#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
UHRF2	115426	broad.mit.edu	37	9	6460622	6460622	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr9:6460622C>T	ENST00000276893.5	+	4	862	c.694C>T	c.(694-696)Cga>Tga	p.R232*		NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	232	Interaction with PCNP.|Required for interaction with histone H3. {ECO:0000250}.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of cell cycle arrest (GO:0071158)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		TCTTAGACCACGAGCTAGAAC	0.373																																						ENST00000276893.5																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17						c.(694-696)Cga>Tga		ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase							100.0	101.0	101.0					9																	6460622		2203	4300	6503	SO:0001587	stop_gained	115426				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:6460622C>T	AF274049	CCDS6469.1	9p24.1	2013-01-28	2012-02-23		ENSG00000147854	ENSG00000147854		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	12557	protein-coding gene	gene with protein product	"""Np95-like ring finger protein"""	615211	"""ubiquitin-like with PHD and ring finger domains 2"""			12176013	Standard	NM_152896		Approved	RNF107, NIRF, URF2, MGC33463	uc003zjy.3	Q96PU4	OTTHUMG00000019521	ENST00000276893.5:c.694C>T	9.37:g.6460622C>T	ENSP00000276893:p.Arg232*						p.R232*	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)	4	862	+		Acute lymphoblastic leukemia(23;0.158)	232			Interaction with PCNP.		Q5VYR1|Q5VYR3|Q659C8|Q8TAG7	Nonsense_Mutation	SNP	ENST00000276893.5	37	c.694C>T	CCDS6469.1	.	.	.	.	.	.	.	.	.	.	C	36	5.644545	0.96704	.	.	ENSG00000147854	ENST00000276893;ENST00000450508	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.5571	14.1812	0.65577	0.1498:0.8502:0.0:0.0	.	.	.	.	X	232;9	.	ENSP00000276893:R232X	R	+	1	2	UHRF2	6450622	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.126000	0.57937	2.652000	0.90054	0.591000	0.81541	CGA		0.373	UHRF2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051665.3	NM_152306		41	29	0	0	0	1	0	41	29				
IMPA1	3612	broad.mit.edu	37	8	82572902	82572902	+	Splice_Site	SNP	C	C	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr8:82572902C>G	ENST00000256108.5	-	8	1032	c.567G>C	c.(565-567)ggG>ggC	p.G189G	IMPA1_ENST00000523710.1_5'UTR|IMPA1_ENST00000311489.4_Splice_Site_p.G153A|IMPA1_ENST00000449740.2_Splice_Site_p.G248G	NM_005536.3	NP_005527.1	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1	189					inositol biosynthetic process (GO:0006021)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|inositol monophosphate phosphatase activity (GO:0052834)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1)	18					Lithium(DB01356)	CACTCCGGATCCTAACAAATA	0.378																																						ENST00000256108.5																			0				NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1)	18						c.e8-1		inositol(myo)-1(or 4)-monophosphatase 1	Lithium(DB01356)						57.0	55.0	56.0					8																	82572902		2203	4299	6502	SO:0001630	splice_region_variant	3612				inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity	g.chr8:82572902C>G		CCDS6231.1, CCDS47883.1, CCDS47884.1	8q21.1-q21.3	2008-01-28			ENSG00000133731	ENSG00000133731	3.1.3.25		6050	protein-coding gene	gene with protein product		602064		IMPA		1377913	Standard	NM_005536		Approved		uc011lfq.1	P29218	OTTHUMG00000164682	ENST00000256108.5:c.567-1G>C	8.37:g.82572902C>G						IMPA1_ENST00000449740.2_Splice_Site_p.G248_splice|IMPA1_ENST00000523710.1_5'UTR|IMPA1_ENST00000311489.4_Splice_Site_p.G153_splice	p.G189_splice	NM_005536.3	NP_005527.1	P29218	IMPA1_HUMAN			8	1032	-			189					B2R733|B4DLN3|B7Z6Q4|J3KQT7|Q9UK71	Splice_Site	SNP	ENST00000256108.5	37	c.566_splice	CCDS6231.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.62|15.62	2.886552|2.886552	0.51908|0.51908	.|.	.|.	ENSG00000133731|ENSG00000133731	ENST00000523942|ENST00000311489	.|T	.|0.29397	.|1.57	4.21|4.21	2.16|2.16	0.27623|0.27623	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.22399|0.22399	0.0540|0.0540	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|B	.|0.09022	.|0.002	.|B	.|0.13407	.|0.009	T|T	0.07673|0.07673	-1.0760|-1.0760	4|9	.|0.62326	.|D	.|0.03	.|.	6.8176|6.8176	0.23839|0.23839	0.0:0.7425:0.0:0.2575|0.0:0.7425:0.0:0.2575	.|.	.|153	.|B4DLN3	.|.	H|A	214|153	.|ENSP00000311803:G153A	.|ENSP00000311803:G153A	D|G	-|-	1|2	0|0	IMPA1|IMPA1	82735457|82735457	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.865000|0.865000	0.49528|0.49528	0.863000|0.863000	0.27913|0.27913	0.820000|0.820000	0.34516|0.34516	0.637000|0.637000	0.83480|0.83480	GAT|GGA		0.378	IMPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379723.1		Silent	9	32	0	0	0	1	0	9	32				
ITGA5	3678	broad.mit.edu	37	12	54797970	54797970	+	Silent	SNP	T	T	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr12:54797970T>A	ENST00000293379.4	-	15	1785	c.1524A>T	c.(1522-1524)ccA>ccT	p.P508P	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	508					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TCCGCTCCTCTGGGTTGAACA	0.612											OREG0021554	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000293379.4																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						c.(1522-1524)ccA>ccT		integrin, alpha 5 (fibronectin receptor, alpha polypeptide)							72.0	78.0	76.0					12																	54797970		2203	4300	6503	SO:0001819	synonymous_variant	3678				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr12:54797970T>A		CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"""CD molecules"", ""Integrins"""	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.1524A>T	12.37:g.54797970T>A			OREG0021554	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1003	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	p.P508P	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN			15	1785	-			508					Q96HA5	Silent	SNP	ENST00000293379.4	37	c.1524A>T	CCDS8880.1																																																																																				0.612	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1			34	43	0	0	0	1	0	34	43				
PCLO	27445	broad.mit.edu	37	7	82581457	82581457	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr7:82581457C>G	ENST00000333891.9	-	5	9149	c.8812G>C	c.(8812-8814)Gct>Cct	p.A2938P	PCLO_ENST00000437081.1_5'Flank|PCLO_ENST00000423517.2_Missense_Mutation_p.A2938P	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						CAGCACACAGCTCTTCTCCCT	0.433																																						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.(8812-8814)Gct>Cct		piccolo presynaptic cytomatrix protein							105.0	106.0	106.0					7																	82581457		1917	4125	6042	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.chr7:82581457C>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.8812G>C	7.37:g.82581457C>G	ENSP00000334319:p.Ala2938Pro					PCLO_ENST00000333891.8_Missense_Mutation_p.A2938P	p.A2938P	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	9149	-			2869						Missense_Mutation	SNP	ENST00000333891.9	37	c.8812G>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	9.800	1.180402	0.21787	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17213	2.29;2.3	5.67	4.79	0.61399	.	.	.	.	.	T	0.32164	0.0820	L	0.47716	1.5	0.80722	D	1	D;D	0.61080	0.989;0.989	P;P	0.61201	0.885;0.885	T	0.04427	-1.0952	9	0.87932	D	0	.	14.4243	0.67204	0.0:0.9293:0.0:0.0707	.	2938;2938	Q9Y6V0-5;Q9Y6V0-6	.;.	P	2869;2938;2938	ENSP00000334319:A2938P;ENSP00000388393:A2938P	ENSP00000334319:A2938P	A	-	1	0	PCLO	82419393	1.000000	0.71417	0.995000	0.50966	0.948000	0.59901	2.508000	0.45450	1.389000	0.46526	0.557000	0.71058	GCT		0.433	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		7	138	0	0	0	1	0	7	138				
