#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
ATP13A4	84239	broad.mit.edu	37	3	193188757	193188757	+	Silent	SNP	G	G	A	rs376879092		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr3:193188757G>A	ENST00000342695.4	-	9	1156	c.834C>T	c.(832-834)cgC>cgT	p.R278R	ATP13A4_ENST00000295548.3_Silent_p.R278R|ATP13A4_ENST00000392443.3_Silent_p.R278R	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	278						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GCACCAGGACGCGTGATTCCA	0.448																																						ENST00000342695.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71						c.(832-834)cgC>cgT		ATPase type 13A4		G		0,4406		0,0,2203	148.0	146.0	147.0		834	2.7	0.8	3		147	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ATP13A4	NM_032279.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		278/1197	193188757	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193188757G>A	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.834C>T	3.37:g.193188757G>A						ATP13A4_ENST00000392443.3_Silent_p.R278R|ATP13A4_ENST00000295548.3_Silent_p.R278R	p.R278R	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	9	1156	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		278					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Silent	SNP	ENST00000342695.4	37	c.834C>T	CCDS3304.2																																																																																				0.448	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		50	253	0	0	0	1	0	50	253				
ZNF587B	100293516	broad.mit.edu	37	19	58352661	58352661	+	Missense_Mutation	SNP	T	T	A	rs148810844	byFrequency	TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr19:58352661T>A	ENST00000442832.4	+	3	853	c.619T>A	c.(619-621)Ttt>Att	p.F207I	ZNF587B_ENST00000316462.4_Intron|CTD-2583A14.10_ENST00000598031.1_Intron|ZNF587B_ENST00000594901.1_Missense_Mutation_p.F207I	NM_001204818.1	NP_001191747.1	E7ETH6	Z587B_HUMAN	zinc finger protein 587B	207					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.F207I(1)									TGTGTCTCCCTTTCAGTGTGG	0.493													.|||	45	0.00898562	0.0242	0.0086	5008	,	,		19838	0.002		0.004	False		,,,				2504	0.001					ENST00000442832.4																			1	Substitution - Missense(1)	p.F207I(1)	kidney(1)								c.(619-621)Ttt>Att		zinc finger protein 587B																																				SO:0001583	missense	100293516				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58352661T>A	AK299091	CCDS56109.1	19q13.43	2013-01-08				ENSG00000269343		"""Zinc fingers, C2H2-type"", ""-"""	37142	protein-coding gene	gene with protein product							Standard	NM_001204818		Approved		uc021vcp.1	E7ETH6		ENST00000442832.4:c.619T>A	19.37:g.58352661T>A	ENSP00000392410:p.Phe207Ile					ZNF587B_ENST00000594901.1_Missense_Mutation_p.F207I|ZNF587B_ENST00000316462.4_Intron|CTD-2583A14.10_ENST00000598031.1_Intron	p.F207I	NM_001204818.1	NP_001191747.1	B4DR41	B4DR41_HUMAN			3	853	+			207					B4DR41	Missense_Mutation	SNP	ENST00000442832.4	37	c.619T>A	CCDS56109.1	29	0.013278388278388278	21	0.042682926829268296	4	0.011049723756906077	1	0.0017482517482517483	3	0.00395778364116095	.	6.729	0.503289	0.12822	.	.	ENSG00000198466	ENST00000442832	T	0.05319	3.46	1.58	-0.702	0.11265	.	.	.	.	.	T	0.01320	0.0043	M	0.65320	2	.	.	.	B;B	0.25007	0.011;0.116	B;B	0.27608	0.01;0.081	T	0.35076	-0.9803	7	.	.	.	.	2.0786	0.03630	0.2642:0.3566:0.0:0.3793	.	207;156	E7ETH6;Q92967	.;.	I	207	ENSP00000392410:F207I	.	F	+	1	0	ZNF587	63044473	0.000000	0.05858	0.001000	0.08648	0.035000	0.12851	-0.160000	0.10041	-0.265000	0.09352	-0.861000	0.03010	TTT		0.493	ZNF587B-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466834.2	NM_001204818		4	39	0	0	0	1	0	4	39				
SLC16A11	162515	broad.mit.edu	37	17	6946803	6946803	+	Silent	SNP	A	A	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr17:6946803A>G	ENST00000308009.1	-	1	439	c.102T>C	c.(100-102)gaT>gaC	p.D34D	SLC16A11_ENST00000447225.1_Silent_p.D10D	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	34					lipid metabolic process (GO:0006629)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						CCCAGCCCCCATCCGGGGGTC	0.706																																						ENST00000308009.1																			0				endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						c.(100-102)gaT>gaC		solute carrier family 16, member 11							7.0	10.0	9.0					17																	6946803		2089	4109	6198	SO:0001819	synonymous_variant	162515					integral to membrane|plasma membrane	symporter activity	g.chr17:6946803A>G	AK074674	CCDS11086.1	17p13.2	2013-07-18	2013-07-18		ENSG00000174326	ENSG00000174326		"""Solute carriers"""	23093	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 11"""	615765	"""solute carrier family 16 (monocarboxylic acid transporters), member 11"""				Standard	NM_153357		Approved	FLJ90193, MCT11	uc002gei.1	Q8NCK7	OTTHUMG00000102087	ENST00000308009.1:c.102T>C	17.37:g.6946803A>G						SLC16A11_ENST00000447225.1_Silent_p.D10D	p.D34D	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN			1	439	-			34						Silent	SNP	ENST00000308009.1	37	c.102T>C	CCDS11086.1																																																																																				0.706	SLC16A11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219921.1	NM_153357		6	26	0	0	0	1	0	6	26				
PHKA2	5256	broad.mit.edu	37	X	18972448	18972448	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chrX:18972448A>C	ENST00000379942.4	-	2	826	c.161T>G	c.(160-162)gTg>gGg	p.V54G		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	54					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CAGGCCCCACACGGCCAGGAT	0.567																																						ENST00000379942.4																			0				NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(160-162)gTg>gGg		phosphorylase kinase, alpha 2 (liver)							126.0	89.0	101.0					X																	18972448		2203	4300	6503	SO:0001583	missense	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18972448A>C		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.161T>G	X.37:g.18972448A>C	ENSP00000369274:p.Val54Gly						p.V54G	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN			2	826	-	Hepatocellular(33;0.183)		54					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	c.161T>G	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	A	30	5.057400	0.93846	.	.	ENSG00000044446	ENST00000379942	D	0.93019	-3.15	5.65	5.65	0.86999	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.97451	0.9166	M	0.93197	3.39	0.80722	D	1	D	0.71674	0.998	D	0.72625	0.978	D	0.98415	1.0574	10	0.87932	D	0	-19.1455	14.9145	0.70785	1.0:0.0:0.0:0.0	.	54	P46019	KPB2_HUMAN	G	54	ENSP00000369274:V54G	ENSP00000369274:V54G	V	-	2	0	PHKA2	18882369	1.000000	0.71417	0.981000	0.43875	0.928000	0.56348	9.284000	0.95882	1.904000	0.55121	0.486000	0.48141	GTG		0.567	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		27	47	0	0	0	1	0	27	47				
SMARCC2	6601	broad.mit.edu	37	12	56568509	56568509	+	Silent	SNP	T	T	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr12:56568509T>G	ENST00000267064.4	-	16	1508	c.1422A>C	c.(1420-1422)cgA>cgC	p.R474R	SMARCC2_ENST00000550164.1_Silent_p.R474R|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000394023.3_Silent_p.R474R|SMARCC2_ENST00000347471.4_Silent_p.R474R	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	474	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				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)			GGGGGTTCAGTCGGTAAGTGT	0.468																																						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.(1420-1422)cgA>cgC		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2							124.0	125.0	125.0					12																	56568509		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.chr12:56568509T>G	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.1422A>C	12.37:g.56568509T>G						RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Silent_p.R474R|SMARCC2_ENST00000550164.1_Silent_p.R474R|SMARCC2_ENST00000267064.4_Silent_p.R474R	p.R474R	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		16	1527	-			474			SWIRM.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Silent	SNP	ENST00000267064.4	37	c.1422A>C	CCDS8907.1																																																																																				0.468	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			14	147	0	0	0	1	0	14	147				
ZNF622	90441	broad.mit.edu	37	5	16463618	16463618	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr5:16463618C>G	ENST00000308683.2	-	2	985	c.859G>C	c.(859-861)Gat>Cat	p.D287H		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	287					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of kinase activity (GO:0033674)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CCCTTAATATCTGAAAGATAT	0.368																																						ENST00000308683.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						c.(859-861)Gat>Cat		zinc finger protein 622							72.0	78.0	76.0					5																	16463618		2203	4300	6503	SO:0001583	missense	90441					cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr5:16463618C>G	AY046059	CCDS3886.1	5p15.1	2012-10-05			ENSG00000173545	ENSG00000173545			30958	protein-coding gene	gene with protein product		608694				11802789, 12645566	Standard	NM_033414		Approved	MGC2485, MGC17552, ZPR9	uc003jfq.3	Q969S3	OTTHUMG00000090567	ENST00000308683.2:c.859G>C	5.37:g.16463618C>G	ENSP00000310042:p.Asp287His						p.D287H	NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN			2	985	-			287						Missense_Mutation	SNP	ENST00000308683.2	37	c.859G>C	CCDS3886.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.651640	0.88056	.	.	ENSG00000173545	ENST00000308683	T	0.48201	0.82	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.77452	0.4132	M	0.91354	3.2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81462	-0.0922	10	0.87932	D	0	2.5812	20.2664	0.98460	0.0:1.0:0.0:0.0	.	287	Q969S3	ZN622_HUMAN	H	287	ENSP00000310042:D287H	ENSP00000310042:D287H	D	-	1	0	ZNF622	16516618	1.000000	0.71417	0.727000	0.30756	0.984000	0.73092	7.227000	0.78070	2.786000	0.95864	0.561000	0.74099	GAT		0.368	ZNF622-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207105.1	NM_033414		15	84	0	0	0	1	0	15	84				
MT-ATP6	4508	broad.mit.edu	37	M	9061	9061	+	Silent	SNP	C	C	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chrM:9061C>T	ENST00000361899.2	+	1	535	c.535C>T	c.(535-537)Cta>Tta	p.L179L	MT-CO3_ENST00000362079.2_5'Flank|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-TR_ENST00000387439.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-TS1_ENST00000387416.2_RNA|MT-ND4_ENST00000361381.2_5'Flank			P00846	ATP6_HUMAN	mitochondrially encoded ATP synthase 6	179					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(2)|endometrium(7)|kidney(8)|prostate(1)	18						GAAGCGCCACCCTAGCAATAT	0.458																																						ENST00000361899.2																			0				breast(2)|endometrium(7)|kidney(8)|prostate(1)	18						c.(535-537)Cta>Tta		mitochondrially encoded ATP synthase 6																																				SO:0001819	synonymous_variant	4508							g.chrM:9061C>T			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198899	ENSG00000198899		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	7414	protein-coding gene	gene with protein product		516060	"""ATP synthase 6"", ""spicular retinitis pigmentosa with dementia, seizures, ataxia, proximal muscle weakness and sensory deficit"""	MTATP6, RP		7219534	Standard			Approved	ATP6, ATPase-6, Su6m		P00846		ENST00000361899.2:c.535C>T	M.37:g.9061C>T							p.L179L							1	535	+								Q34772|Q5S8W5|Q5S9E7|Q5S9I6|Q5SA31|Q6RPB7|Q6VHC0|Q6VHE0|Q6WQF4|Q7YCC1|Q7YCF8|Q7YCG1|Q85KU8|Q85KX1|Q85L05|Q8HNQ4|Q8HNQ8|Q8WCX6|Q9B2U5|Q9B2Z2	Silent	SNP	ENST00000361899.2	37	c.535C>T																																																																																					0.458	MT-ATP6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024031		9	358	0	0	0	1	0	9	358				
XPNPEP3	63929	broad.mit.edu	37	22	41320470	41320470	+	Silent	SNP	A	A	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr22:41320470A>C	ENST00000357137.4	+	9	1425	c.1341A>C	c.(1339-1341)gtA>gtC	p.V447V	XPNPEP3_ENST00000544094.1_Silent_p.V424V	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	447					glomerular filtration (GO:0003094)|protein processing (GO:0016485)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metallopeptidase activity (GO:0008237)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						CTGGGATGGTAATCACAATTG	0.473																																					Ovarian(145;306 1841 7037 21878 30110)	ENST00000357137.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(1339-1341)gtA>gtC		X-prolyl aminopeptidase (aminopeptidase P) 3, putative							134.0	105.0	115.0					22																	41320470		2203	4300	6503	SO:0001819	synonymous_variant	63929				cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity	g.chr22:41320470A>C		CCDS14007.1, CCDS74869.1	22q13.2	2010-07-20			ENSG00000196236	ENSG00000196236			28052	protein-coding gene	gene with protein product		613553				15708373, 20179356	Standard	NM_022098		Approved	APP3, NPHPL1	uc003azh.3	Q9NQH7	OTTHUMG00000151312	ENST00000357137.4:c.1341A>C	22.37:g.41320470A>C						XPNPEP3_ENST00000544094.1_Silent_p.V424V	p.V447V	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN			9	1425	+			447					B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	Silent	SNP	ENST00000357137.4	37	c.1341A>C	CCDS14007.1																																																																																				0.473	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322201.2	NM_022098		9	31	0	0	0	1	0	9	31				
RRNAD1	51093	broad.mit.edu	37	1	156702121	156702121	+	Silent	SNP	G	G	A	rs548109086		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:156702121G>A	ENST00000368216.4	+	3	915	c.285G>A	c.(283-285)gcG>gcA	p.A95A	RRNAD1_ENST00000524343.1_Missense_Mutation_p.V54M|RRNAD1_ENST00000368218.4_Silent_p.A95A|RRNAD1_ENST00000476229.1_5'UTR	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	95						integral component of membrane (GO:0016021)	rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						AGTCCACGGCGTGTGCCCTGG	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		17069	0.0		0.0	False		,,,				2504	0.001					ENST00000524343.1																			0				NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						c.(160-162)Gtg>Atg		ribosomal RNA adenine dimethylase domain containing 1							57.0	61.0	60.0					1																	156702121		2203	4300	6503	SO:0001819	synonymous_variant	51093					integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr1:156702121G>A	BC011382	CCDS1154.1, CCDS44246.1	1q23.1	2011-01-28	2011-01-28	2011-01-28	ENSG00000143303	ENSG00000143303			24273	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 66"""	C1orf66		10810093, 310876	Standard	NM_015997		Approved	CGI-41	uc001fpu.3	Q96FB5	OTTHUMG00000041302	ENST00000368216.4:c.285G>A	1.37:g.156702121G>A						RRNAD1_ENST00000368218.4_Silent_p.A95A|RRNAD1_ENST00000476229.1_5'UTR|RRNAD1_ENST00000368216.4_Silent_p.A95A	p.V54M			Q96FB5	RRNAD_HUMAN			2	305	+			0					D3DVC7|Q4VX71|Q5SZ03|Q9Y358	Missense_Mutation	SNP	ENST00000368216.4	37	c.160G>A	CCDS1154.1	.	.	.	.	.	.	.	.	.	.	G	1.720	-0.496822	0.04291	.	.	ENSG00000143303	ENST00000524343	.	.	.	4.63	1.72	0.24424	.	.	.	.	.	T	0.35711	0.0941	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36016	-0.9765	5	0.56958	D	0.05	-13.9837	2.1208	0.03725	0.1579:0.509:0.1548:0.1782	.	.	.	.	M	54	.	ENSP00000429389:V54M	V	+	1	0	RRNAD1	154968745	0.013000	0.17824	0.523000	0.27875	0.162000	0.22319	-0.752000	0.04797	0.192000	0.20272	-0.228000	0.12330	GTG		0.592	RRNAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098973.1	NM_015997		17	48	0	0	0	1	0	17	48				
RPL21	6144	broad.mit.edu	37	13	27827919	27827919	+	Silent	SNP	G	G	A	rs112351536	byFrequency	TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr13:27827919G>A	ENST00000311549.6	+	2	295	c.6G>A	c.(4-6)acG>acA	p.T2T	RPL21_ENST00000319826.4_Silent_p.T2T|SNORD102_ENST00000384769.1_RNA|SNORA27_ENST00000384323.1_RNA|RPL21_ENST00000326092.4_Silent_p.T2T|RPL21_ENST00000272274.4_Silent_p.T2T	NM_000982.3	NP_000973.2	P46778	RL21_HUMAN	ribosomal protein L21	2					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|lung(1)	2		Lung SC(185;0.0156)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0287)|OV - Ovarian serous cystadenocarcinoma(117;0.118)|Epithelial(112;0.139)|GBM - Glioblastoma multiforme(144;0.21)		CCAAAATGACGAACACAAAGG	0.418																																						ENST00000311549.6																			0				large_intestine(1)|lung(1)	2						c.(4-6)acG>acA		ribosomal protein L21		G		1,4405	2.1+/-5.4	0,1,2202	63.0	60.0	61.0		6	1.5	1.0	13	dbSNP_132	61	0,8600		0,0,4300	no	coding-synonymous	RPL21	NM_000982.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		2/161	27827919	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6144				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr13:27827919G>A	AB007176	CCDS9320.1	13q12.2	2008-07-18			ENSG00000122026	ENSG00000122026		"""L ribosomal proteins"""	10313	protein-coding gene	gene with protein product	"""60S ribosomal protein L21"""	603636				3459254, 7772601	Standard	NM_000982		Approved	L21, FLJ27458, MGC71252, MGC104274, MGC104275, DKFZp686C06101	uc001ura.3	P46778	OTTHUMG00000016630	ENST00000311549.6:c.6G>A	13.37:g.27827919G>A						RPL21_ENST00000319826.4_Silent_p.T2T|RPL21_ENST00000326092.4_Silent_p.T2T|RPL21_ENST00000272274.4_Silent_p.T2T	p.T2T	NM_000982.3	NP_000973.2	P46778	RL21_HUMAN	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0287)|OV - Ovarian serous cystadenocarcinoma(117;0.118)|Epithelial(112;0.139)|GBM - Glioblastoma multiforme(144;0.21)	2	295	+		Lung SC(185;0.0156)	2					Q16699	Silent	SNP	ENST00000311549.6	37	c.6G>A	CCDS9320.1																																																																																				0.418	RPL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044270.1	NM_000982		8	39	0	0	0	1	0	8	39				
GPR97	222487	broad.mit.edu	37	16	57717867	57717867	+	Nonsense_Mutation	SNP	C	C	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr16:57717867C>G	ENST00000333493.4	+	9	1066	c.905C>G	c.(904-906)tCa>tGa	p.S302*	GPR97_ENST00000450388.3_Nonsense_Mutation_p.S182*|GPR97_ENST00000327655.6_Nonsense_Mutation_p.S92*|RP11-405F3.4_ENST00000563062.1_RNA	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	302					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AGGTTCAAGTCAGAAGATGCC	0.597																																						ENST00000333493.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(904-906)tCa>tGa		G protein-coupled receptor 97							66.0	68.0	67.0					16																	57717867		2198	4300	6498	SO:0001587	stop_gained	222487				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57717867C>G	AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"""-"", ""GPCR / Class B : Orphans"""	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.905C>G	16.37:g.57717867C>G	ENSP00000332900:p.Ser302*					GPR97_ENST00000327655.6_Nonsense_Mutation_p.S92*|RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Nonsense_Mutation_p.S182*	p.S302*	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN			9	1066	+			302					Q6ZMF4|Q86SL9|Q8IZF1	Nonsense_Mutation	SNP	ENST00000333493.4	37	c.905C>G	CCDS10786.1	.	.	.	.	.	.	.	.	.	.	C	38	6.819974	0.97861	.	.	ENSG00000182885	ENST00000333493;ENST00000327655;ENST00000450388	.	.	.	4.99	3.97	0.46021	.	0.287902	0.24985	N	0.034030	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	6.8883	0.24214	0.2927:0.6222:0.0:0.0851	.	.	.	.	X	302;92;182	.	ENSP00000331199:S92X	S	+	2	0	GPR97	56275368	0.997000	0.39634	0.999000	0.59377	0.991000	0.79684	3.623000	0.54224	2.307000	0.77673	0.591000	0.81541	TCA		0.597	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257333.2	NM_170776		13	49	0	0	0	1	0	13	49				
EPB41L2	2037	broad.mit.edu	37	6	131199330	131199330	+	Missense_Mutation	SNP	G	G	A	rs374441396		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr6:131199330G>A	ENST00000337057.3	-	14	2138	c.1957C>T	c.(1957-1959)Cgc>Tgc	p.R653C	EPB41L2_ENST00000530757.1_Missense_Mutation_p.R52C|EPB41L2_ENST00000368128.2_Missense_Mutation_p.R653C|EPB41L2_ENST00000524581.1_Missense_Mutation_p.R31C|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000527411.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000529208.1_Intron|EPB41L2_ENST00000392427.3_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	653	Spectrin--actin-binding.				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)		ATAAAATTGCGCTTGAGTTCA	0.458																																						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.(1957-1959)Cgc>Tgc		erythrocyte membrane protein band 4.1-like 2		G	,,,,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	205.0	172.0	183.0		,,,,1957	5.7	1.0	6		183	0,8600		0,0,4300	no	intron,intron,intron,intron,missense	EPB41L2	NM_001135554.1,NM_001135555.2,NM_001199388.1,NM_001199389.1,NM_001431.3	,,,,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,probably-damaging	,,,,653/1006	131199330	1,13005	2203	4300	6503	SO:0001583	missense	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131199330G>A	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.1957C>T	6.37:g.131199330G>A	ENSP00000338481:p.Arg653Cys					EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000530757.1_Missense_Mutation_p.R52C|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000368128.2_Missense_Mutation_p.R653C|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000527411.1_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000529208.1_Intron|EPB41L2_ENST00000524581.1_Missense_Mutation_p.R31C|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000527659.1_Intron	p.R653C	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	14	2138	-	Breast(56;0.0639)		653			Spectrin--actin-binding.		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	37	c.1957C>T	CCDS5141.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.437709|4.437709	0.83885|0.83885	2.27E-4|2.27E-4	0.0|0.0	ENSG00000079819|ENSG00000079819	ENST00000456097|ENST00000337057;ENST00000530757;ENST00000368128;ENST00000524581;ENST00000527017;ENST00000527423;ENST00000525198	.|D;D;D;D;T	.|0.89196	.|-2.48;-1.86;-2.48;-2.02;1.8	5.74|5.74	5.74|5.74	0.90152|0.90152	.|SAB (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94231|0.94231	0.8148|0.8148	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.975;0.999	D|D	0.93859|0.93859	0.7152|0.7152	5|10	.|0.62326	.|D	.|0.03	.|.	19.9254|19.9254	0.97100|0.97100	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|653;31	.|O43491;Q6R5J7	.|E41L2_HUMAN;.	V|C	143|653;52;653;31;31;52;31	.|ENSP00000338481:R653C;ENSP00000436349:R52C;ENSP00000357110:R653C;ENSP00000437207:R31C;ENSP00000437295:R52C	.|ENSP00000338481:R653C	A|R	-|-	2|1	0|0	EPB41L2|EPB41L2	131241023|131241023	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.014000|6.014000	0.70784|0.70784	2.710000|2.710000	0.92621|0.92621	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.458	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			20	28	0	0	0	1	0	20	28				
GET4	51608	broad.mit.edu	37	7	933563	933563	+	Missense_Mutation	SNP	T	T	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr7:933563T>G	ENST00000265857.3	+	8	944	c.850T>G	c.(850-852)Ttc>Gtc	p.F284V	GET4_ENST00000407192.1_Missense_Mutation_p.F231V	NM_015949.2	NP_057033.2	Q7L5D6	GET4_HUMAN	golgi to ER traffic protein 4 homolog (S. cerevisiae)	284					tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)				breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						ACAGCTGTTCTTCGGCGTCCC	0.692																																						ENST00000407192.1																			0				breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(691-693)Ttc>Gtc		golgi to ER traffic protein 4 homolog (S. cerevisiae)							49.0	45.0	46.0					7																	933563		2202	4299	6501	SO:0001583	missense	51608				tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	protein binding	g.chr7:933563T>G	AK023560	CCDS5317.1	7p22.3	2010-08-05	2010-03-24	2010-03-24	ENSG00000239857	ENSG00000239857			21690	protein-coding gene	gene with protein product	"""CGI-20 protein"", ""conserved edge protein"", ""transmembrane domain recognition complex, 35kDa"""	612056	"""chromosome 7 open reading frame 20"""	C7orf20		10810093, 20106980, 20676083	Standard	NM_015949		Approved	CGI-20, H_NH1244M04.5, CEE, TRC35	uc003sjl.1	Q7L5D6	OTTHUMG00000112459	ENST00000265857.3:c.850T>G	7.37:g.933563T>G	ENSP00000265857:p.Phe284Val					GET4_ENST00000265857.3_Missense_Mutation_p.F284V	p.F231V			Q7L5D6	GET4_HUMAN			7	3208	+			284					A4D2Q1|B3KNC7|Q9UFC9|Q9Y309	Missense_Mutation	SNP	ENST00000265857.3	37	c.691T>G	CCDS5317.1	.	.	.	.	.	.	.	.	.	.	t	20.2	3.942696	0.73672	.	.	ENSG00000239857	ENST00000265857;ENST00000407192	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.84042	0.5385	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87512	0.2440	9	0.87932	D	0	-34.951	14.6269	0.68626	0.0:0.0:0.0:1.0	.	284	Q7L5D6	GET4_HUMAN	V	284;231	.	ENSP00000265857:F284V	F	+	1	0	GET4	900089	1.000000	0.71417	0.990000	0.47175	0.008000	0.06430	7.415000	0.80131	1.860000	0.53959	0.398000	0.26397	TTC		0.692	GET4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000231930.1	NM_015949		12	34	0	0	0	1	0	12	34				
CELA2B	51032	broad.mit.edu	37	1	15812530	15812530	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:15812530T>C	ENST00000375910.3	+	6	653	c.628T>C	c.(628-630)Tgc>Cgc	p.C210R		NM_015849.2	NP_056933	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	210	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						TGGCGTGATATGCACCTGCAA	0.562																																						ENST00000375910.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						c.(628-630)Tgc>Cgc		chymotrypsin-like elastase family, member 2B							164.0	163.0	163.0					1																	15812530		2203	4300	6503	SO:0001583	missense	51032				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:15812530T>C		CCDS30605.1	1p36.21	2009-07-09			ENSG00000215704	ENSG00000215704			29995	protein-coding gene	gene with protein product	"""pancreatic elastase IIB"""	609444				3646943, 16327289	Standard	NM_015849		Approved	RP11-265F14.2, ELA2B	uc001awl.3	P08218	OTTHUMG00000002259	ENST00000375910.3:c.628T>C	1.37:g.15812530T>C	ENSP00000365075:p.Cys210Arg						p.C210R	NM_015849.2	NP_056933.2	P08218	CEL2B_HUMAN			6	653	+			210			Peptidase S1.		Q14D16|Q6ISM5|Q96QV5	Missense_Mutation	SNP	ENST00000375910.3	37	c.628T>C	CCDS30605.1	.	.	.	.	.	.	.	.	.	.	T	4.091	0.014874	0.07959	.	.	ENSG00000215704	ENST00000375910	D	0.92495	-3.05	4.25	0.127	0.14727	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.108239	0.40554	U	0.001062	T	0.77519	0.4142	N	0.01874	-0.695	0.39421	D	0.966918	B	0.13594	0.008	B	0.14023	0.01	T	0.65936	-0.6047	10	0.87932	D	0	.	9.8845	0.41253	0.0:0.0:0.5332:0.4668	.	210	P08218	CEL2B_HUMAN	R	210	ENSP00000365075:C210R	ENSP00000365075:C210R	C	+	1	0	CELA2B	15685117	1.000000	0.71417	0.121000	0.21740	0.001000	0.01503	2.806000	0.47947	-0.193000	0.10415	-0.703000	0.03666	TGC		0.562	CELA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006448.1	NM_015849		55	173	0	0	0	1	0	55	173				
MT-CO1	4512	broad.mit.edu	37	M	6360	6360	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chrM:6360G>A	ENST00000361624.2	+	1	457	c.457G>A	c.(457-459)Gca>Aca	p.A153T	MT-ATP8_ENST00000361851.1_5'Flank|MT-ATP6_ENST00000361899.2_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-TM_ENST00000387377.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-CO2_ENST00000361739.1_5'Flank|MT-TI_ENST00000387365.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	153					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						CCTTACACCTAGCAGGTGTCT	0.502																																						ENST00000361624.2																			0				breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						c.(457-459)Gca>Aca		mitochondrially encoded cytochrome c oxidase I																																				SO:0001583	missense	4512							g.chrM:6360G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.457G>A	M.37:g.6360G>A	ENSP00000354499:p.Ala153Thr						p.153_153insT							1	457	+								Q34770	Missense_Mutation	SNP	ENST00000361624.2	37	c.457G>A																																																																																					0.502	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024028		6	383	0	0	0	1	0	6	383				
SIAH1	6477	broad.mit.edu	37	16	48395562	48395562	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr16:48395562C>G	ENST00000380006.2	-	1	2231	c.778G>C	c.(778-780)Gac>Cac	p.D260H	LONP2_ENST00000564259.1_3'UTR|SIAH1_ENST00000394725.2_Missense_Mutation_p.D260H|SIAH1_ENST00000356721.3_Missense_Mutation_p.D291H			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	260	SBD.				anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell cycle (GO:0007049)|nervous system development (GO:0007399)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein catabolic process (GO:0030163)|protein destabilization (GO:0031648)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	beta-catenin destruction complex (GO:0030877)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				ATGCTGGTGTCAAAGACTAGA	0.418																																						ENST00000380006.2																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7						c.(778-780)Gac>Cac		siah E3 ubiquitin protein ligase 1							65.0	58.0	61.0					16																	48395562		2200	4300	6500	SO:0001583	missense	6477				axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:48395562C>G	U76247	CCDS10735.1, CCDS32444.1	16q12.1	2013-06-03	2012-02-23		ENSG00000196470	ENSG00000196470			10857	protein-coding gene	gene with protein product		602212	"""seven in absentia homolog 1 (Drosophila)"""			9403064, 9334332	Standard	NM_001006610		Approved	hSIAH1	uc002efo.1	Q8IUQ4	OTTHUMG00000175417	ENST00000380006.2:c.778G>C	16.37:g.48395562C>G	ENSP00000369343:p.Asp260His					SIAH1_ENST00000394725.2_Missense_Mutation_p.D260H|SIAH1_ENST00000356721.3_Missense_Mutation_p.D291H|LONP2_ENST00000564259.1_3'UTR	p.D260H			Q8IUQ4	SIAH1_HUMAN			1	2231	-		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)	260			SBD.		A0FKF3|O43269|Q49A58|Q92880	Missense_Mutation	SNP	ENST00000380006.2	37	c.778G>C	CCDS10735.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954957	0.73902	.	.	ENSG00000196470	ENST00000356721;ENST00000394725;ENST00000380006	T;T	0.26957	1.7;1.7	5.85	5.85	0.93711	TRAF-type (1);Seven-in-absentia protein, TRAF-like domain (1);TRAF-like (1);	0.000000	0.85682	U	0.000000	T	0.56834	0.2012	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.56226	-0.8014	10	0.52906	T	0.07	-20.2348	20.1634	0.98142	0.0:1.0:0.0:0.0	.	260;291	Q8IUQ4;Q8IUQ4-2	SIAH1_HUMAN;.	H	291;260;276	ENSP00000349156:D291H;ENSP00000378214:D260H	ENSP00000349156:D291H	D	-	1	0	SIAH1	46953063	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.818000	0.86416	2.773000	0.95371	0.655000	0.94253	GAC		0.418	SIAH1-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256842.12			11	30	0	0	0	1	0	11	30				
ZFP28	140612	broad.mit.edu	37	19	57065752	57065752	+	Missense_Mutation	SNP	A	A	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr19:57065752A>T	ENST00000301318.3	+	8	1669	c.1598A>T	c.(1597-1599)tAc>tTc	p.Y533F	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	533					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)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		GAGAAACCTTACAAATGTGAT	0.418																																					Ovarian(124;554 1662 19430 21141 52494)	ENST00000301318.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(1597-1599)tAc>tTc		ZFP28 zinc finger protein							59.0	54.0	56.0					19																	57065752		2203	4300	6503	SO:0001583	missense	140612				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57065752A>T		CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.1598A>T	19.37:g.57065752A>T	ENSP00000301318:p.Tyr533Phe					AC007228.11_ENST00000596587.1_RNA	p.Y533F	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN		GBM - Glioblastoma multiforme(193;0.0302)	8	1669	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	533					A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	ENST00000301318.3	37	c.1598A>T	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	A	13.61	2.288030	0.40494	.	.	ENSG00000196867	ENST00000301318	T	0.18338	2.22	4.3	4.3	0.51218	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41712	D	0.000838	T	0.17662	0.0424	N	0.03000	-0.44	0.80722	D	1	D	0.58970	0.984	D	0.77557	0.99	T	0.36553	-0.9743	10	0.36615	T	0.2	.	12.8473	0.57837	1.0:0.0:0.0:0.0	.	533	Q8NHY6	ZFP28_HUMAN	F	533	ENSP00000301318:Y533F	ENSP00000301318:Y533F	Y	+	2	0	ZFP28	61757564	0.019000	0.18553	0.998000	0.56505	0.998000	0.95712	0.788000	0.26872	1.935000	0.56089	0.528000	0.53228	TAC		0.418	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828		5	41	0	0	0	1	0	5	41				
MYT1L	23040	broad.mit.edu	37	2	1926933	1926933	+	Missense_Mutation	SNP	T	T	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr2:1926933T>G	ENST00000399161.2	-	10	1355	c.608A>C	c.(607-609)aAg>aCg	p.K203T	MYT1L_ENST00000428368.2_Missense_Mutation_p.K203T	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	203					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TAACAATGACTTGGCCACCAG	0.423																																						ENST00000399161.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(607-609)aAg>aCg		myelin transcription factor 1-like							111.0	103.0	106.0					2																	1926933		1942	4164	6106	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1926933T>G	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.608A>C	2.37:g.1926933T>G	ENSP00000382114:p.Lys203Thr					MYT1L_ENST00000428368.2_Missense_Mutation_p.K203T	p.K203T	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	10	1355	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	203					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.608A>C		.	.	.	.	.	.	.	.	.	.	T	17.19	3.327144	0.60743	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.53206	0.63;0.63	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.59252	0.2180	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.991;0.997	T	0.58629	-0.7603	10	0.44086	T	0.13	-59.5166	16.3721	0.83368	0.0:0.0:0.0:1.0	.	203;203	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	T	203;151;203	ENSP00000382114:K203T;ENSP00000396103:K203T	ENSP00000295067:K151T	K	-	2	0	MYT1L	1905940	1.000000	0.71417	1.000000	0.80357	0.465000	0.32709	7.961000	0.87903	2.257000	0.74773	0.533000	0.62120	AAG		0.423	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		4	33	0	0	0	1	0	4	33				
OR10Z1	128368	broad.mit.edu	37	1	158576730	158576730	+	Missense_Mutation	SNP	T	T	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:158576730T>G	ENST00000361284.1	+	1	502	c.502T>G	c.(502-504)Ttc>Gtc	p.F168V		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CCACCTCTCATTCTGCAGCTC	0.498																																						ENST00000361284.1																			0				endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37						c.(502-504)Ttc>Gtc		olfactory receptor, family 10, subfamily Z, member 1							114.0	106.0	109.0					1																	158576730		2203	4300	6503	SO:0001583	missense	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158576730T>G	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.502T>G	1.37:g.158576730T>G	ENSP00000354707:p.Phe168Val						p.F168V	NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN			1	502	+	all_hematologic(112;0.0378)		168					Q5VYL0|Q6IFR7	Missense_Mutation	SNP	ENST00000361284.1	37	c.502T>G	CCDS30901.1	.	.	.	.	.	.	.	.	.	.	T	16.72	3.200503	0.58126	.	.	ENSG00000198967	ENST00000539185;ENST00000361284	T	0.00145	8.67	5.36	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43110	D	0.000604	T	0.00300	0.0009	M	0.94101	3.495	0.22639	N	0.9989	D	0.89917	1.0	D	0.80764	0.994	T	0.12116	-1.0560	10	0.87932	D	0	.	10.5606	0.45144	0.0:0.0769:0.0:0.9231	.	168	Q8NGY1	O10Z1_HUMAN	V	8;168	ENSP00000354707:F168V	ENSP00000354707:F168V	F	+	1	0	OR10Z1	156843354	0.018000	0.18449	0.740000	0.30986	0.864000	0.49448	1.994000	0.40757	1.044000	0.40200	0.533000	0.62120	TTC		0.498	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		27	107	0	0	0	1	0	27	107				
MIOS	54468	broad.mit.edu	37	7	7625282	7625282	+	Missense_Mutation	SNP	A	A	G	rs370610296		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr7:7625282A>G	ENST00000340080.4	+	7	2085	c.1664A>G	c.(1663-1665)aAt>aGt	p.N555S	MIOS_ENST00000405785.1_Missense_Mutation_p.N555S	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	555						lysosomal membrane (GO:0005765)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTGAATCTCAATGTGGTAGCA	0.368																																						ENST00000340080.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1663-1665)aAt>aGt		missing oocyte, meiosis regulator, homolog (Drosophila)		A	SER/ASN	0,3688		0,0,1844	139.0	130.0	133.0		1664	5.4	1.0	7		133	1,8185		0,1,4092	no	missense	MIOS	NM_019005.3	46	0,1,5936	GG,GA,AA		0.0122,0.0,0.0084	benign	555/876	7625282	1,11873	1844	4093	5937	SO:0001583	missense	54468							g.chr7:7625282A>G		CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"""WD repeat-containing protein mio"""	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.1664A>G	7.37:g.7625282A>G	ENSP00000339881:p.Asn555Ser					MIOS_ENST00000405785.1_Missense_Mutation_p.N555S	p.N555S	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN			7	2085	+			555					B2RTV6|O75216|Q7L551|Q9H092	Missense_Mutation	SNP	ENST00000340080.4	37	c.1664A>G	CCDS43554.1	.	.	.	.	.	.	.	.	.	.	A	17.85	3.491305	0.64074	0.0	1.22E-4	ENSG00000164654	ENST00000340080;ENST00000405785	T;T	0.41758	0.99;0.99	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.32406	0.0828	L	0.29908	0.895	0.80722	D	1	B	0.28820	0.224	B	0.32805	0.153	T	0.08994	-1.0695	10	0.08599	T	0.76	-29.3548	15.832	0.78760	1.0:0.0:0.0:0.0	.	555	Q9NXC5	MIO_HUMAN	S	555	ENSP00000339881:N555S;ENSP00000384088:N555S	ENSP00000339881:N555S	N	+	2	0	MIOS	7591807	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.084000	0.76866	2.197000	0.70478	0.533000	0.62120	AAT		0.368	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1	NM_019005		53	66	0	0	0	1	0	53	66				
FLT1	2321	broad.mit.edu	37	13	28931761	28931761	+	Silent	SNP	T	T	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr13:28931761T>C	ENST00000282397.4	-	15	2429	c.2178A>G	c.(2176-2178)gaA>gaG	p.E726E		NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	726	Ig-like C2-type 7.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GATAGACACCTTCATCCTCTT	0.453																																						ENST00000282397.4																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(2176-2178)gaA>gaG		fms-related tyrosine kinase 1	Sunitinib(DB01268)						211.0	194.0	200.0					13																	28931761		2203	4300	6503	SO:0001819	synonymous_variant	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28931761T>C	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2178A>G	13.37:g.28931761T>C							p.E726E	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	15	2429	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	726			Ig-like C2-type 7.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Silent	SNP	ENST00000282397.4	37	c.2178A>G	CCDS9330.1																																																																																				0.453	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			20	71	0	0	0	1	0	20	71				
