP00000297625:p.Trp215Cys						p.W215C	NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)	2	870	-			249					Q5T587|Q5T588|Q9ULQ9	Missense_Mutation	SNP	ENST00000297625.7	37	c.645G>C		.	.	.	.	.	.	.	.	.	.	C	15.01	2.707516	0.48412	.	.	ENSG00000164976	ENST00000297625;ENST00000379142	T;T	0.70045	-0.45;-0.45	6.08	6.08	0.98989	.	0.115496	0.64402	D	0.000005	T	0.70701	0.3254	M	0.65975	2.015	0.80722	D	1	D	0.54601	0.967	P	0.46718	0.525	T	0.74169	-0.3752	10	0.66056	D	0.02	-11.3286	15.6106	0.76713	0.0:0.8622:0.1378:0.0	.	249	Q6NSJ0	K1161_HUMAN	C	215;117	ENSP00000297625:W215C;ENSP00000368437:W117C	ENSP00000297625:W215C	W	-	3	0	KIAA1161	34362195	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	4.053000	0.57427	2.894000	0.99253	0.655000	0.94253	TGG		0.687	KIAA1161-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000052158.1	XM_351807		6	17	0	0	0	1	0	6	17				
DUOX1	53905	broad.mit.edu	37	15	45455856	45455856	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:45455856G>A	ENST00000321429.4	+	33	4782	c.4375G>A	c.(4375-4377)Gag>Aag	p.E1459K	DUOX1_ENST00000561166.1_Missense_Mutation_p.E1105K|DUOX1_ENST00000389037.3_Missense_Mutation_p.E1459K|CTD-2651B20.1_ENST00000558039.1_lincRNA	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1459					cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CCAGCTGGCTGAGAAGTTCGA	0.577											OREG0023103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000321429.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57						c.(4375-4377)Gag>Aag		dual oxidase 1							141.0	127.0	132.0					15																	45455856		2198	4298	6496	SO:0001583	missense	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45455856G>A	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.4375G>A	15.37:g.45455856G>A	ENSP00000317997:p.Glu1459Lys		OREG0023103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	931	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000561166.1_Missense_Mutation_p.E1105K|DUOX1_ENST00000389037.3_Missense_Mutation_p.E1459K	p.E1459K	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	33	4782	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1459					A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	c.4375G>A	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	G	33	5.246756	0.95305	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.94931	-3.56;-3.56	4.36	4.36	0.52297	Ferric reductase, NAD binding (1);	0.000000	0.85682	D	0.000000	D	0.95611	0.8573	L	0.48174	1.505	0.80722	D	1	D	0.67145	0.996	D	0.70016	0.967	D	0.95948	0.8952	10	0.72032	D	0.01	-26.9976	14.4383	0.67298	0.0:0.0:1.0:0.0	.	1459	Q9NRD9	DUOX1_HUMAN	K	1459	ENSP00000317997:E1459K;ENSP00000373689:E1459K	ENSP00000317997:E1459K	E	+	1	0	DUOX1	43243148	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.661000	0.83786	2.243000	0.73865	0.491000	0.48974	GAG		0.577	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1	NM_017434		11	149	0	0	0	1	0	11	149				
STK10	6793	broad.mit.edu	37	5	171533727	171533727	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:171533727C>G	ENST00000176763.5	-	6	1028	c.685G>C	c.(685-687)Gag>Cag	p.E229Q		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	229	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGGCCATCTCAATCAGCGTG	0.597											OREG0017039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000176763.5																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.(685-687)Gag>Cag		serine/threonine kinase 10							120.0	108.0	112.0					5																	171533727		2203	4300	6503	SO:0001583	missense	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171533727C>G	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.685G>C	5.37:g.171533727C>G	ENSP00000176763:p.Glu229Gln		OREG0017039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1893		p.E229Q	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		6	1028	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	229			Protein kinase.		A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	ENST00000176763.5	37	c.685G>C	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.381784	0.82792	.	.	ENSG00000072786	ENST00000176763;ENST00000545839	T	0.70045	-0.45	4.86	3.99	0.46301	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.75874	0.3909	L	0.54908	1.71	0.80722	D	1	D	0.56035	0.974	D	0.67900	0.954	T	0.77993	-0.2378	10	0.87932	D	0	.	12.2466	0.54574	0.1711:0.8289:0.0:0.0	.	229	O94804	STK10_HUMAN	Q	229	ENSP00000176763:E229Q	ENSP00000176763:E229Q	E	-	1	0	STK10	171466332	1.000000	0.71417	0.939000	0.37840	0.883000	0.51084	7.645000	0.83430	1.265000	0.44215	-0.181000	0.13052	GAG		0.597	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		13	63	0	0	0	1	0	13	63				
HHIP	64399	broad.mit.edu	37	4	145567979	145567979	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:145567979G>C	ENST00000296575.3	+	1	807	c.152G>C	c.(151-153)aGa>aCa	p.R51T	HHIP-AS1_ENST00000503066.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.R51T|HHIP-AS1_ENST00000512359.1_RNA|HHIP-AS1_ENST00000508269.1_RNA	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	51	Arg-rich.				carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CTGAAAAGGAGAGACAGGAGG	0.582																																						ENST00000296575.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(151-153)aGa>aCa		hedgehog interacting protein							73.0	80.0	77.0					4																	145567979		2203	4300	6503	SO:0001583	missense	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145567979G>C	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"""hedgehog-interacting protein"""			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.152G>C	4.37:g.145567979G>C	ENSP00000296575:p.Arg51Thr					HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.R51T	p.R51T	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	1	807	+	all_hematologic(180;0.151)		51			Arg-rich.		Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	c.152G>C	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.576663	0.45902	.	.	ENSG00000164161	ENST00000296575;ENST00000434550	T;T	0.76968	-1.06;-1.06	5.11	4.26	0.50523	Folate receptor-like (1);	0.048133	0.85682	D	0.000000	T	0.76884	0.4050	M	0.62723	1.935	0.45118	D	0.998132	P;P	0.41848	0.458;0.763	B;B	0.42282	0.328;0.382	T	0.78465	-0.2193	10	0.59425	D	0.04	-15.7277	13.6156	0.62105	0.0749:0.0:0.9251:0.0	.	51;51	Q96QV1;Q96QV1-2	HHIP_HUMAN;.	T	51	ENSP00000296575:R51T;ENSP00000408587:R51T	ENSP00000296575:R51T	R	+	2	0	HHIP	145787429	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.829000	0.62737	1.150000	0.42419	0.650000	0.86243	AGA		0.582	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			6	43	0	0	0	1	0	6	43				
OR4K5	79317	broad.mit.edu	37	14	20389101	20389101	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:20389101G>T	ENST00000315915.4	+	1	361	c.336G>T	c.(334-336)atG>atT	p.M112I		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GAGGGGAGATGGTGCTACTTG	0.428																																						ENST00000315915.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(334-336)atG>atT		olfactory receptor, family 4, subfamily K, member 5							213.0	220.0	218.0					14																	20389101		2203	4300	6503	SO:0001583	missense	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389101G>T	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.336G>T	14.37:g.20389101G>T	ENSP00000319511:p.Met112Ile						p.M112I	NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	361	+	all_cancers(95;0.00108)		112					Q6IFA7	Missense_Mutation	SNP	ENST00000315915.4	37	c.336G>T	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	12.47	1.949128	0.34377	.	.	ENSG00000176281	ENST00000315915	T	0.00388	7.59	4.41	4.41	0.53225	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000008	T	0.00210	0.0006	N	0.16166	0.38	0.28957	N	0.890073	B	0.27910	0.193	B	0.23574	0.047	T	0.51004	-0.8760	10	0.22706	T	0.39	.	14.5138	0.67807	0.0:0.0:1.0:0.0	.	112	Q8NGD3	OR4K5_HUMAN	I	112	ENSP00000319511:M112I	ENSP00000319511:M112I	M	+	3	0	OR4K5	19458941	0.000000	0.05858	0.983000	0.44433	0.931000	0.56810	0.085000	0.14912	2.269000	0.75478	0.655000	0.94253	ATG		0.428	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		11	252	1	0	7.03913e-09	1	7.57926e-09	11	252				
ORC3	23595	broad.mit.edu	37	6	88317395	88317395	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:88317395G>C	ENST00000392844.3	+	6	480	c.432G>C	c.(430-432)atG>atC	p.M144I	ORC3_ENST00000257789.4_Missense_Mutation_p.M144I|ORC3_ENST00000478028.1_3'UTR|ORC3_ENST00000546266.1_Start_Codon_SNP_p.M1I|ORC3_ENST00000417380.2_Missense_Mutation_p.M91I	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	144					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|neural precursor cell proliferation (GO:0061351)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA replication origin binding (GO:0003688)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						CCACAGATATGAAACATTTTT	0.338																																						ENST00000392844.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						c.(430-432)atG>atC		origin recognition complex, subunit 3							81.0	79.0	80.0					6																	88317395		2202	4300	6502	SO:0001583	missense	23595				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	g.chr6:88317395G>C	AF093535	CCDS5012.1, CCDS43486.1, CCDS56440.1	6q	2010-10-12	2010-10-12	2010-10-12	ENSG00000135336	ENSG00000135336			8489	protein-coding gene	gene with protein product		604972	"""origin recognition complex, subunit 3 (yeast homolog)-like"", ""origin recognition complex, subunit 3-like (yeast)"", ""origin recognition complex, subunit 3 honolog (yeast)"""	ORC3L		9829972, 10402192	Standard	NM_181837		Approved	IMAGE50150, LATHEO	uc003pmg.3	Q9UBD5	OTTHUMG00000015179	ENST00000392844.3:c.432G>C	6.37:g.88317395G>C	ENSP00000376586:p.Met144Ile					ORC3_ENST00000478028.1_3'UTR|ORC3_ENST00000417380.2_Missense_Mutation_p.M91I|ORC3_ENST00000257789.4_Missense_Mutation_p.M144I|ORC3_ENST00000546266.1_Start_Codon_SNP_p.M1I	p.M144I	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN			6	480	+			144					A2A2T5|B4E025|Q13565|Q53GY6|Q5T159|Q6IUY7|Q86TN5|Q9UG44|Q9UNT6	Missense_Mutation	SNP	ENST00000392844.3	37	c.432G>C	CCDS43486.1	.	.	.	.	.	.	.	.	.	.	G	0.181	-1.061821	0.01950	.	.	ENSG00000135336	ENST00000392844;ENST00000257789;ENST00000546266;ENST00000417380	T;T;T;T	0.12465	2.68;2.68;2.68;2.68	5.82	-4.32	0.03688	.	0.626694	0.18700	N	0.133605	T	0.01124	0.0037	N	0.02721	-0.515	0.58432	D	0.999993	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.003;0.001;0.001	T	0.41466	-0.9507	10	0.08599	T	0.76	-3.3003	8.9	0.35487	0.6081:0.0:0.2246:0.1673	.	144;144;144;144	B7ZAI3;B7Z8A5;Q9UBD5;Q9UBD5-2	.;.;ORC3_HUMAN;.	I	144;144;1;91	ENSP00000376586:M144I;ENSP00000257789:M144I;ENSP00000444695:M1I;ENSP00000390176:M91I	ENSP00000257789:M144I	M	+	3	0	ORC3	88374114	0.602000	0.26916	0.883000	0.34634	0.224000	0.24922	-0.408000	0.07169	-0.818000	0.04329	-0.982000	0.02568	ATG		0.338	ORC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041452.2			4	31	0	0	0	1	0	4	31				
SORCS1	114815	broad.mit.edu	37	10	108412181	108412181	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:108412181C>A	ENST00000263054.6	-	18	2441	c.2434G>T	c.(2434-2436)Gaa>Taa	p.E812*	SORCS1_ENST00000369698.1_Nonsense_Mutation_p.E347*|SORCS1_ENST00000344440.6_Nonsense_Mutation_p.E812*	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	812	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TGTCCTTGTTCCGCTGTCAGC	0.522																																						ENST00000263054.6																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(2434-2436)Gaa>Taa		sortilin-related VPS10 domain containing receptor 1							130.0	115.0	120.0					10																	108412181		2203	4300	6503	SO:0001587	stop_gained	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108412181C>A	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2434G>T	10.37:g.108412181C>A	ENSP00000263054:p.Glu812*					SORCS1_ENST00000369698.1_Nonsense_Mutation_p.E347*|SORCS1_ENST00000344440.6_Nonsense_Mutation_p.E812*	p.E812*	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	18	2441	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	812			PKD.		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Nonsense_Mutation	SNP	ENST00000263054.6	37	c.2434G>T	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	37	6.313100	0.97467	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	.	.	.	5.74	5.74	0.90152	.	0.140067	0.49916	D	0.000138	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-22.9938	16.8676	0.86033	0.0:0.872:0.128:0.0	.	.	.	.	X	347;812;812	.	.	E	-	1	0	SORCS1	108402171	0.651000	0.27340	0.106000	0.21319	0.312000	0.27988	2.306000	0.43673	2.709000	0.92574	0.655000	0.94253	GAA		0.522	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		10	58	1	0	4.68919e-08	1	5.02413e-08	10	58				
ABCA12	26154	broad.mit.edu	37	2	215852431	215852431	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:215852431C>G	ENST00000272895.7	-	27	4135	c.3916G>C	c.(3916-3918)Gag>Cag	p.E1306Q	ABCA12_ENST00000389661.4_Missense_Mutation_p.E988Q	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1306					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTGCTCTTCTCAGGCTTCACC	0.458																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(3916-3918)Gag>Cag		ATP-binding cassette, sub-family A (ABC1), member 12							129.0	107.0	114.0					2																	215852431		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215852431C>G	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.3916G>C	2.37:g.215852431C>G	ENSP00000272895:p.Glu1306Gln					ABCA12_ENST00000389661.4_Missense_Mutation_p.E988Q	p.E1306Q	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	27	4135	-		Renal(323;0.127)	1306					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.3916G>C	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	c	16.10	3.028745	0.54790	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.89123	-2.47;-2.46	5.26	4.38	0.52667	.	1.042900	0.07518	N	0.910077	D	0.88908	0.6565	M	0.63843	1.955	0.80722	D	1	D;P	0.54772	0.968;0.713	P;B	0.47981	0.563;0.397	T	0.80011	-0.1561	10	0.18710	T	0.47	.	9.5698	0.39420	0.0:0.7819:0.1437:0.0744	.	1306;988	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	Q	1306;988	ENSP00000272895:E1306Q;ENSP00000374312:E988Q	ENSP00000272895:E1306Q	E	-	1	0	ABCA12	215560676	0.998000	0.40836	0.998000	0.56505	0.967000	0.64934	3.729000	0.54999	1.236000	0.43740	-0.217000	0.12591	GAG		0.458	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		9	27	0	0	0	1	0	9	27				
XXbac-BPG308J9.3	0	broad.mit.edu	37	6	29231625	29231625	+	lincRNA	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:29231625G>C	ENST00000441381.1	+	0	96																											ACCAACATCTGTGGGACTATA	0.403																																						ENST00000441381.1																			0																				166.0	155.0	158.0					6																	29231625		1876	4111	5987			0							g.chr6:29231625G>C																													6.37:g.29231625G>C														0	96	+									RNA	SNP	ENST00000441381.1	37																																																																																						0.403	XXbac-BPG308J9.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000192829.1			37	178	0	0	0	1	0	37	178				
GABRA4	2557	broad.mit.edu	37	4	46930400	46930400	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:46930400G>C	ENST00000264318.3	-	9	2489	c.1507C>G	c.(1507-1509)Cct>Gct	p.P503A		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	503					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	GATGGAGGAGGAGTAGCTGAC	0.463																																					Ovarian(6;283 369 8234 12290 33402)	ENST00000264318.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1507-1509)Cct>Gct		gamma-aminobutyric acid (GABA) A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						163.0	153.0	157.0					4																	46930400		2203	4300	6503	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46930400G>C		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1507C>G	4.37:g.46930400G>C	ENSP00000264318:p.Pro503Ala						p.P503A	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN			9	2489	-			503					Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.1507C>G	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	G	6.378	0.437772	0.12104	.	.	ENSG00000109158	ENST00000264318	D	0.85171	-1.95	5.71	-10.4	0.00318	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.470380	0.03665	N	0.243179	T	0.69522	0.3120	L	0.27053	0.805	0.09310	N	1	B	0.12013	0.005	B	0.18871	0.023	T	0.58973	-0.7541	10	0.06099	T	0.92	.	10.2491	0.43358	0.0:0.4538:0.3232:0.223	.	503	P48169	GBRA4_HUMAN	A	503	ENSP00000264318:P503A	ENSP00000264318:P503A	P	-	1	0	GABRA4	46625157	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.010000	0.01454	-2.152000	0.00794	-1.107000	0.02091	CCT		0.463	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			8	114	0	0	0	1	0	8	114				