PCDHA2	56146	broad.mit.edu	37	5	140176805	140176805	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr5:140176805G>T	ENST00000526136.1	+	1	2256	c.2256G>T	c.(2254-2256)caG>caT	p.Q752H	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.Q752H|PCDHA2_ENST00000520672.2_Missense_Mutation_p.Q752H	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	752	5 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTACTCGCAGCAGAGGCGGC	0.672																																						ENST00000526136.1																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(2254-2256)caG>caT									43.0	47.0	46.0					5																	140176805		2203	4300	6503	SO:0001583	missense	56146							g.chr5:140176805G>T	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.2256G>T	5.37:g.140176805G>T	ENSP00000431748:p.Gln752His					PCDHA2_ENST00000520672.2_Missense_Mutation_p.Q752H|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.Q752H|PCDHA1_ENST00000504120.2_Intron	p.Q752H	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2256	+								O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.2256G>T	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	g	11.99	1.804989	0.31961	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.79749	-1.3;-1.3;-1.3	4.0	4.0	0.46444	.	0.000000	0.37012	U	0.002292	D	0.83170	0.5196	M	0.91972	3.26	0.28734	N	0.902349	B;B;B	0.26318	0.043;0.046;0.146	B;B;B	0.33339	0.069;0.046;0.162	T	0.80443	-0.1380	10	0.72032	D	0.01	.	6.5107	0.22220	0.0934:0.0:0.726:0.1806	.	752;752;752	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	H	752	ENSP00000430584:Q752H;ENSP00000367372:Q752H;ENSP00000431748:Q752H	ENSP00000367372:Q752H	Q	+	3	2	PCDHA2	140156989	0.955000	0.32602	0.998000	0.56505	0.588000	0.36517	3.227000	0.51262	1.944000	0.56390	0.585000	0.79938	CAG		0.672	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		29	16	1	0	7.26314e-15	1	7.84888e-15	29	16				
SLC4A3	6508	broad.mit.edu	37	2	220501041	220501041	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr2:220501041C>A	ENST00000358055.3	+	15	2721	c.2209C>A	c.(2209-2211)Ctg>Atg	p.L737M	SLC4A3_ENST00000317151.3_Missense_Mutation_p.L737M|SLC4A3_ENST00000373762.3_Missense_Mutation_p.L764M|SLC4A3_ENST00000373760.2_Missense_Mutation_p.L737M|SLC4A3_ENST00000273063.6_Missense_Mutation_p.L764M			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	737	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACCGAGGGGCTGATGGGCGT	0.617																																						ENST00000358055.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(2209-2211)Ctg>Atg		solute carrier family 4 (anion exchanger), member 3							133.0	112.0	119.0					2																	220501041		2203	4300	6503	SO:0001583	missense	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220501041C>A		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.2209C>A	2.37:g.220501041C>A	ENSP00000350756:p.Leu737Met					SLC4A3_ENST00000373760.2_Missense_Mutation_p.L737M|SLC4A3_ENST00000373762.3_Missense_Mutation_p.L764M|SLC4A3_ENST00000317151.3_Missense_Mutation_p.L737M|SLC4A3_ENST00000273063.6_Missense_Mutation_p.L764M	p.L737M			P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	15	2721	+		Renal(207;0.0183)	737			Membrane (anion exchange).		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	c.2209C>A	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.664264	0.67700	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151	T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26	4.39	4.39	0.52855	Bicarbonate transporter, C-terminal (1);	0.063541	0.64402	D	0.000007	T	0.70107	0.3186	N	0.25144	0.715	0.58432	D	0.999997	B;B;B	0.29766	0.041;0.256;0.215	B;B;B	0.35607	0.036;0.206;0.172	T	0.70335	-0.4900	10	0.44086	T	0.13	.	17.5069	0.87748	0.0:1.0:0.0:0.0	.	441;737;764	P48751-2;P48751;P48751-3	.;B3A3_HUMAN;.	M	737;737;764;764;737	ENSP00000350756:L737M;ENSP00000362865:L737M;ENSP00000273063:L764M;ENSP00000362867:L764M;ENSP00000314006:L737M	ENSP00000273063:L764M	L	+	1	2	SLC4A3	220209285	0.721000	0.28007	1.000000	0.80357	0.985000	0.73830	1.417000	0.34770	2.415000	0.81967	0.542000	0.68232	CTG		0.617	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		64	24	1	0	3.30712e-30	1	3.77688e-30	64	24				
ADAMTS18	170692	broad.mit.edu	37	16	77327019	77327019	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr16:77327019C>A	ENST00000282849.5	-	20	3561	c.3143G>T	c.(3142-3144)tGc>tTc	p.C1048F	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1048	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GTTCTTGGGGCATCGTCCAAG	0.587																																						ENST00000282849.5																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(3142-3144)tGc>tTc		ADAM metallopeptidase with thrombospondin type 1 motif, 18							86.0	79.0	82.0					16																	77327019		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77327019C>A	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.3143G>T	16.37:g.77327019C>A	ENSP00000282849:p.Cys1048Phe						p.C1048F	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			20	3561	-			1048			TSP type-1 3.		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.3143G>T	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463755	0.63513	.	.	ENSG00000140873	ENST00000282849	D	0.98762	-5.12	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.99645	0.9869	H	0.99626	4.665	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97421	1.0009	10	0.87932	D	0	.	19.5634	0.95382	0.0:1.0:0.0:0.0	.	1048;1048	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	F	1048	ENSP00000282849:C1048F	ENSP00000282849:C1048F	C	-	2	0	ADAMTS18	75884520	1.000000	0.71417	1.000000	0.80357	0.043000	0.13939	7.190000	0.77755	2.868000	0.98415	0.557000	0.71058	TGC		0.587	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			29	52	1	0	7.41945e-09	1	7.76724e-09	29	52				
ITGB1	3688	broad.mit.edu	37	10	33217097	33217097	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr10:33217097C>T	ENST00000396033.2	-	5	607	c.472G>A	c.(472-474)Gat>Aat	p.D158N	ITGB1_ENST00000484088.1_Intron|ITGB1_ENST00000423113.1_Missense_Mutation_p.D158N|ITGB1_ENST00000302278.3_Missense_Mutation_p.D158N|ITGB1_ENST00000374956.4_Missense_Mutation_p.D158N	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	158	VWFA.				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)	TTCTCCAAATCGTCTTTCATT	0.393																																						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.(472-474)Gat>Aat		integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)							147.0	147.0	147.0					10																	33217097		2203	4300	6503	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.chr10:33217097C>T	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.472G>A	10.37:g.33217097C>T	ENSP00000379350:p.Asp158Asn					ITGB1_ENST00000302278.3_Missense_Mutation_p.D158N|ITGB1_ENST00000423113.1_Missense_Mutation_p.D158N|ITGB1_ENST00000484088.1_Intron|ITGB1_ENST00000374956.4_Missense_Mutation_p.D158N	p.D158N	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN			5	607	-		Ovarian(717;1.34e-05)|Breast(68;0.0634)	158			VWFA.		A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Missense_Mutation	SNP	ENST00000396033.2	37	c.472G>A	CCDS7174.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874948	0.72180	.	.	ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956;ENST00000480226	D;D;D;D;D	0.94793	-3.52;-3.52;-3.52;-3.52;-3.52	6.07	6.07	0.98685	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.96015	0.8702	M	0.66560	2.04	0.80722	D	1	P;P;P;D;P	0.64830	0.861;0.885;0.772;0.994;0.861	B;B;B;P;B	0.53450	0.21;0.208;0.345;0.726;0.409	D	0.95488	0.8566	10	0.59425	D	0.04	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	158;158;158;158;158	P05556-2;P05556;P05556-5;P05556-3;P05556-4	.;ITB1_HUMAN;.;.;.	N	158	ENSP00000379350:D158N;ENSP00000388694:D158N;ENSP00000303351:D158N;ENSP00000364094:D158N;ENSP00000417537:D158N	ENSP00000303351:D158N	D	-	1	0	ITGB1	33257103	1.000000	0.71417	0.863000	0.33907	0.264000	0.26372	7.792000	0.85828	2.885000	0.99019	0.655000	0.94253	GAT		0.393	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211		42	83	0	0	0	1	0	42	83				