CYP4F2	8529	broad.mit.edu	37	19	15990171	15990171	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr19:15990171A>C	ENST00000221700.6	-	12	1477	c.1382T>G	c.(1381-1383)tTc>tGc	p.F461C		NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCCTGCCGAGAAGGGAATAAA	0.577																																						ENST00000221700.5																			0				NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(1381-1383)tTc>tGc		cytochrome P450, family 4, subfamily F, polypeptide 2							143.0	147.0	145.0					19																	15990171		2203	4300	6503	SO:0001583	missense	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:15990171A>C	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.1382T>G	19.37:g.15990171A>C	ENSP00000221700:p.Phe461Cys					CYP4F2_ENST00000592328.1_Missense_Mutation_p.F461C	p.F461C	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN			12	1477	-			461						Missense_Mutation	SNP	ENST00000221700.6	37	c.1382T>G	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	a	15.46	2.839388	0.51057	.	.	ENSG00000186115	ENST00000221700;ENST00000392846	D	0.96365	-3.99	3.05	2.02	0.26589	Cytochrome P450, conserved site (1);	0.000000	0.64402	U	0.000002	D	0.98532	0.9510	H	0.98525	4.255	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96726	0.9536	10	0.87932	D	0	.	6.4196	0.21736	0.8707:0.0:0.1293:0.0	.	461	P78329	CP4F2_HUMAN	C	461;312	ENSP00000221700:F461C	ENSP00000221700:F461C	F	-	2	0	CYP4F2	15851171	1.000000	0.71417	0.981000	0.43875	0.870000	0.49936	4.952000	0.63618	0.365000	0.24400	0.402000	0.26972	TTC		0.577	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		7	328	0	0	0	1	0	7	328				
MT-ND6	4541	broad.mit.edu	37	M	14261	14261	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chrM:14261T>C	ENST00000361681.2	-	1	412	c.413A>G	c.(412-414)gAt>gGt	p.D138G	MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-TH_ENST00000387441.1_RNA			P03923	NU6M_HUMAN	mitochondrially encoded NADH dehydrogenase 6	138					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain (GO:0070469)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						CACCAATAGGATCCTCCCGAA	0.423																																						ENST00000361681.2																			0				breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						c.(412-414)gAt>gGt		mitochondrially encoded NADH dehydrogenase 6																																				SO:0001583	missense	4541							g.chrM:14261T>C			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198695	ENSG00000198695	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7462	protein-coding gene	gene with protein product	"""complex I ND6 subunit"", ""NADH-ubiquinone oxidoreductase chain 6"""	516006	"""NADH dehydrogenase 6"""	MTND6			Standard			Approved	NAD6, ND6		P03923		ENST00000361681.2:c.413A>G	M.37:g.14261T>C	ENSP00000354665:p.Asp138Gly						p.D138G							1	412	-								Q34774|Q8HG30	Missense_Mutation	SNP	ENST00000361681.2	37	c.413A>G																																																																																					0.423	MT-ND6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024037		286	17	0	0	0	1	0	286	17				
KRT37	8688	broad.mit.edu	37	17	39580586	39580586	+	Missense_Mutation	SNP	G	G	A	rs539645480		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr17:39580586G>A	ENST00000225550.3	-	1	189	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	64	Head.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				AGGCTGGGGCGGCCCAGGGGA	0.642																																						ENST00000225550.3																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25						c.(190-192)Cgc>Tgc		keratin 37							40.0	40.0	40.0					17																	39580586		2203	4300	6503	SO:0001583	missense	8688					intermediate filament	structural molecule activity	g.chr17:39580586G>A	Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6455	protein-coding gene	gene with protein product		604541	"""keratin, hair, acidic, 7"""	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.190C>T	17.37:g.39580586G>A	ENSP00000225550:p.Arg64Cys					AC003958.2_ENST00000432258.1_RNA	p.R64C	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN			1	189	-		Breast(137;0.000496)	64			Head.			Missense_Mutation	SNP	ENST00000225550.3	37	c.190C>T	CCDS32653.1	.	.	.	.	.	.	.	.	.	.	.	15.90	2.970335	0.53614	.	.	ENSG00000108417	ENST00000225550	D	0.82893	-1.66	4.31	-1.92	0.07618	.	0.343196	0.20920	N	0.083299	T	0.80639	0.4661	M	0.69358	2.11	0.20821	N	0.999847	D	0.76494	0.999	P	0.53689	0.732	T	0.71567	-0.4554	10	0.87932	D	0	.	0.4151	0.00447	0.2425:0.1393:0.2611:0.3571	.	64	O76014	KRT37_HUMAN	C	64	ENSP00000225550:R64C	ENSP00000225550:R64C	R	-	1	0	KRT37	36834112	0.000000	0.05858	0.159000	0.22649	0.899000	0.52679	-2.685000	0.00834	-0.578000	0.05959	0.655000	0.94253	CGC		0.642	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	NM_003770		4	97	0	0	0	1	0	4	97				
COLGALT2	23127	broad.mit.edu	37	1	183944241	183944241	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:183944241T>C	ENST00000361927.4	-	3	853	c.482A>G	c.(481-483)gAc>gGc	p.D161G	COLGALT2_ENST00000546159.1_Missense_Mutation_p.D161G	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	161					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)										CAGAATGTAGTCTGACCATTT	0.448																																						ENST00000361927.4																			0											c.(481-483)gAc>gGc		collagen beta(1-O)galactosyltransferase 2							130.0	124.0	126.0					1																	183944241		2203	4300	6503	SO:0001583	missense	23127							g.chr1:183944241T>C	AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 17"", ""glycosyltransferase 25 domain containing 2"""	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.482A>G	1.37:g.183944241T>C	ENSP00000354960:p.Asp161Gly					COLGALT2_ENST00000546159.1_Missense_Mutation_p.D161G	p.D161G	NM_015101.2	NP_055916.1					3	853	-								O60327|Q9BZR0	Missense_Mutation	SNP	ENST00000361927.4	37	c.482A>G	CCDS1360.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.873407	0.91664	.	.	ENSG00000198756	ENST00000546159;ENST00000361927	T;T	0.66815	-0.23;-0.23	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.85669	0.5750	M	0.93016	3.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.89276	0.3608	10	0.72032	D	0.01	.	15.386	0.74703	0.0:0.0:0.0:1.0	.	161;161	F5H3T5;Q8IYK4	.;GT252_HUMAN	G	161	ENSP00000439112:D161G;ENSP00000354960:D161G	ENSP00000354960:D161G	D	-	2	0	GLT25D2	182210864	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.745000	0.85046	2.089000	0.63090	0.528000	0.53228	GAC		0.448	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086128.1	NM_015101		29	45	0	0	0	1	0	29	45				
SPTBN1	6711	broad.mit.edu	37	2	54858342	54858342	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr2:54858342A>C	ENST00000356805.4	+	16	3439	c.3158A>C	c.(3157-3159)aAc>aCc	p.N1053T	SPTBN1_ENST00000333896.5_Missense_Mutation_p.N1040T	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1053					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			ACCCTGAAAAACCGAGAGGCC	0.632																																						ENST00000333896.5																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(3118-3120)aAc>aCc		spectrin, beta, non-erythrocytic 1							69.0	83.0	78.0					2																	54858342		2203	4300	6503	SO:0001583	missense	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54858342A>C		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.3158A>C	2.37:g.54858342A>C	ENSP00000349259:p.Asn1053Thr					SPTBN1_ENST00000356805.4_Missense_Mutation_p.N1053T	p.N1040T	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		15	3504	+			1053					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.3119A>C	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	A	12.35	1.911198	0.33721	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.47869	0.83;0.83	5.56	5.56	0.83823	.	0.196537	0.52532	D	0.000067	T	0.38931	0.1059	L	0.31065	0.9	0.48632	D	0.999685	B;B	0.18741	0.009;0.03	B;B	0.22152	0.022;0.038	T	0.14420	-1.0473	10	0.32370	T	0.25	.	15.727	0.77770	1.0:0.0:0.0:0.0	.	1040;1053	Q01082-3;Q01082	.;SPTB2_HUMAN	T	1053;1040	ENSP00000349259:N1053T;ENSP00000334156:N1040T	ENSP00000334156:N1040T	N	+	2	0	SPTBN1	54711846	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.096000	0.57734	2.118000	0.64928	0.533000	0.62120	AAC		0.632	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			5	129	0	0	0	1	0	5	129				
MMP25	64386	broad.mit.edu	37	16	3107137	3107137	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr16:3107137C>A	ENST00000336577.4	+	5	1002	c.765C>A	c.(763-765)taC>taA	p.Y255*	RP11-473M20.7_ENST00000573130.1_RNA|RP11-473M20.7_ENST00000573878.1_RNA|RP11-473M20.7_ENST00000570949.1_RNA|RP11-473M20.7_ENST00000597579.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA|RP11-473M20.7_ENST00000572427.1_RNA|RP11-473M20.7_ENST00000572222.1_RNA|RP11-473M20.7_ENST00000572574.1_RNA|RP11-473M20.7_ENST00000572930.1_RNA|RP11-473M20.7_ENST00000573953.1_RNA	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25	262					negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14					Marimastat(DB00786)	GGCCCTTCTACCAGGGTCCGG	0.642																																					NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)	ENST00000336577.4																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						c.(763-765)taC>taA		matrix metallopeptidase 25							111.0	115.0	114.0					16																	3107137		2197	4300	6497	SO:0001587	stop_gained	64386				inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr16:3107137C>A	AF145442	CCDS10492.1	16p13.3	2008-02-05	2005-08-08			ENSG00000008516			14246	protein-coding gene	gene with protein product		608482	"""matrix metalloproteinase 25"", ""matrix metallopeptidase-like 1"""	MMPL1, MMP20		10628838, 10706098	Standard	NM_022468		Approved	MT6-MMP	uc002cth.3	Q9NPA2		ENST00000336577.4:c.765C>A	16.37:g.3107137C>A	ENSP00000337816:p.Tyr255*					RP11-473M20.7_ENST00000572574.1_RNA|RP11-473M20.7_ENST00000573878.1_RNA|RP11-473M20.7_ENST00000570949.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA	p.Y255*	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN			5	1002	+			255					Q96F04|Q96TE2	Nonsense_Mutation	SNP	ENST00000336577.4	37	c.765C>A	CCDS10492.1	.	.	.	.	.	.	.	.	.	.	c	24.1	4.488610	0.84854	.	.	ENSG00000008516	ENST00000336577	.	.	.	4.48	3.53	0.40419	.	0.159728	0.29501	N	0.011969	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.9076	0.24317	0.0:0.7887:0.0:0.2113	.	.	.	.	X	255	.	ENSP00000337816:Y255X	Y	+	3	2	MMP25	3047138	1.000000	0.71417	1.000000	0.80357	0.263000	0.26337	2.614000	0.46359	0.882000	0.36016	0.306000	0.20318	TAC		0.642	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437116.1	NM_022468		66	164	1	0	3.57465e-26	1	4.17459e-26	66	164				
DRD3	1814	broad.mit.edu	37	3	113850128	113850128	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr3:113850128C>G	ENST00000460779.1	-	7	1132	c.843G>C	c.(841-843)aaG>aaC	p.K281N	DRD3_ENST00000295881.7_Missense_Mutation_p.K281N|DRD3_ENST00000383673.2_Missense_Mutation_p.K281N|DRD3_ENST00000467632.1_Missense_Mutation_p.K281N	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	281					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AATTCCGAGTCTTCTCCTCTC	0.522																																						ENST00000383673.2																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36						c.(841-843)aaG>aaC		dopamine receptor D3	Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)						196.0	200.0	199.0					3																	113850128		2203	4300	6503	SO:0001583	missense	1814				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	g.chr3:113850128C>G		CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"""GPCR / Class A : Dopamine receptors"""	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.843G>C	3.37:g.113850128C>G	ENSP00000419402:p.Lys281Asn					DRD3_ENST00000460779.1_Missense_Mutation_p.K281N|DRD3_ENST00000467632.1_Missense_Mutation_p.K281N|DRD3_ENST00000295881.7_Missense_Mutation_p.K281N	p.K281N	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN			6	1273	-			281					A1A4V5|Q4VBM8	Missense_Mutation	SNP	ENST00000460779.1	37	c.843G>C	CCDS2978.1	.	.	.	.	.	.	.	.	.	.	C	1.499	-0.552573	0.03996	.	.	ENSG00000151577	ENST00000460779;ENST00000467632;ENST00000383673;ENST00000281274;ENST00000295881	T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69	5.52	1.68	0.24146	GPCR, rhodopsin-like superfamily (1);	0.690014	0.15020	N	0.285022	T	0.51024	0.1650	N	0.25825	0.765	0.09310	N	1	B;B;B;B	0.14012	0.009;0.0;0.0;0.004	B;B;B;B	0.21546	0.035;0.016;0.016;0.012	T	0.30679	-0.9970	10	0.20046	T	0.44	.	4.4273	0.11509	0.0:0.408:0.3095:0.2826	.	281;281;281;281	A1A4V4;A8K8E4;P35462;E9PCM4	.;.;DRD3_HUMAN;.	N	281	ENSP00000419402:K281N;ENSP00000420662:K281N;ENSP00000373169:K281N;ENSP00000295881:K281N	ENSP00000281274:K281N	K	-	3	2	DRD3	115332818	0.000000	0.05858	0.053000	0.19242	0.040000	0.13550	-0.023000	0.12456	0.122000	0.18314	-0.181000	0.13052	AAG		0.522	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3		82	164	0	0	0	1	0	82	164				
ATP11B	23200	broad.mit.edu	37	3	182584220	182584220	+	Silent	SNP	A	A	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr3:182584220A>G	ENST00000323116.5	+	14	1868	c.1608A>G	c.(1606-1608)gaA>gaG	p.E536E		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	536					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			CTCTAGTAGAAGCTGCTGCAA	0.378																																						ENST00000323116.5																			0				breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41						c.(1606-1608)gaA>gaG		ATPase, class VI, type 11B							77.0	77.0	77.0					3																	182584220		2203	4300	6503	SO:0001819	synonymous_variant	23200				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr3:182584220A>G	AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.1608A>G	3.37:g.182584220A>G							p.E536E	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)		14	1868	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		536					Q96FN1|Q9UKK7	Silent	SNP	ENST00000323116.5	37	c.1608A>G	CCDS33896.1	.	.	.	.	.	.	.	.	.	.	A	1.534	-0.543518	0.04053	.	.	ENSG00000058063	ENST00000498086	.	.	.	5.28	1.18	0.20946	.	.	.	.	.	T	0.57858	0.2082	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51988	-0.8635	4	.	.	.	.	9.7536	0.40490	0.7736:0.0:0.2264:0.0	.	.	.	.	R	337	.	.	K	+	2	0	ATP11B	184066914	1.000000	0.71417	1.000000	0.80357	0.194000	0.23727	2.724000	0.47285	0.315000	0.23110	0.477000	0.44152	AAG		0.378	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616		33	77	0	0	0	1	0	33	77				
UGT1A4	54657	broad.mit.edu	37	2	234628129	234628129	+	Silent	SNP	C	C	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr2:234628129C>A	ENST00000373409.3	+	1	706	c.663C>A	c.(661-663)tcC>tcA	p.S221S	UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron	NM_007120.2	NP_009051.1	P22310	UD14_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A4	221					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	Asenapine(DB06216)|Clozapine(DB00363)|Ezogabine(DB04953)|Lamotrigine(DB00555)|Midazolam(DB00683)|Paricalcitol(DB00910)|Tamoxifen(DB00675)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)	TGGCCCTGTCCTACATTTGCC	0.463																																					Melanoma(99;1011 1962 13201 26492)	ENST00000373409.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(661-663)tcC>tcA									235.0	219.0	224.0					2																	234628129		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr2:234628129C>A	M84128	CCDS33405.1	2q37.1	2014-01-10	2005-07-20		ENSG00000244474	ENSG00000244474		"""UDP glucuronosyltransferases"""	12536	other	complex locus constituent		606429	"""UDP glycosyltransferase 1 family, polypeptide A4"""			9295054, 1339448	Standard	NM_007120		Approved	HUG-BR2, UGT1D	uc002vux.3	P22310	OTTHUMG00000059119	ENST00000373409.3:c.663C>A	2.37:g.234628129C>A						UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron	p.S221S	NM_007120.2	NP_009051.1				Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	1	706	+		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)						B2R937|B8K288|Q5DT00	Silent	SNP	ENST00000373409.3	37	c.663C>A	CCDS33405.1																																																																																				0.463	UGT1A4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130984.1	NM_007120		28	183	1	0	2.48779e-11	1	2.71544e-11	28	183				
ABCA13	154664	broad.mit.edu	37	7	48319344	48319344	+	Silent	SNP	T	T	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr7:48319344T>C	ENST00000435803.1	+	18	8577	c.8553T>C	c.(8551-8553)atT>atC	p.I2851I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2851					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTTTGAGATTTTCATTAAAG	0.348																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(8551-8553)atT>atC		ATP-binding cassette, sub-family A (ABC1), member 13							94.0	96.0	95.0					7																	48319344		1808	4080	5888	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48319344T>C	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.8553T>C	7.37:g.48319344T>C							p.I2851I	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			18	8577	+			2851					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.8553T>C	CCDS47584.1																																																																																				0.348	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		24	94	0	0	0	1	0	24	94				
ZFP90	146198	broad.mit.edu	37	16	68597927	68597927	+	Missense_Mutation	SNP	A	A	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr16:68597927A>G	ENST00000570495.1	+	5	1529	c.1237A>G	c.(1237-1239)Atg>Gtg	p.M413V	ZFP90_ENST00000563169.2_Missense_Mutation_p.M413V|ZFP90_ENST00000398253.2_Missense_Mutation_p.M413V			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	413					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		TTATAAACATATGAGGATTCA	0.428																																						ENST00000570495.1																			0				breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(1237-1239)Atg>Gtg		ZFP90 zinc finger protein							59.0	59.0	59.0					16																	68597927		1997	4179	6176	SO:0001583	missense	146198				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:68597927A>G	AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"""Zinc fingers, C2H2-type"", ""-"""	23329	protein-coding gene	gene with protein product		609451	"""zinc finger protein 90 homolog (mouse)"""			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.1237A>G	16.37:g.68597927A>G	ENSP00000460547:p.Met413Val					ZFP90_ENST00000563169.2_Missense_Mutation_p.M413V|ZFP90_ENST00000398253.2_Missense_Mutation_p.M413V|RP11-615I2.7_ENST00000571720.1_RNA	p.M413V			Q8TF47	ZFP90_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)	5	1529	+		Ovarian(137;0.192)	413					B2RU00|B3KVE7|Q49AD1|Q96MQ6	Missense_Mutation	SNP	ENST00000570495.1	37	c.1237A>G	CCDS42183.1	.	.	.	.	.	.	.	.	.	.	A	11.73	1.725302	0.30593	.	.	ENSG00000184939	ENST00000398253	T	0.08984	3.03	5.85	2.19	0.27852	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06690	0.0171	L	0.39245	1.2	0.24101	N	0.99587	B	0.27229	0.172	B	0.22386	0.039	T	0.33574	-0.9863	9	0.72032	D	0.01	-9.4439	3.2104	0.06680	0.6361:0.1453:0.0788:0.1398	.	413	Q8TF47	ZFP90_HUMAN	V	413	ENSP00000381304:M413V	ENSP00000381304:M413V	M	+	1	0	ZFP90	67155428	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	1.815000	0.38981	1.111000	0.41721	0.533000	0.62120	ATG		0.428	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375		13	67	0	0	0	1	0	13	67				
CLCNKA	1187	broad.mit.edu	37	1	16356552	16356552	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:16356552G>A	ENST00000331433.4	+	14	1409	c.1390G>A	c.(1390-1392)Ggg>Agg	p.G464R	CLCNKA_ENST00000375692.1_Missense_Mutation_p.G464R|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Missense_Mutation_p.G464R|CLCNKA_ENST00000439316.2_Missense_Mutation_p.G421R			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	464					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|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)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)	p.Y466fs*25(1)		breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CATCATGCCCGGGGGGTATGC	0.657																																						ENST00000375692.1																			1	Insertion - Frameshift(1)	p.Y466fs*25(1)	large_intestine(1)	breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19						c.(1390-1392)Ggg>Agg		chloride channel, voltage-sensitive Ka	Niflumic Acid(DB04552)						44.0	39.0	40.0					1																	16356552		2203	4299	6502	SO:0001583	missense	0				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16356552G>A		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.1390G>A	1.37:g.16356552G>A	ENSP00000332771:p.Gly464Arg					CLCNKA_ENST00000420078.1_Missense_Mutation_p.G464R|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.G421R|CLCNKA_ENST00000331433.4_Missense_Mutation_p.G464R	p.G464R			P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	15	1518	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	464					B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	ENST00000331433.4	37	c.1390G>A	CCDS167.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.735735	0.49045	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.95171	-3.63;-3.63;-3.63;-3.63	3.3	3.3	0.37823	Chloride channel, core (2);	0.168039	0.52532	D	0.000070	D	0.97321	0.9124	M	0.90595	3.13	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.999;0.999	D	0.97752	1.0215	10	0.87932	D	0	.	12.4254	0.55544	0.0:0.0:1.0:0.0	.	200;421;464;464	B4DE56;E7EPH6;Q5T5Q4;P51800	.;.;.;CLCKA_HUMAN	R	464;464;421;464	ENSP00000364844:G464R;ENSP00000410353:G464R;ENSP00000414445:G421R;ENSP00000332771:G464R	ENSP00000332771:G464R	G	+	1	0	CLCNKA	16229139	1.000000	0.71417	0.239000	0.24122	0.003000	0.03518	7.358000	0.79466	1.821000	0.53095	0.313000	0.20887	GGG		0.657	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1			4	38	0	0	0	1	0	4	38				
TRIP12	9320	broad.mit.edu	37	2	230667108	230667108	+	Silent	SNP	A	A	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr2:230667108A>G	ENST00000283943.5	-	20	3019	c.2841T>C	c.(2839-2841)tgT>tgC	p.C947C	TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389045.3_Silent_p.C677C|TRIP12_ENST00000389044.4_Silent_p.C995C	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	947					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		ATCCATTCGTACATGCCTTTG	0.473																																						ENST00000283943.5																			0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(2839-2841)tgT>tgC		thyroid hormone receptor interactor 12							147.0	130.0	136.0					2																	230667108		2203	4300	6503	SO:0001819	synonymous_variant	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230667108A>G	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.2841T>C	2.37:g.230667108A>G						TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389045.3_Silent_p.C677C|TRIP12_ENST00000389044.4_Silent_p.C995C	p.C947C	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	20	3019	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	947					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Silent	SNP	ENST00000283943.5	37	c.2841T>C	CCDS33391.1																																																																																				0.473	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		10	89	0	0	0	1	0	10	89				
COL5A1	1289	broad.mit.edu	37	9	137620521	137620521	+	Silent	SNP	G	G	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr9:137620521G>T	ENST00000371817.3	+	6	1206	c.792G>T	c.(790-792)acG>acT	p.T264T		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	264	Nonhelical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TTCAGTACACGGAAGGAGACG	0.612																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(790-792)acG>acT		collagen, type V, alpha 1							119.0	124.0	122.0					9																	137620521		2203	4300	6503	SO:0001819	synonymous_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137620521G>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.792G>T	9.37:g.137620521G>T							p.T264T	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	6	1206	+		Myeloproliferative disorder(178;0.0341)	264			Nonhelical region.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.792G>T	CCDS6982.1																																																																																				0.612	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		36	155	1	0	1.06647e-15	1	1.20338e-15	36	155				
ZFHX4	79776	broad.mit.edu	37	8	77767179	77767179	+	Silent	SNP	T	T	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr8:77767179T>C	ENST00000521891.2	+	10	8470	c.8022T>C	c.(8020-8022)caT>caC	p.H2674H	ZFHX4_ENST00000050961.6_Silent_p.H2629H|ZFHX4_ENST00000455469.2_Silent_p.H2629H|ZFHX4_ENST00000518282.1_Silent_p.H2648H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2629					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CACAGTCTCATAAACGGTGTC	0.542										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(8020-8022)caT>caC		zinc finger homeobox 4							59.0	60.0	60.0					8																	77767179		1938	4148	6086	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77767179T>C		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8022T>C	8.37:g.77767179T>C		HNSCC(33;0.089)				ZFHX4_ENST00000455469.2_Silent_p.H2629H|ZFHX4_ENST00000050961.6_Silent_p.H2629H|ZFHX4_ENST00000518282.1_Silent_p.H2648H	p.H2674H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8470	+			2629					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.8022T>C	CCDS47878.2																																																																																				0.542	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		23	96	0	0	0	1	0	23	96				
ASCL1	429	broad.mit.edu	37	12	103352601	103352601	+	Silent	SNP	C	C	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr12:103352601C>A	ENST00000266744.3	+	1	1138	c.579C>A	c.(577-579)atC>atA	p.I193I		NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN	achaete-scute family bHLH transcription factor 1	193					adrenal chromaffin cell differentiation (GO:0061104)|carotid body glomus cell differentiation (GO:0061103)|cell maturation (GO:0048469)|cellular response to magnetism (GO:0071259)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|cerebral cortex GABAergic interneuron differentiation (GO:0021892)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|lung epithelial cell differentiation (GO:0060487)|lung neuroendocrine cell differentiation (GO:0061100)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroblast fate determination (GO:0007400)|neuroblast proliferation (GO:0007405)|neurogenesis (GO:0022008)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron fate commitment (GO:0003359)|Notch signaling pathway (GO:0007219)|olfactory pit development (GO:0060166)|oligodendrocyte development (GO:0014003)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial cell differentiation (GO:0030856)|regulation of gene expression (GO:0010468)|regulation of mitotic cell cycle (GO:0007346)|regulation of timing of subpallium neuron differentiation (GO:0060165)|response to epidermal growth factor (GO:0070849)|response to folic acid (GO:0051593)|response to lithium ion (GO:0010226)|response to retinoic acid (GO:0032526)|spinal cord association neuron differentiation (GO:0021527)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|stomach neuroendocrine cell differentiation (GO:0061102)|subpallium neuron fate commitment (GO:0060163)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)|vestibular nucleus development (GO:0021750)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)			NS(3)|large_intestine(1)|lung(1)	5						CGCCCACCATCTCCCCCAACT	0.672																																						ENST00000266744.3																			0				NS(3)|large_intestine(1)|lung(1)	5						c.(577-579)atC>atA		achaete-scute family bHLH transcription factor 1							36.0	39.0	38.0					12																	103352601		2203	4299	6502	SO:0001819	synonymous_variant	429				cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity	g.chr12:103352601C>A	L08424	CCDS31886.1	12q22-q23	2013-10-17	2013-10-17			ENSG00000139352		"""Basic helix-loop-helix proteins"""	738	protein-coding gene	gene with protein product		100790	"""achaete-scute complex (Drosophila) homolog-like 1"", ""achaete-scute complex-like 1 (Drosophila)"", ""achaete-scute complex homolog 1 (Drosophila)"""			8390674	Standard	NM_004316		Approved	ASH1, HASH1, bHLHa46	uc001tjr.4	P50553		ENST00000266744.3:c.579C>A	12.37:g.103352601C>A							p.I193I	NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN			1	1138	+			193					A8K3C4|Q9BQ30	Silent	SNP	ENST00000266744.3	37	c.579C>A	CCDS31886.1																																																																																				0.672	ASCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406707.1			17	52	1	0	1.99824e-07	1	2.15294e-07	17	52				
PAQR7	164091	broad.mit.edu	37	1	26190027	26190027	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:26190027G>T	ENST00000374296.3	-	2	970	c.304C>A	c.(304-306)Cca>Aca	p.P102T	RP1-125I3.2_ENST00000455431.1_RNA	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	102					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		AGGGCGTGTGGGTCTCCCCAG	0.612																																					Esophageal Squamous(111;1206 1556 18433 19151 38418)	ENST00000374296.3																			0				breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						c.(304-306)Cca>Aca		progestin and adipoQ receptor family member VII							50.0	54.0	53.0					1																	26190027		2203	4300	6503	SO:0001583	missense	164091				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr1:26190027G>T		CCDS267.1	1p35.3	2012-08-10			ENSG00000182749	ENSG00000182749			23146	protein-coding gene	gene with protein product	"""membrane progestin receptor alpha"""	607779					Standard	NM_178422		Approved	mSR, MPRA	uc001bkx.3	Q86WK9	OTTHUMG00000007373	ENST00000374296.3:c.304C>A	1.37:g.26190027G>T	ENSP00000363414:p.Pro102Thr						p.P102T	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)	2	970	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)	102					A2A2D3|Q5XKF9|Q86VE4	Missense_Mutation	SNP	ENST00000374296.3	37	c.304C>A	CCDS267.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642257	0.47153	.	.	ENSG00000182749	ENST00000374296	T	0.27720	1.65	4.75	2.8	0.32819	.	0.062735	0.64402	N	0.000003	T	0.42314	0.1197	L	0.53249	1.67	0.42364	D	0.992423	D	0.76494	0.999	D	0.68765	0.96	T	0.20773	-1.0265	10	0.20519	T	0.43	-8.9399	8.6452	0.34000	0.0:0.1488:0.5442:0.307	.	102	Q86WK9	MPRA_HUMAN	T	102	ENSP00000363414:P102T	ENSP00000363414:P102T	P	-	1	0	PAQR7	26062614	1.000000	0.71417	0.944000	0.38274	0.959000	0.62525	4.108000	0.57817	0.671000	0.31185	0.655000	0.94253	CCA		0.612	PAQR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019312.1	NM_178422		22	93	1	0	3.62473e-10	1	3.93072e-10	22	93				
NPR1	4881	broad.mit.edu	37	1	153660533	153660533	+	Silent	SNP	C	C	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:153660533C>A	ENST00000368680.3	+	15	2725	c.2253C>A	c.(2251-2253)atC>atA	p.I751I		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	751	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	ATACAGAGATCATCGAGCGGG	0.657																																					Pancreas(141;1349 1870 15144 15830 40702)	ENST00000368680.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(2251-2253)atC>atA		natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)						40.0	41.0	41.0					1																	153660533		2203	4299	6502	SO:0001819	synonymous_variant	4881				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	g.chr1:153660533C>A	BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.2253C>A	1.37:g.153660533C>A							p.I751I	NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		15	2725	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		751			Protein kinase.		B0ZBF0|Q5SR08|Q6P4Q3	Silent	SNP	ENST00000368680.3	37	c.2253C>A	CCDS1051.1																																																																																				0.657	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		62	108	1	0	3.07281e-33	1	3.6138e-33	62	108				
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	166	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		4	Substitution - coding silent(4)	p.S166S(4)	urinary_tract(2)|lung(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(496-498)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414346		1434	3114	4548	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414346G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.498C>T	9.37:g.20414346G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000355930.6_5'UTR	p.S166S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	784	-			166			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.498C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	86	0	0	0	1	0	5	86				
NDUFAF2	91942	broad.mit.edu	37	5	60241050	60241050	+	De_novo_Start_OutOfFrame	SNP	G	G	A	rs200299226	byFrequency	TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr5:60241050G>A	ENST00000296597.5	+	0	95				ERCC8_ENST00000543101.1_5'Flank|NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame|ERCC8_ENST00000426742.2_5'Flank|ERCC8_ENST00000265038.5_5'Flank	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2						negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)	mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				TGCGGGTCCCGCTGCTGGCAG	0.632																																						ENST00000296597.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6								NADH dehydrogenase (ubiquinone) complex I, assembly factor 2							29.0	29.0	29.0					5																	60241050		2203	4300	6503			91942					membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity	g.chr5:60241050G>A	AB183433	CCDS3979.1	5q12.1	2012-10-12	2012-05-08	2008-02-15	ENSG00000164182	ENSG00000164182		"""Mitochondrial respiratory chain complex assembly factors"""	28086	protein-coding gene	gene with protein product	"""Myc-induced mitochondrial protein"""	609653	"""NDUFA12-like"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2"""	NDUFA12L		15774466, 16200211, 17383918	Standard	NM_174889		Approved	B17.2L, MMTN, mimitin	uc003jsp.4	Q8N183	OTTHUMG00000131221	ENST00000296597.5:c.-33G>A	5.37:g.60241050G>A						NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame		NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN			0	95	+		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)						A8K5I1	Translation_Start_Site	SNP	ENST00000296597.5	37		CCDS3979.1																																																																																				0.632	NDUFAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253965.1	NM_174889		3	23	0	0	0	1	0	3	23				
HOXD9	3235	broad.mit.edu	37	2	176987826	176987826	+	Silent	SNP	C	C	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr2:176987826C>T	ENST00000249499.6	+	1	739	c.330C>T	c.(328-330)tcC>tcT	p.S110S	HOXD-AS2_ENST00000440016.2_RNA	NM_014213.3	NP_055028.3	P28356	HXD9_HUMAN	homeobox D9	110					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal system morphogenesis (GO:0048704)|hindlimb morphogenesis (GO:0035137)|mammary gland development (GO:0030879)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CCTCTGCCTCCGAGCCCGGCC	0.796																																					GBM(47;924 952 7959 9248 12176)	ENST00000249499.6																			0				endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10						c.(328-330)tcC>tcT		homeobox D9							3.0	4.0	4.0					2																	176987826		1402	2760	4162	SO:0001819	synonymous_variant	3235					nucleus	sequence-specific DNA binding	g.chr2:176987826C>T		CCDS2267.2	2q31.1	2011-06-20	2005-12-22		ENSG00000128709	ENSG00000128709		"""Homeoboxes / ANTP class : HOXL subclass"""	5140	protein-coding gene	gene with protein product		142982	"""homeo box D9"""	HOX4C, HOX4		1973146, 1358459	Standard	NM_014213		Approved		uc010zex.2	P28356	OTTHUMG00000132516	ENST00000249499.6:c.330C>T	2.37:g.176987826C>T						HOXD-AS2_ENST00000440016.2_RNA	p.S110S	NM_014213.3	NP_055028.3	P28356	HXD9_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)	1	739	+			110					Q86ST1	Silent	SNP	ENST00000249499.6	37	c.330C>T	CCDS2267.2																																																																																				0.796	HOXD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255698.4			6	10	0	0	0	1	0	6	10				
EDNRB	1910	broad.mit.edu	37	13	78475270	78475270	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr13:78475270A>C	ENST00000334286.5	-	4	1110	c.874T>G	c.(874-876)Ttt>Gtt	p.F292V	EDNRB_ENST00000377211.4_Missense_Mutation_p.F382V|EDNRB_ENST00000446573.1_Missense_Mutation_p.F292V	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	292			F -> L (in WS4A). {ECO:0000269|PubMed:12189494}.		aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	AGTGTATAAAAAAATGCAGTG	0.338																																						ENST00000377211.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42	GRCh37	CM021581	EDNRB	M		c.(1144-1146)Ttt>Gtt		endothelin receptor type B	Bosentan(DB00559)						81.0	85.0	84.0					13																	78475270		2203	4300	6503	SO:0001583	missense	1910				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	g.chr13:78475270A>C	L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"""GPCR / Class A : Endothelin receptors"""	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.874T>G	13.37:g.78475270A>C	ENSP00000335311:p.Phe292Val					EDNRB_ENST00000446573.1_Missense_Mutation_p.F292V|EDNRB_ENST00000334286.5_Missense_Mutation_p.F292V	p.F382V	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN		GBM - Glioblastoma multiforme(99;0.0933)	5	1296	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)	292					A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Missense_Mutation	SNP	ENST00000334286.5	37	c.1144T>G	CCDS9461.1	.	.	.	.	.	.	.	.	.	.	A	17.23	3.336916	0.60963	.	.	ENSG00000136160	ENST00000377211;ENST00000446573;ENST00000334286	T;T;T	0.37411	1.2;1.2;1.2	5.55	5.55	0.83447	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.59142	0.2172	M	0.67397	2.05	0.80722	D	1	D;B;D	0.71674	0.998;0.198;0.997	D;B;D	0.77557	0.99;0.171;0.989	T	0.62959	-0.6743	10	0.87932	D	0	-7.5758	15.7059	0.77580	1.0:0.0:0.0:0.0	.	292;382;292	P24530-2;P24530-3;P24530	.;.;EDNRB_HUMAN	V	382;292;292	ENSP00000366416:F382V;ENSP00000403401:F292V;ENSP00000335311:F292V	ENSP00000335311:F292V	F	-	1	0	EDNRB	77373271	1.000000	0.71417	0.911000	0.35937	0.121000	0.20230	8.927000	0.92846	2.126000	0.65437	0.459000	0.35465	TTT		0.338	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1			4	34	0	0	0	1	0	4	34				