VSX2	338917	broad.mit.edu	37	14	74707950	74707950	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:74707950C>T	ENST00000261980.2	+	2	526	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W		NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN	visual system homeobox 2	146					cell fate commitment (GO:0045165)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		GACCAAGAAACGGAAGAAGCG	0.587																																						ENST00000261980.2																			0				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(436-438)Cgg>Tgg		visual system homeobox 2							76.0	80.0	79.0					14																	74707950		2203	4300	6503	SO:0001583	missense	338917				multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:74707950C>T	AC005519	CCDS9827.1	14q24.3	2011-06-20	2007-08-21	2007-08-21		ENSG00000119614		"""Homeoboxes / PRD class"""	1975	protein-coding gene	gene with protein product		142993	"""C elegans ceh-10 homeo domain-containing homolog"", ""ceh-10 homeo domain containing homolog (C. elegans)"", ""ceh-10 homeodomain containing homolog (C. elegans)"""	HOX10, CHX10		1973146	Standard	NM_182894		Approved	RET1	uc001xpq.3	P58304		ENST00000261980.2:c.436C>T	14.37:g.74707950C>T	ENSP00000261980:p.Arg146Trp						p.R146W	NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00154)	2	526	+			146					A1A4X6	Missense_Mutation	SNP	ENST00000261980.2	37	c.436C>T	CCDS9827.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078786	0.76528	.	.	ENSG00000119614	ENST00000261980	D	0.96011	-3.88	4.56	3.64	0.41730	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.95912	0.8669	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96137	0.9097	10	0.87932	D	0	.	13.8211	0.63320	0.1543:0.8457:0.0:0.0	.	146	P58304	VSX2_HUMAN	W	146	ENSP00000261980:R146W	ENSP00000261980:R146W	R	+	1	2	VSX2	73777703	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.376000	0.44292	1.106000	0.41623	0.462000	0.41574	CGG		0.587	VSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412323.1	NM_182894		7	50	0	0	0	1	0	7	50				
RNF43	54894	broad.mit.edu	37	17	56492817	56492817	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:56492817G>A	ENST00000584437.1	-	1	2077	c.122C>T	c.(121-123)tCa>tTa	p.S41L	RNF43_ENST00000583753.1_Missense_Mutation_p.S41L|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Intron|RNF43_ENST00000500597.2_Missense_Mutation_p.S41L|RNF43_ENST00000580014.1_5'Flank|RNF43_ENST00000407977.2_Missense_Mutation_p.S41L|RNF43_ENST00000577716.1_Missense_Mutation_p.S41L			Q68DV7	RNF43_HUMAN	ring finger protein 43	41					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S41*(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGTTCTGCTGATCTTTCAGA	0.537																																						ENST00000584437.1																			1	Substitution - Nonsense(1)	p.S41*(1)	pancreas(1)	NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(121-123)tCa>tTa		ring finger protein 43							91.0	83.0	86.0					17																	56492817		2203	4300	6503	SO:0001583	missense	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56492817G>A		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.122C>T	17.37:g.56492817G>A	ENSP00000463069:p.Ser41Leu					BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000583753.1_Missense_Mutation_p.S41L|RNF43_ENST00000581868.1_Intron|RNF43_ENST00000577716.1_Missense_Mutation_p.S41L|RNF43_ENST00000500597.2_Missense_Mutation_p.S41L|RNF43_ENST00000407977.2_Missense_Mutation_p.S41L	p.S41L			Q68DV7	RNF43_HUMAN			1	2077	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		41					A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	c.122C>T	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.136378	0.56936	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.12255	3.23;2.7	5.49	5.49	0.81192	.	0.148709	0.31709	N	0.007188	T	0.07234	0.0183	N	0.03608	-0.345	0.36410	D	0.863684	P;P	0.38827	0.649;0.518	B;B	0.36666	0.23;0.115	T	0.45293	-0.9271	10	0.25106	T	0.35	-22.4765	16.8952	0.86098	0.0:0.0:1.0:0.0	.	41;41	Q68DV7-2;Q68DV7	.;RNF43_HUMAN	L	41	ENSP00000385328:S41L;ENSP00000441969:S41L	ENSP00000385328:S41L	S	-	2	0	RNF43	53847816	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.252000	0.58785	2.734000	0.93682	0.655000	0.94253	TCA		0.537	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		6	75	0	0	0	1	0	6	75				
CRY1	1407	broad.mit.edu	37	12	107398927	107398927	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:107398927C>G	ENST00000008527.5	-	3	1234	c.367G>C	c.(367-369)Gaa>Caa	p.E123Q		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	123	Photolyase/cryptochrome alpha/beta.				blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						ACAATGACTTCTACTCCAGCT	0.348																																						ENST00000008527.5																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						c.(367-369)Gaa>Caa		cryptochrome 1 (photolyase-like)							165.0	159.0	161.0					12																	107398927		2203	4300	6503	SO:0001583	missense	1407				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding	g.chr12:107398927C>G	BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"""cryptochrome 1 (photolyase-like)"""	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.367G>C	12.37:g.107398927C>G	ENSP00000008527:p.Glu123Gln						p.E123Q	NM_004075.3	NP_004066.1	Q16526	CRY1_HUMAN			3	1234	-			123			DNA photolyase.			Missense_Mutation	SNP	ENST00000008527.5	37	c.367G>C	CCDS9112.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808496	0.70797	.	.	ENSG00000008405	ENST00000008527	.	.	.	5.51	5.51	0.81932	Rossmann-like alpha/beta/alpha sandwich fold (1);DNA photolyase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.62258	0.2413	L	0.53249	1.67	0.80722	D	1	B	0.28026	0.198	B	0.31390	0.129	T	0.58423	-0.7639	9	0.34782	T	0.22	-21.2092	19.4207	0.94720	0.0:1.0:0.0:0.0	.	123	Q16526	CRY1_HUMAN	Q	123	.	ENSP00000008527:E123Q	E	-	1	0	CRY1	105923057	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.601000	0.87937	0.585000	0.79938	GAA		0.348	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406827.1	NM_004075		8	61	0	0	0	1	0	8	61				
TMUB2	79089	broad.mit.edu	37	17	42266526	42266526	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:42266526G>A	ENST00000587989.1	+	3	325	c.172G>A	c.(172-174)Gta>Ata	p.V58I	TMUB2_ENST00000538716.2_Missense_Mutation_p.V58I|ASB16-AS1_ENST00000592897.1_RNA|TMUB2_ENST00000319511.6_Missense_Mutation_p.V38I|ASB16-AS1_ENST00000591166.1_RNA|ASB16-AS1_ENST00000588785.1_RNA|TMUB2_ENST00000592825.1_Missense_Mutation_p.V38I|TMUB2_ENST00000589856.1_Missense_Mutation_p.V38I|TMUB2_ENST00000446571.3_Missense_Mutation_p.V38I|TMUB2_ENST00000590235.1_Missense_Mutation_p.V38I|TMUB2_ENST00000587172.1_Missense_Mutation_p.V38I|TMUB2_ENST00000589184.1_Intron|TMUB2_ENST00000357984.3_Missense_Mutation_p.V38I|TMUB2_ENST00000589785.1_Missense_Mutation_p.V38I|ASB16-AS1_ENST00000585457.1_RNA			Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	58						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CTCTACCTACGTAGCAGACAG	0.587																																						ENST00000319511.6																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8						c.(112-114)Gta>Ata		transmembrane and ubiquitin-like domain containing 2							125.0	109.0	115.0					17																	42266526		2203	4300	6503	SO:0001583	missense	79089					integral to membrane		g.chr17:42266526G>A		CCDS11479.1, CCDS54134.1	17q21	2006-06-27				ENSG00000168591			28459	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_177441		Approved	MGC3123	uc002ifo.3	Q71RG4		ENST00000587989.1:c.172G>A	17.37:g.42266526G>A	ENSP00000466971:p.Val58Ile					TMUB2_ENST00000587989.1_Missense_Mutation_p.V58I|TMUB2_ENST00000357984.3_Missense_Mutation_p.V38I|TMUB2_ENST00000592825.1_Missense_Mutation_p.V38I|TMUB2_ENST00000446571.3_Missense_Mutation_p.V38I|TMUB2_ENST00000590235.1_Missense_Mutation_p.V38I|TMUB2_ENST00000589785.1_Missense_Mutation_p.V38I|TMUB2_ENST00000589856.1_Missense_Mutation_p.V38I|TMUB2_ENST00000538716.2_Missense_Mutation_p.V58I|TMUB2_ENST00000589184.1_Intron|TMUB2_ENST00000587172.1_Missense_Mutation_p.V38I	p.V38I	NM_177441.2	NP_803190.2	Q71RG4	TMUB2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	2	762	+		Breast(137;0.00765)|Prostate(33;0.0181)	58					B3KU81|Q8NDI2|Q9BPZ5|Q9HAG3	Missense_Mutation	SNP	ENST00000587989.1	37	c.112G>A	CCDS54134.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357144	0.82243	.	.	ENSG00000168591	ENST00000446571;ENST00000357984;ENST00000538716;ENST00000319511	T;T;T;T	0.56776	0.63;0.48;0.44;0.48	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.64638	0.2616	L	0.41236	1.265	0.54753	D	0.999989	D;D;D;D	0.89917	0.996;0.999;0.998;1.0	P;D;P;D	0.76575	0.474;0.948;0.856;0.988	T	0.64377	-0.6422	10	0.42905	T	0.14	.	16.9385	0.86209	0.0:0.0:1.0:0.0	.	38;38;38;58	E7ESS3;Q71RG4-3;Q71RG4-4;Q71RG4	.;.;.;TMUB2_HUMAN	I	38;38;58;38	ENSP00000413127:V38I;ENSP00000350672:V38I;ENSP00000444565:V58I;ENSP00000313214:V38I	ENSP00000313214:V38I	V	+	1	0	TMUB2	39622052	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.288000	0.72679	2.252000	0.74401	0.561000	0.74099	GTA		0.587	TMUB2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457711.1	NM_177441		16	133	0	0	0	1	0	16	133				
C19orf26	255057	broad.mit.edu	37	19	1234625	1234625	+	Nonsense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:1234625G>C	ENST00000382477.2	-	6	906	c.632C>G	c.(631-633)tCa>tGa	p.S211*	C19orf26_ENST00000590083.1_Nonsense_Mutation_p.S191*|C19orf26_ENST00000215376.6_Nonsense_Mutation_p.S185*			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	211						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTGGTGGCTGAGCTGGCCTC	0.672										HNSCC(14;0.022)																												ENST00000590083.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(571-573)tCa>tGa		chromosome 19 open reading frame 26							82.0	65.0	71.0					19																	1234625		2196	4295	6491	SO:0001587	stop_gained	255057					integral to membrane		g.chr19:1234625G>C	BC028156	CCDS12057.1, CCDS12057.2	19p13.3	2012-10-24			ENSG00000099625	ENSG00000099625			28617	protein-coding gene	gene with protein product	"""downstream of STK11"""					12477932	Standard	NM_152769		Approved	MGC40084, DOS	uc002lrm.3	Q8N350	OTTHUMG00000180141	ENST00000382477.2:c.632C>G	19.37:g.1234625G>C	ENSP00000371917:p.Ser211*	HNSCC(14;0.022)				C19orf26_ENST00000215376.6_Nonsense_Mutation_p.S185*|C19orf26_ENST00000382477.2_Nonsense_Mutation_p.S211*	p.S191*			Q8N350	DOS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	864	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	211					O43385	Nonsense_Mutation	SNP	ENST00000382477.2	37	c.572C>G		.	.	.	.	.	.	.	.	.	.	G	19.50	3.840211	0.71488	.	.	ENSG00000099625	ENST00000382477;ENST00000215376	.	.	.	3.06	0.92	0.19397	.	0.894418	0.09467	N	0.798174	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	4.6001	0.12348	0.308:0.0:0.692:0.0	.	.	.	.	X	211;185	.	ENSP00000215376:S185X	S	-	2	0	C19orf26	1185625	0.073000	0.21202	0.029000	0.17559	0.006000	0.05464	1.972000	0.40540	0.628000	0.30357	0.561000	0.74099	TCA		0.672	C19orf26-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_152769		8	11	0	0	0	1	0	8	11				
FAM90A1	55138	broad.mit.edu	37	12	8375292	8375292	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:8375292G>C	ENST00000538603.1	-	7	1079	c.521C>G	c.(520-522)tCt>tGt	p.S174C	FAM90A1_ENST00000307435.6_Missense_Mutation_p.S174C	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	174							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		GCCCCTGTCAGACATTTCGGT	0.572																																						ENST00000538603.1																			0				endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(520-522)tCt>tGt		family with sequence similarity 90, member A1							33.0	47.0	42.0					12																	8375292		2069	3941	6010	SO:0001583	missense	55138						nucleic acid binding|zinc ion binding	g.chr12:8375292G>C	AK001270	CCDS31738.1	12p13.31	2011-08-31		2005-11-20	ENSG00000171847	ENSG00000171847			25526	protein-coding gene	gene with protein product		613041					Standard	NM_018088		Approved	FLJ10408	uc001qui.2	Q86YD7	OTTHUMG00000168641	ENST00000538603.1:c.521C>G	12.37:g.8375292G>C	ENSP00000445418:p.Ser174Cys					FAM90A1_ENST00000307435.6_Missense_Mutation_p.S174C	p.S174C	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN		Kidney(36;0.0866)	7	1079	-			174					D3DUU9|Q9NVZ6	Missense_Mutation	SNP	ENST00000538603.1	37	c.521C>G	CCDS31738.1	.	.	.	.	.	.	.	.	.	.	.	8.509	0.866076	0.17250	.	.	ENSG00000171847	ENST00000307435;ENST00000538603	T;T	0.15372	2.43;2.43	0.444	0.444	0.16592	.	.	.	.	.	T	0.19967	0.0480	N	0.19112	0.55	0.09310	N	1	D	0.67145	0.996	P	0.61592	0.891	T	0.15292	-1.0442	8	0.72032	D	0.01	4.0796	.	.	.	.	174	Q86YD7	F90A1_HUMAN	C	174	ENSP00000307798:S174C;ENSP00000445418:S174C	ENSP00000307798:S174C	S	-	2	0	FAM90A1	8266559	0.004000	0.15560	0.005000	0.12908	0.021000	0.10359	0.315000	0.19451	0.466000	0.27193	0.205000	0.17691	TCT		0.572	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400468.1	NM_018088		5	95	0	0	0	1	0	5	95				
LRP1B	53353	broad.mit.edu	37	2	140990855	140990855	+	Missense_Mutation	SNP	A	A	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:140990855A>G	ENST00000389484.3	-	91	14671	c.13700T>C	c.(13699-13701)aTg>aCg	p.M4567T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4567					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)		TTGCCCATCCATATATAATTT	0.323										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(13699-13701)aTg>aCg		low density lipoprotein receptor-related protein 1B							87.0	85.0	86.0					2																	140990855		2202	4299	6501	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:140990855A>G	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.13700T>C	2.37:g.140990855A>G	ENSP00000374135:p.Met4567Thr	TSP Lung(27;0.18)					p.M4567T	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	91	14671	-		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)	4567					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.13700T>C	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.82|12.82	2.052817|2.052817	0.36181|0.36181	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	T|.	0.48201|.	0.82|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.062952|.	0.64402|.	U|.	0.000007|.	T|T	0.64450|0.64450	0.2599|0.2599	L|L	0.52011|0.52011	1.625|1.625	0.36368|0.36368	D|D	0.861159|0.861159	B|.	0.24092|.	0.097|.	B|.	0.16722|.	0.016|.	T|T	0.69000|0.69000	-0.5261|-0.5261	10|5	0.56958|.	D|.	0.05|.	.|.	15.9456|15.9456	0.79789|0.79789	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	4567|.	Q9NZR2|.	LRP1B_HUMAN|.	T|R	4567;4505|766	ENSP00000374135:M4567T|.	ENSP00000374135:M4567T|.	M|W	-|-	2|1	0|0	LRP1B|LRP1B	140707325|140707325	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	8.962000|8.962000	0.93254|0.93254	2.167000|2.167000	0.68274|0.68274	0.477000|0.477000	0.44152|0.44152	ATG|TGG		0.323	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		4	26	0	0	0	1	0	4	26				
RTP2	344892	broad.mit.edu	37	3	187416648	187416648	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:187416648C>T	ENST00000358241.1	-	2	744	c.316G>A	c.(316-318)Gag>Aag	p.E106K		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	106					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		ATGCTGGACTCGTCCAGCCGC	0.652																																						ENST00000358241.1																			0				large_intestine(3)|lung(14)|skin(1)	18						c.(316-318)Gag>Aag		receptor (chemosensory) transporter protein 2							23.0	21.0	22.0					3																	187416648		2200	4275	6475	SO:0001583	missense	344892				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:187416648C>T	AY562236	CCDS33911.1	3q27.3	2014-02-20	2006-11-21		ENSG00000198471	ENSG00000198471		"""Receptor transporter proteins"""	32486	protein-coding gene	gene with protein product	"""receptor transporting protein 2"", ""zinc finger, 3CxxC-type 2"""	609138	"""receptor transporter protein 2"""			16271481, 15550249, 16720576	Standard	NM_001004312		Approved	MGC78665, Z3CXXC2	uc003fro.1	Q5QGT7	OTTHUMG00000156458	ENST00000358241.1:c.316G>A	3.37:g.187416648C>T	ENSP00000350976:p.Glu106Lys						p.E106K	NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)	2	744	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		106					Q6NVH4	Missense_Mutation	SNP	ENST00000358241.1	37	c.316G>A	CCDS33911.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.030836	0.54790	.	.	ENSG00000198471	ENST00000358241	T	0.21191	2.02	4.04	4.04	0.47022	.	0.266144	0.42821	D	0.000652	T	0.25158	0.0611	L	0.27053	0.805	0.34423	D	0.697672	D	0.76494	0.999	D	0.66602	0.945	T	0.02698	-1.1122	10	0.07813	T	0.8	-33.108	11.9954	0.53198	0.0:1.0:0.0:0.0	.	106	Q5QGT7	RTP2_HUMAN	K	106	ENSP00000350976:E106K	ENSP00000350976:E106K	E	-	1	0	RTP2	188899342	0.987000	0.35691	1.000000	0.80357	0.597000	0.36814	2.877000	0.48506	2.552000	0.86080	0.462000	0.41574	GAG		0.652	RTP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344259.1	NM_001004312		3	29	0	0	0	1	0	3	29				
PRPF8	10594	broad.mit.edu	37	17	1563262	1563262	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:1563262C>G	ENST00000572621.1	-	30	5084	c.4819G>C	c.(4819-4821)Gag>Cag	p.E1607Q	PRPF8_ENST00000304992.6_Missense_Mutation_p.E1607Q			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1607	Restriction endonuclease homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGTACTGTCTCAATTTCCAGT	0.403																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(4819-4821)Gag>Cag		pre-mRNA processing factor 8							170.0	142.0	151.0					17																	1563262		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1563262C>G	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.4819G>C	17.37:g.1563262C>G	ENSP00000460348:p.Glu1607Gln					PRPF8_ENST00000304992.6_Missense_Mutation_p.E1607Q	p.E1607Q			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	30	5084	-			1607					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.4819G>C	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	c	23.3	4.404045	0.83230	.	.	ENSG00000174231	ENST00000304992;ENST00000540177	D	0.82433	-1.61	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.86690	0.5993	M	0.84948	2.725	0.80722	D	1	B	0.15930	0.015	B	0.18263	0.021	T	0.82319	-0.0516	10	0.56958	D	0.05	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	1607	Q6P2Q9	PRP8_HUMAN	Q	1607;134	ENSP00000304350:E1607Q	ENSP00000304350:E1607Q	E	-	1	0	PRPF8	1510012	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.738000	0.84966	2.882000	0.98803	0.655000	0.94253	GAG		0.403	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			6	73	0	0	0	1	0	6	73				