FPGS	2356	broad.mit.edu	37	9	130566689	130566689	+	Silent	SNP	G	G	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr9:130566689G>T	ENST00000373247.2	+	2	314	c.264G>T	c.(262-264)ctG>ctT	p.L88L	FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000393706.2_Silent_p.L88L|FPGS_ENST00000373225.3_Silent_p.L38L|FPGS_ENST00000373245.1_Silent_p.L88L	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	88					brain development (GO:0007420)|folic acid metabolic process (GO:0046655)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|one-carbon metabolic process (GO:0006730)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|tetrahydrofolylpolyglutamate synthase activity (GO:0004326)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					Methotrexate(DB00563)|Pralatrexate(DB06813)|Raltitrexed(DB00293)	GGAGTGGGCTGCAGGTAAGGT	0.607																																						ENST00000373245.1																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)	7						c.(262-264)ctG>ctT		folylpolyglutamate synthase	L-Glutamic Acid(DB00142)						116.0	96.0	102.0					9																	130566689		2203	4300	6503	SO:0001819	synonymous_variant	2356				folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity	g.chr9:130566689G>T		CCDS35148.1, CCDS35149.1, CCDS75905.1	9q34.11	2013-09-19			ENSG00000136877	ENSG00000136877	6.3.2.17		3824	protein-coding gene	gene with protein product		136510					Standard	NM_004957		Approved		uc004bsg.1	Q05932	OTTHUMG00000020716	ENST00000373247.2:c.264G>T	9.37:g.130566689G>T						FPGS_ENST00000373247.2_Silent_p.L88L|FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000393706.2_Silent_p.L88L|FPGS_ENST00000373225.3_Silent_p.L38L	p.L88L			Q05932	FOLC_HUMAN			2	314	+			88					B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	Silent	SNP	ENST00000373247.2	37	c.264G>T	CCDS35148.1																																																																																				0.607	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054251.1			28	35	1	0	3.69857e-22	1	4.15314e-22	28	35				
PARP12	64761	broad.mit.edu	37	7	139741483	139741483	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr7:139741483C>A	ENST00000263549.3	-	6	2016	c.1143G>T	c.(1141-1143)tgG>tgT	p.W381C	PARP12_ENST00000470515.1_5'UTR	NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	381	WWE 2. {ECO:0000255|PROSITE- ProRule:PRU00248}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					ACTCATCACTCCAGTACCAAA	0.512																																						ENST00000263549.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19						c.(1141-1143)tgG>tgT		poly (ADP-ribose) polymerase family, member 12							170.0	168.0	168.0					7																	139741483		2203	4300	6503	SO:0001583	missense	64761					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding	g.chr7:139741483C>A	AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	21919	protein-coding gene	gene with protein product		612481	"""zinc finger CCCH-type domain containing 1"""	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.1143G>T	7.37:g.139741483C>A	ENSP00000263549:p.Trp381Cys					PARP12_ENST00000470515.1_5'UTR	p.W381C	NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN			6	2016	-	Melanoma(164;0.0142)		381			WWE 2.		Q9H610|Q9NP36|Q9NTI3	Missense_Mutation	SNP	ENST00000263549.3	37	c.1143G>T	CCDS5857.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.330099	0.81690	.	.	ENSG00000059378	ENST00000263549	T	0.39592	1.07	5.11	5.11	0.69529	WWE domain (1);	0.000000	0.85682	D	0.000000	T	0.68915	0.3053	M	0.86097	2.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73344	-0.4012	10	0.52906	T	0.07	.	17.3102	0.87207	0.0:1.0:0.0:0.0	.	381	Q9H0J9	PAR12_HUMAN	C	381	ENSP00000263549:W381C	ENSP00000263549:W381C	W	-	3	0	PARP12	139387952	1.000000	0.71417	0.953000	0.39169	0.936000	0.57629	6.933000	0.75874	2.382000	0.81193	0.655000	0.94253	TGG		0.512	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	NM_022750		63	110	1	0	1.3268e-25	1	1.49824e-25	63	110				
TRBV11-2	28581	broad.mit.edu	37	7	142198012	142198012	+	lincRNA	SNP	A	A	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr7:142198012A>T	ENST00000471935.1	-	0	57									T cell receptor beta variable 11-2																		TGCCCATGGCAGGGTCAGGGA	0.562																																						ENST00000471935.1																			0																				61.0	64.0	63.0					7																	142198012		1950	4143	6093			28581							g.chr7:142198012A>T	L36092		7q34	2012-02-07			ENSG00000241657	ENSG00000241657		"""T cell receptors / TRB locus"""	12181	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV112, TCRBV11S2, TCRBV21S3A2N2T			OTTHUMG00000158536		7.37:g.142198012A>T														0	57	-									RNA	SNP	ENST00000471935.1	37																																																																																						0.562	TRBV11-2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000351242.2	NG_001333		22	41	0	0	0	1	0	22	41				
TMEM8A	58986	broad.mit.edu	37	16	424221	424221	+	Splice_Site	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr16:424221C>T	ENST00000431232.2	-	10	1915	c.1755G>A	c.(1753-1755)acG>acA	p.T585T	TMEM8A_ENST00000250930.3_Splice_Site_p.T392T|TMEM8A_ENST00000476735.1_5'Flank	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	585					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						GCCAGCCTACCGTGGAGAAGA	0.662											OREG0003702	type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000431232.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						c.e10+1		transmembrane protein 8A							52.0	55.0	54.0					16																	424221		2200	4299	6499	SO:0001630	splice_region_variant	58986				cell adhesion	integral to plasma membrane		g.chr16:424221C>T	AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"""transmembrane protein 6"", ""transmembrane protein 8 (five membrane-spanning domains)"""	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.1755+1G>A	16.37:g.424221C>T			OREG0003702	type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	588	TMEM8A_ENST00000250930.3_Splice_Site_p.T392_splice	p.T585_splice	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN			10	1915	-			585					D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Splice_Site	SNP	ENST00000431232.2	37	c.1755_splice	CCDS10407.1	.	.	.	.	.	.	.	.	.	.	C	4.141	0.024599	0.08054	.	.	ENSG00000129925	ENST00000424078	.	.	.	3.86	3.86	0.44501	.	.	.	.	.	T	0.57051	0.2027	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54146	-0.8337	4	.	.	.	-0.1004	7.7969	0.29152	0.0:0.8122:0.0:0.1878	.	.	.	.	H	92	.	.	R	-	2	0	TMEM8A	364222	1.000000	0.71417	1.000000	0.80357	0.377000	0.30045	2.420000	0.44679	2.169000	0.68431	0.563000	0.77884	CGT		0.662	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000109257.2	NM_021259	Silent	10	19	0	0	0	1	0	10	19				
KCNMB1	3779	broad.mit.edu	37	5	169805970	169805970	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr5:169805970T>A	ENST00000274629.4	-	4	756	c.314A>T	c.(313-315)tAc>tTc	p.Y105F	KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000518527.1_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	105					blood coagulation (GO:0007596)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to calcium ion (GO:0051592)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)	p.Y105F(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)	Miconazole(DB01110)|Procaine(DB00721)	GCCTGGGATGTAGGAGCACTG	0.522																																						ENST00000274629.4																			1	Substitution - Missense(1)	p.Y105F(1)	lung(1)	endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11						c.(313-315)tAc>tTc		potassium large conductance calcium-activated channel, subfamily M, beta member 1							54.0	56.0	55.0					5																	169805970		2203	4300	6503	SO:0001583	missense	3779				platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity	g.chr5:169805970T>A	AF035046	CCDS4373.1	5q34	2012-02-23			ENSG00000145936	ENSG00000145936		"""Potassium channels"""	6285	protein-coding gene	gene with protein product	"""BK channel beta subunit"""	603951				8799178, 9888999	Standard	NM_004137		Approved	hslo-beta	uc003maq.2	Q16558	OTTHUMG00000130439	ENST00000274629.4:c.314A>T	5.37:g.169805970T>A	ENSP00000274629:p.Tyr105Phe					KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000518527.1_Intron	p.Y105F	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)	4	756	-	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	105					O00707|O00708|P78475|Q53YR0|Q8TAX3|Q93005	Missense_Mutation	SNP	ENST00000274629.4	37	c.314A>T	CCDS4373.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.647640	0.87958	.	.	ENSG00000145936	ENST00000274629	T	0.23147	1.92	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.49592	0.1566	M	0.75777	2.31	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.50276	-0.8847	9	.	.	.	.	13.2086	0.59811	0.0:0.0:0.0:1.0	.	105	Q16558	KCMB1_HUMAN	F	105	ENSP00000274629:Y105F	.	Y	-	2	0	KCNMB1	169738548	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	6.836000	0.75349	2.003000	0.58678	0.397000	0.26171	TAC		0.522	KCNMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252830.3			14	10	0	0	0	1	0	14	10				