NRN1	51299	broad.mit.edu	37	6	6002646	6002646	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr6:6002646T>C	ENST00000244766.2	-	2	357	c.140A>G	c.(139-141)gAc>gGc	p.D47G	NRN1_ENST00000495850.1_5'UTR	NM_001278710.1|NM_016588.2	NP_001265639.1|NP_057672.1	Q9NPD7	NRN1_HUMAN	neuritin 1	47					nervous system development (GO:0007399)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|anchored component of membrane (GO:0031225)|cell junction (GO:0030054)|synapse (GO:0045202)				endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		GGCCATGCTGTCGCCCAGCTT	0.612																																						ENST00000244766.2																			0				endometrium(2)|large_intestine(2)|lung(4)	8						c.(139-141)gAc>gGc		neuritin 1							156.0	132.0	140.0					6																	6002646		2203	4300	6503	SO:0001583	missense	51299					anchored to membrane|plasma membrane		g.chr6:6002646T>C	AF136631	CCDS4495.1, CCDS75393.1	6p25.1	2008-02-05			ENSG00000124785	ENSG00000124785			17972	protein-coding gene	gene with protein product		607409				9122250	Standard	NM_016588		Approved	NRN	uc003mwu.3	Q9NPD7	OTTHUMG00000014184	ENST00000244766.2:c.140A>G	6.37:g.6002646T>C	ENSP00000244766:p.Asp47Gly					NRN1_ENST00000495850.1_5'UTR	p.D47G	NM_016588.2	NP_057672.1	Q9NPD7	NRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.00415)	2	357	-	Ovarian(93;0.0816)	all_hematologic(90;0.151)	47					B2RA93|Q7Z4Y1	Missense_Mutation	SNP	ENST00000244766.2	37	c.140A>G	CCDS4495.1	.	.	.	.	.	.	.	.	.	.	T	17.19	3.327165	0.60743	.	.	ENSG00000124785	ENST00000244766	.	.	.	4.24	4.24	0.50183	.	0.061505	0.64402	D	0.000005	T	0.45054	0.1323	M	0.61703	1.905	0.47949	D	0.999552	B	0.25609	0.13	B	0.23574	0.047	T	0.56823	-0.7915	9	0.72032	D	0.01	-8.6127	11.209	0.48786	0.0:0.0:0.0:1.0	.	47	Q9NPD7	NRN1_HUMAN	G	47	.	ENSP00000244766:D47G	D	-	2	0	NRN1	5947645	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.904000	0.63279	1.773000	0.52216	0.379000	0.24179	GAC		0.612	NRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039753.1			33	146	0	0	0	1	0	33	146				
CWF19L2	143884	broad.mit.edu	37	11	107205621	107205621	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr11:107205621C>A	ENST00000282251.5	-	16	2452	c.2425G>T	c.(2425-2427)Gat>Tat	p.D809Y		NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	809							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TTTCTGATATCTTTTGAAGAG	0.333																																						ENST00000282251.5																			0				endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40						c.(2425-2427)Gat>Tat		CWF19-like 2, cell cycle control (S. pombe)							100.0	109.0	106.0					11																	107205621		2201	4298	6499	SO:0001583	missense	143884						catalytic activity	g.chr11:107205621C>A	AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.2425G>T	11.37:g.107205621C>A	ENSP00000282251:p.Asp809Tyr						p.D809Y	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)	16	2452	-		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)	809					A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	ENST00000282251.5	37	c.2425G>T	CCDS8336.2	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867543	0.72065	.	.	ENSG00000152404	ENST00000282251;ENST00000409771	T	0.29142	1.58	5.24	5.24	0.73138	Cwf19-like protein, C-terminal domain-2 (1);	0.000000	0.85682	D	0.000000	T	0.60314	0.2259	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.64997	-0.6275	10	0.56958	D	0.05	-22.1509	17.8169	0.88637	0.0:1.0:0.0:0.0	.	809	Q2TBE0	C19L2_HUMAN	Y	809;67	ENSP00000282251:D809Y	ENSP00000282251:D809Y	D	-	1	0	CWF19L2	106710831	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	4.923000	0.63412	2.438000	0.82558	0.655000	0.94253	GAT		0.333	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434		31	43	1	0	8.88839e-20	1	1.01669e-19	31	43				
FARSA	2193	broad.mit.edu	37	19	13039265	13039265	+	Silent	SNP	G	G	T	rs369553087		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr19:13039265G>T	ENST00000314606.4	-	7	750	c.732C>A	c.(730-732)acC>acA	p.T244T	FARSA_ENST00000423140.2_Silent_p.T213T|FARSA_ENST00000588025.1_Silent_p.T284T|CTC-425F1.2_ENST00000592636.1_RNA	NM_004461.2	NP_004452.1	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	244					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	TCGGCATCTCGGTGAACCTGG	0.607																																						ENST00000588025.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20						c.(850-852)acC>acA		phenylalanyl-tRNA synthetase, alpha subunit	L-Phenylalanine(DB00120)						93.0	91.0	92.0					19																	13039265		2203	4300	6503	SO:0001819	synonymous_variant	2193				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding	g.chr19:13039265G>T	U07424	CCDS12287.1	19p13.2	2014-05-06	2007-02-23	2007-02-23	ENSG00000179115	ENSG00000179115	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	3592	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, alpha, cytoplasmic"""	602918	"""phenylalanine-tRNA synthetase-like"", ""phenylalanyl-tRNA synthetase-like, alpha subunit"""	FARSL, FARSLA		9177188	Standard	NM_004461		Approved	CML33	uc002mvs.2	Q9Y285	OTTHUMG00000180569	ENST00000314606.4:c.732C>A	19.37:g.13039265G>T						FARSA_ENST00000314606.4_Silent_p.T244T|FARSA_ENST00000423140.2_Silent_p.T213T	p.T284T			Q9Y285	SYFA_HUMAN			8	992	-			244					B4E363|Q9NSD8|Q9Y4W8	Silent	SNP	ENST00000314606.4	37	c.852C>A	CCDS12287.1																																																																																				0.607	FARSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451935.1	NM_004461		25	62	1	0	1.42536e-11	1	1.56602e-11	25	62				
CCL13	6357	broad.mit.edu	37	17	32685137	32685137	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr17:32685137C>G	ENST00000225844.2	+	3	359	c.284C>G	c.(283-285)aCc>aGc	p.T95S		NM_005408.2	NP_005399.1	Q99616	CCL13_HUMAN	chemokine (C-C motif) ligand 13	95				AHTLKT -> LTP (in Ref. 12; CAB01111). {ECO:0000305}.	cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|immune response (GO:0006955)|inflammatory response (GO:0006954)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			large_intestine(1)|prostate(1)	2		Ovarian(249;0.0443)|Breast(31;0.151)				AAAGCTCACACCCTGAAGACT	0.483																																						ENST00000225844.2																			0				large_intestine(1)|prostate(1)	2						c.(283-285)aCc>aGc		chemokine (C-C motif) ligand 13							65.0	62.0	63.0					17																	32685137		2203	4300	6503	SO:0001583	missense	6357				cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity|signal transducer activity	g.chr17:32685137C>G	AJ001634	CCDS11281.1	17q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000181374	ENSG00000181374		"""Chemokine ligands"", ""Endogenous ligands"""	10611	protein-coding gene	gene with protein product		601391	"""small inducible cytokine subfamily A (Cys-Cys), member 13"""	SCYA13		8661057	Standard	NM_005408		Approved	MCP-4, NCC-1, SCYL1, CKb10, MGC17134	uc002hic.3	Q99616	OTTHUMG00000132890	ENST00000225844.2:c.284C>G	17.37:g.32685137C>G	ENSP00000225844:p.Thr95Ser						p.T95S	NM_005408.2	NP_005399.1	Q99616	CCL13_HUMAN			3	359	+		Ovarian(249;0.0443)|Breast(31;0.151)	95	AHTLKT -> LTP (in Ref. 12; CAB01111).				O95689|Q6ICQ6	Missense_Mutation	SNP	ENST00000225844.2	37	c.284C>G	CCDS11281.1	.	.	.	.	.	.	.	.	.	.	C	7.526	0.657604	0.14645	.	.	ENSG00000181374	ENST00000225844	T	0.03920	3.76	4.37	3.38	0.38709	Chemokine interleukin-8-like domain (1);	.	.	.	.	T	0.04679	0.0127	.	.	.	0.09310	N	1	B	0.26744	0.158	B	0.28553	0.091	T	0.32481	-0.9905	8	0.44086	T	0.13	.	8.7013	0.34327	0.0:0.8876:0.0:0.1124	.	95	Q99616	CCL13_HUMAN	S	95	ENSP00000225844:T95S	ENSP00000225844:T95S	T	+	2	0	CCL13	29709250	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.464000	0.00996	1.972000	0.57404	0.561000	0.74099	ACC		0.483	CCL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256389.1	NM_005408		11	51	0	0	0	1	0	11	51				
TTN	7273	broad.mit.edu	37	2	179615491	179615491	+	Intron	SNP	G	G	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr2:179615491G>T	ENST00000591111.1	-	45	10585				TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.A3879D|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin						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)			AGATTCGCTGGCATGTGGTGT	0.358																																						ENST00000360870.5																			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.(11635-11637)gCc>gAc		titin							81.0	78.0	79.0					2																	179615491		2202	4299	6501	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179615491G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+2359C>A	2.37:g.179615491G>T						TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron	p.A3879D	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	11858	-			9701					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.11636C>A		.	.	.	.	.	.	.	.	.	.	G	11.36	1.616829	0.28801	.	.	ENSG00000155657	ENST00000360870	T	0.57752	0.38	5.55	2.6	0.31112	.	.	.	.	.	T	0.25531	0.0621	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.21827	-1.0234	9	0.11794	T	0.64	.	4.3698	0.11242	0.2128:0.0:0.4963:0.2908	.	3879	Q8WZ42-6	.	D	3879	ENSP00000354117:A3879D	ENSP00000354117:A3879D	A	-	2	0	TTN	179323736	0.000000	0.05858	0.013000	0.15412	0.285000	0.27093	0.262000	0.18460	0.741000	0.32674	0.655000	0.94253	GCC		0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		13	40	1	0	9.31168e-06	1	9.90478e-06	13	40				
DAGLA	747	broad.mit.edu	37	11	61511823	61511823	+	Silent	SNP	G	G	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr11:61511823G>C	ENST00000257215.5	+	20	3107	c.2991G>C	c.(2989-2991)tcG>tcC	p.S997S	RP11-467L20.10_ENST00000536405.1_lincRNA	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	997					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		TCAGCTCCTCGGGTGAGCTCA	0.677																																						ENST00000257215.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43						c.(2989-2991)tcG>tcC		diacylglycerol lipase, alpha							51.0	56.0	54.0					11																	61511823		2202	4299	6501	SO:0001819	synonymous_variant	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61511823G>C	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.2991G>C	11.37:g.61511823G>C							p.S997S	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	20	3107	+			997					A7E233|Q6WQJ0	Silent	SNP	ENST00000257215.5	37	c.2991G>C	CCDS31578.1																																																																																				0.677	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		23	90	0	0	0	1	0	23	90				
NPR1	4881	broad.mit.edu	37	1	153659705	153659705	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:153659705C>G	ENST00000368680.3	+	13	2437	c.1965C>G	c.(1963-1965)atC>atG	p.I655M		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	655	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	ATGGGGCTATCTGTTCCCATG	0.562																																					Pancreas(141;1349 1870 15144 15830 40702)	ENST00000368680.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1963-1965)atC>atG		natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)						138.0	122.0	127.0					1																	153659705		2203	4300	6503	SO:0001583	missense	4881				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	g.chr1:153659705C>G	BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.1965C>G	1.37:g.153659705C>G	ENSP00000357669:p.Ile655Met						p.I655M	NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		13	2437	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		655			Protein kinase.		B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	ENST00000368680.3	37	c.1965C>G	CCDS1051.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.214129	0.39102	.	.	ENSG00000169418	ENST00000368680;ENST00000428723	T	0.61980	0.06	4.43	2.08	0.27032	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.67154	0.2863	M	0.86178	2.8	0.80722	D	1	P;P	0.51351	0.925;0.944	P;D	0.62955	0.803;0.909	T	0.68678	-0.5345	10	0.72032	D	0.01	.	6.36	0.21422	0.0:0.2387:0.0:0.7613	.	134;655	B7Z4Y7;P16066	.;ANPRA_HUMAN	M	655;134	ENSP00000357669:I655M	ENSP00000357669:I655M	I	+	3	3	NPR1	151926329	0.281000	0.24258	1.000000	0.80357	0.710000	0.40934	-0.185000	0.09684	0.329000	0.23460	-0.391000	0.06502	ATC		0.562	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		58	137	0	0	0	1	0	58	137				
SORCS1	114815	broad.mit.edu	37	10	108366950	108366950	+	Nonsense_Mutation	SNP	T	T	A	rs144896133		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr10:108366950T>A	ENST00000263054.6	-	23	3146	c.3139A>T	c.(3139-3141)Aaa>Taa	p.K1047*	SORCS1_ENST00000369698.1_Nonsense_Mutation_p.K582*|SORCS1_ENST00000478809.2_5'UTR|SORCS1_ENST00000344440.6_Nonsense_Mutation_p.K1047*	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1047					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)		GTTGACCTTTTGTTTTCTCCA	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.(3139-3141)Aaa>Taa		sortilin-related VPS10 domain containing receptor 1							100.0	96.0	97.0					10																	108366950		2203	4300	6503	SO:0001587	stop_gained	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108366950T>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.3139A>T	10.37:g.108366950T>A	ENSP00000263054:p.Lys1047*					SORCS1_ENST00000344440.6_Nonsense_Mutation_p.K1047*|SORCS1_ENST00000369698.1_Nonsense_Mutation_p.K582*|SORCS1_ENST00000478809.2_5'UTR	p.K1047*	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)	23	3146	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	1047					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Nonsense_Mutation	SNP	ENST00000263054.6	37	c.3139A>T	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	T	42	9.435519	0.99171	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	.	.	.	5.81	5.81	0.92471	.	0.468602	0.24542	N	0.037638	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.5589	15.8133	0.78581	0.0:0.0:0.0:1.0	.	.	.	.	X	582;1047;1047	.	.	K	-	1	0	SORCS1	108356940	0.977000	0.34250	0.981000	0.43875	0.486000	0.33341	1.367000	0.34204	2.216000	0.71823	0.533000	0.62120	AAA		0.522	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		18	42	0	0	0	1	0	18	42				
CRIPAK	285464	broad.mit.edu	37	4	1389323	1389323	+	Missense_Mutation	SNP	G	G	A	rs1140011	byFrequency	TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr4:1389323G>A	ENST00000324803.4	+	1	3984	c.1024G>A	c.(1024-1026)Gcc>Acc	p.A342T		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	342					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			TGGAGTGCCCGCCTGCTCACA	0.667													-|||	3	0.000599042	0.0	0.0014	5008	,	,		15920	0.002		0.0	False		,,,				2504	0.0					ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(1024-1026)Gcc>Acc		cysteine-rich PAK1 inhibitor		G	THR/ALA	0,4406		0,0,2203	158.0	166.0	163.0		1024	0.7	0.0	4	dbSNP_86	163	3,8597	3.0+/-9.4	0,3,4297	no	missense	CRIPAK	NM_175918.3	58	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging	342/447	1389323	3,13003	2203	4300	6503	SO:0001583	missense	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1389323G>A	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.1024G>A	4.37:g.1389323G>A	ENSP00000323978:p.Ala342Thr						p.A342T	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3984	+			342					Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	c.1024G>A	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.335892	0.41398	0.0	3.49E-4	ENSG00000179979	ENST00000324803;ENST00000382944	T	0.19938	2.11	0.721	0.721	0.18219	.	.	.	.	.	T	0.07234	0.0183	N	0.08118	0	0.18873	N	0.999989	P	0.36065	0.535	B	0.20767	0.031	T	0.30268	-0.9984	9	0.20519	T	0.43	.	7.2686	0.26244	1.0E-4:0.0:0.9999:0.0	rs1140011	342	Q8N1N5	CRPAK_HUMAN	T	342;284	ENSP00000323978:A342T	ENSP00000323978:A342T	A	+	1	0	CRIPAK	1379323	0.000000	0.05858	0.013000	0.15412	0.268000	0.26511	-0.704000	0.05058	0.665000	0.31066	0.196000	0.17591	GCC		0.667	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		6	409	0	0	0	1	0	6	409				
OR9G4	283189	broad.mit.edu	37	11	56510657	56510657	+	Missense_Mutation	SNP	C	C	T	rs147669235		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr11:56510657C>T	ENST00000302957.3	-	1	630	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	211						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E211K(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AGGACTTTTTCGTAGACCCTG	0.438													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22670	0.0		0.0	False		,,,				2504	0.0					ENST00000302957.3																			1	Substitution - Missense(1)	p.E211K(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(631-633)Gaa>Aaa		olfactory receptor, family 9, subfamily G, member 4		C	LYS/GLU	0,4402		0,0,2201	79.0	73.0	75.0		631	4.8	0.4	11	dbSNP_134	75	1,8591	1.2+/-3.3	0,1,4295	no	missense	OR9G4	NM_001005284.1	56	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	211/328	56510657	1,12993	2201	4296	6497	SO:0001583	missense	283189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56510657C>T	BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"""GPCR / Class A : Olfactory receptors"""	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.631G>A	11.37:g.56510657C>T	ENSP00000307515:p.Glu211Lys						p.E211K	NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN			1	630	-			211					Q6IF62|Q96RA9	Missense_Mutation	SNP	ENST00000302957.3	37	c.631G>A	CCDS31537.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	13.11	2.138289	0.37728	0.0	1.16E-4	ENSG00000172457	ENST00000302957	T	0.00207	8.55	4.75	4.75	0.60458	GPCR, rhodopsin-like superfamily (1);	0.186375	0.25717	N	0.028767	T	0.00356	0.0011	M	0.73372	2.23	0.09310	N	0.999998	D	0.61697	0.99	P	0.48952	0.596	T	0.60271	-0.7296	10	0.56958	D	0.05	-12.4199	16.8673	0.86033	0.0:1.0:0.0:0.0	.	211	Q8NGQ1	OR9G4_HUMAN	K	211	ENSP00000307515:E211K	ENSP00000307515:E211K	E	-	1	0	OR9G4	56267233	0.000000	0.05858	0.378000	0.26068	0.062000	0.15995	0.360000	0.20250	2.636000	0.89361	0.643000	0.83706	GAA		0.438	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1	NM_001005284		14	58	0	0	0	1	0	14	58				
RBBP6	5930	broad.mit.edu	37	16	24581363	24581363	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr16:24581363G>A	ENST00000319715.4	+	17	3784	c.3352G>A	c.(3352-3354)Gtc>Atc	p.V1118I	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.V1084I	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1118	Interaction with RB1. {ECO:0000250}.				embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TTCCAAAGATGTCAAATCAGA	0.363																																						ENST00000319715.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(3352-3354)Gtc>Atc		retinoblastoma binding protein 6							37.0	38.0	37.0					16																	24581363		2197	4299	6496	SO:0001583	missense	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24581363G>A		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.3352G>A	16.37:g.24581363G>A	ENSP00000317872:p.Val1118Ile					RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.V1084I	p.V1118I	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	17	3784	+			1118			Interaction with RB1 (By similarity).		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	c.3352G>A	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	G	9.798	1.179805	0.21787	.	.	ENSG00000122257	ENST00000319715;ENST00000348022	T;T	0.15017	2.47;2.46	5.66	-1.29	0.09288	.	0.915776	0.09281	N	0.823695	T	0.07234	0.0183	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.36407	-0.9749	10	0.35671	T	0.21	0.0407	4.3053	0.10944	0.352:0.0:0.4249:0.223	.	1084;1118	Q7Z6E9-2;Q7Z6E9	.;RBBP6_HUMAN	I	1118;1084	ENSP00000317872:V1118I;ENSP00000316291:V1084I	ENSP00000317872:V1118I	V	+	1	0	RBBP6	24488864	0.079000	0.21365	0.783000	0.31826	0.997000	0.91878	-0.184000	0.09698	-0.143000	0.11334	0.655000	0.94253	GTC		0.363	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		5	19	0	0	0	1	0	5	19				
ITGB1	3688	broad.mit.edu	37	10	33200429	33200429	+	Missense_Mutation	SNP	T	T	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr10:33200429T>A	ENST00000396033.2	-	13	2013	c.1878A>T	c.(1876-1878)caA>caT	p.Q626H	ITGB1_ENST00000302278.3_Missense_Mutation_p.Q626H|ITGB1_ENST00000374956.4_Missense_Mutation_p.Q626H|ITGB1_ENST00000423113.1_Missense_Mutation_p.Q626H	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	626	Cysteine-rich tandem repeats.				axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	ACGTTTGCCCTTGAAACTTCG	0.468																																						ENST00000396033.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1876-1878)caA>caT		integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)							116.0	107.0	110.0					10																	33200429		2203	4297	6500	SO:0001583	missense	3688				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	g.chr10:33200429T>A	BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.1878A>T	10.37:g.33200429T>A	ENSP00000379350:p.Gln626His					ITGB1_ENST00000374956.4_Missense_Mutation_p.Q626H|ITGB1_ENST00000423113.1_Missense_Mutation_p.Q626H|ITGB1_ENST00000302278.3_Missense_Mutation_p.Q626H	p.Q626H	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN			13	2013	-		Ovarian(717;1.34e-05)|Breast(68;0.0634)	626			Cysteine-rich tandem repeats.		A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Missense_Mutation	SNP	ENST00000396033.2	37	c.1878A>T	CCDS7174.1	.	.	.	.	.	.	.	.	.	.	T	17.86	3.493091	0.64186	.	.	ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.62	-2.96	0.05547	EGF, extracellular (1);	0.000000	0.85682	D	0.000000	T	0.60932	0.2307	M	0.76433	2.335	0.54753	D	0.999983	D;D;D;D;D	0.69078	0.995;0.993;0.992;0.993;0.997	D;D;D;P;D	0.69307	0.963;0.963;0.953;0.816;0.954	T	0.61362	-0.7078	10	0.17832	T	0.49	.	8.9556	0.35816	0.1018:0.4549:0.0:0.4433	.	626;626;626;626;626	P05556-2;P05556;P05556-5;P05556-3;P05556-4	.;ITB1_HUMAN;.;.;.	H	626	ENSP00000379350:Q626H;ENSP00000388694:Q626H;ENSP00000303351:Q626H;ENSP00000364094:Q626H	ENSP00000303351:Q626H	Q	-	3	2	ITGB1	33240435	0.870000	0.30015	0.802000	0.32245	0.662000	0.39071	-0.031000	0.12287	-0.715000	0.04968	0.533000	0.62120	CAA		0.468	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211		28	144	0	0	0	1	0	28	144				
PPRC1	23082	broad.mit.edu	37	10	103900434	103900434	+	Silent	SNP	C	C	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr10:103900434C>A	ENST00000278070.2	+	5	2208	c.2169C>A	c.(2167-2169)atC>atA	p.I723I	PPRC1_ENST00000370012.1_5'Flank|PPRC1_ENST00000413464.2_Silent_p.I723I	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	723					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AGACCATCATCCCTGAAGTCA	0.537																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(2167-2169)atC>atA		peroxisome proliferator-activated receptor gamma, coactivator-related 1							92.0	91.0	91.0					10																	103900434		2203	4300	6503	SO:0001819	synonymous_variant	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103900434C>A	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.2169C>A	10.37:g.103900434C>A						PPRC1_ENST00000413464.2_Silent_p.I723I	p.I723I	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	5	2208	+		Colorectal(252;0.122)	723					Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Silent	SNP	ENST00000278070.2	37	c.2169C>A	CCDS7529.1																																																																																				0.537	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		22	146	1	0	7.45023e-12	1	8.23965e-12	22	146				
PJA2	9867	broad.mit.edu	37	5	108680479	108680479	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr5:108680479C>G	ENST00000361189.2	-	8	2045	c.1806G>C	c.(1804-1806)gaG>gaC	p.E602D	PJA2_ENST00000361557.3_Missense_Mutation_p.E602D	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	602	Interaction with PRKAR1A, PRKAR2A and PRKAR2B.				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)		GATTGGCCACCTCAACATCCA	0.408																																						ENST00000361189.2																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1804-1806)gaG>gaC		praja ring finger 2, E3 ubiquitin protein ligase							120.0	121.0	121.0					5																	108680479		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.chr5:108680479C>G	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.1806G>C	5.37:g.108680479C>G	ENSP00000354775:p.Glu602Asp					PJA2_ENST00000361557.3_Missense_Mutation_p.E602D	p.E602D	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)	8	2045	-		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)	602			Interaction with PRKAR1A, PRKAR2A and PRKAR2B.		A8K6U4|D3DSZ5|Q68D49|Q8N1G5	Missense_Mutation	SNP	ENST00000361189.2	37	c.1806G>C	CCDS4099.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976287	0.74360	.	.	ENSG00000198961	ENST00000361189;ENST00000361557	T;T	0.11821	2.74;2.74	5.98	1.86	0.25419	.	0.074724	0.53938	D	0.000042	T	0.10465	0.0256	N	0.19112	0.55	0.34743	D	0.730956	P	0.36647	0.563	B	0.43331	0.416	T	0.21930	-1.0231	10	0.56958	D	0.05	-16.4297	6.3813	0.21536	0.1261:0.5197:0.0:0.3542	.	602	O43164	PJA2_HUMAN	D	602	ENSP00000354775:E602D;ENSP00000355284:E602D	ENSP00000354775:E602D	E	-	3	2	PJA2	108708378	0.925000	0.31364	1.000000	0.80357	0.995000	0.86356	0.426000	0.21363	0.442000	0.26555	0.591000	0.81541	GAG		0.408	PJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250663.1	NM_014819		9	87	0	0	0	1	0	9	87				
XXbac-BPG308J9.3	0	broad.mit.edu	37	6	29230602	29230602	+	lincRNA	SNP	T	T	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr6:29230602T>C	ENST00000441381.1	+	0	79																											CCATAGAAGATGGATACCACA	0.423																																						ENST00000441381.1																			0																				107.0	93.0	97.0					6																	29230602		1892	4125	6017			0							g.chr6:29230602T>C																													6.37:g.29230602T>C														0	79	+									RNA	SNP	ENST00000441381.1	37																																																																																						0.423	XXbac-BPG308J9.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000192829.1			13	65	0	0	0	1	0	13	65				
LPHN1	22859	broad.mit.edu	37	19	14261831	14261831	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr19:14261831G>C	ENST00000340736.6	-	24	4576	c.4279C>G	c.(4279-4281)Cgc>Ggc	p.R1427G	LPHN1_ENST00000361434.3_Missense_Mutation_p.R1422G|CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1427					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCTGGCGGGCGCGAGGTGTAG	0.731																																						ENST00000340736.6																			0				central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(4279-4281)Cgc>Ggc		latrophilin 1							4.0	6.0	5.0					19																	14261831		1940	3954	5894	SO:0001583	missense	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14261831G>C	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.4279C>G	19.37:g.14261831G>C	ENSP00000340688:p.Arg1427Gly					LPHN1_ENST00000361434.3_Missense_Mutation_p.R1422G|CTB-55O6.12_ENST00000588658.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA	p.R1427G	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN			24	4576	-			1427					Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	c.4279C>G	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	G	2.012	-0.426865	0.04701	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.69561	-0.41;-0.41	3.94	3.94	0.45596	GPCR, family 2, latrophilin, C-terminal (1);	0.069907	0.56097	D	0.000021	T	0.40909	0.1136	N	0.03115	-0.41	0.40767	D	0.983052	B;B	0.10296	0.003;0.003	B;B	0.14023	0.006;0.01	T	0.33701	-0.9858	10	0.38643	T	0.18	.	9.7104	0.40243	0.0:0.2129:0.7871:0.0	.	1422;1427	O94910-2;O94910	.;LPHN1_HUMAN	G	1427;1422	ENSP00000340688:R1427G;ENSP00000355328:R1422G	ENSP00000340688:R1427G	R	-	1	0	LPHN1	14122831	0.992000	0.36948	0.983000	0.44433	0.572000	0.35998	2.487000	0.45268	1.764000	0.52075	0.205000	0.17691	CGC		0.731	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		3	12	0	0	0	1	0	3	12				
SH3PXD2B	285590	broad.mit.edu	37	5	171849420	171849420	+	Splice_Site	SNP	C	C	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr5:171849420C>T	ENST00000311601.5	-	2	326	c.156G>A	c.(154-156)caG>caA	p.Q52Q	SH3PXD2B_ENST00000519643.1_Splice_Site_p.Q52Q	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	52	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AAATCCTTACCTGGAGGTCAA	0.498																																						ENST00000311601.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.e2+1		SH3 and PX domains 2B							37.0	35.0	36.0					5																	171849420		2203	4299	6502	SO:0001630	splice_region_variant	285590				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding	g.chr5:171849420C>T	AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"""KIAA1295"""	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.156+1G>A	5.37:g.171849420C>T						SH3PXD2B_ENST00000519643.1_Splice_Site_p.Q52_splice	p.Q52_splice	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		2	326	-	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	52			PX.		B6F0V2|Q9P2Q1	Splice_Site	SNP	ENST00000311601.5	37	c.156_splice	CCDS34291.1																																																																																				0.498	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1	NM_017963	Silent	4	15	0	0	0	1	0	4	15				
C1orf87	127795	broad.mit.edu	37	1	60520989	60520989	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:60520989T>C	ENST00000371201.3	-	3	336	c.229A>G	c.(229-231)Act>Gct	p.T77A	C1orf87_ENST00000450089.2_Missense_Mutation_p.T77A	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	77							calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GGATTATCAGTGGTTTGCTGA	0.423																																					NSCLC(75;811 1386 4923 13371 51772)	ENST00000371201.3																			0				breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(229-231)Act>Gct		chromosome 1 open reading frame 87							375.0	333.0	348.0					1																	60520989		2203	4300	6503	SO:0001583	missense	127795						calcium ion binding	g.chr1:60520989T>C	AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"""carcinoma-related EF-hand protein"""					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.229A>G	1.37:g.60520989T>C	ENSP00000360244:p.Thr77Ala					C1orf87_ENST00000450089.2_Missense_Mutation_p.T77A	p.T77A	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN			3	336	-			77					Q6ZU07|Q8IVS0	Missense_Mutation	SNP	ENST00000371201.3	37	c.229A>G	CCDS614.1	.	.	.	.	.	.	.	.	.	.	T	9.734	1.163039	0.21538	.	.	ENSG00000162598	ENST00000371201;ENST00000450089	T	0.17370	2.28	4.92	2.57	0.30868	.	0.710534	0.12831	N	0.435647	T	0.08492	0.0211	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.41502	-0.9505	10	0.15499	T	0.54	-0.0281	6.2079	0.20613	0.0:0.2123:0.0:0.7877	.	77	Q8N0U7	CA087_HUMAN	A	77	ENSP00000360244:T77A	ENSP00000360244:T77A	T	-	1	0	C1orf87	60293577	0.000000	0.05858	0.000000	0.03702	0.218000	0.24690	0.586000	0.23894	0.437000	0.26423	0.482000	0.46254	ACT		0.423	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024943.1	NM_152377		46	136	0	0	0	1	0	46	136				
MT-CYB	4519	broad.mit.edu	37	M	15100	15100	+	Silent	SNP	C	C	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chrM:15100C>T	ENST00000361789.2	+	1	354	c.354C>T	c.(352-354)atC>atT	p.I118I	MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-ND6_ENST00000361681.2_5'Flank|MT-TP_ENST00000387461.2_RNA|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-TH_ENST00000387441.1_RNA			P00156	CYB_HUMAN	mitochondrially encoded cytochrome b	118					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						ATCGGCATTATCCTCCTGCTT	0.453											OREG0007583	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000361789.2																			0				breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						c.(352-354)atC>atT		mitochondrially encoded cytochrome b																																				SO:0001819	synonymous_variant	4519							g.chrM:15100C>T			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198727	ENSG00000198727		"""Cytochrome b genes"", ""Mitochondrial respiratory chain complex / Complex III"""	7427	protein-coding gene	gene with protein product		516020	"""cytochrome b"""	MTCYB			Standard			Approved	COB, CYTB, UQCR3		P00156		ENST00000361789.2:c.354C>T	M.37:g.15100C>T			OREG0007583	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	585		p.118_118insI							1	354	+								Q34786|Q8HBR6|Q8HNQ0|Q8HNQ1|Q8HNQ9|Q8HNR4|Q8HNR7|Q8W7V8|Q8WCV9|Q8WCY2|Q8WCY7|Q8WCY8|Q9B1A6|Q9B1B6|Q9B1B8|Q9B1D4|Q9B1X6|Q9B2V0|Q9B2V8|Q9B2W0|Q9B2W3|Q9B2W8|Q9B2X1|Q9B2X7|Q9B2X9|Q9B2Y3|Q9B2Z0|Q9B2Z4|Q9T6H6|Q9T9Y0|Q9TEH4	Missense_Mutation	SNP	ENST00000361789.2	37	c.354C>T																																																																																					0.453	MT-CYB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024038		10	324	0	0	0	1	0	10	324				
CYTH1	9267	broad.mit.edu	37	17	76694918	76694918	+	Missense_Mutation	SNP	G	G	A	rs375897965		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr17:76694918G>A	ENST00000446868.3	-	8	753	c.683C>T	c.(682-684)cCg>cTg	p.P228L	CYTH1_ENST00000591455.1_Missense_Mutation_p.P228L|CYTH1_ENST00000361101.4_Missense_Mutation_p.P228L|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000589297.1_Missense_Mutation_p.P169L|CYTH1_ENST00000585509.1_Missense_Mutation_p.P169L|RNU6-638P_ENST00000516582.1_RNA			Q15438	CYH1_HUMAN	cytohesin 1	228					establishment of epithelial cell polarity (GO:0090162)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						GAGCTCCTCCGGCAGGTCTCC	0.483																																						ENST00000589297.1																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						c.(505-507)cCg>cTg		cytohesin 1		G	LEU/PRO,LEU/PRO	0,4406		0,0,2203	162.0	165.0	164.0		683,683	5.3	1.0	17		164	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CYTH1	NM_004762.2,NM_017456.2	98,98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	228/399,228/398	76694918	1,13005	2203	4300	6503	SO:0001583	missense	9267				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr17:76694918G>A	M85169	CCDS32754.1, CCDS42392.2	17q25	2014-05-02	2008-08-14	2008-08-14	ENSG00000108669	ENSG00000108669		"""Pleckstrin homology (PH) domain containing"""	9501	protein-coding gene	gene with protein product		182115	"""pleckstrin homology, Sec7 and coiled-coil domains 1"""	PSCD1		1511013, 8449036, 21628335, 20018626	Standard	XM_006722180		Approved	B2-1, D17S811E, cytohesin-1	uc002jvw.3	Q15438	OTTHUMG00000150253	ENST00000446868.3:c.683C>T	17.37:g.76694918G>A	ENSP00000389095:p.Pro228Leu					CYTH1_ENST00000591455.1_Missense_Mutation_p.P228L|CYTH1_ENST00000585509.1_Missense_Mutation_p.P169L|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000446868.3_Missense_Mutation_p.P228L|CYTH1_ENST00000361101.4_Missense_Mutation_p.P228L	p.P169L			Q15438	CYH1_HUMAN			8	1198	-			228			SEC7.		A6NFW7|B7Z1T4|Q9P123|Q9P124	Missense_Mutation	SNP	ENST00000446868.3	37	c.506C>T		.	.	.	.	.	.	.	.	.	.	G	28.2	4.895274	0.91962	0.0	1.16E-4	ENSG00000108669	ENST00000446868;ENST00000361101;ENST00000539525;ENST00000537048;ENST00000262763;ENST00000392453	T;T	0.35973	1.28;1.28	5.33	5.33	0.75918	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.049013	0.85682	D	0.000000	T	0.71151	0.3306	H	0.96518	3.835	0.80722	D	1	D;D	0.69078	0.994;0.997	P;P	0.61592	0.891;0.884	T	0.81949	-0.0699	10	0.72032	D	0.01	.	19.026	0.92932	0.0:0.0:1.0:0.0	.	228;228	Q15438;Q15438-2	CYH1_HUMAN;.	L	228;228;169;169;228;65	ENSP00000389095:P228L;ENSP00000354398:P228L	ENSP00000262763:P228L	P	-	2	0	CYTH1	74206513	1.000000	0.71417	0.999000	0.59377	0.712000	0.41017	9.726000	0.98782	2.465000	0.83290	0.655000	0.94253	CCG		0.483	CYTH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317099.1	NM_004762		75	194	0	0	0	1	0	75	194				
DAB2IP	153090	broad.mit.edu	37	9	124535481	124535481	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr9:124535481C>G	ENST00000408936.3	+	12	2856	c.2674C>G	c.(2674-2676)Cga>Gga	p.R892G	DAB2IP_ENST00000259371.2_Missense_Mutation_p.R864G|DAB2IP_ENST00000309989.1_Missense_Mutation_p.R768G			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	892	Necessary for interaction with AKT1.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GCTGGCACGGCGACAGATGTC	0.677																																						ENST00000408936.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(2674-2676)Cga>Gga		DAB2 interacting protein							11.0	12.0	11.0					9																	124535481		2176	4284	6460	SO:0001583	missense	153090				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	g.chr9:124535481C>G	AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.2674C>G	9.37:g.124535481C>G	ENSP00000386183:p.Arg892Gly					DAB2IP_ENST00000309989.1_Missense_Mutation_p.R768G|DAB2IP_ENST00000259371.2_Missense_Mutation_p.R864G	p.R892G			Q5VWQ8	DAB2P_HUMAN			12	2856	+			892					A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Missense_Mutation	SNP	ENST00000408936.3	37	c.2674C>G		.	.	.	.	.	.	.	.	.	.	C	17.34	3.365809	0.61513	.	.	ENSG00000136848	ENST00000259371;ENST00000408936;ENST00000373782;ENST00000309989	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	4.48	2.47	0.30058	.	0.000000	0.52532	D	0.000074	T	0.36552	0.0971	M	0.80422	2.495	0.47905	D	0.999547	D;B	0.69078	0.997;0.023	D;B	0.81914	0.995;0.066	T	0.14587	-1.0467	10	0.72032	D	0.01	.	11.854	0.52427	0.3292:0.6708:0.0:0.0	.	892;864	Q5VWQ8;G3XA90	DAB2P_HUMAN;.	G	864;892;801;768	ENSP00000259371:R864G;ENSP00000386183:R892G;ENSP00000362887:R801G;ENSP00000310827:R768G	ENSP00000259371:R864G	R	+	1	2	DAB2IP	123575302	0.677000	0.27577	0.998000	0.56505	0.947000	0.59692	0.385000	0.20685	0.353000	0.24079	0.305000	0.20034	CGA		0.677	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552		3	7	0	0	0	1	0	3	7				
CCDC159	126075	broad.mit.edu	37	19	11462749	11462749	+	Silent	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr19:11462749G>A	ENST00000588790.1	+	9	954	c.507G>A	c.(505-507)gaG>gaA	p.E169E	CCDC159_ENST00000458408.1_Silent_p.E169E			P0C7I6	CC159_HUMAN	coiled-coil domain containing 159	284										endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						AGGAGGATGAGATCTCAGAGA	0.582																																						ENST00000588790.1																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						c.(505-507)gaG>gaA		coiled-coil domain containing 159							66.0	69.0	68.0					19																	11462749		1948	4132	6080	SO:0001819	synonymous_variant	126075							g.chr19:11462749G>A	BC038439	CCDS45976.1	19p13.2	2010-02-17			ENSG00000183401	ENSG00000183401			26996	protein-coding gene	gene with protein product							Standard	NM_001080503		Approved		uc010xlt.2	P0C7I6		ENST00000588790.1:c.507G>A	19.37:g.11462749G>A						CCDC159_ENST00000458408.1_Silent_p.E169E	p.E169E			P0C7I6	CC159_HUMAN			9	954	+			284					B4DEG3|B4DWR8|B4E133|B7ZAM4	Silent	SNP	ENST00000588790.1	37	c.507G>A	CCDS45976.1																																																																																				0.582	CCDC159-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458761.1	NM_001080503		11	61	0	0	0	1	0	11	61				