C2CD3	26005	broad.mit.edu	37	11	73850728	73850728	+	Nonsense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:73850728G>C	ENST00000334126.7	-	4	855	c.629C>G	c.(628-630)tCa>tGa	p.S210*	C2CD3_ENST00000539061.1_Nonsense_Mutation_p.S210*|C2CD3_ENST00000313663.7_Nonsense_Mutation_p.S210*			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	210					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GCGAGGCCTTGATGGAACCTG	0.438																																						ENST00000334126.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.(628-630)tCa>tGa		C2 calcium-dependent domain containing 3							232.0	232.0	232.0					11																	73850728		2200	4293	6493	SO:0001587	stop_gained	26005					centrosome		g.chr11:73850728G>C	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.629C>G	11.37:g.73850728G>C	ENSP00000334379:p.Ser210*					C2CD3_ENST00000313663.7_Nonsense_Mutation_p.S210*|C2CD3_ENST00000539061.1_Nonsense_Mutation_p.S210*	p.S210*			Q4AC94	C2CD3_HUMAN			4	855	-	Breast(11;4.16e-06)		210					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Nonsense_Mutation	SNP	ENST00000334126.7	37	c.629C>G		.	.	.	.	.	.	.	.	.	.	G	14.86	2.662589	0.47572	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000289350;ENST00000539061	.	.	.	5.74	4.83	0.62350	.	0.524964	0.17188	N	0.183605	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-0.7067	11.9667	0.53040	0.0813:0.0:0.9187:0.0	.	.	.	.	X	210	.	ENSP00000289350:S210X	S	-	2	0	C2CD3	73528376	0.839000	0.29477	0.162000	0.22713	0.297000	0.27493	6.161000	0.71868	1.439000	0.47511	-0.142000	0.14014	TCA		0.438	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		25	170	0	0	0	1	0	25	170				
HIST1H2AK	8330	broad.mit.edu	37	6	27805761	27805761	+	Silent	SNP	C	C	T	rs551526680		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:27805761C>T	ENST00000330180.2	-	1	356	c.357G>A	c.(355-357)aaG>aaA	p.K119K	HIST1H2BN_ENST00000606613.1_5'Flank|HIST1H2BN_ENST00000396980.3_5'Flank	NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	119						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						TCTCAGTTTTCTTAGGCAGCA	0.552																																						ENST00000330180.2																			0				breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						c.(355-357)aaG>aaA		histone cluster 1, H2ak							88.0	89.0	89.0					6																	27805761		2203	4300	6503	SO:0001819	synonymous_variant	8330				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27805761C>T	Z83739	CCDS4632.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000184348	ENSG00000275221		"""Histones / Replication-dependent"""	4726	protein-coding gene	gene with protein product		602788	"""H2A histone family, member D"", ""histone 1, H2ak"""	H2AFD		9439656, 12408966	Standard	NM_003510		Approved	H2A/d	uc003njs.3	P0C0S8	OTTHUMG00000016382	ENST00000330180.2:c.357G>A	6.37:g.27805761C>T							p.K119K	NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN			1	356	-			119					P02261|Q2M1R2|Q76PA6	Silent	SNP	ENST00000330180.2	37	c.357G>A	CCDS4632.1																																																																																				0.552	HIST1H2AK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043814.1	NM_003510		10	156	0	0	0	1	0	10	156				
STAMBPL1	57559	broad.mit.edu	37	10	90665330	90665330	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:90665330C>G	ENST00000371926.3	+	3	1119	c.161C>G	c.(160-162)tCt>tGt	p.S54C	STAMBPL1_ENST00000371924.1_Missense_Mutation_p.S54C|STAMBPL1_ENST00000371927.3_Missense_Mutation_p.S54C	NM_020799.3	NP_065850.1	Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	54						membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		TACTTTAGGTCTGGAGTAGAG	0.408																																						ENST00000371927.3																			0				breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11						c.(160-162)tCt>tGt		STAM binding protein-like 1							145.0	135.0	139.0					10																	90665330		2203	4300	6503	SO:0001583	missense	57559						metal ion binding|metallopeptidase activity|protein binding	g.chr10:90665330C>G	AB037794	CCDS7391.1	10q23.32	2006-11-08			ENSG00000138134	ENSG00000138134			24105	protein-coding gene	gene with protein product	"""associated molecule with the SH3 domain of STAM (AMSH) like protein"", ""associated molecule with the SH3 domain of STAM (AMSH) - Family Protein"""	612352				12810066, 12943674	Standard	NM_020799		Approved	AMSH-LP, KIAA1373, AMSH-FP, FLJ31524, ALMalpha, bA399O19.2	uc001kfk.4	Q96FJ0	OTTHUMG00000018702	ENST00000371926.3:c.161C>G	10.37:g.90665330C>G	ENSP00000360994:p.Ser54Cys					STAMBPL1_ENST00000371924.1_Missense_Mutation_p.S54C|STAMBPL1_ENST00000371926.3_Missense_Mutation_p.S54C	p.S54C			Q96FJ0	STALP_HUMAN		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)	3	1119	+		Colorectal(252;0.0381)	54					B3KPA7|Q5T9N4|Q5T9N9|Q7Z420|Q9P2H4	Missense_Mutation	SNP	ENST00000371926.3	37	c.161C>G	CCDS7391.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.204337	0.58234	.	.	ENSG00000138134	ENST00000371926;ENST00000371927;ENST00000371924	T;T;T	0.28069	1.66;1.63;1.66	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.59569	0.2203	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.992	T	0.62234	-0.6897	10	0.62326	D	0.03	-3.5663	18.2527	0.90009	0.0:1.0:0.0:0.0	.	54;54	Q96FJ0-2;Q96FJ0	.;STALP_HUMAN	C	54	ENSP00000360994:S54C;ENSP00000360995:S54C;ENSP00000360992:S54C	ENSP00000360992:S54C	S	+	2	0	STAMBPL1	90655310	1.000000	0.71417	0.634000	0.29324	0.089000	0.18198	7.389000	0.79806	2.831000	0.97527	0.655000	0.94253	TCT		0.408	STAMBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049283.1	NM_020799		14	53	0	0	0	1	0	14	53				
RNF128	79589	broad.mit.edu	37	X	106034391	106034391	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:106034391G>A	ENST00000255499.2	+	6	1330	c.1080G>A	c.(1078-1080)gaG>gaA	p.E360E	RNF128_ENST00000324342.3_Silent_p.E334E	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	360					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						ATCGCAGCGAGACCGCATCAT	0.448																																						ENST00000255499.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						c.(1078-1080)gaG>gaA		ring finger protein 128, E3 ubiquitin protein ligase							204.0	181.0	189.0					X																	106034391		2203	4300	6503	SO:0001819	synonymous_variant	79589					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	g.chrX:106034391G>A	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"""RING-type (C3HC4) zinc fingers"""	21153	protein-coding gene	gene with protein product		300439	"""ring finger protein 128"""				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.1080G>A	X.37:g.106034391G>A						RNF128_ENST00000324342.3_Silent_p.E334E	p.E360E	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN			6	1330	+			360					A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Silent	SNP	ENST00000255499.2	37	c.1080G>A	CCDS14521.1																																																																																				0.448	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057804.1	NM_024539		14	189	0	0	0	1	0	14	189				
EEF1A1	1915	broad.mit.edu	37	6	74229640	74229640	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:74229640C>T	ENST00000316292.9	-	1	1101	c.110G>A	c.(109-111)aGa>aAa	p.R37K	EEF1A1_ENST00000309268.6_Missense_Mutation_p.R37K|EEF1A1_ENST00000331523.2_Missense_Mutation_p.R37K|EEF1A1_ENST00000491404.1_5'Flank	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	37	tr-type G.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						TTCAATGGTTCTTTTGTCGAT	0.408																																						ENST00000316292.9																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						c.(109-111)aGa>aAa		eukaryotic translation elongation factor 1 alpha 1							101.0	104.0	103.0					6																	74229640		2203	4300	6503	SO:0001583	missense	1915					cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr6:74229640C>T	BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.110G>A	6.37:g.74229640C>T	ENSP00000339063:p.Arg37Lys					EEF1A1_ENST00000331523.2_Missense_Mutation_p.R37K|EEF1A1_ENST00000309268.6_Missense_Mutation_p.R37K	p.R37K	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN			1	1101	-			37					P04719|P04720|Q6IQ15	Missense_Mutation	SNP	ENST00000316292.9	37	c.110G>A	CCDS4980.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270265	0.80469	.	.	ENSG00000156508	ENST00000316292;ENST00000358190;ENST00000309268;ENST00000331523;ENST00000391977;ENST00000456206;ENST00000356303;ENST00000455918	T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49	4.15	4.15	0.48705	Protein synthesis factor, GTP-binding (2);	0.000000	0.85682	U	0.000000	T	0.76097	0.3940	L	0.45744	1.44	0.80722	D	1	P;D;D;D;D	0.69078	0.953;0.997;0.997;0.997;0.997	D;D;D;D;D	0.85130	0.97;0.997;0.997;0.997;0.997	T	0.79654	-0.1713	10	0.87932	D	0	.	17.0056	0.86392	0.0:1.0:0.0:0.0	.	37;37;37;37;37	A6PW80;P68104;Q53HR5;Q6IPS9;Q5VTE0	.;EF1A1_HUMAN;.;.;EF1A3_HUMAN	K	37	ENSP00000339063:R37K;ENSP00000339053:R37K;ENSP00000330054:R37K;ENSP00000348651:R37K;ENSP00000392366:R37K	ENSP00000339053:R37K	R	-	2	0	EEF1A1	74286361	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.457000	0.80775	2.310000	0.77875	0.555000	0.69702	AGA		0.408	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		5	60	0	0	0	1	0	5	60				
PCSK7	9159	broad.mit.edu	37	11	117090319	117090319	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:117090319G>A	ENST00000320934.3	-	10	1941	c.1311C>T	c.(1309-1311)ttC>ttT	p.F437F	PCSK7_ENST00000540028.1_Silent_p.F78F	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	437	Peptidase S8.				peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GGGTGGCTGTGAAGACAATGA	0.592			T	IGH@	MLCLS																																	ENST00000320934.3				Dom	yes		11	11q23.3	9159	T	proprotein convertase subtilisin/kexin type 7			L	IGH@		MLCLS		0				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16						c.(1309-1311)ttC>ttT		proprotein convertase subtilisin/kexin type 7							60.0	46.0	51.0					11																	117090319		2201	4296	6497	SO:0001819	synonymous_variant	9159				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity	g.chr11:117090319G>A	U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.1311C>T	11.37:g.117090319G>A						PCSK7_ENST00000540028.1_Silent_p.F78F	p.F437F	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)	10	1941	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	437			Catalytic.		B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Silent	SNP	ENST00000320934.3	37	c.1311C>T	CCDS8382.1																																																																																				0.592	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2	NM_004716		6	56	0	0	0	1	0	6	56				
GUCD1	83606	broad.mit.edu	37	22	24944010	24944010	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:24944010C>G	ENST00000407471.3	-	3	350	c.160G>C	c.(160-162)Gag>Cag	p.E54Q	GUCD1_ENST00000447813.2_Missense_Mutation_p.E54Q|GUCD1_ENST00000404664.3_Missense_Mutation_p.E110Q|GUCD1_ENST00000435822.1_Missense_Mutation_p.E54Q|GUCD1_ENST00000402766.1_Missense_Mutation_p.E54Q|GUCD1_ENST00000490922.1_5'Flank	NM_001284251.1	NP_001271180.1	Q96NT3	GUCD1_HUMAN	guanylyl cyclase domain containing 1	54																	AGGGCTCTCTCAAACTCACTG	0.602																																						ENST00000435822.1																			0											c.(160-162)Gag>Cag		guanylyl cyclase domain containing 1							101.0	80.0	87.0					22																	24944010		2203	4300	6503	SO:0001583	missense	83606							g.chr22:24944010C>G	AK054681	CCDS33621.1, CCDS63426.1, CCDS63427.1, CCDS74831.1, CCDS74832.1, CCDS74833.1	22q11.2	2012-11-13	2012-11-13	2012-11-13	ENSG00000138867	ENSG00000138867			14237	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 13"""	C22orf13		12477932	Standard	XM_005261761		Approved	MGC1842, LLN4	uc003aah.2	Q96NT3	OTTHUMG00000150728	ENST00000407471.3:c.160G>C	22.37:g.24944010C>G	ENSP00000386076:p.Glu54Gln					GUCD1_ENST00000407471.3_Missense_Mutation_p.E54Q|GUCD1_ENST00000402766.1_Missense_Mutation_p.E54Q|GUCD1_ENST00000404664.3_Missense_Mutation_p.E110Q|GUCD1_ENST00000447813.2_Missense_Mutation_p.E54Q	p.E54Q	NM_031444.2	NP_113632.2					3	484	-								B5MCB8|B5MCL7|Q96Q79|Q9BU32	Missense_Mutation	SNP	ENST00000407471.3	37	c.160G>C	CCDS33621.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.294875	0.40594	.	.	ENSG00000138867	ENST00000407471;ENST00000435822;ENST00000404664;ENST00000447813;ENST00000402766;ENST00000407973	.	.	.	5.13	5.13	0.70059	.	0.253173	0.39407	N	0.001378	T	0.34919	0.0914	N	0.11927	0.2	0.48087	D	0.999585	B;B;B;B;B	0.33583	0.418;0.203;0.022;0.019;0.064	B;B;B;B;B	0.34873	0.191;0.077;0.027;0.026;0.025	T	0.22906	-1.0203	9	0.30854	T	0.27	-33.705	12.7676	0.57401	0.0:0.7195:0.2805:0.0	.	54;110;118;54;54	E9PGZ7;B5MCL7;B4DH83;B4DL90;Q96NT3	.;.;.;.;CV013_HUMAN	Q	54;54;110;54;54;54	.	ENSP00000381297:E54Q	E	-	1	0	C22orf13	23274010	1.000000	0.71417	0.356000	0.25785	0.993000	0.82548	4.372000	0.59530	2.391000	0.81399	0.655000	0.94253	GAG		0.602	GUCD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319819.1	NM_031444		5	58	0	0	0	1	0	5	58				
NOA1	84273	broad.mit.edu	37	4	57843128	57843128	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:57843128C>T	ENST00000264230.4	-	1	1861	c.624G>A	c.(622-624)gcG>gcA	p.A208A	POLR2B_ENST00000441246.2_5'Flank|POLR2B_ENST00000431623.2_5'Flank|POLR2B_ENST00000314595.5_5'Flank|POLR2B_ENST00000381227.1_5'Flank	NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	208	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										GCCGCCGCAACGCGGCGCTCA	0.731																																						ENST00000264230.4																			0											c.(622-624)gcG>gcA		nitric oxide associated 1							14.0	19.0	17.0					4																	57843128		2070	4129	6199	SO:0001819	synonymous_variant	84273						GTP binding	g.chr4:57843128C>T	AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"""nitric oxide synthase, mitochondrial (putative)"", ""mitochondrial GTPase 3 homolog (S. cerevisiae)"""	614919	"""chromosome 4 open reading frame 14"""	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.624G>A	4.37:g.57843128C>T							p.A208A	NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN			1	1861	-			208					Q8N7L6|Q9BSQ9	Silent	SNP	ENST00000264230.4	37	c.624G>A	CCDS3510.1																																																																																				0.731	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250694.2	NM_032313		5	38	0	0	0	1	0	5	38				
MYH9	4627	broad.mit.edu	37	22	36697661	36697661	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:36697661C>A	ENST00000216181.5	-	21	2780	c.2550G>T	c.(2548-2550)aaG>aaT	p.K850N		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	850					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCTCCTCCTCCTTGGCCATCA	0.617			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated		OREG0026520	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(2548-2550)aaG>aaT		myosin, heavy chain 9, non-muscle							131.0	95.0	107.0					22																	36697661		2202	4300	6502	SO:0001583	missense	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36697661C>A		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2550G>T	22.37:g.36697661C>A	ENSP00000216181:p.Lys850Asn		OREG0026520	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	864		p.K850N	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			21	2780	-			850					A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.2550G>T	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.237443	0.79800	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	T	0.75938	-0.98	5.78	2.58	0.30949	.	0.000000	0.85682	D	0.000000	D	0.87783	0.6264	H	0.94808	3.585	0.80722	D	1	D	0.76494	0.999	D	0.66351	0.943	D	0.88675	0.3198	10	0.87932	D	0	.	11.0839	0.48076	0.0:0.8001:0.0:0.1999	.	850	P35579	MYH9_HUMAN	N	714;850	ENSP00000216181:K850N	ENSP00000216181:K850N	K	-	3	2	MYH9	35027607	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.099000	0.41767	0.464000	0.27142	-0.136000	0.14681	AAG		0.617	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		12	47	1	0	0.00136819	1	0.00140701	12	47				
F8	2157	broad.mit.edu	37	X	154197759	154197759	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:154197759G>A	ENST00000360256.4	-	7	1056	c.856C>T	c.(856-858)Cac>Tac	p.H286Y	F8_ENST00000483822.1_5'Flank	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	286	F5/8 type A 1.|Plastocyanin-like 2.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AATATTGAGTGCACTTCAGGA	0.453																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	GRCh37	CI083372	F8	I		c.(856-858)Cac>Tac		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						168.0	144.0	152.0					X																	154197759		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154197759G>A	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.856C>T	X.37:g.154197759G>A	ENSP00000353393:p.His286Tyr						p.H286Y	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			7	1056	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		286			F5/8 type A 1.|Plastocyanin-like 2.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.856C>T	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129509	0.77549	.	.	ENSG00000185010	ENST00000360256	D	0.99809	-6.86	5.51	5.51	0.81932	Cupredoxin (2);Multicopper oxidase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99829	0.9923	M	0.94063	3.49	0.37453	D	0.91488	D	0.89917	1.0	D	0.91635	0.999	D	0.97003	0.9730	10	0.72032	D	0.01	-16.895	15.0533	0.71891	0.0:0.0:1.0:0.0	.	286	P00451	FA8_HUMAN	Y	286	ENSP00000353393:H286Y	ENSP00000353393:H286Y	H	-	1	0	F8	153850953	1.000000	0.71417	0.938000	0.37757	0.977000	0.68977	6.777000	0.75028	2.305000	0.77605	0.544000	0.68410	CAC		0.453	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			29	97	0	0	0	1	0	29	97				