MTA3	57504	broad.mit.edu	37	2	42836652	42836652	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr2:42836652A>G	ENST00000405094.1	+	4	245	c.245A>G	c.(244-246)cAg>cGg	p.Q82R	MTA3_ENST00000407270.3_Missense_Mutation_p.Q82R|MTA3_ENST00000405592.1_Missense_Mutation_p.Q26R|MTA3_ENST00000406652.1_Missense_Mutation_p.Q26R|MTA3_ENST00000406911.1_Missense_Mutation_p.Q82R			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	82	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.					intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						ACCGATAAGCAGAAACATCAG	0.358																																						ENST00000405592.1																			0				endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						c.(76-78)cAg>cGg		metastasis associated 1 family, member 3							99.0	97.0	98.0					2																	42836652		1867	4115	5982	SO:0001583	missense	57504					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:42836652A>G	AB033092	CCDS46267.1, CCDS62900.1	2p22.1	2013-01-25	2004-12-15		ENSG00000057935	ENSG00000057935		"""GATA zinc finger domain containing"""	23784	protein-coding gene	gene with protein product		609050	"""metastasis associated gene family, member 3"""			12705869, 14613024	Standard	NM_001282755		Approved	KIAA1266	uc002rsq.3	Q9BTC8	OTTHUMG00000150452	ENST00000405094.1:c.245A>G	2.37:g.42836652A>G	ENSP00000385823:p.Gln82Arg					MTA3_ENST00000405094.1_Missense_Mutation_p.Q82R|MTA3_ENST00000407270.3_Missense_Mutation_p.Q82R|MTA3_ENST00000406652.1_Missense_Mutation_p.Q26R|MTA3_ENST00000406911.1_Missense_Mutation_p.Q82R	p.Q26R			Q9BTC8	MTA3_HUMAN			5	747	+			82			BAH.		Q9NSP2|Q9ULF4	Missense_Mutation	SNP	ENST00000405094.1	37	c.77A>G		.	.	.	.	.	.	.	.	.	.	A	20.8	4.056247	0.76074	.	.	ENSG00000057935	ENST00000405592;ENST00000406652;ENST00000407270;ENST00000282366;ENST00000406911;ENST00000405094	D;D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98;-1.98	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.91503	0.7317	M	0.76838	2.35	0.80722	D	1	P;P;P	0.48764	0.866;0.696;0.915	P;B;P	0.62740	0.67;0.438;0.906	D	0.92213	0.5778	10	0.59425	D	0.04	-19.3348	14.9279	0.70893	1.0:0.0:0.0:0.0	.	82;82;26	E7EQY4;Q9BTC8-2;D6W5A2	.;.;.	R	26;26;82;82;82;82	ENSP00000383973:Q26R;ENSP00000384249:Q26R;ENSP00000385045:Q82R;ENSP00000385241:Q82R;ENSP00000385823:Q82R	ENSP00000282366:Q82R	Q	+	2	0	MTA3	42690156	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	6.272000	0.72575	1.994000	0.58287	0.459000	0.35465	CAG		0.358	MTA3-017	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000318159.1	NM_020744		8	73	0	0	0	1	0	8	73				
OR8B8	26493	broad.mit.edu	37	11	124310617	124310617	+	Missense_Mutation	SNP	C	C	T	rs144609364	byFrequency	TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr11:124310617C>T	ENST00000328064.2	-	1	437	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	122					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GGCCACATAGCGGTCATACGC	0.488																																						ENST00000328064.2																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(364-366)cGc>cAc		olfactory receptor, family 8, subfamily B, member 8		T	HIS/ARG	3,4399	6.2+/-15.9	0,3,2198	97.0	89.0	92.0		365	1.7	0.7	11	dbSNP_134	92	0,8598		0,0,4299	yes	missense	OR8B8	NM_012378.1	29	0,3,6497	TT,TC,CC		0.0,0.0682,0.0231	probably-damaging	122/312	124310617	3,12997	2201	4299	6500	SO:0001583	missense	26493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124310617C>T	AF238488	CCDS8446.1	11q24.2	2012-08-09			ENSG00000197125	ENSG00000197125		"""GPCR / Class A : Olfactory receptors"""	8477	protein-coding gene	gene with protein product						9119360	Standard	NM_012378		Approved	TPCR85	uc010sal.2	Q15620	OTTHUMG00000165917	ENST00000328064.2:c.365G>A	11.37:g.124310617C>T	ENSP00000330280:p.Arg122His						p.R122H	NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	437	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	122					A1L446|Q96RC8	Missense_Mutation	SNP	ENST00000328064.2	37	c.365G>A	CCDS8446.1	.	.	.	.	.	.	.	.	.	.	c	13.79	2.342499	0.41498	6.82E-4	0.0	ENSG00000197125	ENST00000328064	T	0.77489	-1.1	3.52	1.67	0.24075	GPCR, rhodopsin-like superfamily (1);	0.134270	0.31673	N	0.007255	D	0.87712	0.6246	M	0.89715	3.055	0.34854	D	0.741902	D	0.89917	1.0	D	0.71870	0.975	D	0.90250	0.4293	10	0.87932	D	0	.	9.7866	0.40679	0.0:0.8235:0.0:0.1765	.	122	Q15620	OR8B8_HUMAN	H	122	ENSP00000330280:R122H	ENSP00000330280:R122H	R	-	2	0	OR8B8	123815827	0.974000	0.33945	0.735000	0.30896	0.141000	0.21300	2.977000	0.49297	0.496000	0.27904	-0.224000	0.12420	CGC		0.488	OR8B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387056.1	NM_012378		10	40	0	0	0	1	0	10	40				
DYSF	8291	broad.mit.edu	37	2	71838717	71838717	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr2:71838717G>T	ENST00000258104.3	+	38	4405	c.4128G>T	c.(4126-4128)aaG>aaT	p.K1376N	DYSF_ENST00000429174.2_Missense_Mutation_p.K1376N|DYSF_ENST00000409366.1_Missense_Mutation_p.K1377N|DYSF_ENST00000394120.2_Missense_Mutation_p.K1377N|DYSF_ENST00000409582.3_Missense_Mutation_p.K1393N|DYSF_ENST00000409762.1_Missense_Mutation_p.K1393N|DYSF_ENST00000409651.1_Missense_Mutation_p.K1408N|DYSF_ENST00000410020.3_Missense_Mutation_p.K1394N|DYSF_ENST00000410041.1_Missense_Mutation_p.K1394N|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Missense_Mutation_p.K1407N|DYSF_ENST00000409744.1_Missense_Mutation_p.K1363N	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1376	C2 5. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ACCTCCGGAAGAACCCCAACT	0.572																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(4126-4128)aaG>aaT		dysferlin							57.0	55.0	56.0					2																	71838717		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71838717G>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4128G>T	2.37:g.71838717G>T	ENSP00000258104:p.Lys1376Asn					DYSF_ENST00000429174.2_Missense_Mutation_p.K1376N|DYSF_ENST00000409762.1_Missense_Mutation_p.K1393N|DYSF_ENST00000409744.1_Missense_Mutation_p.K1363N|DYSF_ENST00000410041.1_Missense_Mutation_p.K1394N|DYSF_ENST00000409651.1_Missense_Mutation_p.K1408N|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Missense_Mutation_p.K1407N|DYSF_ENST00000409366.1_Missense_Mutation_p.K1377N|DYSF_ENST00000394120.2_Missense_Mutation_p.K1377N|DYSF_ENST00000409582.3_Missense_Mutation_p.K1393N|DYSF_ENST00000410020.3_Missense_Mutation_p.K1394N	p.K1376N	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			38	4405	+			1376					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.4128G>T	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622802	0.87460	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56	5.78	4.9	0.64082	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.90933	0.7150	M	0.85099	2.735	0.58432	D	0.999995	D;D;D;D;D;D;D;D;D;D;D;B;D;D;D	0.89917	1.0;0.991;1.0;1.0;1.0;0.999;0.969;0.999;0.995;1.0;0.999;0.336;1.0;1.0;1.0	D;D;D;D;D;D;P;D;D;D;D;B;D;D;D	0.97110	0.998;0.975;1.0;1.0;1.0;0.994;0.891;0.996;0.962;1.0;0.991;0.237;1.0;0.999;1.0	D	0.90606	0.4548	10	0.38643	T	0.18	-35.0752	12.7289	0.57187	0.0797:0.0:0.9203:0.0	.	119;1408;1394;1377;1363;1394;1363;1393;1362;1407;1393;1376;1362;1377;1376	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	N	1407;1393;1393;1376;1376;1408;1377;1363;1377;1394;1394	ENSP00000407046:K1407N;ENSP00000387137:K1393N;ENSP00000386547:K1393N;ENSP00000398305:K1376N;ENSP00000258104:K1376N;ENSP00000386683:K1408N;ENSP00000377678:K1377N;ENSP00000386285:K1363N;ENSP00000386512:K1377N;ENSP00000386881:K1394N;ENSP00000386617:K1394N	ENSP00000258104:K1376N	K	+	3	2	DYSF	71692225	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.519000	0.53458	1.457000	0.47850	0.561000	0.74099	AAG		0.572	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		5	34	1	0	0.217242	1	0.218328	5	34				