HIVEP3	59269	broad.mit.edu	37	1	42050036	42050036	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:42050036G>A	ENST00000372583.1	-	4	1318	c.433C>T	c.(433-435)Ctt>Ttt	p.L145F	HIVEP3_ENST00000247584.5_Missense_Mutation_p.L145F|HIVEP3_ENST00000429157.2_Missense_Mutation_p.L145F|HIVEP3_ENST00000372584.1_Missense_Mutation_p.L145F	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	145					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)				TGGGAAGGAAGGAGCTGGCTC	0.612																																						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.(433-435)Ctt>Ttt		human immunodeficiency virus type I enhancer binding protein 3							86.0	92.0	90.0					1																	42050036		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42050036G>A	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.433C>T	1.37:g.42050036G>A	ENSP00000361664:p.Leu145Phe					HIVEP3_ENST00000429157.2_Missense_Mutation_p.L145F|HIVEP3_ENST00000372583.1_Missense_Mutation_p.L145F|HIVEP3_ENST00000247584.5_Missense_Mutation_p.L145F	p.L145F	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	1447	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	145					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.433C>T	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.286146	0.40394	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.08282	3.12;3.11;3.11;3.12	4.81	4.81	0.61882	.	0.000000	0.44097	D	0.000486	T	0.13457	0.0326	L	0.27053	0.805	0.31163	N	0.704147	D;D	0.76494	0.998;0.999	D;D	0.75484	0.984;0.986	T	0.04840	-1.0923	10	0.28530	T	0.3	-5.963	7.3906	0.26907	0.1464:0.0:0.8536:0.0	.	145;145	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	F	145	ENSP00000361665:L145F;ENSP00000361664:L145F;ENSP00000247584:L145F;ENSP00000410828:L145F	ENSP00000247584:L145F	L	-	1	0	HIVEP3	41822623	1.000000	0.71417	0.998000	0.56505	0.690000	0.40134	1.198000	0.32223	2.484000	0.83849	0.563000	0.77884	CTT		0.612	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		40	177	0	0	0	1	0	40	177				
NSDHL	50814	broad.mit.edu	37	X	152037350	152037350	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chrX:152037350A>C	ENST00000370274.3	+	8	1006	c.812A>C	c.(811-813)gAg>gCg	p.E271A	NSDHL_ENST00000440023.1_Missense_Mutation_p.E271A	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	271					cholesterol biosynthetic process (GO:0006695)|hair follicle development (GO:0001942)|labyrinthine layer blood vessel development (GO:0060716)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity (GO:0047012)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)					ACCAATGATGAGCCCATCCCT	0.532																																						ENST00000370274.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15						c.(811-813)gAg>gCg		NAD(P) dependent steroid dehydrogenase-like	NADH(DB00157)						213.0	194.0	200.0					X																	152037350		2203	4300	6503	SO:0001583	missense	50814				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity	g.chrX:152037350A>C	X96621	CCDS14717.1	Xq28	2011-09-14			ENSG00000147383	ENSG00000147383	1.1.1.170	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	13398	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 31E, member 1"""	300275				10710235, 12837764, 19027726	Standard	NM_015922		Approved	XAP104, H105e3, SDR31E1	uc004fgs.1	Q15738	OTTHUMG00000024185	ENST00000370274.3:c.812A>C	X.37:g.152037350A>C	ENSP00000359297:p.Glu271Ala					NSDHL_ENST00000440023.1_Missense_Mutation_p.E271A	p.E271A	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN			8	1006	+	Acute lymphoblastic leukemia(192;6.56e-05)		271					D3DWT6|O00344	Missense_Mutation	SNP	ENST00000370274.3	37	c.812A>C	CCDS14717.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.166080	0.78339	.	.	ENSG00000147383	ENST00000370274;ENST00000440023	D;D	0.84516	-1.86;-1.86	4.4	4.4	0.53042	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.051362	0.85682	D	0.000000	D	0.90235	0.6947	M	0.72118	2.19	0.53688	D	0.999978	D	0.89917	1.0	D	0.69479	0.964	D	0.90657	0.4587	10	0.62326	D	0.03	-2.6147	11.1388	0.48390	1.0:0.0:0.0:0.0	.	271	Q15738	NSDHL_HUMAN	A	271	ENSP00000359297:E271A;ENSP00000391854:E271A	ENSP00000359297:E271A	E	+	2	0	NSDHL	151788006	1.000000	0.71417	0.844000	0.33320	0.931000	0.56810	9.216000	0.95154	1.704000	0.51252	0.441000	0.28932	GAG		0.532	NSDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060927.1	NM_015922		22	217	0	0	0	1	0	22	217				
NAPG	8774	broad.mit.edu	37	18	10540013	10540013	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr18:10540013G>A	ENST00000322897.6	+	7	466	c.397G>A	c.(397-399)Gct>Act	p.A133T	NAPG_ENST00000542979.1_Missense_Mutation_p.A51T	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, gamma	133					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)				large_intestine(2)|lung(2)	4						TCCAGAGAAGGCTGTACAGTT	0.289																																						ENST00000322897.6																			0				large_intestine(2)|lung(2)	4						c.(397-399)Gct>Act		N-ethylmaleimide-sensitive factor attachment protein, gamma							38.0	35.0	36.0					18																	10540013		1809	4076	5885	SO:0001583	missense	8774				cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding	g.chr18:10540013G>A	U78107	CCDS45827.1	18p11.21	2013-02-28			ENSG00000134265	ENSG00000134265			7642	protein-coding gene	gene with protein product	"""gamma SNAP"""	603216				9269766	Standard	NM_003826		Approved		uc002kon.3	Q99747	OTTHUMG00000179119	ENST00000322897.6:c.397G>A	18.37:g.10540013G>A	ENSP00000324628:p.Ala133Thr					NAPG_ENST00000542979.1_Missense_Mutation_p.A51T	p.A133T	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN			7	466	+			133					B4DFC9|Q9BUV1	Missense_Mutation	SNP	ENST00000322897.6	37	c.397G>A	CCDS45827.1	.	.	.	.	.	.	.	.	.	.	G	33	5.267972	0.95429	.	.	ENSG00000134265	ENST00000322897;ENST00000542979	D;D	0.93019	-3.15;-3.15	5.82	5.82	0.92795	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.97040	0.9033	M	0.87381	2.88	0.80722	D	1	D	0.76494	0.999	D	0.63793	0.918	D	0.97103	0.9799	10	0.72032	D	0.01	-6.4568	20.1041	0.97884	0.0:0.0:1.0:0.0	.	133	Q99747	SNAG_HUMAN	T	133;51	ENSP00000324628:A133T;ENSP00000442849:A51T	ENSP00000324628:A133T	A	+	1	0	NAPG	10530013	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	8.932000	0.92897	2.755000	0.94549	0.555000	0.69702	GCT		0.289	NAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444873.1	NM_003826		6	11	0	0	0	1	0	6	11				
SERTM1	400120	broad.mit.edu	37	13	37269482	37269482	+	Silent	SNP	T	T	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr13:37269482T>C	ENST00000315190.3	+	2	713	c.267T>C	c.(265-267)aaT>aaC	p.N89N		NM_203451.2	NP_982276.2	A2A2V5	SRTM1_HUMAN	serine-rich and transmembrane domain containing 1	89						integral component of membrane (GO:0016021)											CTTTCACCAATTTGGAAGTCT	0.453																																						ENST00000315190.3																			0											c.(265-267)aaT>aaC		serine-rich and transmembrane domain containing 1							92.0	94.0	93.0					13																	37269482		2203	4300	6503	SO:0001819	synonymous_variant	400120					integral to membrane		g.chr13:37269482T>C		CCDS9358.1	13q13.3	2011-08-10	2011-08-10	2011-08-09	ENSG00000180440	ENSG00000180440			33792	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 36"""	C13orf36			Standard	NM_203451		Approved		uc001uvt.4	A2A2V5	OTTHUMG00000016735	ENST00000315190.3:c.267T>C	13.37:g.37269482T>C							p.N89N	NM_203451.2	NP_982276.2	A2A2V5	CM036_HUMAN			2	713	+			89					Q8N469	Silent	SNP	ENST00000315190.3	37	c.267T>C	CCDS9358.1																																																																																				0.453	SERTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044518.2	NM_203451		23	66	0	0	0	1	0	23	66				
MYF6	4618	broad.mit.edu	37	12	81101831	81101831	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr12:81101831G>C	ENST00000228641.3	+	1	555	c.333G>C	c.(331-333)gaG>gaC	p.E111D		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	111	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						AAATCAACGAGGCCTTCGAGG	0.587																																						ENST00000228641.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						c.(331-333)gaG>gaC		myogenic factor 6 (herculin)							51.0	56.0	54.0					12																	81101831		2203	4300	6503	SO:0001583	missense	4618				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr12:81101831G>C		CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"""Basic helix-loop-helix proteins"""	7566	protein-coding gene	gene with protein product	"""muscle-specific regulatory factor 4"""	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.333G>C	12.37:g.81101831G>C	ENSP00000228641:p.Glu111Asp						p.E111D	NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN			1	555	+			111			Helix-loop-helix motif.		B2R898|Q53X80|Q6FHI9	Missense_Mutation	SNP	ENST00000228641.3	37	c.333G>C	CCDS9019.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.467463	0.63625	.	.	ENSG00000111046	ENST00000228641	D	0.97688	-4.49	5.62	3.75	0.43078	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.96396	0.8824	N	0.16567	0.415	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.95287	0.8391	10	0.48119	T	0.1	-12.0805	8.79	0.34845	0.3109:0.0:0.6891:0.0	.	111	P23409	MYF6_HUMAN	D	111	ENSP00000228641:E111D	ENSP00000228641:E111D	E	+	3	2	MYF6	79625962	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.946000	0.29069	1.360000	0.45960	0.655000	0.94253	GAG		0.587	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407756.1	NM_002469		6	73	0	0	0	1	0	6	73				
C17orf59	54785	broad.mit.edu	37	17	8092945	8092945	+	Silent	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr17:8092945G>A	ENST00000389017.4	-	1	619	c.514C>T	c.(514-516)Ctg>Ttg	p.L172L	MIR3676_ENST00000579470.1_RNA	NM_017622.2	NP_060092.2	Q96GS4	CQ059_HUMAN	chromosome 17 open reading frame 59	172										large_intestine(2)|lung(3)|urinary_tract(1)	6						GCCTCGCTCAGCCCGTCCAGG	0.736																																						ENST00000389017.4																			0				large_intestine(2)|lung(3)|urinary_tract(1)	6						c.(514-516)Ctg>Ttg		chromosome 17 open reading frame 59							10.0	12.0	11.0					17																	8092945		2168	4230	6398	SO:0001819	synonymous_variant	54785							g.chr17:8092945G>A	BC018880	CCDS11133.2	17p13.1	2005-12-16			ENSG00000196544	ENSG00000196544			25939	protein-coding gene	gene with protein product						12477932	Standard	NM_017622		Approved	FLJ20014	uc010vut.2	Q96GS4	OTTHUMG00000153930	ENST00000389017.4:c.514C>T	17.37:g.8092945G>A							p.L172L	NM_017622.2	NP_060092.2	Q96GS4	CQ059_HUMAN			1	619	-			172					Q53HS4|Q9NXW8	Silent	SNP	ENST00000389017.4	37	c.514C>T	CCDS11133.2																																																																																				0.736	C17orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333072.1	NM_017622		12	28	0	0	0	1	0	12	28				
SON	6651	broad.mit.edu	37	21	34926321	34926321	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr21:34926321C>T	ENST00000356577.4	+	3	5259	c.4784C>T	c.(4783-4785)tCt>tTt	p.S1595F	SON_ENST00000381679.4_Missense_Mutation_p.S1595F|SON_ENST00000290239.6_Missense_Mutation_p.S1595F|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.S1595F	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1595					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						ACTCTATCTTCTACTGGTCCT	0.413																																						ENST00000356577.4																			0				breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(4783-4785)tCt>tTt		SON DNA binding protein							72.0	76.0	75.0					21																	34926321		2203	4300	6503	SO:0001583	missense	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34926321C>T	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.4784C>T	21.37:g.34926321C>T	ENSP00000348984:p.Ser1595Phe					SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.S1595F|SON_ENST00000381679.4_Missense_Mutation_p.S1595F|SON_ENST00000300278.4_Missense_Mutation_p.S1595F	p.S1595F	NM_138927.1	NP_620305.1	P18583	SON_HUMAN			3	5259	+			1595					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.4784C>T	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	C	1.909	-0.451098	0.04572	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.15487	2.64;2.62;2.6;2.42	4.87	1.95	0.26073	.	0.708385	0.12886	N	0.430978	T	0.32041	0.0816	L	0.50333	1.59	0.09310	N	1	P;P;P;P;D	0.71674	0.545;0.553;0.545;0.799;0.998	B;B;B;B;D	0.77004	0.206;0.102;0.136;0.206;0.989	T	0.08638	-1.0712	10	0.87932	D	0	.	8.0973	0.30835	0.1711:0.4979:0.331:0.0	.	1595;1595;1276;1595;1595	P18583-10;P18583;P18583-2;P18583-3;P18583-6	.;SON_HUMAN;.;.;.	F	1595	ENSP00000348984:S1595F;ENSP00000290239:S1595F;ENSP00000300278:S1595F;ENSP00000371095:S1595F	ENSP00000290239:S1595F	S	+	2	0	SON	33848191	0.833000	0.29383	0.044000	0.18714	0.180000	0.23129	3.492000	0.53259	0.215000	0.20761	0.491000	0.48974	TCT		0.413	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		26	64	0	0	0	1	0	26	64				
TBCEL	219899	broad.mit.edu	37	11	120925929	120925929	+	Silent	SNP	C	C	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr11:120925929C>A	ENST00000529397.1	+	5	724	c.624C>A	c.(622-624)gcC>gcA	p.A208A	TBCEL_ENST00000422003.2_Silent_p.A208A	NM_001130047.1	NP_001123519.1	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	208						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		TCGTCCTGGCCAACAATCATT	0.438																																						ENST00000422003.2																		TECTA/TBCEL(2)	0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(622-624)gcC>gcA		tubulin folding cofactor E-like							102.0	90.0	94.0					11																	120925929		2203	4299	6502	SO:0001819	synonymous_variant	219899					cytoplasm|cytoskeleton		g.chr11:120925929C>A	BC020501	CCDS31692.1	11q23.3	2008-02-05	2006-11-21	2006-11-21		ENSG00000154114			28115	protein-coding gene	gene with protein product		610451	"""leucine rich repeat containing 35"", ""tubulin-specific chaperone e-like"""	LRRC35		15728251	Standard	NM_152715		Approved	MGC10233	uc001pxo.3	Q5QJ74		ENST00000529397.1:c.624C>A	11.37:g.120925929C>A						TBCEL_ENST00000529397.1_Silent_p.A208A	p.A208A	NM_152715.3	NP_689928.3	Q5QJ74	TBCEL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)	5	812	+		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)	208					Q0VAN6	Silent	SNP	ENST00000529397.1	37	c.624C>A	CCDS31692.1																																																																																				0.438	TBCEL-005	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387688.1	NM_152715		9	43	1	0	0.000274275	1	0.000286275	9	43				
EPS15	2060	broad.mit.edu	37	1	51868137	51868137	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:51868137C>A	ENST00000371733.3	-	18	1948	c.1852G>T	c.(1852-1854)Gat>Tat	p.D618Y	EPS15_ENST00000396122.4_Missense_Mutation_p.D295Y|EPS15_ENST00000493793.1_5'Flank|EPS15_ENST00000371730.2_Missense_Mutation_p.D484Y	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	618	15 X 3 AA repeats of D-P-F.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						TGGAAAAAATCCAAGTTTGTA	0.269			T	MLL	ALL																																	ENST00000371733.3				Dom	yes		1	1p32	2060	T	epidermal growth factor receptor pathway substrate 15 (AF1p)			L	MLL		ALL		2	Whole gene deletion(2)	p.0?(2)	thyroid(1)|central_nervous_system(1)	endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						c.(1852-1854)Gat>Tat		epidermal growth factor receptor pathway substrate 15							62.0	66.0	65.0					1																	51868137		2203	4298	6501	SO:0001583	missense	2060				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	g.chr1:51868137C>A	BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.1852G>T	1.37:g.51868137C>A	ENSP00000360798:p.Asp618Tyr					EPS15_ENST00000371730.2_Missense_Mutation_p.D484Y|EPS15_ENST00000396122.4_Missense_Mutation_p.D295Y	p.D618Y	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN			18	1948	-			618			15 X 3 AA repeats of D-P-F.		B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	ENST00000371733.3	37	c.1852G>T	CCDS557.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212168	0.58452	.	.	ENSG00000085832	ENST00000371730;ENST00000371733;ENST00000396122	T;T;T	0.18502	2.21;2.21;2.21	5.96	5.04	0.67666	.	.	.	.	.	T	0.20251	0.0487	M	0.68952	2.095	0.80722	D	1	P;B;B	0.39480	0.675;0.321;0.057	B;B;B	0.31191	0.111;0.125;0.06	T	0.04140	-1.0974	9	0.72032	D	0.01	.	16.7637	0.85519	0.1298:0.8702:0.0:0.0	.	484;618;304	B1AUU8;P42566;P42566-2	.;EPS15_HUMAN;.	Y	484;618;295	ENSP00000360795:D484Y;ENSP00000360798:D618Y;ENSP00000379428:D295Y	ENSP00000360795:D484Y	D	-	1	0	EPS15	51640725	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.702000	0.61817	1.505000	0.48720	0.585000	0.79938	GAT		0.269	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981		22	88	1	0	7.16444e-05	1	7.52491e-05	22	88				
MT-ND1	4535	broad.mit.edu	37	M	3646	3646	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chrM:3646T>C	ENST00000361390.2	+	1	340	c.340T>C	c.(340-342)Tac>Cac	p.Y114H	MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-CO1_ENST00000361624.2_5'Flank|MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-ND2_ENST00000361453.3_5'Flank			P03886	NU1M_HUMAN	mitochondrially encoded NADH dehydrogenase 1	114					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34					Desflurane(DB01189)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GCCTAGCCGTTTACTCAATCC	0.522																																						ENST00000361390.2																			0				breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34						c.(340-342)Tac>Cac		mitochondrially encoded NADH dehydrogenase 1																																				SO:0001583	missense	4535							g.chrM:3646T>C			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198888	ENSG00000198888	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7455	protein-coding gene	gene with protein product	"""complex I ND1 subunit"", ""NADH-ubiquinone oxidoreductase chain 1"""	516000	"""NADH dehydrogenase 1"""	MTND1			Standard			Approved	ND1, NAD1		P03886		ENST00000361390.2:c.340T>C	M.37:g.3646T>C	ENSP00000354687:p.Tyr114His						p.114_114insH							1	340	+								C0JKH6|Q37523	Missense_Mutation	SNP	ENST00000361390.2	37	c.340T>C																																																																																					0.522	MT-ND1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024026		6	361	0	0	0	1	0	6	361				
KPRP	448834	broad.mit.edu	37	1	152733337	152733337	+	Nonsense_Mutation	SNP	C	C	T	rs375076533		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:152733337C>T	ENST00000606109.1	+	1	1301	c.1273C>T	c.(1273-1275)Cga>Tga	p.R425*	KPRP_ENST00000368773.1_Nonsense_Mutation_p.R425*			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	425	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.R425*(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTCTACCACGACAACTTTC	0.577																																						ENST00000368773.1																			1	Substitution - Nonsense(1)	p.R425*(1)	prostate(1)	NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1273-1275)Cga>Tga		keratinocyte proline-rich protein							185.0	193.0	191.0					1																	152733337		2203	4300	6503	SO:0001587	stop_gained	448834					cytoplasm		g.chr1:152733337C>T	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1273C>T	1.37:g.152733337C>T	ENSP00000475216:p.Arg425*					KPRP_ENST00000606109.1_Nonsense_Mutation_p.R425*	p.R425*	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1331	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		425			Pro-rich.			Nonsense_Mutation	SNP	ENST00000606109.1	37	c.1273C>T	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803517	0.70682	.	.	ENSG00000203786	ENST00000368773	.	.	.	4.88	-0.933	0.10431	.	0.150400	0.30695	N	0.009069	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.1198	10.2759	0.43510	0.634:0.2465:0.1195:0.0	.	.	.	.	X	425	.	ENSP00000357762:R425X	R	+	1	2	KPRP	150999961	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.431000	0.02432	-0.222000	0.09958	-0.704000	0.03662	CGA		0.577	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		121	265	0	0	0	1	0	121	265				
SLC12A3	6559	broad.mit.edu	37	16	56918049	56918049	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr16:56918049G>C	ENST00000563236.1	+	14	1783	c.1758G>C	c.(1756-1758)tgG>tgC	p.W586C	SLC12A3_ENST00000566786.1_Missense_Mutation_p.W585C|SLC12A3_ENST00000438926.2_Missense_Mutation_p.W586C|SLC12A3_ENST00000262502.5_Missense_Mutation_p.W585C			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	586					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TCCTCACCTGGTGGGCGGCCC	0.602																																						ENST00000438926.2																			0				breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(1756-1758)tgG>tgC		solute carrier family 12 (sodium/chloride transporter), member 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						173.0	141.0	152.0					16																	56918049		2198	4300	6498	SO:0001583	missense	0				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56918049G>C		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.1758G>C	16.37:g.56918049G>C	ENSP00000456149:p.Trp586Cys					SLC12A3_ENST00000566786.1_Missense_Mutation_p.W585C|SLC12A3_ENST00000262502.5_Missense_Mutation_p.W585C|SLC12A3_ENST00000563236.1_Missense_Mutation_p.W586C	p.W586C	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN			14	1787	+			586					A8MSJ2|C9JNN9	Missense_Mutation	SNP	ENST00000563236.1	37	c.1758G>C	CCDS58464.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215128	0.79352	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	D	0.98792	-5.14	5.04	5.04	0.67666	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99456	0.9807	H	0.96048	3.76	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.976;0.997;0.994	D	0.98268	1.0502	10	0.87932	D	0	.	18.381	0.90451	0.0:0.0:1.0:0.0	.	585;586;586	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	C	585;586	ENSP00000262502:W586C	ENSP00000262502:W586C	W	+	3	0	SLC12A3	55475550	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.686000	0.98664	2.335000	0.79485	0.462000	0.41574	TGG		0.602	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			10	63	0	0	0	1	0	10	63				
PCDHA9	9752	broad.mit.edu	37	5	140229832	140229832	+	Silent	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr5:140229832G>A	ENST00000532602.1	+	1	2785	c.1752G>A	c.(1750-1752)tcG>tcA	p.S584S	PCDHA9_ENST00000378122.3_Silent_p.S584S|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	584					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGCGGTCGGTGGGCGCCG	0.667																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(1750-1752)tcG>tcA									52.0	59.0	56.0					5																	140229832		2196	4268	6464	SO:0001819	synonymous_variant	0							g.chr5:140229832G>A	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1752G>A	5.37:g.140229832G>A						PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Silent_p.S584S|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.S584S	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2476	+								O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	c.1752G>A	CCDS54920.1																																																																																				0.667	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		58	130	0	0	0	1	0	58	130				
ZNF37A	7587	broad.mit.edu	37	10	38406502	38406502	+	Missense_Mutation	SNP	T	T	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr10:38406502T>G	ENST00000361085.5	+	7	768	c.423T>G	c.(421-423)aaT>aaG	p.N141K	ZNF37A_ENST00000351773.3_Missense_Mutation_p.N141K	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	141					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)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						AAATTAAAAATTGGGAACAAT	0.358																																						ENST00000351773.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						c.(421-423)aaT>aaG		zinc finger protein 37A							54.0	60.0	58.0					10																	38406502		2203	4300	6503	SO:0001583	missense	7587					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38406502T>G	X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"""Zinc fingers, C2H2-type"", ""-"""	13102	protein-coding gene	gene with protein product			"""zinc finger protein 37a (KOX 21)"""			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.423T>G	10.37:g.38406502T>G	ENSP00000354377:p.Asn141Lys					ZNF37A_ENST00000361085.4_Missense_Mutation_p.N141K	p.N141K	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN			8	1253	+			141					B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP	ENST00000361085.5	37	c.423T>G	CCDS31183.1	.	.	.	.	.	.	.	.	.	.	T	3.243	-0.154966	0.06544	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.14893	2.47;2.47	2.57	1.44	0.22558	.	.	.	.	.	T	0.12050	0.0293	L	0.37750	1.13	0.09310	N	1	B	0.15141	0.012	B	0.12156	0.007	T	0.24261	-1.0165	9	0.54805	T	0.06	.	3.7788	0.08671	0.0:0.1857:0.0:0.8143	.	141	P17032	ZN37A_HUMAN	K	141	ENSP00000329141:N141K;ENSP00000354377:N141K	ENSP00000329141:N141K	N	+	3	2	ZNF37A	38446508	0.000000	0.05858	0.007000	0.13788	0.202000	0.24057	-3.093000	0.00608	1.178000	0.42870	0.482000	0.46254	AAT		0.358	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421		23	87	0	0	0	1	0	23	87				
RASA1	5921	broad.mit.edu	37	5	86668014	86668014	+	Splice_Site	SNP	T	T	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr5:86668014T>C	ENST00000274376.6	+	13	2340		c.e13+2		RASA1_ENST00000456692.2_Splice_Site|RASA1_ENST00000512763.1_Splice_Site|RASA1_ENST00000506290.1_Splice_Site	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1						blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		CTTCGTCAGGTGAAGCTTAAT	0.363																																						ENST00000456692.2																			0				NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48						c.e13+2		RAS p21 protein activator (GTPase activating protein) 1							78.0	79.0	79.0					5																	86668014		2203	4300	6503	SO:0001630	splice_region_variant	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86668014T>C		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.1776+2T>C	5.37:g.86668014T>C						RASA1_ENST00000506290.1_Splice_Site|RASA1_ENST00000512763.1_Splice_Site|RASA1_ENST00000274376.6_Splice_Site		NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	13	1360	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)						B2R6W3|Q9UDI1	Splice_Site	SNP	ENST00000274376.6	37		CCDS34200.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.509617	0.85282	.	.	ENSG00000145715	ENST00000274376;ENST00000534133;ENST00000456692;ENST00000512763;ENST00000506290	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2111	0.73225	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RASA1	86703770	1.000000	0.71417	0.999000	0.59377	0.938000	0.57974	7.518000	0.81795	1.993000	0.58246	0.455000	0.32223	.		0.363	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890	Intron	10	17	0	0	0	1	0	10	17				
CCDC6	8030	broad.mit.edu	37	10	61666143	61666143	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr10:61666143C>G	ENST00000263102.6	-	1	271	c.40G>C	c.(40-42)Ggg>Cgg	p.G14R		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	14						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	structural constituent of cytoskeleton (GO:0005200)		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		CTGTTGCCCCCCGCCCCGTCC	0.776			T	RET	NSCLC																																	ENST00000263102.6				Dom	yes		10	10q21	8030	T	coiled-coil domain containing 6			E	RET		NSCLC	CCDC6/RET(4)	0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18						c.(40-42)Ggg>Cgg		coiled-coil domain containing 6							6.0	8.0	7.0					10																	61666143		1638	3484	5122	SO:0001583	missense	8030					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton	g.chr10:61666143C>G	S72869	CCDS7257.1	10q21.2	2006-11-09	2004-01-20		ENSG00000108091	ENSG00000108091			18782	protein-coding gene	gene with protein product	"""DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1"""	601985	"""DNA segment on chromosome 10 (unique) 170"""	TST1, D10S170		8058316, 6745938	Standard	NM_005436		Approved	PTC, TPC, H4	uc001jks.4	Q16204	OTTHUMG00000018284	ENST00000263102.6:c.40G>C	10.37:g.61666143C>G	ENSP00000263102:p.Gly14Arg						p.G14R	NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN		Kidney(211;0.0597)	1	271	-			14					Q15250|Q6GSG7	Missense_Mutation	SNP	ENST00000263102.6	37	c.40G>C	CCDS7257.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.048248	0.93740	.	.	ENSG00000108091	ENST00000263102	D	0.96365	-3.99	4.31	4.31	0.51392	.	0.283001	0.33419	N	0.004926	D	0.96741	0.8936	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97210	0.9870	10	0.87932	D	0	-17.2075	14.6998	0.69147	0.0:1.0:0.0:0.0	.	14	Q16204	CCDC6_HUMAN	R	14	ENSP00000263102:G14R	ENSP00000263102:G14R	G	-	1	0	CCDC6	61336149	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.656000	0.61483	2.397000	0.81536	0.655000	0.94253	GGG		0.776	CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048176.2	NM_005436		7	27	0	0	0	1	0	7	27				
MUC16	94025	broad.mit.edu	37	19	9064668	9064668	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr19:9064668G>C	ENST00000397910.4	-	3	22981	c.22778C>G	c.(22777-22779)tCc>tGc	p.S7593C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7595	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGACATTGTGGACTGCTCAGG	0.483																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(22777-22779)tCc>tGc		mucin 16, cell surface associated							110.0	106.0	107.0					19																	9064668		2017	4182	6199	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9064668G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.22778C>G	19.37:g.9064668G>C	ENSP00000381008:p.Ser7593Cys						p.S7593C	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	22981	-			7595			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.22778C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	N	3.659	-0.069942	0.07228	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	2.81	-5.62	0.02481	.	.	.	.	.	T	0.02571	0.0078	L	0.29908	0.895	.	.	.	P	0.50156	0.932	P	0.47162	0.54	T	0.08638	-1.0712	8	0.87932	D	0	.	1.9771	0.03418	0.4608:0.1306:0.2769:0.1317	.	7593	B5ME49	.	C	7593	ENSP00000381008:S7593C	ENSP00000381008:S7593C	S	-	2	0	MUC16	8925668	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.386000	0.07370	-2.004000	0.00961	-1.243000	0.01532	TCC		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		14	88	0	0	0	1	0	14	88				
KRT18	3875	broad.mit.edu	37	12	53343316	53343316	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr12:53343316G>A	ENST00000388835.3	+	1	569	c.359G>A	c.(358-360)gGa>gAa	p.G120E	KRT18_ENST00000550600.1_Missense_Mutation_p.G120E|KRT18_ENST00000388837.2_Missense_Mutation_p.G120E|KRT8_ENST00000552551.1_5'UTR|AC107016.2_ENST00000581256.1_RNA|KRT8_ENST00000546897.1_Intron|KRT8_ENST00000549198.1_5'UTR	NM_000224.2	NP_000215.1	P05783	K1C18_HUMAN	keratin 18	120	Interaction with TRADD.|Linker 1.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis (GO:0009653)|cell cycle (GO:0007049)|extrinsic apoptotic signaling pathway (GO:0097191)|Golgi to plasma membrane CFTR protein transport (GO:0043000)|hepatocyte apoptotic process (GO:0097284)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of apoptotic process (GO:0043066)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell periphery (GO:0071944)|centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						GAGAAGAAGGGACCCCAGGTC	0.587																																						ENST00000550600.1																			0				central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						c.(358-360)gGa>gAa		keratin 18							31.0	37.0	35.0					12																	53343316		2185	4290	6475	SO:0001583	missense	3875				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity	g.chr12:53343316G>A		CCDS31809.1	12q13	2013-01-16			ENSG00000111057	ENSG00000111057		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6430	protein-coding gene	gene with protein product		148070				1705144, 16831889	Standard	NM_000224		Approved		uc001sbg.3	P05783	OTTHUMG00000169882	ENST00000388835.3:c.359G>A	12.37:g.53343316G>A	ENSP00000373487:p.Gly120Glu					KRT8_ENST00000546897.1_Intron|KRT18_ENST00000388835.3_Missense_Mutation_p.G120E|KRT8_ENST00000552551.1_5'UTR|KRT8_ENST00000549198.1_5'UTR|KRT18_ENST00000388837.2_Missense_Mutation_p.G120E	p.G120E			P05783	K1C18_HUMAN			2	413	+			120			Interaction with TRADD.|Linker 1.|Necessary for interaction with PNN.|Rod.		Q53G38|Q5U0N8|Q9BW26	Missense_Mutation	SNP	ENST00000388835.3	37	c.359G>A	CCDS31809.1	.	.	.	.	.	.	.	.	.	.	g	25.3	4.621968	0.87460	.	.	ENSG00000111057	ENST00000388837;ENST00000550600;ENST00000388835	D;D;D	0.88201	-2.35;-2.35;-2.35	3.63	3.63	0.41609	Filament (1);	0.000000	0.52532	D	0.000076	D	0.90103	0.6908	M	0.66378	2.025	0.80722	D	1	P;P	0.45212	0.853;0.595	P;P	0.53549	0.527;0.729	D	0.86737	0.1952	10	0.11182	T	0.66	.	13.5664	0.61822	0.0:0.0:1.0:0.0	.	120;120	F8VZY9;P05783	.;K1C18_HUMAN	E	120	ENSP00000373489:G120E;ENSP00000447278:G120E;ENSP00000373487:G120E	ENSP00000373487:G120E	G	+	2	0	KRT18	51629583	1.000000	0.71417	0.971000	0.41717	0.992000	0.81027	3.953000	0.56699	2.329000	0.79093	0.561000	0.74099	GGA		0.587	KRT18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406405.1	NM_199187		21	84	0	0	0	1	0	21	84				
PLAG1	5324	broad.mit.edu	37	8	57079313	57079313	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr8:57079313G>T	ENST00000316981.3	-	5	1471	c.992C>A	c.(991-993)tCt>tAt	p.S331Y	PLAG1_ENST00000423799.2_Missense_Mutation_p.S249Y|PLAG1_ENST00000429357.2_Missense_Mutation_p.S331Y	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	331	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.				gland morphogenesis (GO:0022612)|multicellular organism growth (GO:0035264)|negative regulation of gene expression (GO:0010629)|organ growth (GO:0035265)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			ATATTTGAAAGAAAGGTGGTG	0.418			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma																																	ENST00000316981.3				Dom	yes		8	8q12	5324	T	pleiomorphic adenoma gene 1			E	"""TCEA1, LIFR, CTNNB1, CHCHD7"""		salivary adenoma	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(991-993)tCt>tAt		pleiomorphic adenoma gene 1							140.0	143.0	142.0					8																	57079313		2203	4300	6503	SO:0001583	missense	5324					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:57079313G>T	U65002	CCDS6165.1, CCDS47860.1	8q12	2010-07-30				ENSG00000181690		"""Zinc fingers, C2H2-type"""	9045	protein-coding gene	gene with protein product		603026				9268638	Standard	NM_002655		Approved	ZNF912	uc010lyi.3	Q6DJT9		ENST00000316981.3:c.992C>A	8.37:g.57079313G>T	ENSP00000325546:p.Ser331Tyr					PLAG1_ENST00000429357.2_Missense_Mutation_p.S331Y|PLAG1_ENST00000423799.2_Missense_Mutation_p.S249Y	p.S331Y	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	Epithelial(17;0.00179)|all cancers(17;0.0125)		5	1471	-		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	331			Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.		B4DLC2|Q59GH8|Q9Y4L2	Missense_Mutation	SNP	ENST00000316981.3	37	c.992C>A	CCDS6165.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.742663	0.49151	.	.	ENSG00000181690	ENST00000316981;ENST00000423799;ENST00000429357	T;T;T	0.12672	2.66;3.33;2.66	5.77	5.77	0.91146	.	0.158909	0.56097	D	0.000021	T	0.19167	0.0460	L	0.40543	1.245	0.58432	D	0.999998	D	0.56968	0.978	P	0.45881	0.496	T	0.00241	-1.1886	10	0.62326	D	0.03	-8.3133	19.9828	0.97334	0.0:0.0:1.0:0.0	.	331	Q6DJT9	PLAG1_HUMAN	Y	331;249;331	ENSP00000325546:S331Y;ENSP00000404067:S249Y;ENSP00000416537:S331Y	ENSP00000325546:S331Y	S	-	2	0	PLAG1	57241867	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	9.476000	0.97823	2.718000	0.92993	0.460000	0.39030	TCT		0.418	PLAG1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378212.1	NM_002655		33	262	1	0	9.78485e-24	1	1.13477e-23	33	262				
ACTL9	284382	broad.mit.edu	37	19	8807988	8807988	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr19:8807988C>T	ENST00000324436.3	-	1	1184	c.1064G>A	c.(1063-1065)cGg>cAg	p.R355Q		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	355						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CAGCTCTGCCCGGAAGCGACC	0.652																																						ENST00000324436.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						c.(1063-1065)cGg>cAg		actin-like 9							21.0	24.0	23.0					19																	8807988		2197	4293	6490	SO:0001583	missense	284382					cytoplasm|cytoskeleton		g.chr19:8807988C>T		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.1064G>A	19.37:g.8807988C>T	ENSP00000316674:p.Arg355Gln						p.R355Q	NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN			1	1184	-			355					A8K893|Q6X960	Missense_Mutation	SNP	ENST00000324436.3	37	c.1064G>A	CCDS12207.1	.	.	.	.	.	.	.	.	.	.	c	0.007	-1.985040	0.00443	.	.	ENSG00000181786	ENST00000324436	D	0.93859	-3.3	4.58	-1.68	0.08212	.	1.841930	0.03779	N	0.260963	T	0.79405	0.4440	N	0.02334	-0.595	0.09310	N	1	B	0.15141	0.012	B	0.08055	0.003	T	0.75317	-0.3360	10	0.02654	T	1	.	7.4842	0.27423	0.0:0.5162:0.1114:0.3724	.	355	Q8TC94	ACTL9_HUMAN	Q	355	ENSP00000316674:R355Q	ENSP00000316674:R355Q	R	-	2	0	ACTL9	8668988	0.000000	0.05858	0.003000	0.11579	0.020000	0.10135	-0.042000	0.12063	-0.180000	0.10637	-1.634000	0.00779	CGG		0.652	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	NM_178525		26	72	0	0	0	1	0	26	72				
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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"""		617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(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	CM010465|CM900211	TP53	M	rs121912651	c.(742-744)Cgg>Tgg	Other conserved DNA damage response genes	tumor protein p53							151.0	112.0	125.0					17																	7577539		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.chr17:7577539G>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.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp	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_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W	p.R248W	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)	7	874	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		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.742C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	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	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	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	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		35	33	0	0	0	1	0	35	33				