NOLC1	9221	broad.mit.edu	37	10	103921999	103921999	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:103921999C>T	ENST00000605788.1	+	13	2308	c.2073C>T	c.(2071-2073)gtC>gtT	p.V691V	NOLC1_ENST00000603742.1_Silent_p.V410V|NOLC1_ENST00000488254.2_Silent_p.V692V|NOLC1_ENST00000477977.1_Intron|NOLC1_ENST00000405356.1_Silent_p.V701V	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	691					cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		CTGTCCAGGTCAATTCTATTA	0.507																																						ENST00000405356.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31						c.(2101-2103)gtC>gtT		nucleolar and coiled-body phosphoprotein 1							129.0	144.0	139.0					10																	103921999		2203	4300	6503	SO:0001819	synonymous_variant	9221				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding	g.chr10:103921999C>T	Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.2073C>T	10.37:g.103921999C>T						NOLC1_ENST00000488254.2_Silent_p.V692V|NOLC1_ENST00000605788.1_Silent_p.V691V|NOLC1_ENST00000477977.1_Intron|NOLC1_ENST00000603742.1_Silent_p.V410V	p.V701V			Q14978	NOLC1_HUMAN		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)	13	2338	+		Colorectal(252;0.122)	691					Q15030|Q5VV70|Q9BUV3	Silent	SNP	ENST00000605788.1	37	c.2103C>T	CCDS7530.1																																																																																				0.507	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	NM_004741		32	208	0	0	0	1	0	32	208				
DGKA	1606	broad.mit.edu	37	12	56347166	56347166	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:56347166G>T	ENST00000331886.5	+	23	2550	c.2096G>T	c.(2095-2097)gGa>gTa	p.G699V	DGKA_ENST00000551156.1_Missense_Mutation_p.G699V|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Missense_Mutation_p.G699V	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	699				G -> V (in Ref. 1; CAA44396). {ECO:0000305}.	blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)	p.G699V(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	CAAATTGACGGAGAACCCTGG	0.468																																						ENST00000331886.5																			1	Substitution - Missense(1)	p.G699V(1)	lung(1)	breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25						c.(2095-2097)gGa>gTa		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)						253.0	248.0	250.0					12																	56347166		2203	4300	6503	SO:0001583	missense	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56347166G>T	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.2096G>T	12.37:g.56347166G>T	ENSP00000328405:p.Gly699Val					DGKA_ENST00000551156.1_Missense_Mutation_p.G699V|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Missense_Mutation_p.G699V	p.G699V	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN			23	2550	+			699	G -> V (in Ref. 1; CAA44396).				O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Missense_Mutation	SNP	ENST00000331886.5	37	c.2096G>T	CCDS8896.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.599485	0.87055	.	.	ENSG00000065357	ENST00000331886;ENST00000394147;ENST00000551156	D;D;D	0.91124	-2.79;-2.79;-2.79	4.71	4.71	0.59529	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	D	0.97133	0.9063	H	0.97291	3.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98753	1.0721	10	0.87932	D	0	.	16.8197	0.85742	0.0:0.0:1.0:0.0	.	699	P23743	DGKA_HUMAN	V	699	ENSP00000328405:G699V;ENSP00000377703:G699V;ENSP00000450359:G699V	ENSP00000328405:G699V	G	+	2	0	DGKA	54633433	1.000000	0.71417	0.982000	0.44146	0.895000	0.52256	9.290000	0.96065	2.312000	0.78011	0.561000	0.74099	GGA		0.468	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			25	372	1	0	5.61819e-17	1	6.18712e-17	25	372				
ATXN2	6311	broad.mit.edu	37	12	111963105	111963105	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:111963105G>C	ENST00000377617.3	-	6	1228	c.1067C>G	c.(1066-1068)tCt>tGt	p.S356C	ATXN2_ENST00000389153.4_Missense_Mutation_p.S91C|ATXN2_ENST00000550104.1_Missense_Mutation_p.S356C|ATXN2_ENST00000542287.2_Missense_Mutation_p.S91C|ATXN2_ENST00000535949.1_Missense_Mutation_p.S67C|ATXN2_ENST00000608853.1_Missense_Mutation_p.S196C|ATXN2_ENST00000549455.1_5'UTR	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	356					cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						ACTGATAGCAGAGTCAGTAAA	0.428																																						ENST00000377617.3																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						c.(1066-1068)tCt>tGt		ataxin 2							115.0	105.0	109.0					12																	111963105		2203	4300	6503	SO:0001583	missense	6311				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding	g.chr12:111963105G>C	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.1067C>G	12.37:g.111963105G>C	ENSP00000366843:p.Ser356Cys					ATXN2_ENST00000550104.1_Missense_Mutation_p.S356C|ATXN2_ENST00000542287.2_Missense_Mutation_p.S91C|ATXN2_ENST00000535949.1_Missense_Mutation_p.S67C|ATXN2_ENST00000549455.1_5'UTR|ATXN2_ENST00000389153.4_Missense_Mutation_p.S91C	p.S356C	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN			6	1228	-			356					A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	ENST00000377617.3	37	c.1067C>G	CCDS31902.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937152	0.73557	.	.	ENSG00000204842	ENST00000389153;ENST00000377617;ENST00000550104;ENST00000542287;ENST00000535949;ENST00000471866;ENST00000548492	T;T	0.69175	-0.33;-0.38	5.37	5.37	0.77165	.	0.241478	0.43260	D	0.000593	D	0.82296	0.5006	M	0.74881	2.28	0.52501	D	0.999955	D;D;D;D	0.89917	0.989;1.0;0.999;0.999	D;D;D;D	0.74348	0.934;0.983;0.969;0.947	D	0.83898	0.0288	10	0.87932	D	0	-13.7671	19.4597	0.94912	0.0:0.0:1.0:0.0	.	91;356;67;91	B3KT59;Q99700;Q24JQ7;F8VQP2	.;ATX2_HUMAN;.;.	C	91;356;356;91;67;32;99	ENSP00000366843:S356C;ENSP00000446576:S356C	ENSP00000366843:S356C	S	-	2	0	ATXN2	110447488	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.929000	0.70096	2.677000	0.91161	0.467000	0.42956	TCT		0.428	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		7	78	0	0	0	1	0	7	78				
KIAA1462	57608	broad.mit.edu	37	10	30317227	30317227	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:30317227G>T	ENST00000375377.1	-	3	1951	c.1850C>A	c.(1849-1851)cCg>cAg	p.P617Q		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	617					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TTGCAGAGCCGGGCTCTTATC	0.493																																						ENST00000375377.1																			0				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(1849-1851)cCg>cAg		KIAA1462							92.0	88.0	89.0					10																	30317227		1890	4123	6013	SO:0001583	missense	57608							g.chr10:30317227G>T	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.1850C>A	10.37:g.30317227G>T	ENSP00000364526:p.Pro617Gln						p.P617Q	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			3	1951	-			617					Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	c.1850C>A	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	G	9.071	0.996947	0.19043	.	.	ENSG00000165757	ENST00000375377	T	0.11604	2.76	5.62	2.69	0.31865	.	0.851386	0.10424	N	0.676334	T	0.07863	0.0197	L	0.29908	0.895	0.09310	N	1	B	0.29531	0.247	B	0.22753	0.041	T	0.31888	-0.9927	10	0.51188	T	0.08	0.9323	6.5801	0.22589	0.1941:0.3717:0.4342:0.0	.	617	Q9P266	K1462_HUMAN	Q	617	ENSP00000364526:P617Q	ENSP00000364526:P617Q	P	-	2	0	KIAA1462	30357233	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.111000	0.15458	0.743000	0.32719	0.561000	0.74099	CCG		0.493	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		26	38	1	0	3.01185e-09	1	3.26722e-09	26	38				
GNG5	2787	broad.mit.edu	37	1	84967543	84967543	+	Silent	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:84967543G>C	ENST00000370641.3	-	2	665	c.192C>G	c.(190-192)gtC>gtG	p.V64V	GNG5_ENST00000370645.4_Silent_p.V64V|GNG5_ENST00000487806.1_5'UTR			P63218	GBG5_HUMAN	guanine nucleotide binding protein (G protein), gamma 5	64					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|PDZ domain binding (GO:0030165)|signal transducer activity (GO:0004871)			lung(1)|skin(1)	2				all cancers(265;0.00634)|Epithelial(280;0.0175)|OV - Ovarian serous cystadenocarcinoma(397;0.159)		AAAAGGAACAGACTTTCTGGG	0.388																																						ENST00000370641.3																			0				lung(1)|skin(1)	2						c.(190-192)gtC>gtG		guanine nucleotide binding protein (G protein), gamma 5							46.0	50.0	49.0					1																	84967543		2202	4299	6501	SO:0001819	synonymous_variant	2787				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity	g.chr1:84967543G>C	AF038955	CCDS696.1	1p22	2014-05-14			ENSG00000174021	ENSG00000174021			4408	protein-coding gene	gene with protein product		600874				7606925	Standard	NM_005274		Approved		uc001djw.4	P63218	OTTHUMG00000009858	ENST00000370641.3:c.192C>G	1.37:g.84967543G>C						GNG5_ENST00000370645.4_Silent_p.V64V|GNG5_ENST00000487806.1_5'UTR	p.V64V			P63218	GBG5_HUMAN		all cancers(265;0.00634)|Epithelial(280;0.0175)|OV - Ovarian serous cystadenocarcinoma(397;0.159)	2	665	-			64					B2R5A0|P30670|Q5VX54|Q61015	Silent	SNP	ENST00000370641.3	37	c.192C>G	CCDS696.1																																																																																				0.388	GNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027240.1	NM_005274		6	49	0	0	0	1	0	6	49				
CPNE2	221184	broad.mit.edu	37	16	57180017	57180017	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr16:57180017C>T	ENST00000535318.2	+	16	1684	c.1323C>T	c.(1321-1323)atC>atT	p.I441I	CPNE2_ENST00000565951.1_3'UTR|CPNE2_ENST00000565874.1_Silent_p.I441I|CPNE2_ENST00000290776.8_Silent_p.I441I|CPNE2_ENST00000537605.1_Silent_p.I339I			Q96FN4	CPNE2_HUMAN	copine II	441	VWFA.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				TCCTCCTCATCATCACGGACG	0.612																																						ENST00000535318.2																			0				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21						c.(1321-1323)atC>atT		copine II							40.0	29.0	33.0					16																	57180017		2198	4300	6498	SO:0001819	synonymous_variant	221184							g.chr16:57180017C>T		CCDS10774.1	16q13	2008-02-05			ENSG00000140848	ENSG00000140848			2315	protein-coding gene	gene with protein product		604206				9430674	Standard	NM_152727		Approved	CPN2	uc002eks.2	Q96FN4	OTTHUMG00000133471	ENST00000535318.2:c.1323C>T	16.37:g.57180017C>T						CPNE2_ENST00000565874.1_Silent_p.I441I|CPNE2_ENST00000537605.1_Silent_p.I339I|CPNE2_ENST00000565951.1_3'UTR|CPNE2_ENST00000290776.8_Silent_p.I441I	p.I441I			Q96FN4	CPNE2_HUMAN			16	1684	+		all_neural(199;0.224)	441			VWFA.		Q68D19|Q719H8|Q86XP9	Silent	SNP	ENST00000535318.2	37	c.1323C>T	CCDS10774.1																																																																																				0.612	CPNE2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432986.2	NM_152727		3	15	0	0	0	1	0	3	15				
UBP1	7342	broad.mit.edu	37	3	33450944	33450944	+	Missense_Mutation	SNP	A	A	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:33450944A>C	ENST00000283629.3	-	6	1234	c.705T>G	c.(703-705)ttT>ttG	p.F235L	UBP1_ENST00000283628.5_Missense_Mutation_p.F235L|UBP1_ENST00000486388.1_5'Flank|UBP1_ENST00000447368.2_Missense_Mutation_p.F235L	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	235					angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						GTCTTACCTTAAAAACTTTGA	0.408																																						ENST00000283629.3																			0				breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						c.(703-705)ttT>ttG		upstream binding protein 1 (LBP-1a)							125.0	123.0	124.0					3																	33450944		2203	4300	6503	SO:0001583	missense	7342				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr3:33450944A>C	AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.705T>G	3.37:g.33450944A>C	ENSP00000283629:p.Phe235Leu					UBP1_ENST00000447368.2_Missense_Mutation_p.F235L|UBP1_ENST00000283628.5_Missense_Mutation_p.F235L	p.F235L	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN			6	1234	-			235					Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Missense_Mutation	SNP	ENST00000283629.3	37	c.705T>G	CCDS2659.1	.	.	.	.	.	.	.	.	.	.	A	15.72	2.917816	0.52546	.	.	ENSG00000153560	ENST00000283629;ENST00000447368;ENST00000283628	T;T;T	0.48836	0.8;0.8;0.8	6.08	-0.38	0.12490	CP2 transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.67011	0.2848	M	0.93016	3.37	0.80722	D	1	B;P	0.51933	0.037;0.949	B;P	0.58130	0.024;0.833	T	0.70687	-0.4803	10	0.87932	D	0	-8.7787	10.2184	0.43182	0.6768:0.0:0.3232:0.0	.	235;235	Q9NZI7-4;Q9NZI7	.;UBIP1_HUMAN	L	235	ENSP00000283629:F235L;ENSP00000395558:F235L;ENSP00000283628:F235L	ENSP00000283628:F235L	F	-	3	2	UBP1	33425948	1.000000	0.71417	0.993000	0.49108	0.991000	0.79684	2.017000	0.40981	-0.265000	0.09352	0.482000	0.46254	TTT		0.408	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	NM_014517		12	54	0	0	0	1	0	12	54				
MYSM1	114803	broad.mit.edu	37	1	59132892	59132892	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:59132892C>T	ENST00000472487.1	-	16	1888	c.1849G>A	c.(1849-1851)Gca>Aca	p.A617T	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	617	MPN.				chromatin remodeling (GO:0006338)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					GGTTCTGCTGCACAGACCTAT	0.378																																						ENST00000472487.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1849-1851)Gca>Aca		Myb-like, SWIRM and MPN domains 1							81.0	79.0	80.0					1																	59132892		1896	4113	6009	SO:0001583	missense	114803				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:59132892C>T	AB067502	CCDS41343.1	1p32.1	2009-02-11	2009-02-11		ENSG00000162601	ENSG00000162601			29401	protein-coding gene	gene with protein product		612176				11572484, 17428495, 17707232	Standard	NM_001085487		Approved	KIAA1915	uc009wab.2	Q5VVJ2	OTTHUMG00000009533	ENST00000472487.1:c.1849G>A	1.37:g.59132892C>T	ENSP00000418734:p.Ala617Thr					MYSM1_ENST00000493821.1_5'UTR	p.A617T	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN			16	1888	-	all_cancers(7;9.36e-06)		617			MPN.		A8KA54|B3KX65|Q68DD3|Q6AI53|Q7Z3G8|Q96PX3	Missense_Mutation	SNP	ENST00000472487.1	37	c.1849G>A	CCDS41343.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.139495	0.77775	.	.	ENSG00000162601	ENST00000472487	T	0.55588	0.51	5.17	5.17	0.71159	.	0.052179	0.85682	D	0.000000	T	0.55305	0.1912	L	0.52011	1.625	0.48395	D	0.99964	P	0.47034	0.889	P	0.46758	0.526	T	0.52555	-0.8560	10	0.34782	T	0.22	-17.8105	17.8318	0.88685	0.0:1.0:0.0:0.0	.	617	Q5VVJ2	MYSM1_HUMAN	T	617	ENSP00000418734:A617T	ENSP00000418734:A617T	A	-	1	0	MYSM1	58905480	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.575000	0.53870	2.693000	0.91896	0.563000	0.77884	GCA		0.378	MYSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026343.2	XM_055481		5	35	0	0	0	1	0	5	35				
TRPM1	4308	broad.mit.edu	37	15	31323322	31323322	+	Silent	SNP	G	G	A	rs115529590	byFrequency	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:31323322G>A	ENST00000256552.6	-	23	3138	c.2991C>T	c.(2989-2991)gtC>gtT	p.V997V	TRPM1_ENST00000542188.1_Silent_p.V1014V|RP11-348B17.1_ENST00000558755.1_RNA|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Silent_p.V975V	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TCATGAGCACGACCAGCATGA	0.512													G|||	14	0.00279553	0.0106	0.0	5008	,	,		20634	0.0		0.0	False		,,,				2504	0.0					ENST00000542188.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(3040-3042)gtC>gtT		transient receptor potential cation channel, subfamily M, member 1		G		37,4221		1,35,2093	101.0	98.0	99.0		2925	-11.8	0.1	15	dbSNP_132	99	0,8534		0,0,4267	no	coding-synonymous	TRPM1	NM_002420.4		1,35,6360	AA,AG,GG		0.0,0.869,0.2892		975/1604	31323322	37,12755	2129	4267	6396	SO:0001819	synonymous_variant	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31323322G>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.2991C>T	15.37:g.31323322G>A						TRPM1_ENST00000397795.2_Silent_p.V975V|RP11-348B17.1_ENST00000561299.1_RNA|RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000256552.6_Silent_p.V997V	p.V1014V	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	22	3355	-		all_lung(180;1.92e-11)	975						Silent	SNP	ENST00000256552.6	37	c.3042C>T	CCDS58346.1																																																																																				0.512	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		11	56	0	0	0	1	0	11	56				
DNAH2	146754	broad.mit.edu	37	17	7660535	7660535	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:7660535C>T	ENST00000572933.1	+	13	3491	c.2031C>T	c.(2029-2031)ctC>ctT	p.L677L	DNAH2_ENST00000389173.2_Silent_p.L677L|RPL29P2_ENST00000498671.1_RNA			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	677	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATCTGCTACTCGTTGCTAGAG	0.493																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(2029-2031)ctC>ctT		dynein, axonemal, heavy chain 2							171.0	160.0	164.0					17																	7660535		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7660535C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.2031C>T	17.37:g.7660535C>T						DNAH2_ENST00000389173.2_Silent_p.L677L	p.L677L			Q9P225	DYH2_HUMAN			13	3491	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	677			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.2031C>T	CCDS32551.1																																																																																				0.493	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		27	227	0	0	0	1	0	27	227				