SNRNP200	23020	broad.mit.edu	37	2	96970578	96970578	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr2:96970578C>T	ENST00000323853.5	-	2	151	c.74G>A	c.(73-75)cGt>cAt	p.R25H	SNRNP200_ENST00000349783.5_Missense_Mutation_p.R25H|AC021188.4_ENST00000421534.1_RNA	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	25					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						AATGAGAGAACGGTCAGCTTG	0.522																																						ENST00000323853.5																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						c.(73-75)cGt>cAt		small nuclear ribonucleoprotein 200kDa (U5)							64.0	58.0	60.0					2																	96970578		2203	4300	6503	SO:0001583	missense	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96970578C>T	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.74G>A	2.37:g.96970578C>T	ENSP00000317123:p.Arg25His					SNRNP200_ENST00000349783.5_Missense_Mutation_p.R25H	p.R25H	NM_014014.4	NP_054733.2	O75643	U520_HUMAN			2	151	-			25					O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	c.74G>A	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.587850	0.86851	.	.	ENSG00000144028	ENST00000323853;ENST00000349783	T;T	0.46063	0.88;0.88	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.49389	0.1554	M	0.78801	2.425	0.80722	D	1	B	0.10296	0.003	B	0.04013	0.001	T	0.47861	-0.9084	10	0.56958	D	0.05	-11.3332	18.4682	0.90763	0.0:1.0:0.0:0.0	.	25	O75643	U520_HUMAN	H	25	ENSP00000317123:R25H;ENSP00000326937:R25H	ENSP00000317123:R25H	R	-	2	0	SNRNP200	96334305	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.361000	0.79497	2.658000	0.90341	0.563000	0.77884	CGT		0.522	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		14	32	0	0	0	1	0	14	32				
ZNF569	148266	broad.mit.edu	37	19	37904369	37904369	+	Silent	SNP	A	A	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr19:37904369A>T	ENST00000316950.6	-	6	1748	c.1191T>A	c.(1189-1191)ctT>ctA	p.L397L	ZNF569_ENST00000392149.2_Silent_p.L397L|ZNF569_ENST00000392150.2_Silent_p.L238L	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	397					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TATGTACAGTAAGGGCTGAGC	0.383																																						ENST00000316950.6																			0				breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1189-1191)ctT>ctA		zinc finger protein 569							105.0	100.0	102.0					19																	37904369		2203	4300	6503	SO:0001819	synonymous_variant	148266				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37904369A>T	AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.1191T>A	19.37:g.37904369A>T						ZNF569_ENST00000392150.2_Silent_p.L238L|ZNF569_ENST00000392149.2_Silent_p.L397L	p.L397L	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	1748	-			397					A8K1S2|Q15925|Q17RR6|Q96MQ2	Silent	SNP	ENST00000316950.6	37	c.1191T>A	CCDS12503.1																																																																																				0.383	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484		16	64	0	0	0	1	0	16	64				
ADAP2	55803	broad.mit.edu	37	17	29253865	29253865	+	Silent	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr17:29253865C>T	ENST00000330889.3	+	3	581	c.246C>T	c.(244-246)aaC>aaT	p.N82N	ADAP2_ENST00000580525.1_Silent_p.N88N	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	82	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				heart development (GO:0007507)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|mitochondrial envelope (GO:0005740)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						ACAATGGAAACCTCCGTGTGA	0.478																																						ENST00000330889.3																			1	Unknown(1)	p.?(1)	central_nervous_system(1)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(244-246)aaC>aaT		ArfGAP with dual PH domains 2							126.0	105.0	112.0					17																	29253865		2203	4300	6503	SO:0001819	synonymous_variant	55803				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	g.chr17:29253865C>T	AJ238994	CCDS11261.1	17q11.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000184060	ENSG00000184060		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16487	protein-coding gene	gene with protein product		608635	"""centaurin, alpha 2"""	CENTA2			Standard	XM_005258008		Approved		uc002hfx.3	Q9NPF8	OTTHUMG00000132868	ENST00000330889.3:c.246C>T	17.37:g.29253865C>T						ADAP2_ENST00000580525.1_Silent_p.N88N	p.N82N	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN			3	581	+			82			Arf-GAP.		Q8N4Q6|Q96SD5	Silent	SNP	ENST00000330889.3	37	c.246C>T	CCDS11261.1																																																																																				0.478	ADAP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256346.1	NM_018404		14	38	0	0	0	1	0	14	38				
LMTK2	22853	broad.mit.edu	37	7	97821023	97821023	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr7:97821023C>T	ENST00000297293.5	+	11	1539	c.1246C>T	c.(1246-1248)Cgg>Tgg	p.R416W		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	416					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GCAGAGCCAGCGGGACTCAGA	0.537																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(1246-1248)Cgg>Tgg		lemur tyrosine kinase 2							73.0	65.0	68.0					7																	97821023		2203	4300	6503	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97821023C>T	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.1246C>T	7.37:g.97821023C>T	ENSP00000297293:p.Arg416Trp						p.R416W	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			11	1539	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		416					A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.1246C>T	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.100639	0.76983	.	.	ENSG00000164715	ENST00000297293	T	0.62639	0.01	5.41	3.29	0.37713	Protein kinase-like domain (1);	0.051860	0.85682	D	0.000000	T	0.74824	0.3767	M	0.68317	2.08	0.40560	D	0.981205	D	0.89917	1.0	D	0.71414	0.973	T	0.76833	-0.2813	10	0.72032	D	0.01	.	12.4478	0.55662	0.7794:0.2206:0.0:0.0	.	416	Q8IWU2	LMTK2_HUMAN	W	416	ENSP00000297293:R416W	ENSP00000297293:R416W	R	+	1	2	LMTK2	97658959	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.876000	0.56115	0.605000	0.29947	-0.181000	0.13052	CGG		0.537	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		4	48	0	0	0	1	0	4	48				
KIZ-AS1	101929591	broad.mit.edu	37	20	21143043	21143043	+	RNA	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr20:21143043G>A	ENST00000591761.1	-	0	5142				RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA																							TGAAGTTGAGGAAAAAAGAGC	0.443																																						ENST00000591761.1																			0																				36.0	39.0	38.0					20																	21143043		1858	4101	5959			101929591							g.chr20:21143043G>A																													20.37:g.21143043G>A						PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA								0	5142	-									RNA	SNP	ENST00000591761.1	37																																																																																						0.443	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			6	16	0	0	0	1	0	6	16				