HNRNPD	3184	broad.mit.edu	37	4	83279884	83279884	+	Missense_Mutation	SNP	T	T	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr4:83279884T>A	ENST00000313899.7	-	4	826	c.549A>T	c.(547-549)aaA>aaT	p.K183N	HNRNPD_ENST00000541060.1_Missense_Mutation_p.K29N|HNRNPD_ENST00000508119.1_5'Flank|HNRNPD_ENST00000353341.4_Missense_Mutation_p.K183N|HNRNPD_ENST00000352301.4_Missense_Mutation_p.K164N|HNRNPD_ENST00000543098.1_Missense_Mutation_p.K131N	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	183	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian regulation of translation (GO:0097167)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|regulation of circadian rhythm (GO:0042752)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						CAACAAAAATTTTTTTAACCG	0.368																																						ENST00000313899.7																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						c.(547-549)aaA>aaT		heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)							68.0	73.0	71.0					4																	83279884		2203	4300	6503	SO:0001583	missense	3184				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding	g.chr4:83279884T>A	AF026126	CCDS3590.1, CCDS3591.1, CCDS3592.1	4q21	2013-02-12	2002-08-29	2008-04-18	ENSG00000138668	ENSG00000138668		"""RNA binding motif (RRM) containing"""	5036	protein-coding gene	gene with protein product		601324	"""heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA-binding protein 1, 37kD)"""	AUF1, HNRPD		9615222	Standard	NM_001003810		Approved		uc003hmm.1	Q14103	OTTHUMG00000130290	ENST00000313899.7:c.549A>T	4.37:g.83279884T>A	ENSP00000313199:p.Lys183Asn					HNRNPD_ENST00000353341.4_Missense_Mutation_p.K183N|HNRNPD_ENST00000541060.1_Missense_Mutation_p.K29N|HNRNPD_ENST00000543098.1_Missense_Mutation_p.K131N|HNRNPD_ENST00000352301.4_Missense_Mutation_p.K164N	p.K183N	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN			4	826	-			183			RRM 2.		A8K9J2|P07029|Q01858|Q14100|Q14101|Q14102|Q4W5A1|Q9UCE8|Q9UCE9	Missense_Mutation	SNP	ENST00000313899.7	37	c.549A>T	CCDS3592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.89|18.89	3.720539|3.720539	0.68959|0.68959	.|.	.|.	ENSG00000138668|ENSG00000138668	ENST00000313899;ENST00000353341;ENST00000352301;ENST00000543098;ENST00000307213;ENST00000541060;ENST00000509263;ENST00000507010;ENST00000515432|ENST00000514671	D;D;D;D;D;D;D;D|.	0.92965|.	-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14|.	5.76|5.76	4.58|4.58	0.56647|0.56647	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);|.	0.042034|.	0.85682|.	D|.	0.000000|.	T|T	0.64394|0.64394	0.2594|0.2594	M|M	0.74881|0.74881	2.28|2.28	0.58432|0.58432	D|D	0.999995|0.999995	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;1.0;0.999|.	T|T	0.63686|0.63686	-0.6581|-0.6581	10|5	0.87932|.	D|.	0|.	.|.	6.561|6.561	0.22485|0.22485	0.0:0.2801:0.0:0.7199|0.0:0.2801:0.0:0.7199	.|.	164;183;164;183|.	Q14103-4;Q14103-3;Q14103-2;Q14103|.	.;.;.;HNRPD_HUMAN|.	N|Y	183;183;164;131;158;29;116;183;85|87	ENSP00000313199:K183N;ENSP00000313327:K183N;ENSP00000305860:K164N;ENSP00000439380:K131N;ENSP00000437416:K29N;ENSP00000420926:K116N;ENSP00000421952:K183N;ENSP00000426666:K85N|.	ENSP00000307544:K158N|.	K|N	-|-	3|1	2|0	HNRNPD|HNRNPD	83498908|83498908	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.798000|0.798000	0.45092|0.45092	2.993000|2.993000	0.49425|0.49425	1.116000|1.116000	0.41820|0.41820	-0.263000|-0.263000	0.10527|0.10527	AAA|AAT		0.368	HNRNPD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252630.2	NM_031370		19	70	0	0	0	1	0	19	70				
AMPH	273	broad.mit.edu	37	7	38431442	38431442	+	Silent	SNP	C	C	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr7:38431442C>T	ENST00000356264.2	-	19	2000	c.1785G>A	c.(1783-1785)caG>caA	p.Q595Q	AMPH_ENST00000471913.1_5'Flank|AMPH_ENST00000428293.2_Silent_p.Q553Q|AMPH_ENST00000325590.5_Silent_p.Q553Q	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	595					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						AAGGCGTGGGCTGAGGGTCCT	0.632																																						ENST00000356264.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						c.(1783-1785)caG>caA		amphiphysin							54.0	50.0	51.0					7																	38431442		2203	4300	6503	SO:0001819	synonymous_variant	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38431442C>T		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1785G>A	7.37:g.38431442C>T						AMPH_ENST00000428293.2_Silent_p.Q553Q|AMPH_ENST00000325590.5_Silent_p.Q553Q	p.Q595Q	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN			19	2000	-			595					A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Silent	SNP	ENST00000356264.2	37	c.1785G>A	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	C	6.045	0.376576	0.11466	.	.	ENSG00000078053	ENST00000441628	.	.	.	5.32	3.33	0.38152	.	.	.	.	.	T	0.61375	0.2342	.	.	.	0.44570	D	0.997536	.	.	.	.	.	.	T	0.56159	-0.8025	4	.	.	.	-3.1787	10.6677	0.45741	0.0:0.7719:0.0:0.2281	.	.	.	.	T	478	.	.	A	-	1	0	AMPH	38397967	0.213000	0.23551	0.055000	0.19348	0.064000	0.16182	0.519000	0.22862	0.512000	0.28257	0.591000	0.81541	GCC		0.632	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		20	74	0	0	0	1	0	20	74				
PAMR1	25891	broad.mit.edu	37	11	35454241	35454241	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr11:35454241C>T	ENST00000378880.2	-	11	2271	c.1826G>A	c.(1825-1827)aGc>aAc	p.S609N	PAMR1_ENST00000278360.3_Missense_Mutation_p.S626N|PAMR1_ENST00000378878.3_Missense_Mutation_p.S498N|PAMR1_ENST00000532848.1_Missense_Mutation_p.S569N	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	609	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GAAGCCAGGGCTCCTCACGTC	0.607																																						ENST00000378880.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						c.(1825-1827)aGc>aAc		peptidase domain containing associated with muscle regeneration 1							83.0	67.0	73.0					11																	35454241		2202	4298	6500	SO:0001583	missense	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35454241C>T		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.1826G>A	11.37:g.35454241C>T	ENSP00000368158:p.Ser609Asn					PAMR1_ENST00000532848.1_Missense_Mutation_p.S569N|PAMR1_ENST00000278360.3_Missense_Mutation_p.S626N|PAMR1_ENST00000378878.3_Missense_Mutation_p.S498N	p.S609N	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN			11	2271	-			609			Peptidase S1.		A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	ENST00000378880.2	37	c.1826G>A	CCDS31460.1	.	.	.	.	.	.	.	.	.	.	C	9.915	1.210590	0.22289	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605	D;D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11;-3.11	5.47	1.23	0.21249	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.428825	0.27223	N	0.020350	T	0.81498	0.4835	N	0.25031	0.7	0.33677	D	0.611638	P;B;B	0.34462	0.454;0.042;0.0	B;B;B	0.24974	0.057;0.037;0.002	T	0.81245	-0.1020	10	0.87932	D	0	.	6.098	0.20031	0.0:0.24:0.5158:0.2442	.	498;609;626	A8MQ58;Q6UXH9;Q6UXH9-2	.;PAMR1_HUMAN;.	N	626;609;498;569;586	ENSP00000278360:S626N;ENSP00000368158:S609N;ENSP00000368156:S498N;ENSP00000433868:S569N;ENSP00000432591:S586N	ENSP00000278360:S626N	S	-	2	0	PAMR1	35410817	1.000000	0.71417	0.997000	0.53966	0.800000	0.45204	1.000000	0.29770	0.681000	0.31386	0.561000	0.74099	AGC		0.607	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		11	43	0	0	0	1	0	11	43				
OR8D1	283159	broad.mit.edu	37	11	124180410	124180410	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr11:124180410A>C	ENST00000357821.2	-	1	323	c.253T>G	c.(253-255)Ttc>Gtc	p.F85V		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		TTTCCTAGGAAGTTCACCAGC	0.468																																						ENST00000357821.2																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(253-255)Ttc>Gtc		olfactory receptor, family 8, subfamily D, member 1							68.0	65.0	66.0					11																	124180410		2201	4299	6500	SO:0001583	missense	283159				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124180410A>C	AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"""GPCR / Class A : Olfactory receptors"""	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.253T>G	11.37:g.124180410A>C	ENSP00000350474:p.Phe85Val						p.F85V	NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	1	323	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	85					B2RNL4|Q6IEW1|Q8NGH0	Missense_Mutation	SNP	ENST00000357821.2	37	c.253T>G	CCDS31706.1	.	.	.	.	.	.	.	.	.	.	a	11.96	1.795604	0.31777	.	.	ENSG00000196341	ENST00000357821	T	0.00940	5.52	4.29	3.12	0.35913	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38837	U	0.001551	T	0.04634	0.0126	M	0.89030	3	0.09310	N	1	D	0.69078	0.997	D	0.63488	0.915	T	0.07328	-1.0778	10	0.87932	D	0	.	6.7823	0.23652	0.7623:0.1514:0.0863:0.0	.	85	Q8WZ84	OR8D1_HUMAN	V	85	ENSP00000350474:F85V	ENSP00000350474:F85V	F	-	1	0	OR8D1	123685620	0.042000	0.20092	0.967000	0.41034	0.630000	0.37929	0.975000	0.29449	1.813000	0.52934	0.416000	0.27883	TTC		0.468	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387285.1	NM_001002917		16	44	0	0	0	1	0	16	44				
PPIC	5480	broad.mit.edu	37	5	122365082	122365082	+	Missense_Mutation	SNP	T	T	C	rs45449493	byFrequency	TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr5:122365082T>C	ENST00000306442.4	-	2	264	c.149A>G	c.(148-150)gAt>gGt	p.D50G		NM_000943.4	NP_000934.1	P45877	PPIC_HUMAN	peptidylprolyl isomerase C (cyclophilin C)	50	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	TCTGCCAACATCTTTGTCTCC	0.398																																					Ovarian(99;690 1502 20765 45543 49568)	ENST00000306442.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6						c.(148-150)gAt>gGt		peptidylprolyl isomerase C (cyclophilin C)	L-Proline(DB00172)						121.0	121.0	121.0					5																	122365082		2203	4300	6503	SO:0001583	missense	5480				protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding	g.chr5:122365082T>C	S71018	CCDS4133.1	5q23.2	2008-02-05			ENSG00000168938	ENSG00000168938	5.2.1.8		9256	protein-coding gene	gene with protein product		123842				1383094, 8031755	Standard	NM_000943		Approved	CYPC	uc003kth.3	P45877	OTTHUMG00000128921	ENST00000306442.4:c.149A>G	5.37:g.122365082T>C	ENSP00000303057:p.Asp50Gly						p.D50G	NM_000943.4	NP_000934.1	P45877	PPIC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	2	264	-		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	50			PPIase cyclophilin-type.		A4LBB5	Missense_Mutation	SNP	ENST00000306442.4	37	c.149A>G	CCDS4133.1	.	.	.	.	.	.	.	.	.	.	T	19.74	3.883824	0.72410	.	.	ENSG00000168938	ENST00000306442	T	0.35973	1.28	5.9	5.9	0.94986	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.199169	0.51477	D	0.000084	T	0.48696	0.1514	L	0.37507	1.11	0.80722	D	1	D;B	0.71674	0.998;0.072	P;B	0.61477	0.889;0.152	T	0.48969	-0.8987	10	0.72032	D	0.01	.	16.3318	0.83023	0.0:0.0:0.0:1.0	.	50;50	B4E200;P45877	.;PPIC_HUMAN	G	50	ENSP00000303057:D50G	ENSP00000303057:D50G	D	-	2	0	PPIC	122392981	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.698000	0.84413	2.248000	0.74166	0.460000	0.39030	GAT		0.398	PPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250898.2	NM_000943		10	69	0	0	0	1	0	10	69				
BRPF1	7862	broad.mit.edu	37	3	9786709	9786709	+	Missense_Mutation	SNP	T	T	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr3:9786709T>G	ENST00000457855.1	+	9	2931	c.2920T>G	c.(2920-2922)Ttc>Gtc	p.F974V	BRPF1_ENST00000424362.1_Missense_Mutation_p.F973V|BRPF1_ENST00000302054.3_Missense_Mutation_p.F974V|BRPF1_ENST00000383829.2_Missense_Mutation_p.F980V|BRPF1_ENST00000433861.2_Missense_Mutation_p.F879V			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	974	Required for RUNX1 and RUNX2 transcriptional activation.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					AGCCAATGGCTTCAGCGGTGG	0.527																																						ENST00000383829.2																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(2938-2940)Ttc>Gtc		bromodomain and PHD finger containing, 1							99.0	86.0	90.0					3																	9786709		2203	4300	6503	SO:0001583	missense	7862				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	g.chr3:9786709T>G	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.2920T>G	3.37:g.9786709T>G	ENSP00000410210:p.Phe974Val					BRPF1_ENST00000457855.1_Missense_Mutation_p.F974V|BRPF1_ENST00000433861.2_Missense_Mutation_p.F879V|BRPF1_ENST00000302054.3_Missense_Mutation_p.F974V|BRPF1_ENST00000424362.1_Missense_Mutation_p.F973V	p.F980V	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN			10	3342	+	Medulloblastoma(99;0.227)		974			Required for RUNX1 and RUNX2 transcriptional activation.		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	c.2938T>G	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	T	15.30	2.791691	0.50102	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.17370	2.34;2.28;3.67;2.28;2.28	5.62	5.62	0.85841	.	0.119478	0.64402	D	0.000010	T	0.37972	0.1023	M	0.68593	2.085	0.80722	D	1	D;B;B;B	0.57899	0.981;0.034;0.034;0.02	D;B;B;B	0.66351	0.943;0.017;0.027;0.011	T	0.06215	-1.0839	10	0.25106	T	0.35	.	15.827	0.78718	0.0:0.0:0.0:1.0	.	879;973;980;974	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	V	879;973;980;974;974	ENSP00000402485:F879V;ENSP00000398863:F973V;ENSP00000373340:F980V;ENSP00000306297:F974V;ENSP00000410210:F974V	ENSP00000306297:F974V	F	+	1	0	BRPF1	9761709	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.662000	0.83803	2.129000	0.65627	0.533000	0.62120	TTC		0.527	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		24	76	0	0	0	1	0	24	76				
MT-CO1	4512	broad.mit.edu	37	M	6412	6412	+	Missense_Mutation	SNP	A	A	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chrM:6412A>G	ENST00000361624.2	+	1	509	c.509A>G	c.(508-510)aAt>aGt	p.N170S	MT-ATP8_ENST00000361851.1_5'Flank|MT-ATP6_ENST00000361899.2_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-TM_ENST00000387377.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-CO2_ENST00000361739.1_5'Flank|MT-TI_ENST00000387365.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	170					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						AACAATTATCAATATAAAACC	0.493																																						ENST00000361624.2																			0				breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						c.(508-510)aAt>aGt		mitochondrially encoded cytochrome c oxidase I																																				SO:0001583	missense	4512							g.chrM:6412A>G			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.509A>G	M.37:g.6412A>G	ENSP00000354499:p.Asn170Ser						p.170_170insS							1	509	+								Q34770	Missense_Mutation	SNP	ENST00000361624.2	37	c.509A>G																																																																																					0.493	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024028		291	18	0	0	0	1	0	291	18				
HOXD10	3236	broad.mit.edu	37	2	176982219	176982219	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr2:176982219G>A	ENST00000249501.4	+	1	913	c.658G>A	c.(658-660)Gag>Aag	p.E220K	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	220					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|neuromuscular process (GO:0050905)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GGAGAGCCCCGAGGCCAAAGG	0.622																																						ENST00000249501.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17						c.(658-660)Gag>Aag		homeobox D10							22.0	27.0	25.0					2																	176982219		2195	4284	6479	SO:0001583	missense	3236					nucleus	sequence-specific DNA binding	g.chr2:176982219G>A		CCDS2266.1	2q31.1	2014-09-17	2005-12-22		ENSG00000128710	ENSG00000128710		"""Homeoboxes / ANTP class : HOXL subclass"""	5133	protein-coding gene	gene with protein product		142984	"""homeo box D10"""	HOX4, HOX4D		1973146, 1358459	Standard	NM_002148		Approved		uc002ukj.3	P28358	OTTHUMG00000132511	ENST00000249501.4:c.658G>A	2.37:g.176982219G>A	ENSP00000249501:p.Glu220Lys					HOXD10_ENST00000490088.2_Intron	p.E220K	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)	1	913	+			220					Q6NT10	Missense_Mutation	SNP	ENST00000249501.4	37	c.658G>A	CCDS2266.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.648129	0.47258	.	.	ENSG00000128710	ENST00000249501	D	0.93307	-3.2	5.9	5.9	0.94986	.	0.231325	0.48767	D	0.000161	D	0.93051	0.7788	M	0.73962	2.25	0.58432	D	0.999996	B	0.22080	0.064	B	0.16722	0.016	D	0.89074	0.3471	10	0.26408	T	0.33	.	20.4349	0.99088	0.0:0.0:1.0:0.0	.	220	P28358	HXD10_HUMAN	K	220	ENSP00000249501:E220K	ENSP00000249501:E220K	E	+	1	0	HOXD10	176690465	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.092000	0.94157	2.839000	0.97877	0.644000	0.83932	GAG		0.622	HOXD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255692.2			13	67	0	0	0	1	0	13	67				
LCE1A	353131	broad.mit.edu	37	1	152799971	152799971	+	Missense_Mutation	SNP	A	A	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:152799971A>G	ENST00000335123.2	+	1	23	c.23A>G	c.(22-24)cAg>cGg	p.Q8R		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	8	Cys-rich.				keratinization (GO:0031424)					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGAGCCAGCAGCAGTGCCAG	0.617																																						ENST00000335123.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8						c.(22-24)cAg>cGg		late cornified envelope 1A							51.0	62.0	58.0					1																	152799971		2203	4300	6503	SO:0001583	missense	353131				keratinization			g.chr1:152799971A>G		CCDS1028.1	1q21.3	2011-01-28			ENSG00000186844	ENSG00000186844		"""Late cornified envelopes"""	29459	protein-coding gene	gene with protein product		612603				11698679	Standard	NM_178348		Approved	LEP1	uc010pdw.2	Q5T7P2	OTTHUMG00000012447	ENST00000335123.2:c.23A>G	1.37:g.152799971A>G	ENSP00000334869:p.Gln8Arg						p.Q8R	NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		1	23	+	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		8			Cys-rich.			Missense_Mutation	SNP	ENST00000335123.2	37	c.23A>G	CCDS1028.1	.	.	.	.	.	.	.	.	.	.	A	10.63	1.405217	0.25378	.	.	ENSG00000186844	ENST00000368766;ENST00000335123	T;T	0.03772	3.81;3.81	4.18	1.66	0.24008	.	0.000000	0.33753	N	0.004599	T	0.05777	0.0151	M	0.84948	2.725	0.22610	N	0.998934	D	0.56968	0.978	P	0.50754	0.649	T	0.10660	-1.0620	10	0.87932	D	0	.	8.3146	0.32093	0.6055:0.3945:0.0:0.0	.	8	Q5T7P2	LCE1A_HUMAN	R	8	ENSP00000357755:Q8R;ENSP00000334869:Q8R	ENSP00000334869:Q8R	Q	+	2	0	LCE1A	151066595	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.727000	0.47311	0.202000	0.20498	0.460000	0.39030	CAG		0.617	LCE1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034660.2	NM_178348		20	319	0	0	0	1	0	20	319				
RRAS2	22800	broad.mit.edu	37	11	14316390	14316390	+	Missense_Mutation	SNP	T	T	A	rs113954997		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr11:14316390T>A	ENST00000256196.4	-	3	528	c.215A>T	c.(214-216)cAa>cTa	p.Q72L	RRAS2_ENST00000537760.1_Missense_Mutation_p.Q37L|RRAS2_ENST00000545643.1_Missense_Mutation_p.Q78L|RRAS2_ENST00000526063.1_5'UTR|RRAS2_ENST00000414023.2_5'UTR|RRAS2_ENST00000529237.1_5'UTR|RRAS2_ENST00000534746.1_5'UTR|RRAS2_ENST00000532814.1_5'UTR			P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2	72			Q -> L (in an ovarian cancer sample; somatic mutation). {ECO:0000269|PubMed:8052619}.		osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.Q72L(2)		breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		AAACTCTTCTTGTCCTGCTGT	0.393																																						ENST00000545643.1																			2	Substitution - Missense(2)	p.Q72L(2)	lung(1)|endometrium(1)	breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12						c.(232-234)cAa>cTa		related RAS viral (r-ras) oncogene homolog 2							116.0	118.0	117.0					11																	14316390		2200	4294	6494	SO:0001583	missense	22800					endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr11:14316390T>A	M31468	CCDS7814.1, CCDS44544.1, CCDS53603.1	11p15.2	2014-05-09			ENSG00000133818	ENSG00000133818			17271	protein-coding gene	gene with protein product		600098				2108320, 8052619	Standard	NM_012250		Approved	TC21	uc001mlf.4	P62070	OTTHUMG00000165756	ENST00000256196.4:c.215A>T	11.37:g.14316390T>A	ENSP00000256196:p.Gln72Leu					RRAS2_ENST00000534746.1_5'UTR|RRAS2_ENST00000529237.1_5'UTR|RRAS2_ENST00000414023.2_5'UTR|RRAS2_ENST00000537760.1_Missense_Mutation_p.Q37L|RRAS2_ENST00000526063.1_5'UTR|RRAS2_ENST00000532814.1_5'UTR|RRAS2_ENST00000256196.4_Missense_Mutation_p.Q72L	p.Q78L	NM_012250.5	NP_036382.2	P62070	RRAS2_HUMAN		Epithelial(150;0.203)	3	546	-			72					B2R9Z3|B7Z5Z2|B7Z6C4|B7Z7H6|P17082	Missense_Mutation	SNP	ENST00000256196.4	37	c.233A>T	CCDS7814.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.861739	0.91433	.	.	ENSG00000133818	ENST00000537760;ENST00000545643;ENST00000256196;ENST00000531807	D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79	5.57	5.57	0.84162	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.93789	0.8014	H	0.97365	3.99	0.80722	D	1	D;P	0.67145	0.996;0.946	D;P	0.63033	0.91;0.473	D	0.95850	0.8874	10	0.87932	D	0	.	15.3905	0.74739	0.0:0.0:0.0:1.0	.	78;72	B7Z5Z2;P62070	.;RRAS2_HUMAN	L	37;78;72;53	ENSP00000437547:Q37L;ENSP00000441722:Q78L;ENSP00000256196:Q72L;ENSP00000435453:Q53L	ENSP00000256196:Q72L	Q	-	2	0	RRAS2	14272966	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.702000	0.84576	2.127000	0.65507	0.402000	0.26972	CAA		0.393	RRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386035.1	NM_012250		88	91	0	0	0	1	0	88	91				
ITIH5	80760	broad.mit.edu	37	10	7605313	7605313	+	Silent	SNP	T	T	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr10:7605313T>C	ENST00000256861.6	-	14	2640	c.2562A>G	c.(2560-2562)gaA>gaG	p.E854E	ITIH5_ENST00000446830.2_Silent_p.E636E|ITIH5_ENST00000298441.6_Silent_p.E640E|ITIH5_ENST00000397146.2_Intron	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	854					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CTGCAGGGTCTTCTGTGAGTC	0.567																																						ENST00000256861.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						c.(2560-2562)gaA>gaG		inter-alpha-trypsin inhibitor heavy chain family, member 5							57.0	55.0	56.0					10																	7605313		2203	4300	6503	SO:0001819	synonymous_variant	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7605313T>C			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.2562A>G	10.37:g.7605313T>C						ITIH5_ENST00000446830.2_Silent_p.E636E|ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000298441.6_Silent_p.E640E	p.E854E	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN			14	2640	-			854					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Silent	SNP	ENST00000256861.6	37	c.2562A>G																																																																																					0.567	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		5	45	0	0	0	1	0	5	45				
PDCD4	27250	broad.mit.edu	37	10	112650324	112650324	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr10:112650324G>T	ENST00000280154.7	+	8	1160	c.886G>T	c.(886-888)Gat>Tat	p.D296Y	PDCD4_ENST00000481353.1_3'UTR|PDCD4_ENST00000393104.2_Missense_Mutation_p.D285Y	NM_001199492.1|NM_014456.4	NP_001186421.1|NP_055271.2	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	296					apoptotic process (GO:0006915)|cell aging (GO:0007569)|negative regulation of cell cycle (GO:0045786)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		AGCTGCTCTGGATAAGGCTAC	0.408																																					Ovarian(115;1498 1603 9363 40056 40885)	ENST00000393104.2																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13						c.(853-855)Gat>Tat		programmed cell death 4 (neoplastic transformation inhibitor)							141.0	143.0	143.0					10																	112650324		2203	4300	6503	SO:0001583	missense	27250				apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding	g.chr10:112650324G>T	U83908	CCDS7567.1, CCDS44478.1	10q24	2008-08-01			ENSG00000150593	ENSG00000150593			8763	protein-coding gene	gene with protein product	"""nuclear antigen H731"""	608610				9759869	Standard	NM_014456		Approved	H731	uc001kzh.3	Q53EL6	OTTHUMG00000019048	ENST00000280154.7:c.886G>T	10.37:g.112650324G>T	ENSP00000280154:p.Asp296Tyr					PDCD4_ENST00000280154.7_Missense_Mutation_p.D296Y|PDCD4_ENST00000481353.1_3'UTR	p.D285Y	NM_145341.3	NP_663314.1	Q53EL6	PDCD4_HUMAN		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)	9	1213	+		Breast(234;0.0848)|Lung NSC(174;0.238)	296					B2RCV4|B5ME91|O15501|Q5VZS6|Q6PJI5|Q8TAR5|Q99834	Missense_Mutation	SNP	ENST00000280154.7	37	c.853G>T	CCDS7567.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571577	0.65765	.	.	ENSG00000150593	ENST00000280154;ENST00000393104	T;T	0.41400	1.0;1.0	5.34	4.43	0.53597	Armadillo-type fold (1);	0.044847	0.85682	D	0.000000	T	0.46328	0.1387	M	0.70595	2.14	0.80722	D	1	P;P;P	0.49783	0.781;0.781;0.928	B;B;B	0.44133	0.321;0.321;0.442	T	0.55386	-0.8149	10	0.72032	D	0.01	-9.8168	13.4182	0.60980	0.0758:0.0:0.9242:0.0	.	282;296;285	B4DKX4;Q53EL6;B5ME91	.;PDCD4_HUMAN;.	Y	296;285	ENSP00000280154:D296Y;ENSP00000376816:D285Y	ENSP00000280154:D296Y	D	+	1	0	PDCD4	112640314	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.356000	0.73046	2.496000	0.84212	0.650000	0.86243	GAT		0.408	PDCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050361.1	NM_014456		10	69	1	0	3.86212e-05	1	4.08211e-05	10	69				
APEX1	328	broad.mit.edu	37	14	20925652	20925652	+	Silent	SNP	A	A	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr14:20925652A>T	ENST00000216714.3	+	5	1210	c.942A>T	c.(940-942)ctA>ctT	p.L314L	APEX1_ENST00000398030.4_Silent_p.L314L|OSGEP_ENST00000556252.1_5'Flank|APEX1_ENST00000557054.1_3'UTR|OSGEP_ENST00000206542.4_5'Flank|APEX1_ENST00000555414.1_Silent_p.L314L	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	314	Mitochondrial targeting sequence (MTS).				aging (GO:0007568)|base-excision repair (GO:0006284)|cell redox homeostasis (GO:0045454)|cellular response to cAMP (GO:0071320)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to peptide hormone stimulus (GO:0071375)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA demethylation (GO:0080111)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|negative regulation of smooth muscle cell migration (GO:0014912)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oxidation-reduction process (GO:0055114)|positive regulation of DNA repair (GO:0045739)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribosome (GO:0005840)|transcription factor complex (GO:0005667)	3'-5' exonuclease activity (GO:0008408)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|phosphodiesterase I activity (GO:0004528)|phosphoric diester hydrolase activity (GO:0008081)|poly(A) RNA binding (GO:0044822)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|uracil DNA N-glycosylase activity (GO:0004844)			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	CTATCACCCTATACCTAGCAC	0.473								Other BER factors																														ENST00000216714.3																			0				breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9						c.(940-942)ctA>ctT	Other BER factors	APEX nuclease (multifunctional DNA repair enzyme) 1	Lucanthone(DB04967)						142.0	129.0	134.0					14																	20925652		2203	4300	6503	SO:0001819	synonymous_variant	328				base-excision repair|DNA demethylation|DNA recombination|positive regulation of anti-apoptosis|positive regulation of DNA repair|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome	3'-5' exonuclease activity|chromatin DNA binding|damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|RNA binding|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity	g.chr14:20925652A>T	X59764	CCDS9550.1	14q11.2	2008-02-05	2002-09-11	2002-09-13	ENSG00000100823	ENSG00000100823	4.2.99.18		587	protein-coding gene	gene with protein product		107748	"""APEX nuclease (multifunctional DNA repair enzyme)"""	APEX			Standard	NM_001641		Approved	APE, REF1, HAP1, APX, APEN, REF-1, APE-1	uc021rnr.1	P27695	OTTHUMG00000029544	ENST00000216714.3:c.942A>T	14.37:g.20925652A>T						APEX1_ENST00000555414.1_Silent_p.L314L|APEX1_ENST00000398030.4_Silent_p.L314L|APEX1_ENST00000557054.1_3'UTR	p.L314L	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	5	1210	+	all_cancers(95;0.00123)	all_lung(585;0.235)	314			Mitochondrial targeting sequence (MTS).		Q969L5|Q99775	Silent	SNP	ENST00000216714.3	37	c.942A>T	CCDS9550.1																																																																																				0.473	APEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073641.3	NM_001641		12	154	0	0	0	1	0	12	154				
IRAK4	51135	broad.mit.edu	37	12	44165125	44165125	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr12:44165125G>C	ENST00000448290.2	+	3	335	c.264G>C	c.(262-264)ttG>ttC	p.L88F	IRAK4_ENST00000440781.2_Intron|IRAK4_ENST00000551736.1_Missense_Mutation_p.L88F|IRAK4_ENST00000431837.1_Intron	NM_016123.3	NP_057207.2	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	88	Death.				cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		TGGATCTTTTGATCCAAAATG	0.418																																						ENST00000448290.2																			0											c.(262-264)ttG>ttC		interleukin-1 receptor-associated kinase 4							95.0	91.0	92.0					12																	44165125		2203	4300	6503	SO:0001583	missense	51135				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr12:44165125G>C	AF155118	CCDS8744.1, CCDS44862.1	12q12	2014-09-17				ENSG00000198001			17967	protein-coding gene	gene with protein product		606883				3772297, 10508479	Standard	NM_001114182		Approved	NY-REN-64	uc001rnt.3	Q9NWZ3		ENST00000448290.2:c.264G>C	12.37:g.44165125G>C	ENSP00000390651:p.Leu88Phe					IRAK4_ENST00000551736.1_Missense_Mutation_p.L88F|IRAK4_ENST00000440781.2_Intron|IRAK4_ENST00000431837.1_Intron	p.L88F	NM_016123.3	NP_057207.2	Q9NWZ3	IRAK4_HUMAN		GBM - Glioblastoma multiforme(48;0.04)	3	335	+	all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)	88			Death.		Q69FE1|Q8TDF7|Q9Y589	Missense_Mutation	SNP	ENST00000448290.2	37	c.264G>C	CCDS8744.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.780764	0.90195	.	.	ENSG00000198001	ENST00000550616;ENST00000448290;ENST00000551736;ENST00000356669	T;T;T	0.76709	-1.04;-1.04;-1.04	6.16	5.27	0.74061	DEATH-like (2);	0.000000	0.85682	D	0.000000	D	0.88533	0.6462	M	0.86651	2.83	0.80722	D	1	D	0.71674	0.998	D	0.64877	0.93	D	0.89196	0.3554	10	0.56958	D	0.05	-12.0328	15.9802	0.80102	0.0651:0.0:0.9349:0.0	.	88	Q9NWZ3	IRAK4_HUMAN	F	88	ENSP00000446571:L88F;ENSP00000390651:L88F;ENSP00000446490:L88F	ENSP00000349096:L88F	L	+	3	2	IRAK4	42451392	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	3.085000	0.50151	2.937000	0.99478	0.650000	0.86243	TTG		0.418	IRAK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403947.1			11	51	0	0	0	1	0	11	51				
TSHZ2	128553	broad.mit.edu	37	20	51871857	51871857	+	Missense_Mutation	SNP	C	C	G	rs143642849		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr20:51871857C>G	ENST00000371497.5	+	2	2747	c.1860C>G	c.(1858-1860)caC>caG	p.H620Q	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.H617Q|TSHZ2_ENST00000603338.2_Missense_Mutation_p.H617Q	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	620					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AAAGTCCCCACGAAGAGGCCT	0.517																																						ENST00000371497.5																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(1858-1860)caC>caG		teashirt zinc finger homeobox 2							78.0	81.0	80.0					20																	51871857		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51871857C>G	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.1860C>G	20.37:g.51871857C>G	ENSP00000360552:p.His620Gln					TSHZ2_ENST00000603338.2_Missense_Mutation_p.H617Q|TSHZ2_ENST00000329613.6_Missense_Mutation_p.H617Q	p.H620Q	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	2747	+			620					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.1860C>G	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	c	0.001	-3.500776	0.00010	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.37235	1.21;1.21	5.24	-10.5	0.00291	.	0.716345	0.14341	N	0.325745	T	0.13072	0.0317	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39702	-0.9601	10	0.13108	T	0.6	-2.6116	2.2664	0.04079	0.1387:0.2486:0.2228:0.3899	.	620	Q9NRE2	TSH2_HUMAN	Q	620;617;146	ENSP00000360552:H620Q;ENSP00000333114:H617Q	ENSP00000333114:H617Q	H	+	3	2	TSHZ2	51305264	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-5.005000	0.00161	-5.748000	0.00010	-2.228000	0.00293	CAC		0.517	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		35	113	0	0	0	1	0	35	113				
DPP10	57628	broad.mit.edu	37	2	116594298	116594298	+	Missense_Mutation	SNP	T	T	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr2:116594298T>G	ENST00000410059.1	+	24	2638	c.2158T>G	c.(2158-2160)Tta>Gta	p.L720V	DPP10_ENST00000409163.1_Missense_Mutation_p.L670V|DPP10_ENST00000393147.2_Missense_Mutation_p.L724V|DPP10_ENST00000310323.8_Missense_Mutation_p.L713V	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	720						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						AGAAAATATATTAATAATTCA	0.338																																						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.(2158-2160)Tta>Gta		dipeptidyl-peptidase 10 (non-functional)							83.0	101.0	95.0					2																	116594298		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116594298T>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.2158T>G	2.37:g.116594298T>G	ENSP00000386565:p.Leu720Val					DPP10_ENST00000409163.1_Missense_Mutation_p.L670V|DPP10_ENST00000310323.8_Missense_Mutation_p.L713V|DPP10_ENST00000393147.2_Missense_Mutation_p.L724V	p.L720V	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN			24	2638	+			720					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.2158T>G	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	T	16.77	3.214419	0.58452	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.15	4.0	0.46444	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.150651	0.45361	D	0.000378	T	0.67078	0.2855	M	0.87038	2.855	0.47905	D	0.999545	D;P;D;D	0.76494	0.999;0.731;0.999;0.999	D;P;D;D	0.72982	0.964;0.449;0.979;0.979	T	0.68473	-0.5399	10	0.87932	D	0	-25.5718	5.721	0.17986	0.0:0.2794:0.0:0.7206	.	713;724;716;720	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	V	720;670;724;713	ENSP00000386565:L720V;ENSP00000387038:L670V;ENSP00000376855:L724V;ENSP00000309066:L713V	ENSP00000309066:L713V	L	+	1	2	DPP10	116310768	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	0.385000	0.20685	0.988000	0.38734	0.459000	0.35465	TTA		0.338	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		24	108	0	0	0	1	0	24	108				
FLG2	388698	broad.mit.edu	37	1	152325523	152325523	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:152325523G>C	ENST00000388718.5	-	3	4811	c.4739C>G	c.(4738-4740)aCt>aGt	p.T1580S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1580					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCACTGTCAGTGGACTCACT	0.507																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(4738-4740)aCt>aGt		filaggrin family member 2							305.0	280.0	288.0					1																	152325523		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152325523G>C	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4739C>G	1.37:g.152325523G>C	ENSP00000373370:p.Thr1580Ser					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.T1580S	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4811	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1580					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.4739C>G	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.723484	0.00700	.	.	ENSG00000143520	ENST00000388718	T	0.15017	2.46	3.8	-0.695	0.11291	.	.	.	.	.	T	0.00608	0.0020	N	0.00071	-2.275	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46091	-0.9216	9	0.06099	T	0.92	-0.2849	7.9689	0.30115	0.0:0.5936:0.307:0.0994	.	1580	Q5D862	FILA2_HUMAN	S	1580	ENSP00000373370:T1580S	ENSP00000373370:T1580S	T	-	2	0	FLG2	150592147	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.025000	0.13577	-0.383000	0.07858	-2.517000	0.00185	ACT		0.507	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		9	736	0	0	0	1	0	9	736				
TRANK1	9881	broad.mit.edu	37	3	36874297	36874297	+	Silent	SNP	T	T	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr3:36874297T>G	ENST00000429976.2	-	21	6892	c.6645A>C	c.(6643-6645)acA>acC	p.T2215T	TRANK1_ENST00000428977.2_Silent_p.T1665T|TRANK1_ENST00000301807.6_Silent_p.T1665T	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2215							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CATACATATCTGTAGACAAAA	0.388																																						ENST00000429976.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(6643-6645)acA>acC		tetratricopeptide repeat and ankyrin repeat containing 1							73.0	71.0	72.0					3																	36874297		1826	4073	5899	SO:0001819	synonymous_variant	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36874297T>G	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.6645A>C	3.37:g.36874297T>G						TRANK1_ENST00000428977.2_Silent_p.T1665T|TRANK1_ENST00000301807.6_Silent_p.T1665T	p.T2215T			O15050	TRNK1_HUMAN			21	6892	-			2215					Q8N8K0	Silent	SNP	ENST00000429976.2	37	c.6645A>C	CCDS46789.2																																																																																				0.388	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		19	52	0	0	0	1	0	19	52				
ARHGEF25	115557	broad.mit.edu	37	12	58010124	58010124	+	Missense_Mutation	SNP	G	G	A	rs116051216		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr12:58010124G>A	ENST00000286494.4	+	14	1938	c.1478G>A	c.(1477-1479)cGg>cAg	p.R493Q	AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.R532Q|AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000610219.1_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	493	Sufficient to bind activated GNAQ.					cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R493Q(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						AGCCTGGGGCGGCCAAGAGGG	0.592													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17880	0.0		0.0	False		,,,				2504	0.0					ENST00000286494.4																			1	Substitution - Missense(1)	p.R493Q(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(1477-1479)cGg>cAg		Rho guanine nucleotide exchange factor (GEF) 25		G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	62.0	66.0	65.0		1595,1478	4.8	1.0	12	dbSNP_132	65	0,8600		0,0,4300	no	missense,missense	ARHGEF25	NM_001111270.1,NM_182947.2	43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	532/620,493/581	58010124	1,13005	2203	4300	6503	SO:0001583	missense	115557				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity	g.chr12:58010124G>A		CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"""Rho guanine nucleotide exchange factors"""	30275	protein-coding gene	gene with protein product	"""RAC/CDC42 exchange factor"""	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.1478G>A	12.37:g.58010124G>A	ENSP00000286494:p.Arg493Gln					AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000444467.1_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.R532Q	p.R493Q	NM_182947.3	NP_891992.2	Q86VW2	ARHGP_HUMAN			14	1938	+			493			Sufficient to bind activated GNAQ.		A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Missense_Mutation	SNP	ENST00000286494.4	37	c.1478G>A	CCDS8947.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	20.3	3.974957	0.74360	2.27E-4	0.0	ENSG00000240771	ENST00000333972;ENST00000286494	T;T	0.21734	1.99;1.99	4.77	4.77	0.60923	Pleckstrin homology-type (1);	0.000000	0.34067	N	0.004298	T	0.39200	0.1069	L	0.50333	1.59	0.47183	D	0.999344	D;D	0.76494	0.999;0.994	D;D	0.77557	0.99;0.921	T	0.05801	-1.0863	10	0.54805	T	0.06	.	13.5047	0.61477	0.0:0.0:1.0:0.0	.	532;493	F8W7Z4;Q86VW2	.;ARHGP_HUMAN	Q	532;493	ENSP00000335560:R532Q;ENSP00000286494:R493Q	ENSP00000286494:R493Q	R	+	2	0	ARHGEF25	56296391	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	4.786000	0.62425	2.655000	0.90218	0.650000	0.86243	CGG		0.592	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000326561.1	NM_133483		47	66	0	0	0	1	0	47	66				