ALDH5A1	7915	broad.mit.edu	37	6	24515420	24515420	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:24515420C>T	ENST00000357578.3	+	5	897	c.752C>T	c.(751-753)tCa>tTa	p.S251L	ALDH5A1_ENST00000491546.1_Missense_Mutation_p.S223L|ALDH5A1_ENST00000348925.2_Missense_Mutation_p.S264L|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.S163L	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	251					acetate metabolic process (GO:0006083)|central nervous system development (GO:0007417)|galactosylceramide metabolic process (GO:0006681)|gamma-aminobutyric acid catabolic process (GO:0009450)|glucose metabolic process (GO:0006006)|glucosylceramide metabolic process (GO:0006678)|glutamate metabolic process (GO:0006536)|glutamine metabolic process (GO:0006541)|glutathione metabolic process (GO:0006749)|glycerophospholipid metabolic process (GO:0006650)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|respiratory electron transport chain (GO:0022904)|short-chain fatty acid metabolic process (GO:0046459)|succinate metabolic process (GO:0006105)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	protein homodimerization activity (GO:0042803)|succinate-semialdehyde dehydrogenase (NAD+) activity (GO:0004777)|succinate-semialdehyde dehydrogenase [NAD(P)+] activity (GO:0009013)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|Succinic acid(DB00139)|Valproic Acid(DB00313)	GGGATTCCTTCAGGTGTATAC	0.378																																						ENST00000357578.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20						c.(751-753)tCa>tTa		aldehyde dehydrogenase 5 family, member A1	Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)						136.0	130.0	132.0					6																	24515420		2203	4300	6503	SO:0001583	missense	7915				acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity	g.chr6:24515420C>T	L34820	CCDS4555.1, CCDS4556.1	6p22	2013-06-03	2008-07-31		ENSG00000112294	ENSG00000112294	1.2.1.24	"""Aldehyde dehydrogenases"""	408	protein-coding gene	gene with protein product	"""succinate-semialdehyde dehydrogenase"""	610045				7814412, 9059628	Standard	NM_001080		Approved	SSADH, SSDH	uc003nef.3	P51649	OTTHUMG00000014356	ENST00000357578.3:c.752C>T	6.37:g.24515420C>T	ENSP00000350191:p.Ser251Leu					ALDH5A1_ENST00000348925.2_Missense_Mutation_p.S264L|ALDH5A1_ENST00000491546.1_Missense_Mutation_p.S223L|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.S163L	p.S251L	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN			5	897	+			251					B2RD26|G5E949|Q546H9|Q8N3W6	Missense_Mutation	SNP	ENST00000357578.3	37	c.752C>T	CCDS4555.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.957545	0.34565	.	.	ENSG00000112294	ENST00000357578;ENST00000546278;ENST00000491546;ENST00000348925	D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78	5.17	5.17	0.71159	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.559491	0.18621	N	0.135861	D	0.83198	0.5202	L	0.41824	1.3	0.09310	N	1	P;P	0.38167	0.535;0.621	B;B	0.36766	0.232;0.149	T	0.81099	-0.1086	10	0.72032	D	0.01	-0.4092	18.8559	0.92252	0.0:1.0:0.0:0.0	.	251;264	P51649;G5E949	SSDH_HUMAN;.	L	251;163;223;264	ENSP00000350191:S251L;ENSP00000438193:S163L;ENSP00000417687:S223L;ENSP00000314649:S264L	ENSP00000314649:S264L	S	+	2	0	ALDH5A1	24623399	0.559000	0.26562	0.017000	0.16124	0.068000	0.16541	6.635000	0.74295	2.693000	0.91896	0.467000	0.42956	TCA		0.378	ALDH5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040007.2			6	68	0	0	0	1	0	6	68				
COPB1	1315	broad.mit.edu	37	11	14490983	14490983	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:14490983C>G	ENST00000249923.3	-	15	2164	c.1864G>C	c.(1864-1866)Gaa>Caa	p.E622Q	COPB1_ENST00000439561.2_Missense_Mutation_p.E622Q	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	622					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						GGTGAACATTCAGACAAGACC	0.388																																						ENST00000249923.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						c.(1864-1866)Gaa>Caa		coatomer protein complex, subunit beta 1							155.0	145.0	149.0					11																	14490983		2200	4294	6494	SO:0001583	missense	1315				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	g.chr11:14490983C>G	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"""coatomer protein complex, subunit beta"""	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.1864G>C	11.37:g.14490983C>G	ENSP00000249923:p.Glu622Gln					COPB1_ENST00000439561.2_Missense_Mutation_p.E622Q	p.E622Q	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN			15	2164	-			622					D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	37	c.1864G>C	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557450	0.65425	.	.	ENSG00000129083	ENST00000249923;ENST00000439561	T;T	0.12361	2.69;2.69	5.91	5.91	0.95273	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.13500	0.0327	N	0.26042	0.785	0.80722	D	1	B	0.09022	0.002	B	0.14023	0.01	T	0.08534	-1.0717	10	0.35671	T	0.21	0.378	20.2983	0.98569	0.0:1.0:0.0:0.0	.	622	P53618	COPB_HUMAN	Q	622	ENSP00000249923:E622Q;ENSP00000397873:E622Q	ENSP00000249923:E622Q	E	-	1	0	COPB1	14447559	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.535000	0.82014	2.802000	0.96397	0.655000	0.94253	GAA		0.388	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		4	59	0	0	0	1	0	4	59				
ADCY2	108	broad.mit.edu	37	5	7695897	7695897	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:7695897G>A	ENST00000338316.4	+	6	991	c.902G>A	c.(901-903)cGg>cAg	p.R301Q	ADCY2_ENST00000537121.1_Missense_Mutation_p.R121Q	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	301					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						GGCTTTACCCGGCTGGCAAGT	0.413																																						ENST00000338316.4																			0				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						c.(901-903)cGg>cAg		adenylate cyclase 2 (brain)							94.0	86.0	89.0					5																	7695897		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.chr5:7695897G>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.902G>A	5.37:g.7695897G>A	ENSP00000342952:p.Arg301Gln					ADCY2_ENST00000537121.1_Missense_Mutation_p.R121Q	p.R301Q	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			6	991	+			301					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.902G>A	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	26.3	4.727260	0.89390	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000515681;ENST00000537121	D;D;D	0.84800	-1.9;-1.9;-1.9	5.51	5.51	0.81932	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.78767	0.4335	N	0.17564	0.495	0.37792	D	0.927401	P;P	0.42757	0.789;0.769	P;B	0.45449	0.481;0.354	T	0.79876	-0.1618	10	0.32370	T	0.25	.	14.6068	0.68486	0.0:0.0:0.8542:0.1458	.	121;301	B7Z2C1;Q08462	.;ADCY2_HUMAN	Q	301;152;90;121	ENSP00000342952:R301Q;ENSP00000425069:R90Q;ENSP00000444803:R121Q	ENSP00000342952:R301Q	R	+	2	0	ADCY2	7748897	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	5.163000	0.64948	2.738000	0.93877	0.655000	0.94253	CGG		0.413	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		17	26	0	0	0	1	0	17	26				
H1FNT	341567	broad.mit.edu	37	12	48723537	48723537	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:48723537C>T	ENST00000335017.1	+	1	775	c.463C>T	c.(463-465)Cgg>Tgg	p.R155W		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	155	Arg-rich.				chromosome condensation (GO:0030261)|multicellular organismal development (GO:0007275)|sperm chromatin condensation (GO:0035092)|spermatid nucleus elongation (GO:0007290)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						CCGGAGCTCCCGGAGGCGCCG	0.711																																						ENST00000335017.1																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						c.(463-465)Cgg>Tgg		H1 histone family, member N, testis-specific							7.0	9.0	8.0					12																	48723537		2110	4129	6239	SO:0001583	missense	341567				chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding	g.chr12:48723537C>T	AY302593	CCDS8762.1	12q13.11	2011-01-27				ENSG00000187166		"""Histones / Replication-independent"""	24893	protein-coding gene	gene with protein product						15710904	Standard	NM_181788		Approved	HANP1, H1T2	uc001rrm.3	Q75WM6		ENST00000335017.1:c.463C>T	12.37:g.48723537C>T	ENSP00000334805:p.Arg155Trp						p.R155W	NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN			1	775	+			155			Arg-rich.		Q147U8|Q5GKZ5|Q7Z694	Missense_Mutation	SNP	ENST00000335017.1	37	c.463C>T	CCDS8762.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.903431	0.92035	.	.	ENSG00000187166	ENST00000335017	T	0.21734	1.99	4.83	3.88	0.44766	.	0.322536	0.17293	N	0.179566	T	0.38188	0.1031	L	0.46157	1.445	0.31316	N	0.686601	D	0.89917	1.0	D	0.87578	0.998	T	0.27905	-1.0060	10	0.59425	D	0.04	-6.4307	12.7856	0.57502	0.1637:0.8363:0.0:0.0	.	155	Q75WM6	H1FNT_HUMAN	W	155	ENSP00000334805:R155W	ENSP00000334805:R155W	R	+	1	2	H1FNT	47009804	0.004000	0.15560	0.902000	0.35471	0.078000	0.17371	1.198000	0.32223	2.391000	0.81399	0.650000	0.86243	CGG		0.711	H1FNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406516.1	NM_181788		6	11	0	0	0	1	0	6	11				
TRIM23	373	broad.mit.edu	37	5	64913964	64913964	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:64913964C>T	ENST00000231524.9	-	2	571	c.200G>A	c.(199-201)gGa>gAa	p.G67E	TRIM23_ENST00000381018.3_Missense_Mutation_p.G67E|TRIM23_ENST00000274327.7_Missense_Mutation_p.G67E	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	67					GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		GATTGCTCTTCCATGAAGAGG	0.413																																						ENST00000231524.9																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28						c.(199-201)gGa>gAa		tripartite motif containing 23							132.0	122.0	126.0					5																	64913964		2203	4300	6503	SO:0001583	missense	373				interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:64913964C>T	L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	660	protein-coding gene	gene with protein product		601747	"""ADP-ribosylation factor domain protein 1, 64kDa"", ""tripartite motif-containing 23"""	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.200G>A	5.37:g.64913964C>T	ENSP00000231524:p.Gly67Glu					TRIM23_ENST00000381018.3_Missense_Mutation_p.G67E|TRIM23_ENST00000274327.7_Missense_Mutation_p.G67E	p.G67E	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN		Lung(70;0.00473)	2	571	-		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)	67					Q9BZY4|Q9BZY5	Missense_Mutation	SNP	ENST00000231524.9	37	c.200G>A	CCDS3987.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096136	0.76870	.	.	ENSG00000113595	ENST00000231524;ENST00000381018;ENST00000274327	D;D;D	0.92446	-3.04;-3.04;-3.04	5.37	5.37	0.77165	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	D	0.89715	0.6795	L	0.42487	1.325	0.80722	D	1	B;B;B	0.31459	0.218;0.2;0.324	B;B;B	0.33392	0.053;0.142;0.163	D	0.88504	0.3084	10	0.49607	T	0.09	.	17.2725	0.87106	0.0:1.0:0.0:0.0	.	67;67;67	P36406;P36406-2;P36406-3	TRI23_HUMAN;.;.	E	67	ENSP00000231524:G67E;ENSP00000370406:G67E;ENSP00000274327:G67E	ENSP00000231524:G67E	G	-	2	0	TRIM23	64949720	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.437000	0.80417	2.519000	0.84933	0.313000	0.20887	GGA		0.413	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215058.2	NM_001656		4	55	0	0	0	1	0	4	55				
RUSC2	9853	broad.mit.edu	37	9	35561242	35561242	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr9:35561242G>A	ENST00000455600.1	+	12	4983	c.4414G>A	c.(4414-4416)Gac>Aac	p.D1472N	FAM166B_ENST00000492890.1_5'Flank	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1472	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CCACAAAGGAGACATCCTACG	0.652																																						ENST00000455600.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(4414-4416)Gac>Aac		RUN and SH3 domain containing 2							56.0	63.0	61.0					9																	35561242		2203	4300	6503	SO:0001583	missense	9853					cytosol		g.chr9:35561242G>A	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.4414G>A	9.37:g.35561242G>A	ENSP00000393922:p.Asp1472Asn						p.D1472N	NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		12	4983	+			1472			SH3.		A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	c.4414G>A	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.001494	0.93227	.	.	ENSG00000198853	ENST00000361226;ENST00000455600	T;T	0.18502	2.21;2.21	5.39	5.39	0.77823	Src homology-3 domain (3);Variant SH3 (1);	0.049087	0.85682	D	0.000000	T	0.52256	0.1723	M	0.93638	3.44	0.80722	D	1	D	0.71674	0.998	D	0.67725	0.953	T	0.64769	-0.6329	10	0.87932	D	0	-15.7405	16.6501	0.85187	0.0:0.0:1.0:0.0	.	1472	Q8N2Y8	RUSC2_HUMAN	N	1472	ENSP00000355177:D1472N;ENSP00000393922:D1472N	ENSP00000355177:D1472N	D	+	1	0	RUSC2	35551242	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	8.808000	0.91939	2.679000	0.91253	0.650000	0.86243	GAC		0.652	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		8	80	0	0	0	1	0	8	80				
HDGFRP3	50810	broad.mit.edu	37	15	83826306	83826306	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:83826306G>A	ENST00000299633.4	-	4	923	c.320C>T	c.(319-321)tCt>tTt	p.S107F		NM_016073.3	NP_057157.1	Q9Y3E1	HDGR3_HUMAN		107					cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						AGTTTCTGAAGAGCTCTGTTG	0.348																																						ENST00000299633.4																			0				kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						c.(319-321)tCt>tTt									85.0	77.0	80.0					15																	83826306		2203	4300	6503	SO:0001583	missense	0				cell proliferation	nucleus	growth factor activity	g.chr15:83826306G>A																												ENST00000299633.4:c.320C>T	15.37:g.83826306G>A	ENSP00000299633:p.Ser107Phe						p.S107F	NM_016073.3	NP_057157.1	Q9Y3E1	HDGR3_HUMAN			4	923	-			107						Missense_Mutation	SNP	ENST00000299633.4	37	c.320C>T	CCDS32314.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963143	0.53507	.	.	ENSG00000166503	ENST00000299633	T	0.73789	-0.78	5.22	5.22	0.72569	.	0.130021	0.56097	D	0.000028	T	0.74099	0.3672	L	0.57536	1.79	0.46725	D	0.999172	B	0.20671	0.047	B	0.24269	0.052	T	0.71361	-0.4616	10	0.54805	T	0.06	.	19.1507	0.93487	0.0:0.0:1.0:0.0	.	107	Q9Y3E1	HDGR3_HUMAN	F	107	ENSP00000299633:S107F	ENSP00000299633:S107F	S	-	2	0	AC024270.1	81617310	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.062000	0.76706	2.599000	0.87857	0.563000	0.77884	TCT		0.348	HDGFRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419898.1			6	22	0	0	0	1	0	6	22				
FKBP1B	2281	broad.mit.edu	37	2	24285898	24285898	+	Intron	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:24285898C>G	ENST00000380986.4	+	4	334				FKBP1B_ENST00000380991.4_Missense_Mutation_p.L70V|FKBP1B_ENST00000452109.1_Intron	NM_004116.3|NM_054033.2	NP_004107.1|NP_473374.1	P68106	FKB1B_HUMAN	FK506 binding protein 1B, 12.6 kDa						'de novo' protein folding (GO:0006458)|calcium ion transmembrane transport (GO:0070588)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|chaperone-mediated protein folding (GO:0061077)|cytosolic calcium ion homeostasis (GO:0051480)|insulin secretion (GO:0030073)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neuronal action potential propagation (GO:0019227)|positive regulation of axon regeneration (GO:0048680)|positive regulation of sequestering of calcium ion (GO:0051284)|protein maturation by protein folding (GO:0022417)|protein peptidyl-prolyl isomerization (GO:0000413)|protein refolding (GO:0042026)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to redox state (GO:0051775)|response to vitamin E (GO:0033197)|smooth muscle contraction (GO:0006939)|T cell proliferation (GO:0042098)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	calcium channel inhibitor activity (GO:0019855)|cyclic nucleotide binding (GO:0030551)|FK506 binding (GO:0005528)|ion channel binding (GO:0044325)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|receptor binding (GO:0005102)			lung(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGGGTCCTCTTTCTCCTCT	0.488																																						ENST00000380991.4																			0				lung(2)	2						c.(208-210)Ctt>Gtt		FK506 binding protein 1B, 12.6 kDa							91.0	71.0	78.0					2																	24285898		2203	4300	6503	SO:0001627	intron_variant	2281				'de novo' protein folding|negative regulation of heart rate|negative regulation of protein phosphatase type 2B activity|protein maturation by protein folding|protein refolding|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|regulation of ryanodine-sensitive calcium-release channel activity|response to redox state	calcium channel complex|sarcoplasmic reticulum membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor binding	g.chr2:24285898C>G	D38037	CCDS1706.1, CCDS33153.1	2p23.3	2013-03-20	2002-08-29		ENSG00000119782	ENSG00000119782			3712	protein-coding gene	gene with protein product	"""calstabin 2"""	600620	"""FK506-binding protein 1B (12.6 kD)"""	FKBP1L		7513996	Standard	NM_004116		Approved	OTK4, FKBP12.6, PPIase, FKBP9	uc002rer.3	P68106	OTTHUMG00000151889	ENST00000380986.4:c.199-36C>G	2.37:g.24285898C>G						FKBP1B_ENST00000452109.1_Intron|FKBP1B_ENST00000380986.4_Intron	p.L70V			P68106	FKB1B_HUMAN			4	357	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		0			PPIase FKBP-type.		Q13664|Q16645|Q53TM2|Q9BQ40	Missense_Mutation	SNP	ENST00000380986.4	37	c.208C>G	CCDS1706.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.386137	0.25031	.	.	ENSG00000119782	ENST00000380991	T	0.41400	1.0	5.29	4.4	0.53042	.	.	.	.	.	T	0.30572	0.0769	.	.	.	0.80722	D	1	B	0.09022	0.002	B	0.01281	0.0	T	0.09314	-1.0680	8	0.41790	T	0.15	.	9.186	0.37172	0.0:0.9015:0.0:0.0985	.	70	P68106-2	.	V	70	ENSP00000370379:L70V	ENSP00000370379:L70V	L	+	1	0	FKBP1B	24139402	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.048000	0.30379	2.631000	0.89168	0.563000	0.77884	CTT		0.488	FKBP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207622.1	NM_004116		4	24	0	0	0	1	0	4	24				