PPP1R12B	4660	broad.mit.edu	37	1	202407199	202407199	+	Intron	SNP	T	T	C			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr1:202407199T>C	ENST00000608999.1	+	10	1611				PPP1R12B_ENST00000356764.2_3'UTR|PPP1R12B_ENST00000480184.1_Missense_Mutation_p.F502S|PPP1R12B_ENST00000336894.4_Intron|RP11-175B9.2_ENST00000602961.1_RNA	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			GTTTTTTTTTTCCATGAAAAT	0.388																																						ENST00000480184.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41						c.(1504-1506)tTc>tCc		protein phosphatase 1, regulatory subunit 12B							23.0	25.0	25.0					1																	202407199		2175	4297	6472	SO:0001627	intron_variant	4660				regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	g.chr1:202407199T>C	AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.1458+47T>C	1.37:g.202407199T>C						PPP1R12B_ENST00000336894.4_Intron|PPP1R12B_ENST00000356764.2_3'UTR|PPP1R12B_ENST00000406302.3_Intron	p.F502S	NM_001167857.1	NP_001161329.1	O60237	MYPT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		10	1637	+			502					A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Missense_Mutation	SNP	ENST00000608999.1	37	c.1505T>C	CCDS1426.1	.	.	.	.	.	.	.	.	.	.	T	8.972	0.973107	0.18736	.	.	ENSG00000077157	ENST00000480184	T	0.68903	-0.36	5.09	2.74	0.32292	.	.	.	.	.	T	0.46776	0.1410	.	.	.	0.09310	N	1	B	0.19583	0.037	B	0.14023	0.01	T	0.27054	-1.0085	7	.	.	.	.	5.4205	0.16398	0.0:0.0904:0.1746:0.735	.	502	Q2TAI8	.	S	502	ENSP00000417159:F502S	.	F	+	2	0	PPP1R12B	200673822	0.000000	0.05858	0.002000	0.10522	0.016000	0.09150	0.613000	0.24299	0.370000	0.24538	-0.274000	0.10170	TTC		0.388	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3	NM_032105		14	35	0	0	0	1	0	14	35				
CCNB3	85417	broad.mit.edu	37	X	50053854	50053854	+	Silent	SNP	T	T	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chrX:50053854T>G	ENST00000376042.1	+	6	2983	c.2685T>G	c.(2683-2685)tcT>tcG	p.S895S	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.S895S|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	895					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TCAAGGAGTCTTTGGACTTGC	0.502																																						ENST00000376042.1																			0				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(2683-2685)tcT>tcG		cyclin B3							63.0	55.0	58.0					X																	50053854		2203	4300	6503	SO:0001819	synonymous_variant	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50053854T>G	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.2685T>G	X.37:g.50053854T>G						CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.S895S	p.S895S			Q8WWL7	CCNB3_HUMAN			6	2983	+	Ovarian(276;0.236)		895					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Silent	SNP	ENST00000376042.1	37	c.2685T>G	CCDS14331.1																																																																																				0.502	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			11	11	0	0	0	1	0	11	11				
SERINC2	347735	broad.mit.edu	37	1	31896555	31896555	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr1:31896555G>A	ENST00000373709.3	+	2	205	c.55G>A	c.(55-57)Ggc>Agc	p.G19S	SERINC2_ENST00000536859.1_Missense_Mutation_p.G23S|SERINC2_ENST00000373710.1_Missense_Mutation_p.G28S|SERINC2_ENST00000536384.1_Missense_Mutation_p.G23S|SERINC2_ENST00000491976.1_3'UTR	NM_178865.4	NP_849196.2	Q96SA4	SERC2_HUMAN	serine incorporator 2	19					phosphatidylserine metabolic process (GO:0006658)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	L-serine transmembrane transporter activity (GO:0015194)			cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		CTGCCTCTGCGGCTCTGCCCC	0.677																																						ENST00000373710.1																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12						c.(82-84)Ggc>Agc		serine incorporator 2							38.0	38.0	38.0					1																	31896555		2203	4299	6502	SO:0001583	missense	347735					integral to membrane		g.chr1:31896555G>A	AY094595	CCDS30662.1, CCDS55583.1, CCDS55584.1, CCDS55585.1	1p35.1	2008-02-05	2005-11-01	2005-11-01	ENSG00000168528	ENSG00000168528			23231	protein-coding gene	gene with protein product		614549	"""tumor differentially expressed 2-like"""	TDE2L		12949800	Standard	NM_178865		Approved	FKSG84, PRO0899, TDE2	uc010ogh.2	Q96SA4	OTTHUMG00000003796	ENST00000373709.3:c.55G>A	1.37:g.31896555G>A	ENSP00000362813:p.Gly19Ser					SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000536384.1_Missense_Mutation_p.G23S|SERINC2_ENST00000373709.3_Missense_Mutation_p.G19S|SERINC2_ENST00000536859.1_Missense_Mutation_p.G23S	p.G28S	NM_001199038.1	NP_001185967.1	Q96SA4	SERC2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)	3	355	+		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)	19					A0AVB4|B4DJK5|B7Z567|B7ZAP2|E7EUZ9|Q86Y23	Missense_Mutation	SNP	ENST00000373709.3	37	c.82G>A	CCDS30662.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.573214	0.86542	.	.	ENSG00000168528	ENST00000373710;ENST00000536859;ENST00000373709;ENST00000536384	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.40767	0.1130	M	0.62016	1.91	0.80722	D	1	D;D;D;D	0.76494	0.99;0.99;0.99;0.999	P;P;P;P	0.61275	0.832;0.832;0.832;0.886	T	0.06232	-1.0838	10	0.29301	T	0.29	-38.2544	17.9011	0.88904	0.0:0.0:1.0:0.0	.	23;28;23;19	B4DJK5;E7EUZ9;B7Z567;Q96SA4	.;.;.;SERC2_HUMAN	S	28;23;19;23	ENSP00000362814:G28S;ENSP00000444307:G23S;ENSP00000362813:G19S;ENSP00000439048:G23S	ENSP00000362813:G19S	G	+	1	0	SERINC2	31669142	1.000000	0.71417	0.996000	0.52242	0.950000	0.60333	6.537000	0.73847	2.567000	0.86603	0.655000	0.94253	GGC		0.677	SERINC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010680.1	NM_018565		27	18	0	0	0	1	0	27	18				
IGSF9	57549	broad.mit.edu	37	1	159904572	159904572	+	Silent	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr1:159904572G>A	ENST00000368094.1	-	7	911	c.714C>T	c.(712-714)gtC>gtT	p.V238V	IGSF9_ENST00000361509.3_Silent_p.V238V|IGSF9_ENST00000493195.1_5'Flank	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	238	Ig-like 3.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GGGAGGCATTGACTGTGCTGT	0.562																																						ENST00000368094.1																			0				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(712-714)gtC>gtT		immunoglobulin superfamily, member 9							111.0	93.0	99.0					1																	159904572		2203	4300	6503	SO:0001819	synonymous_variant	57549					cell junction|integral to membrane|synapse		g.chr1:159904572G>A	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.714C>T	1.37:g.159904572G>A						IGSF9_ENST00000361509.3_Silent_p.V238V	p.V238V	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		7	911	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	238			Ig-like 3.			Silent	SNP	ENST00000368094.1	37	c.714C>T	CCDS44254.1																																																																																				0.562	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		10	55	0	0	0	1	0	10	55				
TRAPPC13	80006	broad.mit.edu	37	5	64946652	64946652	+	Silent	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr5:64946652G>A	ENST00000399438.3	+	6	789	c.444G>A	c.(442-444)gtG>gtA	p.V148V	TRAPPC13_ENST00000505553.1_Silent_p.V148V|TRAPPC13_ENST00000438419.2_Silent_p.V148V|TRAPPC13_ENST00000231526.4_Silent_p.V148V|TRAPPC13_ENST00000545191.1_Silent_p.V148V	NM_001093755.1|NM_024941.3	NP_001087224.1|NP_079217.2	A5PLN9	TPC13_HUMAN	trafficking protein particle complex 13	148																	TATGTGCTGTGAGTTATACAA	0.289																																						ENST00000399438.3																			0											c.(442-444)gtG>gtA		trafficking protein particle complex 13							71.0	67.0	68.0					5																	64946652		1795	4065	5860	SO:0001819	synonymous_variant	80006							g.chr5:64946652G>A		CCDS47221.1, CCDS47222.1, CCDS47223.1, CCDS58950.1	5q12.3	2013-01-31	2013-01-24	2013-01-24	ENSG00000113597	ENSG00000113597			25828	protein-coding gene	gene with protein product	"""Trs65-related"""		"""chromosome 5 open reading frame 44"""	C5orf44		12477932	Standard	NM_024941		Approved	FLJ13611, FLJ26957, MGC48585	uc010iwu.1	A5PLN9	OTTHUMG00000163649	ENST00000399438.3:c.444G>A	5.37:g.64946652G>A						TRAPPC13_ENST00000545191.1_Silent_p.V148V|TRAPPC13_ENST00000231526.4_Silent_p.V148V|TRAPPC13_ENST00000505553.1_Silent_p.V148V|TRAPPC13_ENST00000438419.2_Silent_p.V148V	p.V148V	NM_001093755.1|NM_024941.3	NP_001087224.1|NP_079217.2					6	789	+								Q17RZ9|Q49A23|Q4JHG0|Q6MZG4|Q8TCM2|Q9H8I3	Silent	SNP	ENST00000399438.3	37	c.444G>A	CCDS47222.1																																																																																				0.289	TRAPPC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370113.1	NM_024941		17	8	0	0	0	1	0	17	8				