KIAA1033	23325	broad.mit.edu	37	12	105558018	105558018	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr12:105558018C>G	ENST00000332180.5	+	31	3374	c.3287C>G	c.(3286-3288)gCc>gGc	p.A1096G	KIAA1033_ENST00000547171.1_3'UTR	NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						GTACAGTCAGCCAGTCAAGAT	0.433																																						ENST00000332180.5																			0				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(3286-3288)gCc>gGc		KIAA1033							105.0	100.0	102.0					12																	105558018		1875	4113	5988	SO:0001583	missense	23325				endosome transport	WASH complex		g.chr12:105558018C>G	AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.3287C>G	12.37:g.105558018C>G	ENSP00000328062:p.Ala1096Gly					KIAA1033_ENST00000547171.1_3'UTR	p.A1096G	NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN			31	3374	+			1096						Missense_Mutation	SNP	ENST00000332180.5	37	c.3287C>G	CCDS41826.1	.	.	.	.	.	.	.	.	.	.	C	6.375	0.437211	0.12104	.	.	ENSG00000136051	ENST00000332180	T	0.77358	-1.09	5.93	5.93	0.95920	.	0.555000	0.21166	N	0.079065	T	0.46502	0.1396	N	0.01109	-1.01	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31475	-0.9942	10	0.09843	T	0.71	.	10.2863	0.43568	0.1349:0.7962:0.0:0.0689	.	1097;1096	B7ZKT9;Q2M389	.;WASH7_HUMAN	G	1096	ENSP00000328062:A1096G	ENSP00000328062:A1096G	A	+	2	0	KIAA1033	104082148	0.004000	0.15560	0.019000	0.16419	0.547000	0.35210	2.064000	0.41432	2.826000	0.97356	0.655000	0.94253	GCC		0.433	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4	NM_015275		7	32	0	0	0	1	0	7	32				
UQCC1	55245	broad.mit.edu	37	20	33971845	33971845	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr20:33971845C>T	ENST00000374385.5	-	3	398	c.221G>A	c.(220-222)cGt>cAt	p.R74H	UQCC1_ENST00000374380.2_Intron|UQCC1_ENST00000407996.2_Splice_Site|UQCC1_ENST00000542501.1_Missense_Mutation_p.R74H|UQCC1_ENST00000359226.2_Missense_Mutation_p.R74H|UQCC1_ENST00000491125.1_5'UTR|UQCC1_ENST00000349714.5_Missense_Mutation_p.R74H|UQCC1_ENST00000397556.3_Intron|UQCC1_ENST00000397554.1_Missense_Mutation_p.R74H|UQCC1_ENST00000540457.1_Intron|UQCC1_ENST00000374377.5_Intron|UQCC1_ENST00000374384.2_Missense_Mutation_p.R74H	NM_018244.4	NP_060714.3	Q9NVA1	UQCC1_HUMAN	ubiquinol-cytochrome c reductase complex assembly factor 1	74						cytoplasmic membrane-bounded vesicle (GO:0016023)|mitochondrion (GO:0005739)											TCTCACCTTACGTGTGGTGTG	0.433																																						ENST00000397554.1																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	17						c.(220-222)cGt>cAt									174.0	140.0	151.0					20																	33971845		2203	4300	6503	SO:0001583	missense	0					cytoplasmic membrane-bounded vesicle		g.chr20:33971845C>T	AK001712	CCDS13252.1, CCDS13253.1, CCDS13253.2, CCDS54458.1	20q11.22	2013-09-20	2013-09-20	2013-09-20	ENSG00000101019	ENSG00000101019		"""Mitochondrial respiratory chain complex assembly factors"""	15891	protein-coding gene	gene with protein product	"""Basic FGF-repressed Zic-binding protein"", ""cytochrome B protein synthesis 3 homolog (S. cerevisiae)"""	611797	"""chromosome 20 open reading frame 44"", ""ubiquinol-cytochrome c reductase complex chaperone"""	C20orf44, UQCC			Standard	NM_018244		Approved	FLJ10850, CBP3, BFZB	uc002xcd.3	Q9NVA1	OTTHUMG00000032335	ENST00000374385.5:c.221G>A	20.37:g.33971845C>T	ENSP00000363506:p.Arg74His					UQCC_ENST00000397556.3_Intron|UQCC_ENST00000374384.2_Missense_Mutation_p.R74H|UQCC_ENST00000359226.2_Missense_Mutation_p.R74H|UQCC_ENST00000349714.5_Missense_Mutation_p.R74H|UQCC_ENST00000542501.1_Missense_Mutation_p.R74H|UQCC_ENST00000374385.5_Missense_Mutation_p.R74H|UQCC_ENST00000407996.2_Splice_Site|UQCC_ENST00000374380.2_Intron|UQCC_ENST00000491125.1_5'UTR|UQCC_ENST00000540457.1_Intron|UQCC_ENST00000374377.5_Intron	p.R74H			Q9NVA1	UQCC_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		3	231	-			74					B1AKV5|Q0VF37|Q5T348|Q5T351|Q5T353|Q86YU3|Q86YU4|Q96H66|Q9H438|Q9H452|Q9H9K8|Q9H9R5	Missense_Mutation	SNP	ENST00000374385.5	37	c.221G>A	CCDS13252.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.916|4.916	0.170268|0.170268	0.09339|0.09339	.|.	.|.	ENSG00000101019|ENSG00000101019	ENST00000407996|ENST00000349714;ENST00000359226;ENST00000374384;ENST00000374385;ENST00000542501;ENST00000438533;ENST00000397554	.|D;D;D;D;D;D;D	.|0.86497	.|-2.13;-2.13;-2.13;-2.13;-2.13;-2.13;-2.13	5.02|5.02	-3.04|-3.04	0.05412|0.05412	.|.	.|0.767476	.|0.12669	.|N	.|0.448911	.|T	.|0.57548	.|0.2061	N|N	0.01048|0.01048	-1.04|-1.04	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.13145	.|0.0;0.007;0.0;0.0	.|B;B;B;B	.|0.06405	.|0.0;0.002;0.001;0.001	.|T	.|0.53899	.|-0.8373	.|10	.|0.37606	.|T	.|0.19	.|-3.5732	1.74|1.74	0.02950|0.02950	0.152:0.3653:0.1568:0.3259|0.152:0.3653:0.1568:0.3259	.|.	.|74;74;74;74	.|B7ZBG3;B1AKV2;B7ZBG4;Q9NVA1	.|.;.;.;UQCC_HUMAN	.|H	-1|74;74;74;74;74;88;74	.|ENSP00000335364:R74H;ENSP00000352161:R74H;ENSP00000363505:R74H;ENSP00000363506:R74H;ENSP00000445059:R74H;ENSP00000398531:R88H;ENSP00000380686:R74H	.|ENSP00000335364:R74H	.|R	-|-	.|2	.|0	UQCC|UQCC	33435259|33435259	0.961000|0.961000	0.32948|0.32948	0.722000|0.722000	0.30670|0.30670	0.356000|0.356000	0.29392|0.29392	0.124000|0.124000	0.15728|0.15728	-0.152000|-0.152000	0.11156|0.11156	-0.238000|-0.238000	0.12139|0.12139	.|CGT		0.433	UQCC1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078866.1	NM_018244		8	24	0	0	0	1	0	8	24				
ACTR3	10096	broad.mit.edu	37	2	114691916	114691916	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr2:114691916G>A	ENST00000263238.2	+	6	813	c.493G>A	c.(493-495)Ggt>Agt	p.G165S	ACTR3_ENST00000536059.1_Missense_Mutation_p.G103S|ACTR3_ENST00000535589.2_Missense_Mutation_p.G114S	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	P61158	ARP3_HUMAN	ARP3 actin-related protein 3 homolog (yeast)	165					Arp2/3 complex-mediated actin nucleation (GO:0034314)|asymmetric cell division (GO:0008356)|cellular component movement (GO:0006928)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|meiotic chromosome movement towards spindle pole (GO:0016344)|meiotic cytokinesis (GO:0033206)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neuron differentiation (GO:0045666)|regulation of myosin II filament organization (GO:0043519)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|spindle localization (GO:0051653)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|excitatory synapse (GO:0060076)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|hemidesmosome (GO:0030056)|lamellipodium (GO:0030027)|membrane (GO:0016020)|podosome (GO:0002102)	ATP binding (GO:0005524)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						GACGTTGACCGGTACGGTAAT	0.418																																						ENST00000263238.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						c.(493-495)Ggt>Agt		ARP3 actin-related protein 3 homolog (yeast)							264.0	239.0	248.0					2																	114691916		2203	4300	6503	SO:0001583	missense	10096				cellular component movement|cilium morphogenesis	Arp2/3 protein complex	actin binding|ATP binding	g.chr2:114691916G>A	AF006083	CCDS33277.1, CCDS63000.1	2q14.1	2010-07-20	2001-11-28		ENSG00000115091	ENSG00000115091			170	protein-coding gene	gene with protein product		604222	"""ARP3 (actin-related protein 3, yeast) homolog"""			9230079	Standard	NM_005721		Approved	ARP3	uc002tkx.2	P61158	OTTHUMG00000153497	ENST00000263238.2:c.493G>A	2.37:g.114691916G>A	ENSP00000263238:p.Gly165Ser					ACTR3_ENST00000536059.1_Missense_Mutation_p.G103S|ACTR3_ENST00000535589.2_Missense_Mutation_p.G114S	p.G165S	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	P61158	ARP3_HUMAN			6	813	+			165					P32391|Q53QM2	Missense_Mutation	SNP	ENST00000263238.2	37	c.493G>A	CCDS33277.1	.	.	.	.	.	.	.	.	.	.	G	34	5.380691	0.95945	.	.	ENSG00000115091	ENST00000263238;ENST00000536059;ENST00000544784;ENST00000535589	T;T;T	0.12039	2.72;2.72;2.72	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.40815	0.1132	M	0.91717	3.235	0.80722	D	1	P;D	0.61080	0.953;0.989	B;P	0.54372	0.397;0.75	T	0.55655	-0.8107	10	0.87932	D	0	-8.8788	18.4376	0.90652	0.0:0.0:1.0:0.0	.	103;165	F5H3P5;P61158	.;ARP3_HUMAN	S	165;103;36;114	ENSP00000263238:G165S;ENSP00000445257:G103S;ENSP00000444987:G114S	ENSP00000263238:G165S	G	+	1	0	ACTR3	114408386	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	9.581000	0.98210	2.592000	0.87571	0.585000	0.79938	GGT		0.418	ACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331366.2	NM_005721		86	117	0	0	0	1	0	86	117				
AVIL	10677	broad.mit.edu	37	12	58197161	58197161	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr12:58197161T>C	ENST00000257861.3	-	15	2261	c.1831A>G	c.(1831-1833)Atc>Gtc	p.I611V	RP11-571M6.17_ENST00000602802.1_lincRNA|AVIL_ENST00000550083.1_5'UTR|AVIL_ENST00000537081.1_Missense_Mutation_p.I604V|RNU6-1083P_ENST00000384022.1_RNA|TSFM_ENST00000548851.1_Intron	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	611	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					ACATCTAGGATTTCCTGCTGA	0.433											OREG0021955	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000537081.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32						c.(1810-1812)Atc>Gtc		advillin							172.0	157.0	162.0					12																	58197161		2203	4300	6503	SO:0001583	missense	10677				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding	g.chr12:58197161T>C	AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.1831A>G	12.37:g.58197161T>C	ENSP00000257861:p.Ile611Val		OREG0021955	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1029	AVIL_ENST00000550083.1_5'UTR|TSFM_ENST00000548851.1_Intron|AVIL_ENST00000257861.3_Missense_Mutation_p.I611V	p.I604V			O75366	AVIL_HUMAN			15	1809	-	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		611			Core (By similarity).		B2RAU7|Q2NKM9	Missense_Mutation	SNP	ENST00000257861.3	37	c.1810A>G	CCDS8959.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.665049	0.00107	.	.	ENSG00000135407	ENST00000537081;ENST00000257861	T;T	0.41065	1.01;1.01	5.13	1.31	0.21738	.	1.014360	0.07872	N	0.968100	T	0.15262	0.0368	N	0.01228	-0.945	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.25467	-1.0131	10	0.10902	T	0.67	-2.4849	8.7132	0.34395	0.0:0.4638:0.0:0.5362	.	604;611	O75366-2;O75366	.;AVIL_HUMAN	V	604;611	ENSP00000443207:I604V;ENSP00000257861:I611V	ENSP00000257861:I611V	I	-	1	0	AVIL	56483428	0.001000	0.12720	0.131000	0.22000	0.007000	0.05969	0.548000	0.23314	0.263000	0.21812	0.459000	0.35465	ATC		0.433	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576		20	155	0	0	0	1	0	20	155				
ASTN1	460	broad.mit.edu	37	1	176915124	176915124	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:176915124G>T	ENST00000367654.3	-	13	2422	c.2211C>A	c.(2209-2211)ttC>ttA	p.F737L	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.F729L|ASTN1_ENST00000424564.2_Missense_Mutation_p.F729L|ASTN1_ENST00000367657.3_Missense_Mutation_p.F729L	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	737					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						TGTAACCAAAGAACATCTCCC	0.498																																						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.(2209-2211)ttC>ttA		astrotactin 1							122.0	122.0	122.0					1																	176915124		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176915124G>T	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.2211C>A	1.37:g.176915124G>T	ENSP00000356626:p.Phe737Leu					ASTN1_ENST00000361833.2_Missense_Mutation_p.F729L|ASTN1_ENST00000367657.3_Missense_Mutation_p.F729L|ASTN1_ENST00000424564.2_Missense_Mutation_p.F729L|ASTN1_ENST00000281881.3_5'UTR	p.F737L			O14525	ASTN1_HUMAN			13	2224	-			737					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.2211C>A		.	.	.	.	.	.	.	.	.	.	G	10.82	1.458254	0.26161	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.11063	2.81;3.23;3.23;2.81	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.10981	0.0268	N	0.04880	-0.145	0.58432	D	0.999997	D;P;P	0.56035	0.974;0.954;0.954	D;D;D	0.70487	0.969;0.943;0.943	T	0.19160	-1.0314	10	0.02654	T	1	-33.8887	11.9089	0.52727	0.0805:0.0:0.9195:0.0	.	737;729;729	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	L	729;729;737;729;729	ENSP00000356629:F729L;ENSP00000354536:F729L;ENSP00000356626:F737L;ENSP00000395041:F729L	ENSP00000354536:F729L	F	-	3	2	ASTN1	175181747	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.440000	0.44855	2.467000	0.83353	0.655000	0.94253	TTC		0.498	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		5	133	1	0	0.014758	1	0.0148469	5	133				
LILRB5	10990	broad.mit.edu	37	19	54754843	54754843	+	Intron	SNP	A	A	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr19:54754843A>G	ENST00000316219.5	-	13	1734				LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000450632.1_Missense_Mutation_p.S598P|CTD-2337J16.1_ENST00000595133.1_lincRNA	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607																																						ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1792-1794)Tcc>Ccc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5							43.0	42.0	42.0					19																	54754843		2191	4270	6461	SO:0001627	intron_variant	0				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54754843A>G	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1627-47T>C	19.37:g.54754843A>G						LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron	p.S598P			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	13	1869	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		423					Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.1792T>C	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	A	10.02	1.237390	0.22711	.	.	ENSG00000105609	ENST00000450632	T	0.00497	6.98	1.74	-0.656	0.11436	.	.	.	.	.	T	0.00328	0.0010	.	.	.	0.09310	N	1	B	0.24576	0.106	B	0.17433	0.018	T	0.45702	-0.9243	8	0.87932	D	0	.	1.6956	0.02861	0.475:0.0:0.2022:0.3228	.	598	C9JMK7	.	P	598	ENSP00000414225:S598P	ENSP00000414225:S598P	S	-	1	0	LILRB5	59446655	0.000000	0.05858	0.043000	0.18650	0.608000	0.37181	-0.873000	0.04214	-0.256000	0.09473	0.332000	0.21555	TCC		0.607	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			5	52	0	0	0	1	0	5	52				
FASTKD3	79072	broad.mit.edu	37	5	7863053	7863053	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr5:7863053G>C	ENST00000264669.5	-	4	1718	c.1582C>G	c.(1582-1584)Ctg>Gtg	p.L528V	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_5'UTR	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	528					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGGGTCTCCAGGGAACAGCAT	0.378																																						ENST00000264669.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1582-1584)Ctg>Gtg		FAST kinase domains 3							142.0	157.0	152.0					5																	7863053		2203	4300	6503	SO:0001583	missense	79072				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr5:7863053G>C	AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.1582C>G	5.37:g.7863053G>C	ENSP00000264669:p.Leu528Val					FASTKD3_ENST00000513658.1_5'UTR|MTRR_ENST00000502509.1_Intron	p.L528V	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN			4	1718	-			528					Q9BVD3	Missense_Mutation	SNP	ENST00000264669.5	37	c.1582C>G	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.715840	0.30413	.	.	ENSG00000124279	ENST00000264669	T	0.43294	0.95	5.65	1.8	0.24995	FAST kinase-like protein, subdomain 2 (1);	0.161551	0.42172	D	0.000759	T	0.33469	0.0864	M	0.63843	1.955	0.41687	D	0.989329	B	0.30763	0.294	B	0.31016	0.123	T	0.07385	-1.0775	10	0.13108	T	0.6	-7.861	7.5771	0.27942	0.1262:0.0:0.6363:0.2375	.	528	Q14CZ7	FAKD3_HUMAN	V	528	ENSP00000264669:L528V	ENSP00000264669:L528V	L	-	1	2	FASTKD3	7916053	0.768000	0.28519	0.983000	0.44433	0.826000	0.46750	0.561000	0.23515	0.145000	0.18977	-0.152000	0.13540	CTG		0.378	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091		71	167	0	0	0	1	0	71	167				
GNRHR	2798	broad.mit.edu	37	4	68619733	68619733	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr4:68619733C>G	ENST00000226413.4	-	1	345	c.321G>C	c.(319-321)tgG>tgC	p.W107C	UBA6-AS1_ENST00000502758.1_RNA|GNRHR_ENST00000420975.2_Missense_Mutation_p.W107C|UBA6-AS1_ENST00000500538.2_RNA	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	107					cellular response to gonadotropin-releasing hormone (GO:0097211)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gonadotropin-releasing hormone receptor activity (GO:0004968)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Buserelin(DB06719)|Cetrorelix(DB00050)|Danazol(DB01406)|Degarelix(DB06699)|Gonadorelin(DB00644)|Goserelin(DB00014)|Leuprolide(DB00007)|Nafarelin(DB00666)	CTCCAGCATACCATTGGACTG	0.473																																						ENST00000226413.4																			0				endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13						c.(319-321)tgG>tgC		gonadotropin-releasing hormone receptor	Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)						109.0	103.0	105.0					4																	68619733		2203	4300	6503	SO:0001583	missense	0				multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity	g.chr4:68619733C>G		CCDS3517.1, CCDS47064.1	4q21.2	2012-08-08			ENSG00000109163	ENSG00000109163		"""GPCR / Class A : Gonadotropin-releasing hormone receptors"""	4421	protein-coding gene	gene with protein product		138850		GRHR		8386108	Standard	NM_000406		Approved	LHRHR	uc003hdn.3	P30968	OTTHUMG00000129302	ENST00000226413.4:c.321G>C	4.37:g.68619733C>G	ENSP00000226413:p.Trp107Cys					GNRHR_ENST00000420975.2_Missense_Mutation_p.W107C|RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000502758.1_RNA	p.W107C	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN			1	345	-			107					O75793|Q14D13|Q92644	Missense_Mutation	SNP	ENST00000226413.4	37	c.321G>C	CCDS3517.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.561871	0.45590	.	.	ENSG00000109163	ENST00000226413;ENST00000420975	T;T	0.77877	-1.13;-1.13	6.03	6.03	0.97812	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000010	D	0.89966	0.6868	M	0.87617	2.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90785	0.4682	10	0.87932	D	0	-7.531	18.0507	0.89347	0.0:1.0:0.0:0.0	.	107;107	P30968;P30968-2	GNRHR_HUMAN;.	C	107	ENSP00000226413:W107C;ENSP00000397561:W107C	ENSP00000226413:W107C	W	-	3	0	GNRHR	68302328	1.000000	0.71417	1.000000	0.80357	0.096000	0.18686	7.560000	0.82277	2.861000	0.98227	0.655000	0.94253	TGG		0.473	GNRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251432.2			15	61	0	0	0	1	0	15	61				
PIWIL3	440822	broad.mit.edu	37	22	25153946	25153946	+	Missense_Mutation	SNP	A	A	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr22:25153946A>G	ENST00000332271.5	-	4	700	c.284T>C	c.(283-285)aTt>aCt	p.I95T	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_5'UTR|PIWIL3_ENST00000527701.1_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	95					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AACTCCACCAATCCTTCTCTC	0.438																																						ENST00000332271.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(283-285)aTt>aCt		piwi-like RNA-mediated gene silencing 3							208.0	214.0	212.0					22																	25153946		2203	4300	6503	SO:0001583	missense	440822				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	g.chr22:25153946A>G	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.284T>C	22.37:g.25153946A>G	ENSP00000330031:p.Ile95Thr					PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_5'UTR|PIWIL3_ENST00000533313.1_5'UTR	p.I95T	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN			4	700	-			95						Missense_Mutation	SNP	ENST00000332271.5	37	c.284T>C	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	A	4.161	0.028407	0.08054	.	.	ENSG00000184571	ENST00000332271	T	0.04156	3.69	1.79	-3.58	0.04597	.	45.696700	0.00829	U	0.001641	T	0.04048	0.0113	L	0.29908	0.895	0.09310	N	0.999999	B;B	0.19331	0.004;0.035	B;B	0.12837	0.003;0.008	T	0.41233	-0.9520	10	0.12766	T	0.61	5.6334	7.6642	0.28421	0.2013:0.6629:0.1358:0.0	.	95;95	B4DYF7;Q7Z3Z3	.;PIWL3_HUMAN	T	95	ENSP00000330031:I95T	ENSP00000330031:I95T	I	-	2	0	PIWIL3	23483946	0.000000	0.05858	0.000000	0.03702	0.120000	0.20174	-1.062000	0.03468	-1.370000	0.02144	0.254000	0.18369	ATT		0.438	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		86	155	0	0	0	1	0	86	155				
OTUD7A	161725	broad.mit.edu	37	15	31776314	31776314	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr15:31776314C>A	ENST00000307050.4	-	11	2056	c.1964G>T	c.(1963-1965)gGc>gTc	p.G655V	OTUD7A_ENST00000382902.1_Missense_Mutation_p.G662V	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	655					protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CAGGTAGTAGCCGATCATCTC	0.721																																						ENST00000382902.1																			0				endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(1984-1986)gGc>gTc		OTU domain containing 7A							14.0	14.0	14.0					15																	31776314		2159	4230	6389	SO:0001583	missense	161725					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	g.chr15:31776314C>A	AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"""OTU domain containing"""	20718	protein-coding gene	gene with protein product		612024	"""chromosome 15 open reading frame 16"", ""OTU domain containing 7"", ""OTU domain containing 7A"""	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.1964G>T	15.37:g.31776314C>A	ENSP00000305926:p.Gly655Val					OTUD7A_ENST00000307050.4_Missense_Mutation_p.G655V	p.G662V			Q8TE49	OTU7A_HUMAN		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)	11	2077	-		all_lung(180;1.6e-09)	655					Q8IWK5	Missense_Mutation	SNP	ENST00000307050.4	37	c.1985G>T	CCDS10026.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.953846	0.53293	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.30182	1.54;1.54	4.19	3.24	0.37175	.	0.359775	0.35096	N	0.003443	T	0.23330	0.0564	L	0.29908	0.895	0.58432	D	0.999996	P;B	0.36535	0.557;0.421	B;B	0.36766	0.232;0.116	T	0.02705	-1.1121	10	0.38643	T	0.18	-9.3957	13.04	0.58893	0.1626:0.8374:0.0:0.0	.	662;655	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	V	655;662	ENSP00000305926:G655V;ENSP00000372358:G662V	ENSP00000305926:G655V	G	-	2	0	OTUD7A	29563606	1.000000	0.71417	0.863000	0.33907	0.976000	0.68499	5.275000	0.65575	0.699000	0.31761	0.401000	0.26515	GGC		0.721	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	NM_130901		4	15	1	0	0.00116845	1	0.00120451	4	15				
PIK3CG	5294	broad.mit.edu	37	7	106508093	106508093	+	Silent	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr7:106508093G>A	ENST00000359195.3	+	2	397	c.87G>A	c.(85-87)gcG>gcA	p.A29A	PIK3CG_ENST00000440650.2_Silent_p.A29A|PIK3CG_ENST00000496166.1_Silent_p.A29A	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	29					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GCAGTGCTGCGGCCAGCCTGT	0.637																																						ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(85-87)gcG>gcA		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							42.0	47.0	46.0					7																	106508093		2203	4296	6499	SO:0001819	synonymous_variant	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508093G>A		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.87G>A	7.37:g.106508093G>A						PIK3CG_ENST00000496166.1_Silent_p.A29A|PIK3CG_ENST00000440650.2_Silent_p.A29A	p.A29A	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			2	397	+			29					A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	c.87G>A	CCDS5739.1																																																																																				0.637	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			19	140	0	0	0	1	0	19	140				
C10orf53	282966	broad.mit.edu	37	10	50901855	50901855	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr10:50901855G>T	ENST00000374111.3	+	2	145	c.133G>T	c.(133-135)Gag>Tag	p.E45*	C10orf53_ENST00000374112.3_Nonsense_Mutation_p.E45*|C10orf53_ENST00000374113.3_Nonsense_Mutation_p.E45*|CHAT_ENST00000455728.2_3'UTR|C10orf53_ENST00000535836.1_Nonsense_Mutation_p.E45*	NM_001042427.1	NP_001035892.1	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	45										endometrium(1)|lung(6)	7		all_neural(218;0.107)				GGTCATCCTAGAGAAGATAGA	0.473																																						ENST00000374113.3																			0				endometrium(1)|lung(6)	7						c.(133-135)Gag>Tag		chromosome 10 open reading frame 53							165.0	149.0	154.0					10																	50901855		2203	4300	6503	SO:0001587	stop_gained	282966							g.chr10:50901855G>T	BC028127	CCDS31202.1, CCDS41521.1	10q11.23	2012-05-24			ENSG00000178645	ENSG00000178645			27421	protein-coding gene	gene with protein product						12477932	Standard	NM_182554		Approved	Em:AC069546.1	uc001jid.1	Q8N6V4	OTTHUMG00000018199	ENST00000374111.3:c.133G>T	10.37:g.50901855G>T	ENSP00000363225:p.Glu45*					C10orf53_ENST00000535836.1_Nonsense_Mutation_p.E45*|C10orf53_ENST00000374112.3_Nonsense_Mutation_p.E45*|C10orf53_ENST00000374111.3_Nonsense_Mutation_p.E45*|CHAT_ENST00000455728.2_3'UTR	p.E45*			Q8N6V4	CJ053_HUMAN			2	180	+		all_neural(218;0.107)	45					A6NI81|A6NLE0|B9ZVK6	Nonsense_Mutation	SNP	ENST00000374111.3	37	c.133G>T	CCDS41521.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001285	0.54254	.	.	ENSG00000178645	ENST00000374113;ENST00000374111;ENST00000374112;ENST00000535836	.	.	.	5.74	2.64	0.31445	.	0.220807	0.26272	U	0.025338	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-16.5486	12.2377	0.54524	0.0707:0.2396:0.6897:0.0	.	.	.	.	X	45	.	ENSP00000363225:E45X	E	+	1	0	C10orf53	50571861	1.000000	0.71417	0.841000	0.33234	0.780000	0.44128	2.839000	0.48207	0.760000	0.33108	0.655000	0.94253	GAG		0.473	C10orf53-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048005.1	NM_182554		7	66	1	0	2.0095e-06	1	2.15119e-06	7	66				
TLR7	51284	broad.mit.edu	37	X	12903969	12903969	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chrX:12903969G>T	ENST00000380659.3	+	3	481	c.342G>T	c.(340-342)aaG>aaT	p.K114N		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	114					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|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 inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	TGTGCATCAAGAGGCTGCAGA	0.478																																						ENST00000380659.3																			0				NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44						c.(340-342)aaG>aaT		toll-like receptor 7	Imiquimod(DB00724)						106.0	103.0	104.0					X																	12903969		2203	4300	6503	SO:0001583	missense	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12903969G>T	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.342G>T	X.37:g.12903969G>T	ENSP00000370034:p.Lys114Asn						p.K114N	NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN			3	481	+			114					D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	c.342G>T	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	G	0.488	-0.876802	0.02550	.	.	ENSG00000196664	ENST00000380659	T	0.32988	1.43	5.78	2.64	0.31445	.	0.896444	0.09509	N	0.792653	T	0.20455	0.0492	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36432	-0.9748	10	0.19590	T	0.45	.	1.7503	0.02970	0.3274:0.1259:0.4149:0.1318	.	114	Q9NYK1	TLR7_HUMAN	N	114	ENSP00000370034:K114N	ENSP00000370034:K114N	K	+	3	2	TLR7	12813890	0.005000	0.15991	0.000000	0.03702	0.029000	0.11900	0.100000	0.15231	0.076000	0.16826	0.589000	0.80489	AAG		0.478	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		39	80	1	0	9.62906e-15	1	1.07923e-14	39	80				
HRNR	388697	broad.mit.edu	37	1	152191669	152191669	+	Silent	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:152191669G>A	ENST00000368801.2	-	3	2511	c.2436C>T	c.(2434-2436)ggC>ggT	p.G812G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	812					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGAAGCCTGGCCTGAGCCAG	0.572																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(2434-2436)ggC>ggT		hornerin							65.0	71.0	69.0					1																	152191669		2203	4300	6503	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152191669G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2436C>T	1.37:g.152191669G>A						FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.G812G	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2511	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		812					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.2436C>T	CCDS30859.1																																																																																				0.572	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		35	230	0	0	0	1	0	35	230				
BRINP2	57795	broad.mit.edu	37	1	177199126	177199126	+	Silent	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:177199126G>A	ENST00000361539.4	+	2	426	c.114G>A	c.(112-114)gcG>gcA	p.A38A		NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	38					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											CAGCCACGGCGGCTGCTGTGG	0.692																																						ENST00000361539.4																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						c.(112-114)gcG>gcA									27.0	31.0	30.0					1																	177199126		2203	4299	6502	SO:0001819	synonymous_variant	0					extracellular region		g.chr1:177199126G>A		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.114G>A	1.37:g.177199126G>A							p.A38A	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN			2	426	+			38					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Silent	SNP	ENST00000361539.4	37	c.114G>A	CCDS1320.1																																																																																				0.692	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		33	46	0	0	0	1	0	33	46				
VWA8	23078	broad.mit.edu	37	13	42293839	42293839	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr13:42293839C>T	ENST00000379310.3	-	26	3072	c.3004G>A	c.(3004-3006)Gtg>Atg	p.V1002M	VWA8_ENST00000281496.6_Missense_Mutation_p.V1002M	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1002						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										AAGTCAAACACATTTCGAACT	0.343																																						ENST00000379310.3																			0											c.(3004-3006)Gtg>Atg		von Willebrand factor A domain containing 8							147.0	128.0	135.0					13																	42293839		2203	4300	6503	SO:0001583	missense	23078							g.chr13:42293839C>T	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.3004G>A	13.37:g.42293839C>T	ENSP00000368612:p.Val1002Met					VWA8_ENST00000281496.6_Missense_Mutation_p.V1002M	p.V1002M	NM_015058.1	NP_055873.1					26	3072	-								O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.3004G>A	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.926164	0.92319	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496	T;T	0.26223	1.75;1.92	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.60547	0.2277	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67681	-0.5608	10	0.87932	D	0	.	19.5547	0.95338	0.0:1.0:0.0:0.0	.	1002	A3KMH1	K0564_HUMAN	M	906;1002;1002	ENSP00000368612:V1002M;ENSP00000281496:V1002M	ENSP00000251030:V906M	V	-	1	0	KIAA0564	41191839	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.744000	0.85034	2.694000	0.91930	0.585000	0.79938	GTG		0.343	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		5	21	0	0	0	1	0	5	21				
DISP1	84976	broad.mit.edu	37	1	223116295	223116295	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:223116295G>C	ENST00000284476.6	+	2	294	c.130G>C	c.(130-132)Gaa>Caa	p.E44Q	DISP1_ENST00000495684.1_Intron|DISP1_ENST00000360254.2_Missense_Mutation_p.E44Q	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	44					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CACACCCAAAGAAGCAACAAG	0.507																																						ENST00000284476.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(130-132)Gaa>Caa		dispatched homolog 1 (Drosophila)							162.0	146.0	152.0					1																	223116295		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223116295G>C	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.130G>C	1.37:g.223116295G>C	ENSP00000284476:p.Glu44Gln					DISP1_ENST00000495684.1_Intron|DISP1_ENST00000360254.2_Missense_Mutation_p.E44Q	p.E44Q	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	2	294	+			44					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.130G>C	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839716	0.71488	.	.	ENSG00000154309	ENST00000360254;ENST00000284476	T;D	0.93076	0.65;-3.16	5.77	5.77	0.91146	.	0.299519	0.30820	N	0.008804	D	0.93618	0.7962	M	0.65975	2.015	0.44149	D	0.99694	P	0.43633	0.813	B	0.42798	0.398	D	0.93966	0.7245	10	0.72032	D	0.01	-13.085	19.9831	0.97336	0.0:0.0:1.0:0.0	.	44	Q96F81	DISP1_HUMAN	Q	44	ENSP00000355848:E44Q;ENSP00000284476:E44Q	ENSP00000284476:E44Q	E	+	1	0	DISP1	221182918	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.159000	0.77483	2.728000	0.93425	0.650000	0.86243	GAA		0.507	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		15	57	0	0	0	1	0	15	57				
OR1M1	125963	broad.mit.edu	37	19	9204125	9204125	+	Missense_Mutation	SNP	G	G	A	rs202009987		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr19:9204125G>A	ENST00000429566.3	+	1	271	c.205G>A	c.(205-207)Gtt>Att	p.V69I		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V69I(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCTGTCCCTGGTTGATTTCTG	0.557																																						ENST00000429566.3																			2	Substitution - Missense(2)	p.V69I(2)	prostate(1)|lung(1)	breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(205-207)Gtt>Att		olfactory receptor, family 1, subfamily M, member 1							108.0	82.0	91.0					19																	9204125		2203	4300	6503	SO:0001583	missense	125963				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9204125G>A		CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"""GPCR / Class A : Olfactory receptors"""	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.205G>A	19.37:g.9204125G>A	ENSP00000401966:p.Val69Ile						p.V69I	NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN			1	271	+			69					B9EHA6|Q6IFJ3|Q96R91	Missense_Mutation	SNP	ENST00000429566.3	37	c.205G>A	CCDS32896.1	.	.	.	.	.	.	.	.	.	.	g	11.00	1.509904	0.27036	.	.	ENSG00000170929	ENST00000305465;ENST00000429566	T	0.02916	4.11	3.49	-0.909	0.10514	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000102	T	0.05960	0.0155	L	0.39397	1.21	0.09310	N	1	D	0.64830	0.994	D	0.70716	0.97	T	0.23154	-1.0196	10	0.54805	T	0.06	.	4.7447	0.13031	0.4655:0.159:0.3755:0.0	.	69	Q8NGA1	OR1M1_HUMAN	I	72;69	ENSP00000401966:V69I	ENSP00000303195:V72I	V	+	1	0	OR1M1	9065125	0.000000	0.05858	0.004000	0.12327	0.429000	0.31625	-5.071000	0.00154	-0.175000	0.10725	-0.508000	0.04489	GTT		0.557	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448993.1			4	115	0	0	0	1	0	4	115				
WNT4	54361	broad.mit.edu	37	1	22456324	22456324	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:22456324G>A	ENST00000290167.6	-	2	141	c.98C>T	c.(97-99)tCg>tTg	p.S33L	WNT4_ENST00000542383.1_5'UTR	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN	wingless-type MMTV integration site family, member 4	33					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|embryonic epithelial tube formation (GO:0001838)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization to plasma membrane (GO:0090002)|female gonad development (GO:0008585)|female sex determination (GO:0030237)|immature T cell proliferation in thymus (GO:0033080)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|mammary gland epithelium development (GO:0061180)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric nephron morphogenesis (GO:0072273)|metanephric tubule formation (GO:0072174)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of gene expression (GO:0010629)|negative regulation of male gonad development (GO:2000019)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of testicular blood vessel morphogenesis (GO:0061369)|negative regulation of testosterone biosynthetic process (GO:2000225)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of wound healing (GO:0061045)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via MAPK cascade (GO:0038030)|oocyte development (GO:0048599)|paramesonephric duct development (GO:0061205)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cortisol biosynthetic process (GO:2000066)|positive regulation of dermatome development (GO:0061184)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of meiosis (GO:0045836)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|protein palmitoylation (GO:0018345)|regulation of cell-cell adhesion (GO:0022407)|renal vesicle formation (GO:0072033)|renal vesicle induction (GO:0072034)|smooth muscle cell differentiation (GO:0051145)|somatotropin secreting cell differentiation (GO:0060126)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		GCTCCCCACCGACGACAGCTT	0.627																																						ENST00000290167.6																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8						c.(97-99)tCg>tTg		wingless-type MMTV integration site family, member 4							145.0	140.0	141.0					1																	22456324		2203	4300	6503	SO:0001583	missense	54361				adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|extracellular space|Golgi apparatus|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity	g.chr1:22456324G>A	AL031281	CCDS223.1	1p36.23-p35.1	2013-02-28			ENSG00000162552	ENSG00000162552		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12783	protein-coding gene	gene with protein product		603490				8168088	Standard	NM_030761		Approved	WNT-4	uc001bfs.4	P56705	OTTHUMG00000002894	ENST00000290167.6:c.98C>T	1.37:g.22456324G>A	ENSP00000290167:p.Ser33Leu					WNT4_ENST00000542383.1_5'UTR	p.S33L	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	2	141	-		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	33					B4DJF9|Q5TZQ0|Q96T81|Q9BXF5|Q9H1J8|Q9UJM2	Missense_Mutation	SNP	ENST00000290167.6	37	c.98C>T	CCDS223.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821611	0.90873	.	.	ENSG00000162552	ENST00000290167;ENST00000374655	T	0.77358	-1.09	5.22	5.22	0.72569	.	0.751807	0.12807	N	0.437493	T	0.73682	0.3618	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	P	0.54499	0.754	T	0.77723	-0.2481	10	0.56958	D	0.05	.	17.3419	0.87299	0.0:0.0:1.0:0.0	.	33	P56705	WNT4_HUMAN	L	33	ENSP00000290167:S33L	ENSP00000290167:S33L	S	-	2	0	WNT4	22328911	1.000000	0.71417	0.141000	0.22245	0.750000	0.42670	7.676000	0.84012	2.429000	0.82318	0.561000	0.74099	TCG		0.627	WNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008088.2			40	174	0	0	0	1	0	40	174				