AP3M1	26985	broad.mit.edu	37	10	75883653	75883653	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:75883653C>T	ENST00000355264.4	-	9	1483	c.1172G>A	c.(1171-1173)cGt>cAt	p.R391H	RP11-178G16.5_ENST00000599110.1_lincRNA|AP3M1_ENST00000372745.1_Missense_Mutation_p.R391H	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	391	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|protein targeting to lysosome (GO:0006622)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	Rab GTPase binding (GO:0017137)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					CATGTCCAAACGGTTTACTTT	0.353																																						ENST00000355264.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13						c.(1171-1173)cGt>cAt		adaptor-related protein complex 3, mu 1 subunit							157.0	148.0	151.0					10																	75883653		2203	4300	6503	SO:0001583	missense	26985				protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding	g.chr10:75883653C>T	AF092092	CCDS7342.1	10q22.1-q22.3	2008-07-07			ENSG00000185009	ENSG00000185009			569	protein-coding gene	gene with protein product		610366				10024875	Standard	NM_207012		Approved		uc001jwh.3	Q9Y2T2	OTTHUMG00000018497	ENST00000355264.4:c.1172G>A	10.37:g.75883653C>T	ENSP00000347408:p.Arg391His					AP3M1_ENST00000372745.1_Missense_Mutation_p.R391H	p.R391H	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN			9	1483	-	Prostate(51;0.0112)		391			MHD.		Q5JQ12|Q9H5L2	Missense_Mutation	SNP	ENST00000355264.4	37	c.1172G>A	CCDS7342.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.549357	0.86127	.	.	ENSG00000185009	ENST00000355264;ENST00000372745	T;T	0.19806	2.12;2.12	5.8	4.89	0.63831	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.48223	0.1488	M	0.81942	2.565	0.80722	D	1	P;D	0.89917	0.95;1.0	P;D	0.74023	0.479;0.982	T	0.49184	-0.8966	10	0.59425	D	0.04	-0.572	15.2847	0.73819	0.0:0.9318:0.0:0.0682	.	337;391	B4DRN6;Q9Y2T2	.;AP3M1_HUMAN	H	391	ENSP00000347408:R391H;ENSP00000361831:R391H	ENSP00000347408:R391H	R	-	2	0	AP3M1	75553659	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.731000	0.68554	2.744000	0.94065	0.655000	0.94253	CGT		0.353	AP3M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048747.1			18	68	0	0	0	1	0	18	68				
IGSF9B	22997	broad.mit.edu	37	11	133789788	133789788	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:133789788G>T	ENST00000321016.8	-	18	4062	c.3832C>A	c.(3832-3834)Ctg>Atg	p.L1278M	IGSF9B_ENST00000533871.2_Missense_Mutation_p.L1278M			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1278	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCGGTGGCCAGAGTGGTGAAG	0.677																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(3832-3834)Ctg>Atg		immunoglobulin superfamily, member 9B							24.0	32.0	29.0					11																	133789788		1917	4113	6030	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133789788G>T	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.3832C>A	11.37:g.133789788G>T	ENSP00000317980:p.Leu1278Met					IGSF9B_ENST00000533871.2_Missense_Mutation_p.L1278M	p.L1278M			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	18	4062	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1278			Pro-rich.		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.3832C>A		.	.	.	.	.	.	.	.	.	.	G	11.32	1.604512	0.28623	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.66638	0.11;-0.22	4.76	4.76	0.60689	.	0.000000	0.34067	N	0.004284	T	0.46268	0.1384	N	0.08118	0	0.25700	N	0.985593	P	0.50943	0.94	B	0.41571	0.36	T	0.49606	-0.8922	10	0.59425	D	0.04	.	12.0779	0.53655	0.0842:0.0:0.9158:0.0	.	1278	Q9UPX0	TUTLB_HUMAN	M	1278;1120	ENSP00000317980:L1278M;ENSP00000436552:L1120M	ENSP00000317980:L1278M	L	-	1	2	IGSF9B	133294998	0.734000	0.28142	0.981000	0.43875	0.752000	0.42762	1.044000	0.30329	2.484000	0.83849	0.555000	0.69702	CTG		0.677	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		5	30	1	0	0.000602214	1	0.000623722	5	30				
F9	2158	broad.mit.edu	37	X	138630629	138630629	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:138630629C>T	ENST00000218099.2	+	5	506	c.499C>T	c.(499-501)Cag>Tag	p.Q167*	F9_ENST00000394090.2_Nonsense_Mutation_p.Q129*	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	167	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.		Q -> H (in HEMB; mild).		blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	TGCAGAAAACCAGAAGTCCTG	0.348																																						ENST00000218099.2																			0				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	GRCh37	CM045763	F9	M		c.(499-501)Cag>Tag		coagulation factor IX	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						128.0	110.0	116.0					X																	138630629		2203	4300	6503	SO:0001587	stop_gained	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138630629C>T	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.499C>T	X.37:g.138630629C>T	ENSP00000218099:p.Gln167*					F9_ENST00000394090.2_Nonsense_Mutation_p.Q129*	p.Q167*	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN			5	506	+	Acute lymphoblastic leukemia(192;0.000127)		167		Q -> H (in HEMB; mild).	EGF-like 2.		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Nonsense_Mutation	SNP	ENST00000218099.2	37	c.499C>T	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	C	9.894	1.205144	0.22205	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	.	.	.	5.08	3.14	0.36123	.	0.377447	0.28236	N	0.016099	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.7867	0.23677	0.3522:0.479:0.1688:0.0	.	.	.	.	X	167;129	.	.	Q	+	1	0	F9	138458295	0.948000	0.32251	0.999000	0.59377	0.197000	0.23852	0.487000	0.22356	1.015000	0.39444	-0.351000	0.07748	CAG		0.348	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			5	55	0	0	0	1	0	5	55				
EIF1	10209	broad.mit.edu	37	17	39846029	39846029	+	Splice_Site	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:39846029G>C	ENST00000469257.1	+	2	177		c.e2-1		EIF1_ENST00000591776.1_Splice_Site|JUP_ENST00000540235.1_Intron|EIF1_ENST00000310837.4_Intron			P41567	EIF1_HUMAN	eukaryotic translation initiation factor 1						dosage compensation by inactivation of X chromosome (GO:0009048)|regulation of translational initiation (GO:0006446)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|skin(1)	5		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TTTTTTTTCAGACCCCTTTGC	0.483											OREG0024409	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(176;1692 2837 16734 17588)	ENST00000469257.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|skin(1)	5						c.e2-1		eukaryotic translation initiation factor 1							46.0	45.0	45.0					17																	39846029		2202	4300	6502	SO:0001630	splice_region_variant	10209				regulation of translational initiation|response to stress	cytoplasm	translation initiation factor activity	g.chr17:39846029G>C	AF083441	CCDS11403.1	17q21.2	2006-02-02			ENSG00000173812	ENSG00000173812			3249	protein-coding gene	gene with protein product						7904817, 10347211	Standard	NM_005801		Approved	EIF-1, ISO1, A121, SUI1, EIF1A	uc002hxj.3	P41567	OTTHUMG00000133492	ENST00000469257.1:c.32-1G>C	17.37:g.39846029G>C			OREG0024409	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	JUP_ENST00000540235.1_Intron|EIF1_ENST00000591776.1_Splice_Site|EIF1_ENST00000310837.4_Intron				P41567	EIF1_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		2	177	+		Breast(137;0.000307)						Q9UNQ9	Splice_Site	SNP	ENST00000469257.1	37		CCDS11403.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698695	0.68501	.	.	ENSG00000173812	ENST00000469257	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8739	0.92327	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EIF1	37099555	1.000000	0.71417	0.997000	0.53966	0.692000	0.40212	9.581000	0.98210	2.690000	0.91761	0.462000	0.41574	.		0.483	EIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257390.1	NM_005801	Intron	5	55	0	0	0	1	0	5	55				
C2orf16	84226	broad.mit.edu	37	2	27803866	27803866	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:27803866G>C	ENST00000408964.2	+	1	4478	c.4427G>C	c.(4426-4428)aGa>aCa	p.R1476T	ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000556601.1_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000379717.1_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000355467.4_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1476						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CAGCCTCTGAGAACTGTTCAA	0.473																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(4426-4428)aGa>aCa		chromosome 2 open reading frame 16							101.0	101.0	101.0					2																	27803866		1840	4103	5943	SO:0001583	missense	84226							g.chr2:27803866G>C	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.4427G>C	2.37:g.27803866G>C	ENSP00000386190:p.Arg1476Thr						p.R1476T	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN			1	4478	+	Acute lymphoblastic leukemia(172;0.155)		1476					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.4427G>C	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	G	9.954	1.221057	0.22457	.	.	ENSG00000221843	ENST00000408964	T	0.47528	0.84	3.55	1.62	0.23740	.	.	.	.	.	T	0.21631	0.0521	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24905	-1.0147	9	0.12103	T	0.63	.	5.1348	0.14928	0.3003:0.0:0.6997:0.0	.	1476	Q68DN1	CB016_HUMAN	T	1476	ENSP00000386190:R1476T	ENSP00000386190:R1476T	R	+	2	0	C2orf16	27657370	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.105000	0.15333	0.431000	0.26258	0.462000	0.41574	AGA		0.473	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		18	139	0	0	0	1	0	18	139				
KRT6B	3854	broad.mit.edu	37	12	52845724	52845724	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:52845724G>C	ENST00000252252.3	-	1	186	c.139C>G	c.(139-141)Ctg>Gtg	p.L47V		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	47	Head.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		GCGCCACCCAGGCCACCACTG	0.667																																						ENST00000252252.3																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40						c.(139-141)Ctg>Gtg		keratin 6B							61.0	65.0	63.0					12																	52845724		2203	4299	6502	SO:0001583	missense	3854				ectoderm development	keratin filament	structural constituent of cytoskeleton	g.chr12:52845724G>C	BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6444	protein-coding gene	gene with protein product		148042	"""keratin-like 1 (a type II keratin sequence)"""	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.139C>G	12.37:g.52845724G>C	ENSP00000252252:p.Leu47Val						p.L47V	NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.083)	1	186	-			47			Head.		P48669	Missense_Mutation	SNP	ENST00000252252.3	37	c.139C>G	CCDS8828.1	.	.	.	.	.	.	.	.	.	.	G	1.621	-0.521450	0.04171	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	D	0.87412	-2.25	3.07	-1.46	0.08800	.	1.350910	0.05011	N	0.470981	T	0.78246	0.4253	L	0.47716	1.5	0.09310	N	1	B	0.22003	0.063	B	0.11329	0.006	T	0.55366	-0.8152	10	0.17369	T	0.5	.	0.9802	0.01434	0.2047:0.1352:0.3553:0.3048	.	47	P04259	K2C6B_HUMAN	V	47	ENSP00000252252:L47V	ENSP00000252252:L47V	L	-	1	2	KRT6B	51131991	0.000000	0.05858	0.000000	0.03702	0.731000	0.41821	-0.408000	0.07169	-0.295000	0.08960	0.298000	0.19748	CTG		0.667	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1	NM_005555		5	242	0	0	0	1	0	5	242				
STAT1	6772	broad.mit.edu	37	2	191844515	191844515	+	Silent	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:191844515G>T	ENST00000361099.3	-	20	2097	c.1710C>A	c.(1708-1710)ctC>ctA	p.L570L	STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392323.2_Silent_p.L572L|STAT1_ENST00000392322.3_Silent_p.L570L|STAT1_ENST00000409465.1_Silent_p.L570L	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	570					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			TCCAGAGAGGGAGCAGGTGTT	0.388																																						ENST00000361099.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1708-1710)ctC>ctA		signal transducer and activator of transcription 1, 91kDa	Fludarabine(DB01073)						97.0	100.0	99.0					2																	191844515		2203	4300	6503	SO:0001819	synonymous_variant	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191844515G>T		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.1710C>A	2.37:g.191844515G>T						STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Silent_p.L570L|STAT1_ENST00000392322.3_Silent_p.L570L|STAT1_ENST00000392323.2_Silent_p.L572L	p.L570L	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		20	2097	-			570					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Silent	SNP	ENST00000361099.3	37	c.1710C>A	CCDS2309.1																																																																																				0.388	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		4	28	1	0	0.00909568	1	0.00922289	4	28				
SERHL2	253190	broad.mit.edu	37	22	42968533	42968533	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:42968533G>T	ENST00000327678.5	+	11	925	c.823G>T	c.(823-825)Gag>Tag	p.E275*	RRP7B_ENST00000357802.2_RNA|SERHL2_ENST00000335879.5_Nonsense_Mutation_p.E211*|SERHL2_ENST00000407614.4_Nonsense_Mutation_p.E95*|SERHL2_ENST00000340239.4_3'UTR	NM_014509.3	NP_055324.2	Q9NQF3	SERHL_HUMAN	serine hydrolase-like 2	0							hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1)	8						CACCCTCAAAGAGGTAAGACG	0.527																																						ENST00000327678.5																			0				breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1)	8						c.(823-825)Gag>Tag		serine hydrolase-like 2							58.0	54.0	55.0					22																	42968533		2203	4299	6502	SO:0001587	stop_gained	253190					perinuclear region of cytoplasm|peroxisome	hydrolase activity	g.chr22:42968533G>T		CCDS14037.1, CCDS63498.1	22q13	2005-08-09			ENSG00000183569	ENSG00000183569			29446	protein-coding gene	gene with protein product							Standard	NM_014509		Approved		uc003bcr.3	Q9H4I8	OTTHUMG00000150892	ENST00000327678.5:c.823G>T	22.37:g.42968533G>T	ENSP00000331376:p.Glu275*					SERHL2_ENST00000340239.4_3'UTR|RRP7B_ENST00000357802.2_RNA|SERHL2_ENST00000335879.5_Nonsense_Mutation_p.E211*|SERHL2_ENST00000407614.4_Nonsense_Mutation_p.E95*	p.E275*	NM_014509.3	NP_055324.2	Q9H4I8	SEHL2_HUMAN			11	925	+			275					Q5JZ95|Q9UH21	Nonsense_Mutation	SNP	ENST00000327678.5	37	c.823G>T	CCDS14037.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878562	0.51801	.	.	ENSG00000183569	ENST00000327678;ENST00000356720;ENST00000407614;ENST00000335879	.	.	.	2.27	1.24	0.21308	.	0.254375	0.32593	N	0.005895	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	6.5109	0.22222	0.1537:0.0:0.8463:0.0	.	.	.	.	X	275;95;95;211	.	ENSP00000331376:E275X	E	+	1	0	SERHL2	41298477	0.972000	0.33761	0.721000	0.30653	0.054000	0.15201	1.973000	0.40550	0.510000	0.28216	-0.339000	0.08088	GAG		0.527	SERHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320454.1	NM_014509		5	73	1	0	0.014758	1	0.0149296	5	73				
MED13L	23389	broad.mit.edu	37	12	116460310	116460310	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:116460310G>A	ENST00000281928.3	-	5	782	c.576C>T	c.(574-576)atC>atT	p.I192I		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	192						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GCTCCTCATTGATCAAATAAA	0.463																																						ENST00000281928.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(574-576)atC>atT		mediator complex subunit 13-like							120.0	100.0	107.0					12																	116460310		2203	4300	6503	SO:0001819	synonymous_variant	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116460310G>A	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.576C>T	12.37:g.116460310G>A							p.I192I	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	5	782	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		192					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Silent	SNP	ENST00000281928.3	37	c.576C>T	CCDS9177.1																																																																																				0.463	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			4	24	0	0	0	1	0	4	24				
FAM179B	23116	broad.mit.edu	37	14	45432775	45432775	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:45432775C>G	ENST00000361577.3	+	1	1365	c.1151C>G	c.(1150-1152)cCt>cGt	p.P384R	KLHL28_ENST00000553817.1_5'Flank|KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000382233.2_Missense_Mutation_p.P384R|KLHL28_ENST00000355081.2_5'Flank|FAM179B_ENST00000361462.2_Missense_Mutation_p.P384R	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	384										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AAATTTAACCCTAGTTCTACT	0.423																																						ENST00000361462.2																			0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(1150-1152)cCt>cGt		family with sequence similarity 179, member B							71.0	75.0	73.0					14																	45432775		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45432775C>G	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.1151C>G	14.37:g.45432775C>G	ENSP00000355045:p.Pro384Arg					FAM179B_ENST00000382233.2_Missense_Mutation_p.P384R|FAM179B_ENST00000361577.3_Missense_Mutation_p.P384R	p.P384R			Q9Y4F4	F179B_HUMAN			1	1334	+			384					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.1151C>G	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.599474	0.46318	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.59772	0.24;0.24;0.24	4.58	4.58	0.56647	Armadillo-like helical (1);Armadillo-type fold (1);	0.188403	0.36628	N	0.002482	T	0.56761	0.2007	N	0.19112	0.55	0.35167	D	0.771197	P;D;D;P	0.76494	0.472;0.999;0.981;0.472	B;D;P;B	0.68943	0.217;0.961;0.788;0.217	T	0.64219	-0.6459	10	0.40728	T	0.16	-14.8248	8.4904	0.33098	0.0:0.8967:0.0:0.1033	.	384;384;384;384	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	R	384	ENSP00000355045:P384R;ENSP00000354917:P384R;ENSP00000371668:P384R	ENSP00000354917:P384R	P	+	2	0	FAM179B	44502525	0.988000	0.35896	0.998000	0.56505	0.988000	0.76386	2.418000	0.44662	2.365000	0.80145	0.555000	0.69702	CCT		0.423	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		4	65	0	0	0	1	0	4	65				