LMOD2	442721	broad.mit.edu	37	7	123302785	123302785	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr7:123302785G>C	ENST00000458573.2	+	2	1302	c.1145G>C	c.(1144-1146)aGa>aCa	p.R382T	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	382						cytoskeleton (GO:0005856)											GTCTGGCAAAGAGGAACACCT	0.488																																						ENST00000458573.2																			0											c.(1144-1146)aGa>aCa		leiomodin 2 (cardiac)							128.0	124.0	125.0					7																	123302785		1965	4169	6134	SO:0001583	missense	442721					cytoskeleton	actin binding|tropomyosin binding	g.chr7:123302785G>C	AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.1145G>C	7.37:g.123302785G>C	ENSP00000411932:p.Arg382Thr					LMOD2_ENST00000456238.2_Intron	p.R382T	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN			2	1302	+			382					A4D0W9|A4D0Y2|Q8WVJ8	Missense_Mutation	SNP	ENST00000458573.2	37	c.1145G>C	CCDS47693.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.017223	0.35606	.	.	ENSG00000170807	ENST00000458573;ENST00000444702;ENST00000332074	D	0.91351	-2.83	5.11	5.11	0.69529	.	.	.	.	.	D	0.86251	0.5888	M	0.62723	1.935	0.80722	D	1	P	0.43094	0.799	B	0.38378	0.272	T	0.82653	-0.0351	9	0.12766	T	0.61	.	10.2191	0.43186	0.1244:0.0:0.8756:0.0	.	382	Q6P5Q4	LMOD2_HUMAN	T	382;342;353	ENSP00000411932:R382T	ENSP00000405123:R353T	R	+	2	0	LMOD2	123090021	0.999000	0.42202	0.984000	0.44739	0.947000	0.59692	2.430000	0.44766	2.539000	0.85634	0.313000	0.20887	AGA		0.488	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348525.1			39	74	0	0	0	1	0	39	74				
ZNF354A	6940	broad.mit.edu	37	5	178139206	178139206	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr5:178139206G>C	ENST00000335815.2	-	5	1870	c.1673C>G	c.(1672-1674)aCt>aGt	p.T558S		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	558					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|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)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		TTGTCTAAAAGTTTTTCCACA	0.373																																						ENST00000335815.2																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19						c.(1672-1674)aCt>aGt		zinc finger protein 354A							100.0	97.0	98.0					5																	178139206		2203	4300	6503	SO:0001583	missense	6940				regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178139206G>C	AF116030	CCDS4438.1	5q35.3	2013-01-08		2001-11-23	ENSG00000169131	ENSG00000169131		"""Zinc fingers, C2H2-type"", ""-"""	11628	protein-coding gene	gene with protein product		602444		TCF17		9465904	Standard	NM_005649		Approved	KID-1, EZNF, HKL1, KID1	uc003mjj.3	O60765	OTTHUMG00000130895	ENST00000335815.2:c.1673C>G	5.37:g.178139206G>C	ENSP00000337122:p.Thr558Ser						p.T558S	NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)	5	1870	-	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	558					Q9UNJ8	Missense_Mutation	SNP	ENST00000335815.2	37	c.1673C>G	CCDS4438.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550617	0.45383	.	.	ENSG00000169131	ENST00000335815	T	0.01005	5.45	4.96	4.08	0.47627	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33916	N	0.004438	T	0.00608	0.0020	N	0.04655	-0.195	0.26127	N	0.980473	B	0.26775	0.159	B	0.24848	0.056	T	0.50516	-0.8819	10	0.25106	T	0.35	-4.9355	8.4764	0.33016	0.0:0.1694:0.6552:0.1754	.	558	O60765	Z354A_HUMAN	S	558	ENSP00000337122:T558S	ENSP00000337122:T558S	T	-	2	0	ZNF354A	178071812	0.000000	0.05858	0.993000	0.49108	0.993000	0.82548	0.167000	0.16602	1.427000	0.47276	0.650000	0.86243	ACT		0.373	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253481.1	NM_005649		49	29	0	0	0	1	0	49	29				
KLF15	28999	broad.mit.edu	37	3	126062647	126062647	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr3:126062647G>A	ENST00000296233.3	-	3	1404	c.1174C>T	c.(1174-1176)Cgg>Tgg	p.R392W		NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	392					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to peptide (GO:1901653)|glial cell differentiation (GO:0010001)|glomerular visceral epithelial cell differentiation (GO:0072112)|glucose transport (GO:0015758)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		TGGTCGCTCCGCGCGAACTTC	0.652																																						ENST00000296233.3																			0				endometrium(1)|lung(7)|ovary(2)|skin(2)	12						c.(1174-1176)Cgg>Tgg		Kruppel-like factor 15							55.0	49.0	51.0					3																	126062647		2203	4300	6503	SO:0001583	missense	28999					nucleus	DNA binding|zinc ion binding	g.chr3:126062647G>A	AB029254	CCDS3036.1	3q21.3	2013-01-08			ENSG00000163884	ENSG00000163884		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	14536	protein-coding gene	gene with protein product	"""kidney-enriched Kruppel-like factor"""	606465				10982849	Standard	NM_014079		Approved	KKLF	uc011bkk.1	Q9UIH9	OTTHUMG00000162689	ENST00000296233.3:c.1174C>T	3.37:g.126062647G>A	ENSP00000296233:p.Arg392Trp						p.R392W	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN		GBM - Glioblastoma multiforme(114;0.147)	3	1404	-			392						Missense_Mutation	SNP	ENST00000296233.3	37	c.1174C>T	CCDS3036.1	.	.	.	.	.	.	.	.	.	.	G	35	5.468049	0.96257	.	.	ENSG00000163884	ENST00000296233	T	0.71698	-0.59	5.29	5.29	0.74685	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.81908	0.4922	L	0.58302	1.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83633	0.0146	10	0.87932	D	0	.	16.4317	0.83847	0.0:0.0:1.0:0.0	.	392	Q9UIH9	KLF15_HUMAN	W	392	ENSP00000296233:R392W	ENSP00000296233:R392W	R	-	1	2	KLF15	127545337	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.758000	0.85224	2.469000	0.83416	0.491000	0.48974	CGG		0.652	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370096.1	NM_014079		8	17	0	0	0	1	0	8	17				
RNF213	57674	broad.mit.edu	37	17	78355470	78355470	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr17:78355470G>A	ENST00000582970.1	+	57	14064	c.13921G>A	c.(13921-13923)Gtg>Atg	p.V4641M	CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.V4690M|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.V2714M	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4641					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GACCATCGGCGTGGTCCACCT	0.597																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(13921-13923)Gtg>Atg		ring finger protein 213							79.0	63.0	68.0					17																	78355470		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78355470G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.13921G>A	17.37:g.78355470G>A	ENSP00000464087:p.Val4641Met					RNF213_ENST00000508628.2_Missense_Mutation_p.V4690M|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.V2714M|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA	p.V4641M	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		57	14064	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.13921G>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	7.485	0.649556	0.14516	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.55930	0.49	5.2	4.23	0.50019	.	0.775582	0.11965	N	0.512344	T	0.44726	0.1307	M	0.64404	1.975	0.09310	N	1	P;P	0.52170	0.951;0.685	B;B	0.36922	0.236;0.089	T	0.33828	-0.9853	10	0.33940	T	0.23	.	8.2515	0.31724	0.1817:0.0:0.8183:0.0	.	4690;2714	C9JCP4;Q63HN8	.;RN213_HUMAN	M	4641;4690;2714	ENSP00000338218:V2714M	ENSP00000338218:V2714M	V	+	1	0	RNF213	75970065	0.033000	0.19621	0.039000	0.18376	0.009000	0.06853	1.752000	0.38349	1.184000	0.42957	0.655000	0.94253	GTG		0.597	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		6	34	0	0	0	1	0	6	34				