STAT1	6772	broad.mit.edu	37	2	191848434	191848434	+	Missense_Mutation	SNP	G	G	C	rs150942324		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr2:191848434G>C	ENST00000361099.3	-	17	1767	c.1380C>G	c.(1378-1380)aaC>aaG	p.N460K	STAT1_ENST00000392322.3_Missense_Mutation_p.N460K|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Missense_Mutation_p.N460K|STAT1_ENST00000392323.2_Missense_Mutation_p.N462K	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	460					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)			GCTGGCTGACGTTGGAGATCA	0.507																																						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.(1378-1380)aaC>aaG		signal transducer and activator of transcription 1, 91kDa	Fludarabine(DB01073)						100.0	94.0	96.0					2																	191848434		2203	4300	6503	SO:0001583	missense	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.chr2:191848434G>C		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.1380C>G	2.37:g.191848434G>C	ENSP00000354394:p.Asn460Lys					STAT1_ENST00000392322.3_Missense_Mutation_p.N460K|STAT1_ENST00000392323.2_Missense_Mutation_p.N462K|STAT1_ENST00000409465.1_Missense_Mutation_p.N460K|STAT1_ENST00000540176.1_3'UTR	p.N460K	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)		17	1767	-			460					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	ENST00000361099.3	37	c.1380C>G	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637962	0.67130	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323	D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4	5.19	-1.5	0.08691	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.080973	0.85682	D	0.000000	D	0.93400	0.7895	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.81914	0.917;0.995	D	0.92136	0.5716	10	0.87932	D	0	-39.885	12.0885	0.53710	0.5642:0.0:0.4358:0.0	.	460;460	P42224-2;P42224	.;STAT1_HUMAN	K	460;460;460;462	ENSP00000354394:N460K;ENSP00000386244:N460K;ENSP00000376136:N460K;ENSP00000376137:N462K	ENSP00000354394:N460K	N	-	3	2	STAT1	191556679	0.002000	0.14202	0.984000	0.44739	0.971000	0.66376	-1.409000	0.02483	-0.393000	0.07739	-0.140000	0.14226	AAC		0.507	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		21	122	0	0	0	1	0	21	122				
TPTE2P6	374491	broad.mit.edu	37	13	25161397	25161397	+	RNA	SNP	C	C	G	rs3874227	byFrequency	TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr13:25161397C>G	ENST00000453498.1	+	0	921				TPTE2P6_ENST00000440905.1_RNA																							TGAAACATCTCTACAACTGGA	0.343																																						ENST00000453498.1																			0																																																			0							g.chr13:25161397C>G																													13.37:g.25161397C>G														0	921	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.343	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			4	36	0	0	0	1	0	4	36				
RAET1E	135250	broad.mit.edu	37	6	150210552	150210552	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr6:150210552G>T	ENST00000357183.4	-	3	686	c.554C>A	c.(553-555)tCa>tAa	p.S185*	RAET1E_ENST00000529948.1_Nonsense_Mutation_p.S185*|RAET1E-AS1_ENST00000605899.1_RNA|RAET1E_ENST00000532335.1_Nonsense_Mutation_p.S185*|RAET1E-AS1_ENST00000446954.2_RNA|RAET1E_ENST00000367363.3_Nonsense_Mutation_p.S149*|RP11-244K5.8_ENST00000606915.1_RNA	NM_139165.2	NP_631904.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	185	MHC class I alpha-2 like.				antigen processing and presentation (GO:0019882)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		GTCTCCCTTTGAGAGCTTCCT	0.493																																						ENST00000532335.1																			0				cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10						c.(553-555)tCa>tAa		retinoic acid early transcript 1E							140.0	133.0	135.0					6																	150210552		2203	4300	6503	SO:0001587	stop_gained	135250				antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding	g.chr6:150210552G>T	AF359243	CCDS5221.1, CCDS59042.1, CCDS59043.1, CCDS59044.1	6q24.3	2011-02-09			ENSG00000164520	ENSG00000164520			16793	protein-coding gene	gene with protein product		609243				11827464	Standard	NM_139165		Approved	LETAL, bA350J20.7, ULBP4	uc003qnl.1	Q8TD07	OTTHUMG00000015796	ENST00000357183.4:c.554C>A	6.37:g.150210552G>T	ENSP00000349709:p.Ser185*					RAET1E_ENST00000367363.3_Nonsense_Mutation_p.S149*|RAET1E_ENST00000357183.4_Nonsense_Mutation_p.S185*|RAET1E_ENST00000529948.1_Nonsense_Mutation_p.S185*|RP11-244K5.1_ENST00000605899.1_RNA|RP11-244K5.8_ENST00000606915.1_RNA	p.S185*	NM_001243328.1	NP_001230257.1	Q8TD07	N2DL4_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)	4	900	-		Ovarian(120;0.0907)	185			MHC class I alpha-2 like.		A6YF59|Q5VYB7|Q5VYB8|Q8TEZ2|Q96L41	Nonsense_Mutation	SNP	ENST00000357183.4	37	c.554C>A	CCDS5221.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.997759	0.35226	.	.	ENSG00000164520	ENST00000532335;ENST00000357183;ENST00000367363;ENST00000529948	.	.	.	3.81	2.94	0.34122	.	0.794643	0.10697	N	0.644518	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.2001	7.7309	0.28786	0.115:0.0:0.885:0.0	.	.	.	.	X	185;185;149;185	.	ENSP00000349709:S185X	S	-	2	0	RAET1E	150252245	0.001000	0.12720	0.004000	0.12327	0.004000	0.04260	0.922000	0.28734	1.190000	0.43042	0.585000	0.79938	TCA		0.493	RAET1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042659.1	NM_139165		43	45	1	0	1.8453e-21	1	2.12527e-21	43	45				
SENP1	29843	broad.mit.edu	37	12	48468234	48468234	+	Silent	SNP	G	G	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr12:48468234G>T	ENST00000004980.5	-	8	1291	c.813C>A	c.(811-813)tcC>tcA	p.S271S	SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000448372.1_Silent_p.S271S|SENP1_ENST00000549518.1_Silent_p.S271S|SENP1_ENST00000549595.1_Silent_p.S271S|SENP1_ENST00000551330.1_Silent_p.S271S			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	271					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929)			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				AAGAAGATAGGGAATATACAC	0.433																																						ENST00000004980.5																			0				large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7						c.(811-813)tcC>tcA		SUMO1/sentrin specific peptidase 1							141.0	133.0	136.0					12																	48468234		1919	4137	6056	SO:0001819	synonymous_variant	29843				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity	g.chr12:48468234G>T	AF149770	CCDS44868.1, CCDS44868.2	12q13.1	2008-02-05	2005-08-17			ENSG00000079387			17927	protein-coding gene	gene with protein product		612157	"""SUMO1/sentrin specific protease 1"""			10652325, 14563852	Standard	NM_001267595		Approved		uc009zkx.4	Q9P0U3	OTTHUMG00000169896	ENST00000004980.5:c.813C>A	12.37:g.48468234G>T						SENP1_ENST00000549595.1_Silent_p.S271S|SENP1_ENST00000551330.1_Silent_p.S271S|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000448372.1_Silent_p.S271S|SENP1_ENST00000549518.1_Silent_p.S271S	p.S271S			Q9P0U3	SENP1_HUMAN			8	1291	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	271					A8K7P5|Q86XC8	Silent	SNP	ENST00000004980.5	37	c.813C>A	CCDS44868.2																																																																																				0.433	SENP1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406471.1	NM_014554		21	125	1	0	3.51602e-12	1	3.9145e-12	21	125				
CACNA2D1	781	broad.mit.edu	37	7	81591249	81591249	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr7:81591249T>C	ENST00000356253.5	-	36	3218	c.2963A>G	c.(2962-2964)aAa>aGa	p.K988R	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.K976R|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.K188R			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	988					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	ACTGAATGATTTACTGTCGTT	0.388																																						ENST00000356860.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(2926-2928)aAa>aGa		calcium channel, voltage-dependent, alpha 2/delta subunit 1	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						126.0	115.0	119.0					7																	81591249		2203	4300	6503	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81591249T>C	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2963A>G	7.37:g.81591249T>C	ENSP00000348589:p.Lys988Arg					CACNA2D1_ENST00000535308.1_Missense_Mutation_p.K188R|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.K988R	p.K976R	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN			36	3265	-			988					Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.2927A>G		.	.	.	.	.	.	.	.	.	.	T	11.68	1.711702	0.30322	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000535308	T;T;T	0.69806	-0.43;-0.43;-0.43	5.19	5.19	0.71726	.	0.097959	0.64402	D	0.000001	T	0.49457	0.1558	N	0.22421	0.69	0.25631	N	0.986304	B;B	0.20261	0.043;0.007	B;B	0.18871	0.023;0.011	T	0.32929	-0.9888	10	0.25106	T	0.35	-27.0485	9.8558	0.41084	0.0:0.0773:0.0:0.9227	.	188;976	B7Z658;P54289-2	.;.	R	976;995;988;188	ENSP00000349320:K976R;ENSP00000348589:K988R;ENSP00000443124:K188R	ENSP00000284088:K995R	K	-	2	0	CACNA2D1	81429185	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.247000	0.43151	2.093000	0.63338	0.529000	0.55759	AAA		0.388	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				4	65	0	0	0	1	0	4	65				
TACC2	10579	broad.mit.edu	37	10	123844255	123844255	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr10:123844255T>C	ENST00000369005.1	+	4	2580	c.2240T>C	c.(2239-2241)aTg>aCg	p.M747T	TACC2_ENST00000515273.1_Missense_Mutation_p.M747T|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.M747T|TACC2_ENST00000453444.2_Missense_Mutation_p.M747T|TACC2_ENST00000515603.1_Missense_Mutation_p.M747T	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	747					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ATAAGGAAGATGGGCAGCTGT	0.542																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(2239-2241)aTg>aCg		transforming, acidic coiled-coil containing protein 2							68.0	79.0	76.0					10																	123844255		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123844255T>C	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.2240T>C	10.37:g.123844255T>C	ENSP00000358001:p.Met747Thr					TACC2_ENST00000515603.1_Missense_Mutation_p.M747T|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.M747T|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.M747T|TACC2_ENST00000334433.3_Missense_Mutation_p.M747T	p.M747T	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	2580	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	747					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.2240T>C	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.844237	0.00568	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.02863	4.14;4.13;4.13;4.14;4.13	4.41	0.0721	0.14385	.	2.793500	0.01583	N	0.021176	T	0.02267	0.0070	N	0.14661	0.345	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	T	0.43310	-0.9399	10	0.32370	T	0.25	.	3.978	0.09483	0.0:0.3747:0.1833:0.442	.	747;747;747	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	T	747;747;747;747;747;737	ENSP00000358001:M747T;ENSP00000424467:M747T;ENSP00000427618:M747T;ENSP00000334280:M747T;ENSP00000395048:M747T	ENSP00000334280:M747T	M	+	2	0	TACC2	123834245	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	0.224000	0.17738	0.006000	0.14734	-0.366000	0.07423	ATG		0.542	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			25	156	0	0	0	1	0	25	156				
NOVA2	4858	broad.mit.edu	37	19	46443289	46443289	+	Silent	SNP	G	G	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr19:46443289G>T	ENST00000263257.5	-	4	1505	c.1311C>A	c.(1309-1311)ggC>ggA	p.G437G		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	437	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				regulation of RNA metabolic process (GO:0051252)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G437G(1)		endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		GGATGCGAGCGCCCGTCAGCT	0.662																																						ENST00000263257.5																			1	Substitution - coding silent(1)	p.G437G(1)	lung(1)	endometrium(3)|large_intestine(5)|lung(13)	21						c.(1309-1311)ggC>ggA		neuro-oncological ventral antigen 2							106.0	109.0	108.0					19																	46443289		2203	4300	6503	SO:0001819	synonymous_variant	4858					nucleus	RNA binding	g.chr19:46443289G>T	U70477	CCDS12679.1	19q13.3	2008-07-17				ENSG00000104967			7887	protein-coding gene	gene with protein product	"""neuro-oncological ventral antigen 3"""	601991		NOVA3		9344654, 10368286	Standard	NM_002516		Approved	ANOVA	uc002pdv.2	Q9UNW9		ENST00000263257.5:c.1311C>A	19.37:g.46443289G>T							p.G437G	NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)	4	1505	-		all_neural(266;0.113)|Ovarian(192;0.127)	437			KH 3.		O43267|Q9UEA1	Silent	SNP	ENST00000263257.5	37	c.1311C>A	CCDS12679.1																																																																																				0.662	NOVA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437210.2	NM_002516		41	159	1	0	3.76604e-16	1	4.27842e-16	41	159				
C9orf84	158401	broad.mit.edu	37	9	114467555	114467555	+	Missense_Mutation	SNP	G	G	A	rs561422391	byFrequency	TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr9:114467555G>A	ENST00000318737.4	-	19	2763	c.2635C>T	c.(2635-2637)Cca>Tca	p.P879S	C9orf84_ENST00000394777.4_Missense_Mutation_p.P805S|C9orf84_ENST00000394779.3_Missense_Mutation_p.P840S|C9orf84_ENST00000374287.3_Missense_Mutation_p.P879S	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	879										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AGTATGTCTGGAGTATTAAGA	0.338																																						ENST00000394779.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(2518-2520)Cca>Tca		chromosome 9 open reading frame 84							55.0	61.0	59.0					9																	114467555		2203	4297	6500	SO:0001583	missense	158401							g.chr9:114467555G>A	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.2635C>T	9.37:g.114467555G>A	ENSP00000322108:p.Pro879Ser					C9orf84_ENST00000394777.4_Missense_Mutation_p.P805S|C9orf84_ENST00000318737.4_Missense_Mutation_p.P879S|C9orf84_ENST00000374287.3_Missense_Mutation_p.P879S	p.P840S	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN			17	2762	-			879					A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	c.2518C>T	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	G	17.17	3.322479	0.60634	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	T;T;T;T	0.04809	3.55;3.59;3.56;3.56	4.74	3.81	0.43845	.	0.176108	0.27437	N	0.019365	T	0.11836	0.0288	L	0.34521	1.04	0.34444	D	0.699916	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.91635	0.941;0.999;0.998	T	0.16660	-1.0395	10	0.40728	T	0.16	-6.2124	11.9402	0.52896	0.0:0.0:0.8257:0.1743	.	805;879;840	A6PVK7;Q5VXU9;A2A2V3	.;CI084_HUMAN;.	S	840;805;493;879;879	ENSP00000378259:P840S;ENSP00000378257:P805S;ENSP00000363405:P879S;ENSP00000322108:P879S	ENSP00000322108:P879S	P	-	1	0	C9orf84	113507376	1.000000	0.71417	0.998000	0.56505	0.915000	0.54546	3.325000	0.52030	0.903000	0.36546	0.650000	0.86243	CCA		0.338	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521		7	41	0	0	0	1	0	7	41				
MUC17	140453	broad.mit.edu	37	7	100683137	100683137	+	Missense_Mutation	SNP	A	A	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr7:100683137A>T	ENST00000306151.4	+	3	8504	c.8440A>T	c.(8440-8442)Agt>Tgt	p.S2814C		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2814	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)					TCCATTAACTAGTATGCCTGT	0.498																																						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.(8440-8442)Agt>Tgt		mucin 17, cell surface associated							242.0	246.0	245.0					7																	100683137		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683137A>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.8440A>T	7.37:g.100683137A>T	ENSP00000302716:p.Ser2814Cys						p.S2814C	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	8504	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2814			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8440A>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	A	5.421	0.262807	0.10294	.	.	ENSG00000169876	ENST00000306151	T	0.02421	4.3	0.679	-1.36	0.09085	.	.	.	.	.	T	0.03434	0.0099	N	0.14661	0.345	0.09310	N	1	D	0.63046	0.992	P	0.60117	0.869	T	0.39014	-0.9634	9	0.56958	D	0.05	.	1.3865	0.02241	0.3981:0.0:0.2707:0.3311	.	2814	Q685J3	MUC17_HUMAN	C	2814	ENSP00000302716:S2814C	ENSP00000302716:S2814C	S	+	1	0	MUC17	100469857	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.056000	0.03489	-0.573000	0.05998	0.113000	0.15668	AGT		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		137	520	0	0	0	1	0	137	520				
LEFTY1	10637	broad.mit.edu	37	1	226075635	226075635	+	Silent	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:226075635G>A	ENST00000272134.5	-	2	427	c.348C>T	c.(346-348)gcC>gcT	p.A116A	RP4-559A3.7_ENST00000432920.2_Missense_Mutation_p.R225C|LEFTY1_ENST00000492457.1_5'UTR	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN	left-right determination factor 1	116					cell growth (GO:0016049)|determination of left/right symmetry (GO:0007368)|heart morphogenesis (GO:0003007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					GCCGCAGCACGGCCTGCACCA	0.736																																						ENST00000432920.2																			0											c.(673-675)Cgt>Tgt									2.0	4.0	3.0					1																	226075635		1433	3298	4731	SO:0001819	synonymous_variant	0							g.chr1:226075635G>A	AF081507	CCDS1548.1	1q42.1	2008-02-05	2004-11-17	2004-11-17	ENSG00000243709	ENSG00000243709			6552	protein-coding gene	gene with protein product		603037	"""left-right determination, factor B"""	LEFTB		10053005, 10886363	Standard	NM_020997		Approved	LEFTYB	uc001hpo.3	O75610	OTTHUMG00000037443	ENST00000272134.5:c.348C>T	1.37:g.226075635G>A						LEFTY1_ENST00000272134.5_Silent_p.A116A|LEFTY1_ENST00000492457.1_5'UTR	p.R225C							6	840	-								B2R7U0|Q53H67|Q5TE94	Missense_Mutation	SNP	ENST00000272134.5	37	c.673C>T	CCDS1548.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.943517	0.34283	.	.	ENSG00000255835	ENST00000432920	T	0.80214	-1.35	3.47	-2.13	0.07144	.	.	.	.	.	T	0.68201	0.2975	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.54833	-0.8234	8	0.87932	D	0	.	4.9625	0.14074	0.5283:0.1586:0.3131:0.0	.	225	E7EUD8	.	C	225	ENSP00000414068:R225C	ENSP00000414068:R225C	R	-	1	0	RP4-559A3.7	224142258	0.027000	0.19231	0.980000	0.43619	0.476000	0.33039	-1.283000	0.02796	-0.386000	0.07821	0.313000	0.20887	CGT		0.736	LEFTY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091155.1	NM_020997		3	11	0	0	0	1	0	3	11				
CREBBP	1387	broad.mit.edu	37	16	3820578	3820578	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr16:3820578C>T	ENST00000262367.5	-	14	3682	c.2873G>A	c.(2872-2874)gGc>gAc	p.G958D	CREBBP_ENST00000382070.3_Missense_Mutation_p.G920D	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	958					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TACCGGTGTGCCAGGAGGCTG	0.577			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(2872-2874)gGc>gAc		CREB binding protein							135.0	164.0	154.0					16																	3820578		2197	4300	6497	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3820578C>T	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.2873G>A	16.37:g.3820578C>T	ENSP00000262367:p.Gly958Asp					CREBBP_ENST00000382070.3_Missense_Mutation_p.G920D	p.G958D	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	14	3682	-		Ovarian(90;0.0266)	958					D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.2873G>A	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.814066	0.50527	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.83163	-1.69;-1.6	5.87	5.87	0.94306	.	0.069282	0.64402	D	0.000012	T	0.79381	0.4436	L	0.48642	1.525	0.58432	D	0.999998	B;B	0.24483	0.104;0.104	B;B	0.30029	0.11;0.06	T	0.72050	-0.4407	10	0.14656	T	0.56	-15.7121	16.7906	0.85589	0.0:0.8715:0.1285:0.0	.	988;958	Q4LE28;Q92793	.;CBP_HUMAN	D	958;988;920	ENSP00000262367:G958D;ENSP00000371502:G920D	ENSP00000262367:G958D	G	-	2	0	CREBBP	3760579	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.125000	0.57931	2.941000	0.99782	0.655000	0.94253	GGC		0.577	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		5	297	0	0	0	1	0	5	297				
PDPR	55066	broad.mit.edu	37	16	70187451	70187451	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr16:70187451G>T	ENST00000288050.4	+	18	3167	c.2210G>T	c.(2209-2211)cGa>cTa	p.R737L	PDPR_ENST00000567046.1_Missense_Mutation_p.R95L|RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000568530.1_Missense_Mutation_p.R737L|PDPR_ENST00000398122.3_Missense_Mutation_p.R637L|PDPR_ENST00000562100.1_Intron|PDPR_ENST00000542659.1_Missense_Mutation_p.R82L	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	737					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		GAATGTGGACGAGAGTCTCGG	0.473																																						ENST00000288050.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33						c.(2209-2211)cGa>cTa		pyruvate dehydrogenase phosphatase regulatory subunit							64.0	67.0	66.0					16																	70187451		1916	4139	6055	SO:0001583	missense	55066				glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	g.chr16:70187451G>T		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.2210G>T	16.37:g.70187451G>T	ENSP00000288050:p.Arg737Leu					PDPR_ENST00000542659.1_Missense_Mutation_p.R82L|PDPR_ENST00000568530.1_Missense_Mutation_p.R737L|PDPR_ENST00000567046.1_Missense_Mutation_p.R95L|PDPR_ENST00000398122.3_Missense_Mutation_p.R637L|PDPR_ENST00000562100.1_Intron	p.R737L	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.124)	18	3167	+			737					A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	ENST00000288050.4	37	c.2210G>T	CCDS45520.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893381	0.72524	.	.	ENSG00000090857	ENST00000288050;ENST00000398122;ENST00000542659	T;T;T	0.78364	-1.17;-1.17;-1.17	6.04	6.04	0.98038	.	0.125624	0.56097	D	0.000031	T	0.63698	0.2533	N	0.17082	0.46	0.80722	D	1	B	0.11235	0.004	B	0.17722	0.019	T	0.60326	-0.7285	10	0.02654	T	1	.	19.5674	0.95401	0.0:0.0:1.0:0.0	.	737	Q8NCN5	PDPR_HUMAN	L	737;637;82	ENSP00000288050:R737L;ENSP00000381190:R637L;ENSP00000441690:R82L	ENSP00000288050:R737L	R	+	2	0	PDPR	68744952	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.793000	0.99091	2.873000	0.98535	0.561000	0.74099	CGA		0.473	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		3	23	1	0	0.00909568	1	0.00920593	3	23				
PDGFRB	5159	broad.mit.edu	37	5	149503887	149503887	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr5:149503887G>A	ENST00000261799.4	-	14	2418	c.1949C>T	c.(1948-1950)tCg>tTg	p.S650L		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	650	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTTCAGCTCCGACATAAGGGC	0.637			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																	ENST00000261799.4				Dom	yes		5	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""			L	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""		"""MPD, AML, CMML, CML"""		0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75						c.(1948-1950)tCg>tTg		platelet-derived growth factor receptor, beta polypeptide	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						92.0	72.0	79.0					5																	149503887		2203	4300	6503	SO:0001583	missense	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149503887G>A	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.1949C>T	5.37:g.149503887G>A	ENSP00000261799:p.Ser650Leu						p.S650L	NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		14	2418	-		all_hematologic(541;0.224)	650			Protein kinase.		B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	37	c.1949C>T	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	G	35	5.590431	0.96590	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	D	0.83591	-1.74	5.18	5.18	0.71444	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45361	D	0.000363	D	0.89273	0.6668	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90297	0.4327	10	0.87932	D	0	.	18.685	0.91560	0.0:0.0:1.0:0.0	.	650;650	A8KAM8;P09619	.;PGFRB_HUMAN	L	650;320	ENSP00000261799:S650L	ENSP00000261799:S650L	S	-	2	0	PDGFRB	149484080	1.000000	0.71417	0.968000	0.41197	0.953000	0.61014	7.876000	0.87215	2.397000	0.81536	0.462000	0.41574	TCG		0.637	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		18	59	0	0	0	1	0	18	59				
PCLO	27445	broad.mit.edu	37	7	82784272	82784272	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr7:82784272C>G	ENST00000333891.9	-	2	2022	c.1685G>C	c.(1684-1686)gGa>gCa	p.G562A	PCLO_ENST00000423517.2_Missense_Mutation_p.G562A	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTTCCAGATCCTGTTTGGCT	0.522																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(1684-1686)gGa>gCa		piccolo presynaptic cytomatrix protein							313.0	312.0	313.0					7																	82784272		1990	4170	6160	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82784272C>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.1685G>C	7.37:g.82784272C>G	ENSP00000334319:p.Gly562Ala					PCLO_ENST00000333891.8_Missense_Mutation_p.G562A	p.G562A	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			2	2022	-			508			Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.1685G>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	5.542	0.284918	0.10513	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17213	2.29;2.29	5.6	0.948	0.19561	.	.	.	.	.	T	0.09247	0.0228	N	0.24115	0.695	0.22779	N	0.998742	B;B	0.10296	0.003;0.003	B;B	0.09377	0.003;0.004	T	0.35943	-0.9768	9	0.87932	D	0	.	0.2159	0.00162	0.2444:0.2805:0.1548:0.3202	.	562;562	Q9Y6V0-5;Q9Y6V0-6	.;.	A	508;562;562	ENSP00000334319:G562A;ENSP00000388393:G562A	ENSP00000334319:G562A	G	-	2	0	PCLO	82622208	0.027000	0.19231	0.808000	0.32385	0.065000	0.16274	0.204000	0.17335	0.625000	0.30304	0.650000	0.86243	GGA		0.522	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		22	456	0	0	0	1	0	22	456				
VPS72	6944	broad.mit.edu	37	1	151156886	151156886	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:151156886G>C	ENST00000354473.4	-	4	505	c.469C>G	c.(469-471)Cgg>Ggg	p.R157G	VPS72_ENST00000496809.1_5'UTR			Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	157					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCCTTTCGCCGTCTTGACTGG	0.557																																					Pancreas(109;1131 2287 3209 24201)	ENST00000354473.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(469-471)Cgg>Ggg		vacuolar protein sorting 72 homolog (S. cerevisiae)							90.0	93.0	92.0					1																	151156886		2203	4300	6503	SO:0001583	missense	6944				chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:151156886G>C	D43642	CCDS989.1, CCDS59201.1	1q21	2008-02-05	2006-12-19	2005-09-08	ENSG00000163159	ENSG00000163159			11644	protein-coding gene	gene with protein product		600607	"""transcription factor-like 1"", ""vacuolar protein sorting 72 (yeast)"""	TCFL1		7702631	Standard	NM_001271087		Approved	YL-1, YL1, Swc2	uc001exe.2	Q15906	OTTHUMG00000012345	ENST00000354473.4:c.469C>G	1.37:g.151156886G>C	ENSP00000346464:p.Arg157Gly					VPS72_ENST00000496809.1_5'UTR	p.R157G	NM_001271087.1|NM_005997.1	NP_001258016.1|NP_005988.1	Q15906	VPS72_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		4	505	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		157					A6NLK9|A6PW55|Q53GJ2|Q5U0R4	Missense_Mutation	SNP	ENST00000354473.4	37	c.469C>G	CCDS59201.1	.	.	.	.	.	.	.	.	.	.	.	13.71	2.319782	0.41096	.	.	ENSG00000163159	ENST00000368892;ENST00000354473	.	.	.	6.16	0.615	0.17608	.	0.000000	0.85682	D	0.000000	T	0.43656	0.1257	M	0.74647	2.275	0.58432	D	0.999996	B	0.15719	0.014	B	0.15484	0.013	T	0.44651	-0.9314	9	0.38643	T	0.18	-1.3249	12.438	0.55610	0.0:0.1054:0.3303:0.5643	.	157	Q15906	VPS72_HUMAN	G	157	.	ENSP00000346464:R157G	R	-	1	2	VPS72	149423510	1.000000	0.71417	0.966000	0.40874	0.620000	0.37586	1.731000	0.38135	0.118000	0.18165	-0.188000	0.12872	CGG		0.557	VPS72-002	NOVEL	mRNA_start_NF|basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000034394.3	NM_005997		19	338	0	0	0	1	0	19	338				
ENPP6	133121	broad.mit.edu	37	4	185074851	185074851	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr4:185074851A>C	ENST00000296741.2	-	2	418	c.277T>G	c.(277-279)Tac>Gac	p.Y93D		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	93					choline metabolic process (GO:0019695)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glycerophosphocholine cholinephosphodiesterase activity (GO:0047390)|glycerophosphodiester phosphodiesterase activity (GO:0008889)|phosphoric diester hydrolase activity (GO:0008081)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		TCCCACATGTAGTTCCCGATC	0.473																																						ENST00000296741.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15						c.(277-279)Tac>Gac		ectonucleotide pyrophosphatase/phosphodiesterase 6							137.0	123.0	128.0					4																	185074851		2203	4300	6503	SO:0001583	missense	133121				lipid catabolic process	extracellular region|integral to membrane|plasma membrane		g.chr4:185074851A>C	AK057370	CCDS3834.1	4q35.1	2008-02-05			ENSG00000164303	ENSG00000164303			23409	protein-coding gene	gene with protein product							Standard	NM_153343		Approved	MGC33971	uc003iwc.3	Q6UWR7	OTTHUMG00000160617	ENST00000296741.2:c.277T>G	4.37:g.185074851A>C	ENSP00000296741:p.Tyr93Asp						p.Y93D	NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)	2	418	-		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	93					Q4W5Q1|Q96M57	Missense_Mutation	SNP	ENST00000296741.2	37	c.277T>G	CCDS3834.1	.	.	.	.	.	.	.	.	.	.	A	17.77	3.470855	0.63625	.	.	ENSG00000164303	ENST00000296741;ENST00000512353	T;T	0.71341	-0.56;-0.56	5.44	3.01	0.34805	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.109909	0.64402	D	0.000004	T	0.71525	0.3350	L	0.37750	1.13	0.58432	D	0.99999	D	0.76494	0.999	D	0.70935	0.971	T	0.64411	-0.6414	10	0.13853	T	0.58	-16.5322	9.7427	0.40429	0.8626:0.0:0.1374:0.0	.	93	Q6UWR7	ENPP6_HUMAN	D	93;5	ENSP00000296741:Y93D;ENSP00000423497:Y5D	ENSP00000296741:Y93D	Y	-	1	0	ENPP6	185311845	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.174000	0.77620	0.385000	0.24970	-0.899000	0.02877	TAC		0.473	ENPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361428.1	NM_153343		10	35	0	0	0	1	0	10	35				
PPP2R1A	5518	broad.mit.edu	37	19	52716323	52716323	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr19:52716323C>T	ENST00000322088.6	+	6	825	c.767C>T	c.(766-768)tCc>tTc	p.S256F	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.S201F|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.S77F	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	256	PP2A subunit B binding.|Polyoma small and medium T antigens 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)	p.S256F(11)|p.S256Y(5)		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)		GAAGACAAGTCCTGGCGCGTC	0.617			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		16	Substitution - Missense(16)	p.S256F(11)|p.S256Y(5)	endometrium(15)|ovary(1)	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.(766-768)tCc>tTc		protein phosphatase 2, regulatory subunit A, alpha							43.0	39.0	41.0					19																	52716323		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.chr19:52716323C>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.767C>T	19.37:g.52716323C>T	ENSP00000324804:p.Ser256Phe					PPP2R1A_ENST00000462990.1_Missense_Mutation_p.S77F|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.S201F	p.S256F	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	6	825	+			256			PP2A subunit B binding.|Polyoma small and medium T antigens Binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.767C>T	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643837	0.87859	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.37058	1.22;1.22	4.48	4.48	0.54585	Armadillo-like helical (1);Armadillo-type fold (1);	0.105490	0.41001	D	0.000967	T	0.69753	0.3146	H	0.94542	3.55	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.998	T	0.79401	-0.1819	10	0.87932	D	0	-23.4629	15.0763	0.72080	0.0:1.0:0.0:0.0	.	201;256;256	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	F	246;176;256;201	ENSP00000324804:S256F;ENSP00000415067:S201F	ENSP00000324804:S256F	S	+	2	0	PPP2R1A	57408135	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.017000	0.64047	2.490000	0.84030	0.655000	0.94253	TCC		0.617	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		13	38	0	0	0	1	0	13	38				
ADAM30	11085	broad.mit.edu	37	1	120438214	120438234	+	In_Frame_Del	DEL	TGTATCCTCATACGAACATCT	TGTATCCTCATACGAACATCT	-	rs371890150		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:120438214_120438234delTGTATCCTCATACGAACATCT	ENST00000369400.1	-	1	884_904	c.726_746delAGATGTTCGTATGAGGATACA	c.(724-747)caagatgttcgtatgaggatacac>cac	p.QDVRMRI242del		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	242	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AGCCTTTAAGTGTATCCTCATACGAACATCTTGAAAGTAGG	0.344																																						ENST00000369400.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38						c.(724-747)cac>ca		ADAM metallopeptidase domain 30																																				SO:0001651	inframe_deletion	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120438214_120438234delTGTATCCTCATACGAACATCT	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.726_746delAGATGTTCGTATGAGGATACA	1.37:g.120438214_120438234delTGTATCCTCATACGAACATCT	ENSP00000358407:p.Gln242_Ile248del						p.QDVRMRIH242del	NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	1	884_904	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	242			Peptidase M12B.		A8K8W8|Q5T3X6|Q9UKF1	In_Frame_Del	DEL	ENST00000369400.1	37	c.726_746delAGATGTTCGTATGAGGATACA	CCDS907.1																																																																																				0.344	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		7	46						7	46	---	---	---	---
LOC101927209	101927209	broad.mit.edu	37	1	142635348	142635349	+	lincRNA	DEL	CC	CC	-	rs67243162|rs531938973|rs141313495	byFrequency	TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:142635348_142635349delCC	ENST00000610091.1	-	0	5185_5186				RP11-417J8.3_ENST00000426408.1_lincRNA																							gggtggggctcccccccccgtt	0.653														2313	0.461861	0.3911	0.4914	5008	,	,		26860	0.4821		0.5239	False		,,,				2504	0.4519					ENST00000369381.2																			0																																																			0							g.chr1:142635348_142635349delCC																													1.37:g.142635354_142635355delCC						RP11-417J8.3_ENST00000426408.1_lincRNA								0	4132_4133	-									RNA	DEL	ENST00000610091.1	37																																																																																						0.653	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			5	4						5	4	---	---	---	---
SRGAP2B	647135	broad.mit.edu	37	1	144011657	144011658	+	RNA	INS	-	-	G	rs66670828|rs11459943	byFrequency	TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:144011657_144011658insG	ENST00000467933.1	+	0	915							P0DMP2	SRG2B_HUMAN	SLIT-ROBO Rho GTPase activating protein 2B						nervous system development (GO:0007399)												GGttcttttttttgttgtttgt	0.52													|||unknown(STR3?)	2483	0.495807	0.4962	0.4986	5008	,	,		53201	0.497		0.494	False		,,,				2504	0.4939					ENST00000467933.1																			0																																																			0							g.chr1:144011657_144011658insG		CCDS72854.1	1q21.1	2014-07-10	2013-02-13	2012-05-08	ENSG00000196369	ENSG00000196369			35237	protein-coding gene	gene with protein product		614703	"""SLIT-ROBO Rho GTPase activating protein 2 pseudogene 2"", ""SLIT-ROBO Rho GTPase activating protein 2B (pseudogene)"""	SRGAP2P2		22559943, 22559944	Standard	NM_001271870		Approved		uc010oxm.1	P0DMP2	OTTHUMG00000041442		1.37:g.144011657_144011658insG														0	915	+									RNA	INS	ENST00000467933.1	37																																																																																						0.520	SRGAP2B-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352915.1	NM_001271870		3	5						3	5	---	---	---	---
SRGAP2B	647135	broad.mit.edu	37	1	144012010	144012010	+	RNA	DEL	C	C	-			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:144012010delC	ENST00000467933.1	+	0	915							P0DMP2	SRG2B_HUMAN	SLIT-ROBO Rho GTPase activating protein 2B						nervous system development (GO:0007399)												ATTCTGAATGCCCTCTCAATG	0.453																																						ENST00000467933.1																			0																																																			0							g.chr1:144012010delC		CCDS72854.1	1q21.1	2014-07-10	2013-02-13	2012-05-08	ENSG00000196369	ENSG00000196369			35237	protein-coding gene	gene with protein product		614703	"""SLIT-ROBO Rho GTPase activating protein 2 pseudogene 2"", ""SLIT-ROBO Rho GTPase activating protein 2B (pseudogene)"""	SRGAP2P2		22559943, 22559944	Standard	NM_001271870		Approved		uc010oxm.1	P0DMP2	OTTHUMG00000041442		1.37:g.144012010delC														0	915	+									RNA	DEL	ENST00000467933.1	37																																																																																						0.453	SRGAP2B-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352915.1	NM_001271870		2	4						2	4	---	---	---	---
SRGAP2B	647135	broad.mit.edu	37	1	144045995	144045996	+	RNA	INS	-	-	CC	rs147099033|rs377194888	byFrequency	TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:144045995_144045996insCC	ENST00000467933.1	+	0	1108							P0DMP2	SRG2B_HUMAN	SLIT-ROBO Rho GTPase activating protein 2B						nervous system development (GO:0007399)												AAAGGGAAGGTCCCAGGTCTAC	0.455														2422	0.483626	0.4924	0.4769	5008	,	,		31714	0.4752		0.4821	False		,,,				2504	0.4867					ENST00000467933.1																			0																																																			0							g.chr1:144045995_144045996insCC		CCDS72854.1	1q21.1	2014-07-10	2013-02-13	2012-05-08	ENSG00000196369	ENSG00000196369			35237	protein-coding gene	gene with protein product		614703	"""SLIT-ROBO Rho GTPase activating protein 2 pseudogene 2"", ""SLIT-ROBO Rho GTPase activating protein 2B (pseudogene)"""	SRGAP2P2		22559943, 22559944	Standard	NM_001271870		Approved		uc010oxm.1	P0DMP2	OTTHUMG00000041442		1.37:g.144045996_144045997dupCC														0	1108	+									RNA	INS	ENST00000467933.1	37																																																																																						0.455	SRGAP2B-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352915.1	NM_001271870		3	6						3	6	---	---	---	---