EPB41L2	2037	broad.mit.edu	37	6	131179290	131179290	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:131179290C>G	ENST00000337057.3	-	19	3185	c.3004G>C	c.(3004-3006)Gaa>Caa	p.E1002Q	EPB41L2_ENST00000368128.2_Missense_Mutation_p.E1002Q|EPB41L2_ENST00000530481.1_Missense_Mutation_p.E849Q|EPB41L2_ENST00000530757.1_Missense_Mutation_p.E198Q|EPB41L2_ENST00000529208.1_Missense_Mutation_p.E932Q|EPB41L2_ENST00000445890.2_Missense_Mutation_p.E744Q|EPB41L2_ENST00000528282.1_Missense_Mutation_p.E744Q|EPB41L2_ENST00000527411.1_Missense_Mutation_p.E932Q|EPB41L2_ENST00000531410.1_Missense_Mutation_p.E123Q|EPB41L2_ENST00000524581.1_Missense_Mutation_p.E380Q|EPB41L2_ENST00000525193.1_Missense_Mutation_p.E703Q|EPB41L2_ENST00000392427.3_Missense_Mutation_p.E670Q|EPB41L2_ENST00000527659.1_Missense_Mutation_p.E808Q|EPB41L2_ENST00000525271.1_Missense_Mutation_p.E670Q	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	1002	C-terminal (CTD).				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TCTTCCCCTTCCTCAGCCAAC	0.502																																						ENST00000337057.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44						c.(3004-3006)Gaa>Caa		erythrocyte membrane protein band 4.1-like 2							360.0	251.0	288.0					6																	131179290		2203	4300	6503	SO:0001583	missense	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131179290C>G	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.3004G>C	6.37:g.131179290C>G	ENSP00000338481:p.Glu1002Gln					EPB41L2_ENST00000525193.1_Missense_Mutation_p.E703Q|EPB41L2_ENST00000527659.1_Missense_Mutation_p.E808Q|EPB41L2_ENST00000392427.3_Missense_Mutation_p.E670Q|EPB41L2_ENST00000527411.1_Missense_Mutation_p.E932Q|EPB41L2_ENST00000525271.1_Missense_Mutation_p.E670Q|EPB41L2_ENST00000530757.1_Missense_Mutation_p.E198Q|EPB41L2_ENST00000530481.1_Missense_Mutation_p.E849Q|EPB41L2_ENST00000524581.1_Missense_Mutation_p.E380Q|EPB41L2_ENST00000529208.1_Missense_Mutation_p.E932Q|EPB41L2_ENST00000445890.2_Missense_Mutation_p.E744Q|EPB41L2_ENST00000368128.2_Missense_Mutation_p.E1002Q|EPB41L2_ENST00000531410.1_Missense_Mutation_p.E123Q|EPB41L2_ENST00000528282.1_Missense_Mutation_p.E744Q	p.E1002Q	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	19	3185	-	Breast(56;0.0639)		1002			Carboxyl-terminal (CTD).		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	37	c.3004G>C	CCDS5141.1	.	.	.	.	.	.	.	.	.	.	C	31	5.087762	0.94100	.	.	ENSG00000079819	ENST00000531410;ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000530757;ENST00000392427;ENST00000368128;ENST00000527411;ENST00000524581;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208	T;D;D;D;D;T;D;D;D;D;D;D;D;D	0.87809	-1.3;-1.97;-2.02;-1.97;-2.11;-1.33;-1.89;-2.11;-2.3;-1.58;-1.89;-1.9;-1.88;-2.3	6.16	6.16	0.99307	.	0.044723	0.85682	D	0.000000	D	0.92355	0.7574	L	0.61036	1.89	0.58432	D	0.999995	D;D;D;D;D;D	0.89917	0.991;0.987;1.0;0.999;0.999;0.998	D;P;D;D;D;D	0.83275	0.956;0.827;0.996;0.995;0.994;0.961	D	0.91195	0.4987	10	0.59425	D	0.04	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	670;849;1002;744;380;169	B4DHI8;E9PPD9;O43491;Q68DV2;Q6R5J7;Q9UG62	.;.;E41L2_HUMAN;.;.;.	Q	123;744;849;744;1002;198;670;1002;932;380;670;703;808;932	ENSP00000434596:E123Q;ENSP00000434308:E744Q;ENSP00000434576:E849Q;ENSP00000402041:E744Q;ENSP00000338481:E1002Q;ENSP00000436349:E198Q;ENSP00000376222:E670Q;ENSP00000357110:E1002Q;ENSP00000436348:E932Q;ENSP00000437207:E380Q;ENSP00000432803:E670Q;ENSP00000431988:E703Q;ENSP00000431647:E808Q;ENSP00000436641:E932Q	ENSP00000338481:E1002Q	E	-	1	0	EPB41L2	131220983	1.000000	0.71417	0.986000	0.45419	0.860000	0.49131	7.463000	0.80869	2.937000	0.99478	0.650000	0.86243	GAA		0.502	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			21	148	0	0	0	1	0	21	148				
OR2T3	343173	broad.mit.edu	37	1	248637188	248637188	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:248637188C>T	ENST00000359594.2	+	1	562	c.537C>T	c.(535-537)atC>atT	p.I179I		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	179						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTAGGAAAATCCTGAGTTTTT	0.522																																						ENST00000359594.2																			0				breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31						c.(535-537)atC>atT		olfactory receptor, family 2, subfamily T, member 3							57.0	52.0	53.0					1																	248637188		2167	4276	6443	SO:0001819	synonymous_variant	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248637188C>T		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.537C>T	1.37:g.248637188C>T							p.I179I	NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	562	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		179					B2RNJ1	Silent	SNP	ENST00000359594.2	37	c.537C>T	CCDS31117.1																																																																																				0.522	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		4	131	0	0	0	1	0	4	131				
HDAC7	51564	broad.mit.edu	37	12	48189070	48189070	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:48189070C>T	ENST00000427332.2	-	11	1220	c.1064G>A	c.(1063-1065)cGg>cAg	p.R355Q	HDAC7_ENST00000552960.1_Missense_Mutation_p.R377Q|HDAC7_ENST00000380610.4_Missense_Mutation_p.R411Q|HDAC7_ENST00000354334.3_Missense_Mutation_p.R357Q|HDAC7_ENST00000080059.7_Missense_Mutation_p.R394Q			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	355	Transcription repression 2. {ECO:0000250}.				cell-cell junction assembly (GO:0007043)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		TGAGCGAGTCCGGCTCAGTGG	0.677																																						ENST00000080059.7																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1180-1182)cGg>cAg		histone deacetylase 7							23.0	28.0	27.0					12																	48189070		2197	4295	6492	SO:0001583	missense	51564				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr12:48189070C>T	AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273			14067	protein-coding gene	gene with protein product		606542	"""histone deacetylase 7A"""	HDAC7A		10922406, 10640276	Standard	NM_015401		Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968	ENST00000427332.2:c.1064G>A	12.37:g.48189070C>T	ENSP00000404394:p.Arg355Gln					HDAC7_ENST00000427332.2_Missense_Mutation_p.R355Q|HDAC7_ENST00000380610.4_Missense_Mutation_p.R411Q|HDAC7_ENST00000354334.3_Missense_Mutation_p.R357Q|HDAC7_ENST00000552960.1_Missense_Mutation_p.R377Q	p.R394Q	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN		GBM - Glioblastoma multiforme(48;0.137)	11	1180	-			355			Transcription repression 2 (By similarity).		B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Missense_Mutation	SNP	ENST00000427332.2	37	c.1181G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.315789	0.95655	.	.	ENSG00000061273	ENST00000080059;ENST00000354334;ENST00000552960;ENST00000380610;ENST00000427332	T;T;T;T;T	0.72725	-0.17;-0.68;-0.17;-0.24;-0.14	4.37	4.37	0.52481	.	0.063541	0.64402	D	0.000011	D	0.82416	0.5032	M	0.69358	2.11	0.58432	D	0.99999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	D	0.84790	0.0778	10	0.87932	D	0	.	16.0096	0.80391	0.0:1.0:0.0:0.0	.	394;377;357	Q8WUI4-5;Q8WUI4-6;Q8WUI4-7	.;.;.	Q	394;357;377;411;355	ENSP00000080059:R394Q;ENSP00000351326:R357Q;ENSP00000448532:R377Q;ENSP00000369984:R411Q;ENSP00000404394:R355Q	ENSP00000080059:R394Q	R	-	2	0	HDAC7	46475337	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.234000	0.78134	2.418000	0.82041	0.561000	0.74099	CGG		0.677	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328804.2			20	41	0	0	0	1	0	20	41				
CROCCP3	114819	broad.mit.edu	37	1	16795169	16795170	+	lincRNA	INS	-	-	TG	rs370248380|rs3072447	byFrequency	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:16795169_16795170insTG	ENST00000457898.1	+	0	6490				CROCCP3_ENST00000263511.4_RNA																							TTGAAGGTGACTGGTCACACCA	0.46														3485	0.695887	0.8918	0.7118	5008	,	,		19736	0.4028		0.6938	False		,,,				2504	0.7239					ENST00000263511.4																			0																																																			0							g.chr1:16795169_16795170insTG																													1.37:g.16795170_16795171dupTG								NR_023386.1						0	4128_4129	-									RNA	INS	ENST00000457898.1	37																																																																																						0.460	RP4-798A10.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000006685.1			3	3						3	3	---	---	---	---
RP11-473A10.2	0	broad.mit.edu	37	1	18045853	18045871	+	lincRNA	DEL	GGGGGCTGGATATGTTGCT	GGGGGCTGGATATGTTGCT	-	rs551832359|rs11271717|rs150879202|rs564254907|rs113892087	byFrequency	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:18045853_18045871delGGGGGCTGGATATGTTGCT	ENST00000430540.1	+	0	219																											tggctgagccgggGGCTGGATATGTTGCTGGGAGGAACA	0.58																																						ENST00000430540.1																			0																																																			0							g.chr1:18045853_18045871delGGGGGCTGGATATGTTGCT																													1.37:g.18045853_18045871delGGGGGCTGGATATGTTGCT														0	219	+									RNA	DEL	ENST00000430540.1	37																																																																																						0.580	RP11-473A10.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000007156.1			3	3						3	3	---	---	---	---
ZSWIM5	57643	broad.mit.edu	37	1	45553866	45553867	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:45553866_45553867delAG	ENST00000359600.5	-	2	843_844	c.638_639delCT	c.(637-639)tctfs	p.S213fs	ZSWIM5_ENST00000464588.1_5'UTR	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	213						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CTGCTGGTTCAGAGGCAGTGGC	0.421																																						ENST00000359600.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(637-639)tfs		zinc finger, SWIM-type containing 5																																				SO:0001589	frameshift_variant	57643						zinc ion binding	g.chr1:45553866_45553867delAG	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"""Zinc fingers, SWIM-type"""	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.638_639delCT	1.37:g.45553868_45553869delAG	ENSP00000352614:p.Ser213fs					ZSWIM5_ENST00000464588.1_5'UTR	p.S213fs	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN			2	843_844	-	Acute lymphoblastic leukemia(166;0.155)		213					Q5SXQ9	Frame_Shift_Del	DEL	ENST00000359600.5	37	c.638_639delCT	CCDS41319.1																																																																																				0.421	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581		7	61						7	61	---	---	---	---
RP11-782C8.2	0	broad.mit.edu	37	1	143179972	143179972	+	lincRNA	DEL	G	G	-	rs371012579		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:143179972delG	ENST00000412204.2	-	0	2503				RP11-782C8.1_ENST00000438000.1_lincRNA																							gaagttaaaagggtgtttgtt	0.393																																						ENST00000412204.2																			0																																																			0							g.chr1:143179972delG																													1.37:g.143179972delG						RP11-782C8.1_ENST00000438000.1_lincRNA								0	2503	-									RNA	DEL	ENST00000412204.2	37																																																																																						0.393	RP11-782C8.2-004	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037567.2			2	4						2	4	---	---	---	---
LOC730100	730100	broad.mit.edu	37	2	52489916	52489917	+	lincRNA	DEL	GC	GC	-	rs70961918|rs4635561|rs368916176	byFrequency	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:52489916_52489917delGC	ENST00000440698.1	+	0	879																											gtgtgtgtgtgcgtgtCTCAGC	0.52														3409	0.680711	0.947	0.4539	5008	,	,		14616	0.7312		0.5398	False		,,,				2504	0.5746					ENST00000440698.1																			0																																																			0							g.chr2:52489916_52489917delGC																													2.37:g.52489916_52489917delGC														0	879	+									RNA	DEL	ENST00000440698.1	37																																																																																						0.520	AC007682.1-001	KNOWN	mRNA_start_NF|basic	lincRNA	lincRNA	OTTHUMT00000291399.3			2	4						2	4	---	---	---	---
NCKIPSD	51517	broad.mit.edu	37	3	48720447	48720448	+	Splice_Site	INS	-	-	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:48720447_48720448insG	ENST00000294129.2	-	2	291		c.e2-2		NCKIPSD_ENST00000341520.4_Splice_Site|NCKIPSD_ENST00000416649.2_Splice_Site	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain						cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|NLS-bearing protein import into nucleus (GO:0006607)|signal transduction (GO:0007165)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	cytoskeletal protein binding (GO:0008092)	p.?(1)		endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTCCAGGCCCTGGGGGGGGCAG	0.619																																						ENST00000294129.2																			1	Unknown(1)	p.?(1)	large_intestine(1)	endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11						c.e2-2		NCK interacting protein with SH3 domain																																				SO:0001630	splice_region_variant	51517				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding	g.chr3:48720447_48720448insG	AF178432	CCDS2776.1, CCDS46827.1	3p21	2008-07-18			ENSG00000213672	ENSG00000213672			15486	protein-coding gene	gene with protein product	"""dia interacting protein"", ""diaphanous protein interacting protein"", ""SH3 protein interacting with Nck, 90 kDa"""	606671				10648423, 10619843	Standard	NM_016453		Approved	AF3P21, SPIN90, ORF1, WISH, WASLBP, DIP1	uc003cun.3	Q9NZQ3	OTTHUMG00000133542	ENST00000294129.2:c.172-2->C	3.37:g.48720455_48720455dupG						NCKIPSD_ENST00000341520.4_Splice_Site|NCKIPSD_ENST00000416649.2_Splice_Site		NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	2	291	-								B4DFL5|Q6GU34|Q6SPF3|Q8TC10|Q9UGM8	Splice_Site	INS	ENST00000294129.2	37		CCDS2776.1																																																																																				0.619	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257520.1	NM_016453	Intron	2	4						2	4	---	---	---	---
LOC100507053	100507053	broad.mit.edu	37	4	100026988	100026988	+	RNA	DEL	A	A	-	rs35565607|rs112221142|rs200767576	byFrequency	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:100026988delA	ENST00000500358.2	+	0	428					NR_037884.1																						taagactgccacctctttagg	0.448													A|A|-|deletion	4040	0.806709	0.6808	0.8055	5008	,	,		17349	0.999		0.6958	False		,,,				2504	0.8937					ENST00000500358.2																			0																																																			0							g.chr4:100026988delA																													4.37:g.100026988delA								NR_037884.1						0	428	+									RNA	DEL	ENST00000500358.2	37																																																																																						0.448	RP11-696N14.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000364248.1			5	1						5	1	---	---	---	---
MIR9-2	407047	broad.mit.edu	37	5	87980814	87980816	+	RNA	DEL	GAG	GAG	-			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:87980814_87980816delGAG	ENST00000510274.1	+	0	46																											ggaggaggaagaggaggaggagg	0.581																																						ENST00000510274.1																			0																																																			0							g.chr5:87980814_87980816delGAG																													5.37:g.87980823_87980825delGAG														0	46	+									RNA	DEL	ENST00000510274.1	37																																																																																						0.581	CTC-467M3.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000369794.1			2	4						2	4	---	---	---	---
POLR2J4	84820	broad.mit.edu	37	7	44018551	44018554	+	RNA	DEL	TGAA	TGAA	-	rs75730090		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:44018551_44018554delTGAA	ENST00000427076.1	-	0	894				RP5-1165K10.2_ENST00000454572.1_RNA	NR_003655.2				polymerase (RNA) II (DNA directed) polypeptide J4, pseudogene																		agtgagtgagtgaatgaatgaatg	0.5																																						ENST00000427076.1																			0																																																			0							g.chr7:44018551_44018554delTGAA			7p13	2008-08-21			ENSG00000214783	ENSG00000214783			28195	pseudogene	pseudogene						15586814	Standard	NR_003655		Approved	MGC13098	uc010kxw.2		OTTHUMG00000155253		7.37:g.44018559_44018562delTGAA								NR_003655.2						0	894	-									RNA	DEL	ENST00000427076.1	37																																																																																						0.500	POLR2J4-002	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473169.1	NR_003655		2	4						2	4	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100365264	100365265	+	RNA	INS	-	-	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:100365264_100365265insT	ENST00000348028.3	+	0	5025				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			tgcacggctaattttttttttc	0.535																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)																																						7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100365264_100365265insT	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100365274_100365274dupT						ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	5008	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	INS	ENST00000348028.3	37																																																																																						0.535	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		2	4						2	4	---	---	---	---
TNPO3	23534	broad.mit.edu	37	7	128610355	128610356	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:128610355_128610356delAA	ENST00000265388.5	-	20	2587_2588	c.2444_2445delTT	c.(2443-2445)tttfs	p.F815fs	TNPO3_ENST00000471234.1_Frame_Shift_Del_p.F751fs|TNPO3_ENST00000393245.1_Frame_Shift_Del_p.F849fs|TNPO3_ENST00000482320.1_Frame_Shift_Del_p.F749fs|TNPO3_ENST00000471166.1_Frame_Shift_Del_p.F849fs|RN7SL306P_ENST00000492941.2_RNA			Q9Y5L0	TNPO3_HUMAN	transportin 3	815					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						TCCGTAATTCAAAGTCTTCTTC	0.455																																					Pancreas(147;583 2585 39696 52331)	ENST00000393245.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						c.(2545-2547)tfs		transportin 3																																				SO:0001589	frameshift_variant	23534				splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity	g.chr7:128610355_128610356delAA	AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"""Importins"""	17103	protein-coding gene	gene with protein product	"""importin 12"""	610032	"""limb girdle muscular dystrophy 1F (autosomal dominant)"""	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.2444_2445delTT	7.37:g.128610355_128610356delAA	ENSP00000265388:p.Phe815fs					TNPO3_ENST00000482320.1_Frame_Shift_Del_p.F749fs|TNPO3_ENST00000471234.1_Frame_Shift_Del_p.F751fs|TNPO3_ENST00000471166.1_Frame_Shift_Del_p.F849fs|TNPO3_ENST00000265388.5_Frame_Shift_Del_p.F815fs	p.F849fs	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN			20	2919_2920	-			815					A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Frame_Shift_Del	DEL	ENST00000265388.5	37	c.2546_2547delTT	CCDS5809.1																																																																																				0.455	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1	NM_012470		49	177						49	177	---	---	---	---
AC068580.7	0	broad.mit.edu	37	11	1798832	1798832	+	lincRNA	DEL	G	G	-			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:1798832delG	ENST00000449749.1	-	0	93																											GGATCATTGAGGGCTGAGCTG	0.627																																						ENST00000449749.1																			0																																																			0							g.chr11:1798832delG																													11.37:g.1798832delG														0	93	-									RNA	DEL	ENST00000449749.1	37																																																																																						0.627	AC068580.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000105392.1			2	4						2	4	---	---	---	---
NNMT	4837	broad.mit.edu	37	11	114128386	114128387	+	5'Flank	DEL	AC	AC	-			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:114128386_114128387delAC	ENST00000535401.1	+	0	0				RP11-64D24.2_ENST00000544925.1_RNA			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase						methylation (GO:0032259)|organ regeneration (GO:0031100)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	nicotinamide N-methyltransferase activity (GO:0008112)			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	CAACTCCCCGacacacacacac	0.599																																						ENST00000544925.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr11:114128386_114128387delAC	U08021	CCDS8368.1	11q23.1	2007-08-15					2.1.1.1		7861	protein-coding gene	gene with protein product		600008				8575745	Standard	NM_006169		Approved		uc001pos.1	P40261			11.37:g.114128396_114128397delAC	Exception_encountered													0	56	-									RNA	DEL	ENST00000535401.1	37		CCDS8368.1																																																																																				0.599	NNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398951.1	NM_006169		3	3						3	3	---	---	---	---
LOC100190940	100190940	broad.mit.edu	37	12	130527609	130527614	+	lincRNA	DEL	TACCCA	TACCCA	-	rs12426767		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:130527609_130527614delTACCCA	ENST00000567788.1	-	0	1139				RP11-474D1.4_ENST00000561864.1_lincRNA																							tgcatacatttacccatacctacacg	0.442																																						ENST00000567788.1																			0																																																			0							g.chr12:130527609_130527614delTACCCA																													12.37:g.130527609_130527614delTACCCA						RP11-474D1.4_ENST00000561864.1_lincRNA								0	1139	-									RNA	DEL	ENST00000567788.1	37																																																																																						0.442	RP11-474D1.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000399498.1			2	4						2	4	---	---	---	---
RP11-159L20.2	0	broad.mit.edu	37	14	31272283	31272284	+	RNA	INS	-	-	ATGT	rs60675498|rs2819781	byFrequency	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:31272283_31272284insATGT	ENST00000554665.1	-	0	208																											TCCATTGCAGCgtgtgtgtgtg	0.475																																						ENST00000554665.1																			0																																																			0							g.chr14:31272283_31272284insATGT																													14.37:g.31272283_31272284insATGT														0	208	-									RNA	INS	ENST00000554665.1	37																																																																																						0.475	RP11-159L20.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000409699.1			2	4						2	4	---	---	---	---
RP11-472N19.3	0	broad.mit.edu	37	14	92725548	92725548	+	lincRNA	DEL	C	C	-			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:92725548delC	ENST00000553537.1	-	0	134																											aggtgaacctccAGCCACATC	0.592																																						ENST00000553537.1																			0																																																			0							g.chr14:92725548delC																													14.37:g.92725548delC														0	134	-									RNA	DEL	ENST00000553537.1	37																																																																																						0.592	RP11-472N19.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000412266.1			2	4						2	4	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25432666	25432666	+	RNA	DEL	G	G	-	rs368646014		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:25432666delG	ENST00000424208.1	+	0	761				SNORD115-9_ENST00000362912.1_RNA|SNHG14_ENST00000414175.1_RNA|SNORD115-10_ENST00000365073.1_RNA|SNORD115-11_ENST00000363616.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		TGTGTGTGGTGGGGGGTGCCC	0.552																																						ENST00000424208.1																			0																				277.0	278.0	278.0					15																	25432666		876	1991	2867			0							g.chr15:25432666delG			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25432666delG								NR_003305.1						0	761	+									RNA	DEL	ENST00000424208.1	37																																																																																						0.552	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			9	483						9	483	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25479907	25479908	+	RNA	INS	-	-	T	rs75602507|rs35356216|rs374065311	byFrequency	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:25479907_25479908insT	ENST00000453082.2	+	0	1934				SNORD115-35_ENST00000365122.1_RNA|SNORD115-34_ENST00000362441.1_RNA|SNORD115-36_ENST00000365629.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		AGGAGGGTGGGTTTTTGGGAAT	0.574																																						ENST00000453082.2																			0																																																			0							g.chr15:25479907_25479908insT			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25479912_25479912dupT								NR_003343.1						0	1934	+									RNA	INS	ENST00000453082.2	37																																																																																						0.574	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	processed_transcript	OTTHUMT00000126730.2			4	3						4	3	---	---	---	---
RP11-519G16.3	0	broad.mit.edu	37	15	45755523	45755525	+	RNA	DEL	CAC	CAC	-			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:45755523_45755525delCAC	ENST00000560077.1	+	0	41				RP11-519G16.3_ENST00000559960.1_RNA|RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA|RP11-519G16.3_ENST00000559869.1_RNA																							ccatcaccatcaccaccaccacc	0.581																																						ENST00000560077.1																			0																																																			0							g.chr15:45755523_45755525delCAC																													15.37:g.45755532_45755534delCAC						RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA								0	41	+									RNA	DEL	ENST00000560077.1	37																																																																																						0.581	RP11-519G16.3-005	KNOWN	basic	antisense	antisense	OTTHUMT00000416549.1			4	6						4	6	---	---	---	---
RP11-718O11.1	0	broad.mit.edu	37	15	45998661	45998662	+	lincRNA	DEL	TT	TT	-	rs34610092|rs371877181	byFrequency	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:45998661_45998662delTT	ENST00000560705.1	+	0	212																											ATTCTACCTCtttttttttttt	0.436														2132	0.425719	0.3343	0.2954	5008	,	,		17569	0.5655		0.3459	False		,,,				2504	0.5798					ENST00000560705.1																			0																																																			0							g.chr15:45998661_45998662delTT																													15.37:g.45998671_45998672delTT														0	212	+									RNA	DEL	ENST00000560705.1	37																																																																																						0.436	RP11-718O11.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000416555.1			3	6						3	6	---	---	---	---
LOC101928880	101928880	broad.mit.edu	37	16	88226611	88226611	+	lincRNA	DEL	G	G	-			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr16:88226611delG	ENST00000569362.1	+	0	0				RP11-863P13.2_ENST00000568587.1_lincRNA																							tggtggtgatggtggtgatgg	0.522																																						ENST00000568587.1																			0																																																			0							g.chr16:88226611delG																													16.37:g.88226611delG														0	91	-									RNA	DEL	ENST00000569362.1	37																																																																																						0.522	LA16c-444G7.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000430450.1			4	9						4	9	---	---	---	---
RP11-445F12.1	0	broad.mit.edu	37	17	35223502	35223502	+	RNA	DEL	T	T	-	rs35954827|rs202236797|rs528279284	byFrequency	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:35223502delT	ENST00000528383.1	-	0	98																											ggctcccccctggtctccttc	0.448														2009	0.401158	0.6074	0.3228	5008	,	,		21518	0.37		0.327	False		,,,				2504	0.2863					ENST00000528383.1																			0																																																			0							g.chr17:35223502delT																													17.37:g.35223502delT														0	98	-									RNA	DEL	ENST00000528383.1	37																																																																																						0.448	RP11-445F12.1-004	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000387605.1			7	1						7	1	---	---	---	---
RP11-595B24.1	0	broad.mit.edu	37	18	19617701	19617702	+	lincRNA	INS	-	-	C	rs151134792	byFrequency	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr18:19617701_19617702insC	ENST00000584898.1	+	0	39																											gagttccagtgctttgcattct	0.371													C|C|CC|insertion	134	0.0267572	0.0983	0.0058	5008	,	,		17323	0.0		0.0	False		,,,				2504	0.0					ENST00000584898.1																			0																																																			0							g.chr18:19617701_19617702insC																													18.37:g.19617702_19617702dupC														0	39	+									RNA	INS	ENST00000584898.1	37																																																																																						0.371	RP11-595B24.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000446369.1			3	3						3	3	---	---	---	---
LILRA4	23547	broad.mit.edu	37	19	54843240	54843241	+	IGR	DEL	CT	CT	-			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:54843240_54843241delCT	ENST00000291759.4	-	0	1944				AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4						immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GGGAGGCCTCCTCTCCCAGGAG	0.629																																						ENST00000507363.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr19:54843240_54843241delCT	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355		19.37:g.54843242_54843243delCT														0	430	-								Q32MC4	RNA	DEL	ENST00000291759.4	37		CCDS12890.1																																																																																				0.629	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		2	4						2	4	---	---	---	---
LINC01598	105379478	broad.mit.edu	37	20	29588566	29588566	+	RNA	DEL	A	A	-	rs374880232		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:29588566delA	ENST00000432067.1	-	0	152																											tttgtattttattgagaattt	0.323																																						ENST00000432067.1																			0																																																			0							g.chr20:29588566delA																													20.37:g.29588566delA														0	152	-									RNA	DEL	ENST00000432067.1	37																																																																																						0.323	RP4-610C12.1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078489.3			4	6						4	6	---	---	---	---
MIR646HG	284757	broad.mit.edu	37	20	58889680	58889687	+	lincRNA	DEL	ATCCTCCT	ATCCTCCT	-	rs201009524		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:58889680_58889687delATCCTCCT	ENST00000432910.1	+	0	332					NR_046099.1																						cctcccatccatcctcctatccatccat	0.548																																						ENST00000432910.1																			0																																																			0							g.chr20:58889680_58889687delATCCTCCT																													20.37:g.58889680_58889687delATCCTCCT								NR_046099.1						0	332	+									RNA	DEL	ENST00000432910.1	37																																																																																						0.548	RP5-1043L13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000079947.1			2	4						2	4	---	---	---	---
TCEA2	6919	broad.mit.edu	37	20	62688200	62688200	+	5'Flank	DEL	G	G	-			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:62688200delG	ENST00000361317.2	+	0	0				RP13-152O15.5_ENST00000455524.1_RNA	NM_198723.1	NP_942016.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2						DNA-templated transcription, elongation (GO:0006354)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)	centrosome (GO:0005813)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					GACGCCTGTTGGGGCCAGGGC	0.652																																						ENST00000455524.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr20:62688200delG	U86749	CCDS13553.1, CCDS13554.1	20q13.33	2011-01-25			ENSG00000171703	ENSG00000171703			11614	protein-coding gene	gene with protein product		604784				9441762, 8566795	Standard	NM_003195		Approved	TFIIS	uc021wgq.1	Q15560	OTTHUMG00000033026		20.37:g.62688200delG	Exception_encountered													0	45	+								B3KNM1|Q8TD37|Q8TD38	RNA	DEL	ENST00000361317.2	37		CCDS13554.1																																																																																				0.652	TCEA2-008	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080284.1	NM_198723		2	4						2	4	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11042864	11042867	+	RNA	DEL	AGTA	AGTA	-	rs56773804|rs371265697|rs111696081	byFrequency	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr21:11042864_11042867delAGTA	ENST00000470054.1	-	0	774							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		caatattaatagtaagtaagctta	0.358														2439	0.487021	0.4955	0.4885	5008	,	,		60871	0.4752		0.4821	False		,,,				2504	0.4918					ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11042864_11042867delAGTA	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11042868_11042871delAGTA												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	774	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.358	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	5						4	5	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11062731	11062732	+	RNA	INS	-	-	AA	rs377435347|rs71303621|rs7275534	byFrequency	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr21:11062731_11062732insAA	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		actttttttttaaatttattat	0.46																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11062731_11062732insAA	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11062732_11062733dupAA												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.460	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		2	4						2	4	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11066883	11066884	+	RNA	INS	-	-	AA	rs147216020|rs201017143		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr21:11066883_11066884insAA	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTAGAATCCATAATACTCTCAG	0.366																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11066883_11066884insAA	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11066884_11066885dupAA												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.366	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		2	4						2	4	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11093133	11093134	+	RNA	INS	-	-	A	rs61073561|rs368133712|rs139629046|rs397730308	byFrequency	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr21:11093133_11093134insA	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGTTCTCCCCTACCCCCCACAA	0.401																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11093133_11093134insA	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11093134_11093134dupA												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.401	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		2	4						2	4	---	---	---	---