GPR52	9293	broad.mit.edu	37	1	174417869	174417872	+	Frame_Shift_Del	DEL	TTGT	TTGT	-			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:174417869_174417872delTTGT	ENST00000367685.2	+	1	658_661	c.620_623delTTGT	c.(619-624)attgttfs	p.IV207fs	RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000251507.4_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	207					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						ACTGGCTTTATTGTTTGTTTACTT	0.431																																					Ovarian(92;924 1390 1930 16467 40583)	ENST00000367685.2																			0				breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						c.(619-624)atfs		G protein-coupled receptor 52																																				SO:0001589	frameshift_variant	9293					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:174417869_174417872delTTGT	AF096784	CCDS30941.1	1q24	2012-08-21			ENSG00000203737	ENSG00000203737		"""GPCR / Class A : Orphans"""	4508	protein-coding gene	gene with protein product		604106				9931487	Standard	NM_005684		Approved		uc001gka.1	Q9Y2T5	OTTHUMG00000034901	ENST00000367685.2:c.620_623delTTGT	1.37:g.174417873_174417876delTTGT	ENSP00000356658:p.Ile207fs					RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000251507.4_Intron	p.IV207fs	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN			1	658_661	+			207					O75654|Q4VBL6|Q6ISM0	Frame_Shift_Del	DEL	ENST00000367685.2	37	c.620_623delTTGT	CCDS30941.1																																																																																				0.431	GPR52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084511.1	NM_005684		33	242						33	242	---	---	---	---
LINC00272	388719	broad.mit.edu	37	1	182382618	182382619	+	lincRNA	INS	-	-	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:182382618_182382619insT	ENST00000367563.3	+	0	610					NR_034131.1				long intergenic non-protein coding RNA 272																		CCTCTGCCCTATTTTTACCTGT	0.431																																						ENST00000367563.3																			0																																																			0							g.chr1:182382618_182382619insT	AF508909		1q25.3	2012-10-12	2011-08-11	2011-08-11	ENSG00000203729	ENSG00000203729		"""Long non-coding RNAs"""	26898	non-coding RNA	RNA, long non-coding			"""chromosome 1 open reading frame 120"", ""non-protein coding RNA 272"""	C1orf120, NCRNA00272		12801632	Standard	NR_034131		Approved	RP1-223H12.3	uc009wxv.1		OTTHUMG00000037402		1.37:g.182382623_182382623dupT								NR_034131.1						0	610	+									RNA	INS	ENST00000367563.3	37																																																																																						0.431	LINC00272-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000091036.2	NM_001010899		2	4						2	4	---	---	---	---
ATP6V1C2	245973	broad.mit.edu	37	2	10917819	10917820	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr2:10917819_10917820delAG	ENST00000272238.4	+	11	1043_1044	c.934_935delAG	c.(934-936)agafs	p.R312fs	ATP6V1C2_ENST00000381661.3_Intron	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	312					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GCAGACCGACAGAGAGAGAGAG	0.604																																					NSCLC(188;1042 2136 10807 16813 47705)	ENST00000272238.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(934-936)afs		ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2																																				SO:0001589	frameshift_variant	245973				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		g.chr2:10917819_10917820delAG	AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"""ATPases / V-type"""	18264	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"""			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.934_935delAG	2.37:g.10917829_10917830delAG	ENSP00000272238:p.Arg312fs					ATP6V1C2_ENST00000381661.3_Intron	p.R312fs	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN		Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)	11	1043_1044	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		312					Q96EL8	Frame_Shift_Del	DEL	ENST00000272238.4	37	c.934_935delAG	CCDS42653.1																																																																																				0.604	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323555.1	NM_144583		7	125						7	125	---	---	---	---
LOC100506797	100506797	broad.mit.edu	37	2	118922688	118922688	+	lincRNA	DEL	C	C	-			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr2:118922688delC	ENST00000414886.1	-	0	533																											gacggagctgccccagaccat	0.542																																						ENST00000414886.1																			0																																																			0							g.chr2:118922688delC																													2.37:g.118922688delC														0	533	-									RNA	DEL	ENST00000414886.1	37																																																																																						0.542	AC093901.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000331097.1			2	4						2	4	---	---	---	---
LINC01205	401082	broad.mit.edu	37	3	109191875	109191875	+	lincRNA	DEL	G	G	-	rs79296685|rs201178990|rs34917977	byFrequency	TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr3:109191875delG	ENST00000497996.1	+	0	424																											tcttttttttgtaaatagtca	0.328													-|G|-|insertion	3920	0.782748	0.7776	0.6873	5008	,	,		16649	0.9008		0.6958	False		,,,				2504	0.8252					ENST00000497996.1																			0																																																			0							g.chr3:109191875delG																													3.37:g.109191875delG														0	424	+									RNA	DEL	ENST00000497996.1	37																																																																																						0.328	RP11-702L6.4-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000353892.1			5	2						5	2	---	---	---	---
RP11-572M11.4	0	broad.mit.edu	37	3	112814651	112814651	+	RNA	DEL	A	A	-			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr3:112814651delA	ENST00000460707.1	+	0	390				RP11-572M11.4_ENST00000496389.1_RNA																							ACTTTTCCCTAAAATTATACG	0.348																																						ENST00000460707.1																			0																																																			0							g.chr3:112814651delA																													3.37:g.112814651delA						RP11-572M11.4_ENST00000496389.1_RNA								0	390	+									RNA	DEL	ENST00000460707.1	37																																																																																						0.348	RP11-572M11.4-006	KNOWN	basic	antisense	antisense	OTTHUMT00000354897.1			2	4						2	4	---	---	---	---
CPHL1P	389160	broad.mit.edu	37	3	148999032	148999033	+	RNA	INS	-	-	GAA	rs397825074|rs368617671|rs10639126	byFrequency	TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr3:148999032_148999033insGAA	ENST00000482639.2	-	0	195									ceruloplasmin and hephaestin-like 1 pseudogene																		GGGAAGACACTGAACAGtaaga	0.5														2398	0.478834	0.7988	0.549	5008	,	,		18763	0.37		0.339	False		,,,				2504	0.2526					ENST00000482639.2																			0																																																			0							g.chr3:148999032_148999033insGAA			3q25.1	2010-10-13	2010-10-13	2010-10-13	ENSG00000240216	ENSG00000240216			31714	pseudogene	pseudogene			"""ceruloplasmin and hephaestin-like 1"""	CPHL1			Standard	NG_022938		Approved				OTTHUMG00000159584		3.37:g.148999033_148999035dupGAA														0	195	-									RNA	INS	ENST00000482639.2	37																																																																																						0.500	CPHL1P-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000356325.2	NG_022938		5	4						5	4	---	---	---	---
RP11-430L16.1	0	broad.mit.edu	37	3	187825425	187825426	+	lincRNA	INS	-	-	A	rs79716584		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr3:187825425_187825426insA	ENST00000449845.1	+	0	241																											GAGGGGCGGTGAAAAAAAAAAG	0.495																																						ENST00000449845.1																			0																																																			0							g.chr3:187825425_187825426insA																													3.37:g.187825435_187825435dupA														0	241	+									RNA	INS	ENST00000449845.1	37																																																																																						0.495	RP11-430L16.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000344060.1			2	4						2	4	---	---	---	---
RP11-17E2.2	0	broad.mit.edu	37	4	22016414	22016414	+	RNA	DEL	A	A	-	rs34151417	byFrequency	TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr4:22016414delA	ENST00000510705.3	+	0	445																											TAATCATCCCAATGAGCATAA	0.348													A|AA|A|insertion	981	0.195887	0.0968	0.2104	5008	,	,		16946	0.1984		0.1998	False		,,,				2504	0.3129					ENST00000510705.3																			0																																																			0							g.chr4:22016414delA																													4.37:g.22016414delA														0	445	+									RNA	DEL	ENST00000510705.3	37																																																																																						0.348	RP11-17E2.2-001	KNOWN	not_organism_supported|basic	antisense	antisense	OTTHUMT00000367308.4			5	1						5	1	---	---	---	---
LOC100653061	100653061	broad.mit.edu	37	5	34182134	34182134	+	RNA	DEL	T	T	-	rs201992500		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr5:34182134delT	ENST00000514048.1	-	0	231																											ataaaaaggattttttttttt	0.512																																						ENST00000514048.1																			0																																																			0							g.chr5:34182134delT																													5.37:g.34182134delT														0	231	-									RNA	DEL	ENST00000514048.1	37																																																																																						0.512	RP11-1023L17.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000367775.1			6	12						6	12	---	---	---	---
RP11-348J24.2	0	broad.mit.edu	37	5	91710573	91710574	+	lincRNA	INS	-	-	C	rs142458376|rs554463689	byFrequency	TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr5:91710573_91710574insC	ENST00000502934.1	+	0	328																											aggtggagctgcctgccagtcc	0.658																																						ENST00000502934.1																			0																																																			0							g.chr5:91710573_91710574insC																													5.37:g.91710575_91710575dupC														0	328	+									RNA	INS	ENST00000502934.1	37																																																																																						0.658	RP11-348J24.2-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000369755.1			4	3						4	3	---	---	---	---
TDRD6	221400	broad.mit.edu	37	6	46660414	46660415	+	Frame_Shift_Ins	INS	-	-	A	rs145334816		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr6:46660414_46660415insA	ENST00000316081.6	+	1	4549_4550	c.4549_4550insA	c.(4549-4551)gaafs	p.E1517fs	TDRD6_ENST00000544460.1_Frame_Shift_Ins_p.E1517fs	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1517					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTATAATCCAGAAAAAAAAATG	0.351																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(4549-4551)aaafs		tudor domain containing 6																																				SO:0001589	frameshift_variant	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46660414_46660415insA	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4558dupA	6.37:g.46660423_46660423dupA	ENSP00000346065:p.Glu1517fs					TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.K1517fs	p.K1517fs	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	4803_4804	+			1517					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Frame_Shift_Ins	INS	ENST00000316081.6	37	c.4549_4550insA	CCDS34470.1																																																																																				0.351	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		7	73						7	73	---	---	---	---
LOC101928516	101928516	broad.mit.edu	37	6	75178491	75178491	+	lincRNA	DEL	C	C	-			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr6:75178491delC	ENST00000435946.1	+	0	193																											taggaaaatgccccagtggga	0.617																																						ENST00000435946.1																			0																																																			0							g.chr6:75178491delC																													6.37:g.75178491delC														0	193	+									RNA	DEL	ENST00000435946.1	37																																																																																						0.617	RP11-554D15.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000041234.1			2	4						2	4	---	---	---	---
RRAGD	58528	broad.mit.edu	37	6	90121645	90121647	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr6:90121645_90121647delTCC	ENST00000369415.4	-	1	342_344	c.66_68delGGA	c.(64-69)gaggat>gat	p.E22del	RRAGD_ENST00000492783.1_5'Flank|RRAGD_ENST00000359203.3_5'UTR	NM_021244.4	NP_067067.1			Ras-related GTP binding D											breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		CACCAGctcatcctcctcctcct	0.754																																						ENST00000369415.4																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15						c.(64-69)gat>ga		Ras-related GTP binding D				97,9,3788		4,0,89,2,5,1847						0.6	1.0			17	184,8,7442		9,0,166,1,6,3635	no	codingComplex	RRAGD	NM_021244.4		13,0,255,3,11,5482	A1A1,A1A2,A1R,A2A2,A2R,RR		2.5151,2.7221,2.585				281,17,11230				SO:0001651	inframe_deletion	58528				cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity	g.chr6:90121645_90121647delTCC	AF272036	CCDS5022.1	6q15-q16	2008-02-05			ENSG00000025039	ENSG00000025039			19903	protein-coding gene	gene with protein product		608268				11073942	Standard	NM_021244		Approved	DKFZP761H171, bA11D8.2.1	uc003pnd.4	Q9NQL2	OTTHUMG00000015200	ENST00000369415.4:c.66_68delGGA	6.37:g.90121654_90121656delTCC	ENSP00000358423:p.Glu22del					RRAGD_ENST00000359203.2_5'UTR	p.ED22del	NM_021244.4	NP_067067.1	Q9NQL2	RRAGD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0144)	1	342_344	-		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)	22						In_Frame_Del	DEL	ENST00000369415.4	37	c.66_68delGGA	CCDS5022.1																																																																																				0.754	RRAGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041484.1	NM_021244		3	4						3	4	---	---	---	---
LINC00222	387111	broad.mit.edu	37	6	109083264	109083264	+	lincRNA	DEL	T	T	-			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr6:109083264delT	ENST00000416104.1	+	0	324									long intergenic non-protein coding RNA 222																		aggtgaatcatttgaggccag	0.522																																						ENST00000416104.1																			0																																																			0							g.chr6:109083264delT	AY927445		6q21	2013-05-31	2011-08-11	2011-08-11	ENSG00000203801	ENSG00000203801		"""Long non-coding RNAs"""	21560	non-coding RNA	RNA, long non-coding			"""chromosome 6 open reading frame 181"", ""non-protein coding RNA 222"""	C6orf181, NCRNA00222			Standard	NR_033376		Approved	dJ354J5.2	uc003psq.4		OTTHUMG00000015330		6.37:g.109083264delT														0	324	+									RNA	DEL	ENST00000416104.1	37																																																																																						0.522	LINC00222-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000317438.1			3	6						3	6	---	---	---	---
AZGP1P1	646282	broad.mit.edu	37	7	99578706	99578706	+	RNA	DEL	A	A	-	rs199656890		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr7:99578706delA	ENST00000425474.1	+	0	87					NR_036679.1				alpha-2-glycoprotein 1, zinc-binding pseudogene 1																		cttagtttacagtgaaaacaa	0.522																																						ENST00000425474.1																			0																																																			0							g.chr7:99578706delA	AW995302		7q22.1	2010-04-16	2006-11-07		ENSG00000214313	ENSG00000214313			911	pseudogene	pseudogene			"""alpha-2-glycoprotein 1, zinc pseudogene 1"""			8241150, 8307568	Standard	NR_036679		Approved		uc003usi.2		OTTHUMG00000156513		7.37:g.99578706delA								NR_036679.1						0	87	+									RNA	DEL	ENST00000425474.1	37																																																																																						0.522	AZGP1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344467.1			3	5						3	5	---	---	---	---
TBXAS1	6916	broad.mit.edu	37	7	139717541	139717550	+	Frame_Shift_Del	DEL	TGCCTCGGGG	TGCCTCGGGG	-	rs199422116		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr7:139717541_139717550delTGCCTCGGGG	ENST00000336425.5	+	16	1824_1833	c.1435_1444delTGCCTCGGGG	c.(1435-1446)tgcctcggggtgfs	p.CLGV479fs	TBXAS1_ENST00000414508.2_Intron|TBXAS1_ENST00000263552.6_Frame_Shift_Del_p.CLGV480fs|TBXAS1_ENST00000416849.2_Frame_Shift_Del_p.CLGV526fs|TBXAS1_ENST00000448866.1_Frame_Shift_Del_p.CLGV479fs|TBXAS1_ENST00000425687.1_Frame_Shift_Del_p.CLGV412fs|TBXAS1_ENST00000436047.2_Frame_Shift_Del_p.CLGV480fs|TBXAS1_ENST00000458722.1_Frame_Shift_Del_p.CLGV525fs|TBXAS1_ENST00000411653.1_Intron			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	479					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	CCCACGGAGCTGCCTCGGGGTGCGTCTAGG	0.681																																						ENST00000263552.6																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	GRCh37	CM080566	TBXAS1	M		c.(1438-1449)tgfs		thromboxane A synthase 1 (platelet)																																				SO:0001589	frameshift_variant	6916				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity	g.chr7:139717541_139717550delTGCCTCGGGG	L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"""Cytochrome P450s"""	11609	protein-coding gene	gene with protein product	"""cytochrome P450, family 5, subfamily A, polypeptide 1"""	274180	"""thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"""			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000336425.5:c.1435_1444delTGCCTCGGGG	7.37:g.139717541_139717550delTGCCTCGGGG	ENSP00000338087:p.Cys479fs					TBXAS1_ENST00000458722.1_Frame_Shift_Del_p.CLGV525fs|TBXAS1_ENST00000411653.1_Intron|TBXAS1_ENST00000336425.5_Frame_Shift_Del_p.CLGV479fs|TBXAS1_ENST00000436047.2_Frame_Shift_Del_p.CLGV480fs|TBXAS1_ENST00000425687.1_Frame_Shift_Del_p.CLGV412fs|TBXAS1_ENST00000448866.1_Frame_Shift_Del_p.CLGV479fs|TBXAS1_ENST00000414508.2_Intron|TBXAS1_ENST00000416849.2_Frame_Shift_Del_p.CLGV526fs	p.CLGV480fs	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN			16	1976_1985	+	Melanoma(164;0.0142)		479					B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Frame_Shift_Del	DEL	ENST00000336425.5	37	c.1438_1447delTGCCTCGGGG																																																																																					0.681	TBXAS1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000348373.1			13	111						13	111	---	---	---	---
LOC101929415	101929415	broad.mit.edu	37	8	57452525	57452526	+	RNA	DEL	GA	GA	-	rs149508379|rs377194666		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr8:57452525_57452526delGA	ENST00000518662.1	+	0	827				RP11-17A4.3_ENST00000523724.1_lincRNA|LINC00968_ENST00000499425.1_lincRNA																							ggcagaggaggagagagagaga	0.569																																						ENST00000518662.1																			0																																																			0							g.chr8:57452525_57452526delGA																													8.37:g.57452535_57452536delGA						RP11-17A4.3_ENST00000523724.1_lincRNA|LINC00968_ENST00000499425.1_lincRNA								0	827	+									RNA	DEL	ENST00000518662.1	37																																																																																						0.569	RP11-17A4.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000378652.1			3	5						3	5	---	---	---	---
LOC101929628	101929628	broad.mit.edu	37	8	62804624	62804624	+	lincRNA	DEL	T	T	-	rs535964565		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr8:62804624delT	ENST00000519215.1	+	0	37																											atggtgggacttttgtttatt	0.343																																						ENST00000519215.1																			0																																																			0							g.chr8:62804624delT																													8.37:g.62804624delT														0	37	+									RNA	DEL	ENST00000519215.1	37																																																																																						0.343	RP11-705O24.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000378346.1			2	4						2	4	---	---	---	---
ARMC4P1	101060171	broad.mit.edu	37	10	27562483	27562483	+	RNA	DEL	C	C	-			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr10:27562483delC	ENST00000576034.1	+	0	399									armadillo repeat containing 4 pseudogene 1																		tttaaatcctccaatggtgtt	0.313																																						ENST00000576034.1																			0																																																			0							g.chr10:27562483delC			10p12.1	2012-12-19			ENSG00000238021	ENSG00000238021			44937	pseudogene	pseudogene							Standard	XM_006709935		Approved				OTTHUMG00000017856		10.37:g.27562483delC														0	399	+									RNA	DEL	ENST00000576034.1	37																																																																																						0.313	ARMC4P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000436997.1			2	4						2	4	---	---	---	---
LINC00837	100507605	broad.mit.edu	37	10	29080464	29080476	+	lincRNA	DEL	AAGGGCTGGCCCA	AAGGGCTGGCCCA	-	rs199524397|rs3842228|rs201912408|rs150221855	byFrequency	TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr10:29080464_29080476delAAGGGCTGGCCCA	ENST00000443246.2	-	0	1631_1643				RP11-478H13.3_ENST00000426922.2_lincRNA	NR_038374.1|NR_038375.1|NR_038376.1				long intergenic non-protein coding RNA 837																		AGAAGGAGGGAAGGGCTGGCCCAAAGGGCTTCA	0.61														1027	0.205072	0.3359	0.1412	5008	,	,		22174	0.0506		0.2495	False		,,,				2504	0.1871					ENST00000443246.2																			0																																																			0							g.chr10:29080464_29080476delAAGGGCTGGCCCA			10p12.1	2012-12-19			ENSG00000235824	ENSG00000235824		"""Long non-coding RNAs"""	27436	non-coding RNA	RNA, long non-coding							Standard	NR_038374		Approved		uc021poo.1		OTTHUMG00000017876		10.37:g.29080464_29080476delAAGGGCTGGCCCA								NR_038374.1|NR_038375.1|NR_038376.1						0	1631_1643	-									RNA	DEL	ENST00000443246.2	37																																																																																						0.610	LINC00837-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000047376.2	NR_038374		2	4						2	4	---	---	---	---
RP11-556E13.1	0	broad.mit.edu	37	10	54351318	54351319	+	RNA	DEL	TG	TG	-	rs142004326		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr10:54351318_54351319delTG	ENST00000443523.1	-	0	100																											cctaacacactgtgtgtgtgtg	0.465																																						ENST00000443523.1																			0																																																			0							g.chr10:54351318_54351319delTG																													10.37:g.54351328_54351329delTG														0	100	-									RNA	DEL	ENST00000443523.1	37																																																																																						0.465	RP11-556E13.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000048113.1			2	4						2	4	---	---	---	---
DUSP5	1847	broad.mit.edu	37	10	112266691	112266692	+	Splice_Site	INS	-	-	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr10:112266691_112266692insG	ENST00000369583.3	+	3	812		c.e3-1		DUSP5_ENST00000468749.1_Splice_Site	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5						endoderm formation (GO:0001706)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		CCCTGCATCCAGGGTGGCCCAG	0.48																																						ENST00000369583.3																			0				kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13						c.e3-1		dual specificity phosphatase 5																																				SO:0001630	splice_region_variant	1847				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr10:112266691_112266692insG	U16996	CCDS7566.1	10q25	2011-06-09			ENSG00000138166	ENSG00000138166		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3071	protein-coding gene	gene with protein product		603069				7806236	Standard	NM_004419		Approved	HVH3	uc001kzd.3	Q16690	OTTHUMG00000019040	ENST00000369583.3:c.529-1->G	10.37:g.112266694_112266694dupG						DUSP5_ENST00000468749.1_Splice_Site		NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)	3	812	+		Breast(234;0.0848)						Q12997|Q5T603	Splice_Site	INS	ENST00000369583.3	37		CCDS7566.1																																																																																				0.480	DUSP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050333.1	NM_004419	Intron	8	302						8	302	---	---	---	---
RP11-98J9.1	0	broad.mit.edu	37	11	13833269	13833269	+	lincRNA	DEL	T	T	-	rs35757293|rs200940160|rs397848077	byFrequency	TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr11:13833269delT	ENST00000531749.1	+	0	188																											taattttttgttttttttttt	0.368													|||unknown(HR)	2202	0.439696	0.4486	0.4193	5008	,	,		18437	0.3611		0.4831	False		,,,				2504	0.4785					ENST00000531749.1																			0																																																			0							g.chr11:13833269delT																													11.37:g.13833269delT														0	188	+									RNA	DEL	ENST00000531749.1	37																																																																																						0.368	RP11-98J9.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000386010.1			3	3						3	3	---	---	---	---
RP11-94P11.4	0	broad.mit.edu	37	11	105132683	105132684	+	lincRNA	INS	-	-	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr11:105132683_105132684insA	ENST00000528811.1	-	0	145																											agaaggaaaAgaggaagggagg	0.485																																						ENST00000528811.1																			0																																																			0							g.chr11:105132683_105132684insA																													11.37:g.105132684_105132684dupA														0	145	-									RNA	INS	ENST00000528811.1	37																																																																																						0.485	RP11-94P11.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000388453.2			2	4						2	4	---	---	---	---
TMPRSS5	80975	broad.mit.edu	37	11	113567582	113567582	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr11:113567582delG	ENST00000299882.5	-	6	724	c.576delC	c.(574-576)cccfs	p.P192fs	TMPRSS5_ENST00000540540.1_5'UTR|TMPRSS5_ENST00000544634.1_Frame_Shift_Del_p.P192fs|TMPRSS5_ENST00000544476.1_Frame_Shift_Del_p.P148fs|TMPRSS5_ENST00000545579.1_Frame_Shift_Del_p.P183fs|TMPRSS5_ENST00000536856.1_5'UTR|TMPRSS5_ENST00000538955.1_Frame_Shift_Del_p.P148fs	NM_030770.2	NP_110397.2	Q9H3S3	TMPS5_HUMAN	transmembrane protease, serine 5	192	SRCR.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	peptidase activity (GO:0008233)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)		AGTCCTACCTGGGCTGCCACG	0.547																																						ENST00000299882.5																			0				endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						c.(574-576)ccfs		transmembrane protease, serine 5							51.0	55.0	54.0					11																	113567582		1984	4157	6141	SO:0001589	frameshift_variant	80975				proteolysis	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:113567582delG	AB028140	CCDS44735.1, CCDS73390.1, CCDS73391.1, CCDS73392.1, CCDS73393.1	11q	2010-04-13	2008-07-31		ENSG00000166682	ENSG00000166682		"""Serine peptidases / Transmembrane"""	14908	protein-coding gene	gene with protein product	"""spinesin"""	606751					Standard	NM_030770		Approved	MGC141886, MGC148044	uc001poc.4	Q9H3S3	OTTHUMG00000168186	ENST00000299882.5:c.576delC	11.37:g.113567582delG	ENSP00000299882:p.Pro192fs					TMPRSS5_ENST00000545579.1_Frame_Shift_Del_p.P183fs|TMPRSS5_ENST00000536856.1_5'UTR|TMPRSS5_ENST00000544634.1_Frame_Shift_Del_p.P192fs|TMPRSS5_ENST00000540540.1_5'UTR|TMPRSS5_ENST00000538955.1_Frame_Shift_Del_p.P148fs|TMPRSS5_ENST00000544476.1_Frame_Shift_Del_p.P148fs	p.P192fs	NM_030770.2	NP_110397.2	Q9H3S3	TMPS5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)	6	724	-		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)	192			SRCR.			Frame_Shift_Del	DEL	ENST00000299882.5	37	c.576delC	CCDS44735.1																																																																																				0.547	TMPRSS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398652.1	NM_030770		2	4						2	4	---	---	---	---
LOC100507377	100507377	broad.mit.edu	37	12	74669120	74669120	+	lincRNA	DEL	T	T	-	rs35644413|rs397820200|rs73182763		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr12:74669120delT	ENST00000515416.2	-	0	464				RP11-274M17.3_ENST00000552046.1_lincRNA																							TTTTTTGGGGTTTTTTTTTTT	0.308																																						ENST00000515416.2																			0																																																			0							g.chr12:74669120delT																													12.37:g.74669120delT						RP11-274M17.3_ENST00000552046.1_RNA								0	464	-									RNA	DEL	ENST00000515416.2	37																																																																																						0.308	RP11-81H3.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000405900.1			3	5						3	5	---	---	---	---
AL132819.1	0	broad.mit.edu	37	14	99828698	99828699	+	RNA	DEL	CA	CA	-	rs61984102		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr14:99828698_99828699delCA	ENST00000401354.1	+	0	71_72																											ctctctctctcACACACACACA	0.5																																						ENST00000401354.1																			0																																																			0							g.chr14:99828698_99828699delCA																													14.37:g.99828708_99828709delCA														0	71_72	+									RNA	DEL	ENST00000401354.1	37																																																																																						0.500	AL132819.1-201	NOVEL	basic	miRNA	miRNA				3	4						3	4	---	---	---	---
AC002331.1	0	broad.mit.edu	37	16	26599065	26599068	+	lincRNA	DEL	ACAG	ACAG	-	rs71134607|rs142408431	byFrequency	TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr16:26599065_26599068delACAG	ENST00000443373.1	-	0	104																											ACATACAGACacagacagacagac	0.353																																						ENST00000443373.1																			0																																																			0							g.chr16:26599065_26599068delACAG																													16.37:g.26599073_26599076delACAG														0	104	-									RNA	DEL	ENST00000443373.1	37																																																																																						0.353	AC002331.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000133457.1			2	4						2	4	---	---	---	---
RP11-626K17.3	0	broad.mit.edu	37	16	32468054	32468055	+	lincRNA	INS	-	-	T	rs144763151		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr16:32468054_32468055insT	ENST00000565549.1	-	0	2024_2025																											taatttttgtatttttttgtag	0.5																																						ENST00000565549.1																			0																																																			0							g.chr16:32468054_32468055insT																													16.37:g.32468061_32468061dupT														0	2024_2025	-									RNA	INS	ENST00000565549.1	37																																																																																						0.500	RP11-626K17.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000432344.1			3	3						3	3	---	---	---	---
CTD-2015G9.2	0	broad.mit.edu	37	16	86756961	86756962	+	lincRNA	INS	-	-	GC	rs370991779|rs57280026		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr16:86756961_86756962insGC	ENST00000562064.1	+	0	56				CTD-2015G9.1_ENST00000563331.1_lincRNA																							tgcaggtgcgtgtgtgtgtgtg	0.465																																						ENST00000562064.1																			0																																																			0							g.chr16:86756961_86756962insGC																													16.37:g.86756961_86756962insGC														0	56	+									RNA	INS	ENST00000562064.1	37																																																																																						0.465	CTD-2015G9.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000432205.1			2	4						2	4	---	---	---	---
RP11-260A9.6	0	broad.mit.edu	37	17	25320407	25320408	+	lincRNA	INS	-	-	A	rs149373182		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr17:25320407_25320408insA	ENST00000580686.1	-	0	117																											atgcaattttgaaaaacaaggc	0.495																																						ENST00000580686.1																			0																																																			0							g.chr17:25320407_25320408insA																													17.37:g.25320412_25320412dupA														0	117	-									RNA	INS	ENST00000580686.1	37																																																																																						0.495	RP11-260A9.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000445051.1			4	3						4	3	---	---	---	---
LINC00683	400660	broad.mit.edu	37	18	74332283	74332283	+	lincRNA	DEL	C	C	-	rs574165466	byFrequency	TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr18:74332283delC	ENST00000579781.1	+	0	326				RP11-111H3.3_ENST00000582231.1_lincRNA					long intergenic non-protein coding RNA 683																		GCTGTGAGCTCCCCCCCCCCA	0.687													|||unknown(HR)	115	0.0229633	0.0348	0.0043	5008	,	,		6946	0.0238		0.0169	False		,,,				2504	0.0256					ENST00000579781.1																			0																																																			0							g.chr18:74332283delC	AK094957		18q23	2012-10-16			ENSG00000266256	ENSG00000266256		"""Long non-coding RNAs"""	44467	non-coding RNA	RNA, long non-coding							Standard	NR_120419		Approved				OTTHUMG00000179274		18.37:g.74332283delC														0	326	+									RNA	DEL	ENST00000579781.1	37																																																																																						0.687	LINC00683-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000445528.1			2	4						2	4	---	---	---	---
LOC101928845	101928845	broad.mit.edu	37	19	14452301	14452302	+	lincRNA	INS	-	-	A	rs572829999|rs34742113|rs370991450	byFrequency	TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr19:14452301_14452302insA	ENST00000588275.1	+	0	277				CTC-548K16.2_ENST00000586698.1_lincRNA																							tcccaaaaattaaaaaaaaaaG	0.54													|||unknown(HR)	2534	0.50599	0.5174	0.4524	5008	,	,		16953	0.5546		0.4264	False		,,,				2504	0.5603					ENST00000588275.1																			0																																																			0							g.chr19:14452301_14452302insA																													19.37:g.14452311_14452311dupA						CTC-548K16.2_ENST00000586698.1_lincRNA								0	277	+									RNA	INS	ENST00000588275.1	37																																																																																						0.540	CTC-548K16.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000459816.1			5	2						5	2	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11069159	11069160	+	RNA	DEL	TA	TA	-	rs4009917|rs2775367|rs199706766	byFrequency	TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr21:11069159_11069160delTA	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)		aataatatattaaaaaaaactt	0.277																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11069159_11069160delTA	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.11069159_11069160delTA												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	DEL	ENST00000470054.1	37																																																																																						0.277	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		5	5						5	5	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11088488	11088488	+	RNA	DEL	G	G	-	rs59973390|rs113519528|rs55881937|rs561074788	byFrequency	TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr21:11088488delG	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)		ttgtttttttgttgttgttgt	0.403																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11088488delG	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.11088488delG												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	DEL	ENST00000470054.1	37																																																																																						0.403	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		3	5						3	5	---	---	---	---
AP000318.2	0	broad.mit.edu	37	21	35623781	35623782	+	lincRNA	DEL	TG	TG	-	rs146896928		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr21:35623781_35623782delTG	ENST00000427022.1	+	0	311				AP000320.7_ENST00000362077.4_RNA																							AAAAGAACAATGTGTGTGTGTG	0.48																																						ENST00000427022.1																			0																																																			0							g.chr21:35623781_35623782delTG																													21.37:g.35623791_35623792delTG														0	311	+									RNA	DEL	ENST00000427022.1	37																																																																																						0.480	AP000318.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000194066.1			3	4						3	4	---	---	---	---
LL22NC03-2H8.4	0	broad.mit.edu	37	22	22648230	22648230	+	lincRNA	DEL	A	A	-	rs35420200	byFrequency	TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr22:22648230delA	ENST00000412149.1	+	0	133																											cagggtgatgacacatccaga	0.612													?|A|-|unsure	997	0.199081	0.1172	0.2752	5008	,	,		23021	0.1607		0.2157	False		,,,				2504	0.2781					ENST00000412149.1																			0																																																			0							g.chr22:22648230delA																													22.37:g.22648230delA														0	133	+									RNA	DEL	ENST00000412149.1	37																																																																																						0.612	LL22NC03-2H8.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000321097.1			7	3						7	3	---	---	---	---
RP1-231P7P.1	0	broad.mit.edu	37	22	27969425	27969425	+	lincRNA	DEL	C	C	-	rs35207321		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr22:27969425delC	ENST00000415655.1	-	0	66																											CTTTCGAAGAcccccccgctg	0.507																																						ENST00000415655.1																			0																																																			0							g.chr22:27969425delC																													22.37:g.27969425delC														0	66	-									RNA	DEL	ENST00000415655.1	37																																																																																						0.507	RP1-231P7P.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000320631.1			3	4						3	4	---	---	---	---