RYR1	6261	broad.mit.edu	37	19	39023129	39023129	+	Splice_Site	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr19:39023129G>A	ENST00000359596.3	+	77	11141		c.e77-1		RYR1_ENST00000355481.4_Splice_Site|RYR1_ENST00000360985.3_Splice_Site			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)						calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TACTTCCCCAGCAAACTGGAT	0.567																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.e76-1		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						103.0	90.0	95.0					19																	39023129		2203	4300	6503	SO:0001630	splice_region_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39023129G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.11142-1G>A	19.37:g.39023129G>A						RYR1_ENST00000360985.3_Splice_Site|RYR1_ENST00000359596.3_Splice_Site		NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		76	11257	+	all_cancers(60;7.91e-06)							Q16314|Q16368|Q9NPK1|Q9P1U4	Splice_Site	SNP	ENST00000359596.3	37		CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628424	0.87560	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4781	0.87666	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RYR1	43714969	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.268000	0.95675	2.671000	0.90904	0.655000	0.94253	.		0.567	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		Intron	3	30	0	0	0	1	0	3	30				
KRT81	3887	broad.mit.edu	37	12	52685196	52685196	+	Silent	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr12:52685196G>A	ENST00000327741.5	-	1	122	c.54C>T	c.(52-54)tgC>tgT	p.C18C	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	18	Head.					extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCGCGGCCCGCAGGCCGAGA	0.692																																						ENST00000327741.5																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16						c.(52-54)tgC>tgT		keratin 81							15.0	20.0	18.0					12																	52685196		2185	4231	6416	SO:0001819	synonymous_variant	3887					keratin filament	protein binding|structural molecule activity	g.chr12:52685196G>A	X81420	CCDS31805.1	12q13	2013-01-16	2006-07-17	2006-07-17	ENSG00000205426	ENSG00000205426		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6458	protein-coding gene	gene with protein product	"""hard keratin type II 1"""	602153	"""keratin, hair, basic, 1"""	KRTHB1		7556444, 16831889	Standard	NM_002281		Approved	Hb-1	uc001sab.3	Q14533	OTTHUMG00000167574	ENST00000327741.5:c.54C>T	12.37:g.52685196G>A						KRT86_ENST00000544024.1_Intron|KRT86_ENST00000423955.2_Intron	p.C18C	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	122	-			18			Head.		Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Silent	SNP	ENST00000327741.5	37	c.54C>T	CCDS31805.1																																																																																				0.692	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395128.2	NM_002281		14	17	0	0	0	1	0	14	17				
KLF12	11278	broad.mit.edu	37	13	74420023	74420023	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr13:74420023C>G	ENST00000377669.2	-	3	637	c.611G>C	c.(610-612)gGa>gCa	p.G204A	KLF12_ENST00000472022.1_5'UTR|KLF12_ENST00000377666.4_Missense_Mutation_p.G204A	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	204					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		GTTCACATTTCCAGGTGACCT	0.468																																						ENST00000377669.2																			0				central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16						c.(610-612)gGa>gCa		Kruppel-like factor 12							132.0	110.0	117.0					13																	74420023		2203	4300	6503	SO:0001583	missense	11278				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr13:74420023C>G	AJ243274	CCDS9449.1	13q22	2013-01-08			ENSG00000118922	ENSG00000118922		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6346	protein-coding gene	gene with protein product	"""KLF12 zinc finger transcriptional repressor"", ""AP-2rep transcription factor"", ""AP-2 repressor"""	607531				10704285	Standard	NM_007249		Approved	AP-2rep, HSPC122, AP2REP	uc001vjf.3	Q9Y4X4	OTTHUMG00000017078	ENST00000377669.2:c.611G>C	13.37:g.74420023C>G	ENSP00000366897:p.Gly204Ala					KLF12_ENST00000472022.1_5'UTR|KLF12_ENST00000377666.4_Missense_Mutation_p.G204A	p.G204A	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN		GBM - Glioblastoma multiforme(99;0.00677)	3	637	-		Prostate(6;0.00217)|Breast(118;0.0838)	204					A8K5T2|L0R3J4|Q5VZM7|Q9UHZ0	Missense_Mutation	SNP	ENST00000377669.2	37	c.611G>C	CCDS9449.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.760356	0.49468	.	.	ENSG00000118922	ENST00000377669;ENST00000342812;ENST00000377666	T;T	0.01379	4.96;4.96	6.02	6.02	0.97574	.	0.229259	0.45126	D	0.000385	T	0.02380	0.0073	L	0.46157	1.445	0.47949	D	0.999556	B	0.32302	0.363	B	0.28916	0.096	T	0.62793	-0.6779	10	0.36615	T	0.2	.	19.1188	0.93353	0.0:1.0:0.0:0.0	.	204	Q9Y4X4	KLF12_HUMAN	A	204	ENSP00000366897:G204A;ENSP00000366894:G204A	ENSP00000344057:G204A	G	-	2	0	KLF12	73318024	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.632000	0.61311	2.865000	0.98341	0.655000	0.94253	GGA		0.468	KLF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045271.2	NM_007249		41	59	0	0	0	1	0	41	59				
ACADVL	37	broad.mit.edu	37	17	7122262	7122262	+	5'Flank	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr17:7122262G>A	ENST00000356839.5	+	0	0				DLG4_ENST00000399510.2_De_novo_Start_OutOfFrame|ACADVL_ENST00000350303.5_5'Flank|ACADVL_ENST00000543245.2_Intron|DLG4_ENST00000399506.2_5'Flank|DLG4_ENST00000485100.1_5'Flank|DLG4_ENST00000302955.6_5'Flank	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy derivation by oxidation of organic compounds (GO:0015980)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						AAAGTAGGCCGTCTCTGAGCC	0.567																																						ENST00000399510.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18								discs, large homolog 4 (Drosophila)																																				SO:0001631	upstream_gene_variant	1742				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding	g.chr17:7122262G>A	BC012912	CCDS11090.1, CCDS42249.1, CCDS58509.1	17p13.1	2010-04-30	2010-04-30		ENSG00000072778	ENSG00000072778			92	protein-coding gene	gene with protein product		609575	"""acyl-Coenzyme A dehydrogenase, very long chain"""			8921384	Standard	NM_000018		Approved	VLCAD, LCACD, ACAD6	uc002gev.4	P49748	OTTHUMG00000102157		17.37:g.7122262G>A	Exception_encountered					ACADVL_ENST00000543245.2_Intron		NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN			0	759	-								B4DEB6|F5H2A9|O76056|Q8WUL0	Translation_Start_Site	SNP	ENST00000356839.5	37		CCDS11090.1																																																																																				0.567	ACADVL-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220001.5	NM_000018		3	11	0	0	0	1	0	3	11				
HS6ST3	266722	broad.mit.edu	37	13	97485361	97485361	+	Missense_Mutation	SNP	G	G	A	rs562169523		TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr13:97485361G>A	ENST00000376705.2	+	2	1349	c.1325G>A	c.(1324-1326)cGa>cAa	p.R442Q		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	442					heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)	integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					AGGCTGCAGCGAGAGCACAGG	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		16133	0.0		0.0	False		,,,				2504	0.001					ENST00000376705.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20						c.(1324-1326)cGa>cAa		heparan sulfate 6-O-sulfotransferase 3							46.0	53.0	51.0					13																	97485361		2203	4300	6503	SO:0001583	missense	266722					integral to membrane	sulfotransferase activity	g.chr13:97485361G>A	AF539426	CCDS9481.1	13q32.2	2007-12-04			ENSG00000185352	ENSG00000185352		"""Sulfotransferases, membrane-bound"""	19134	protein-coding gene	gene with protein product		609401					Standard	NM_153456		Approved		uc001vmw.4	Q8IZP7	OTTHUMG00000017232	ENST00000376705.2:c.1325G>A	13.37:g.97485361G>A	ENSP00000365895:p.Arg442Gln						p.R442Q	NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN			2	1349	+	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		442					Q5W0L0|Q68CW6	Missense_Mutation	SNP	ENST00000376705.2	37	c.1325G>A	CCDS9481.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359803	0.61403	.	.	ENSG00000185352	ENST00000376705	D	0.83506	-1.73	5.83	4.81	0.61882	.	0.355818	0.28921	N	0.013701	T	0.77246	0.4102	L	0.60455	1.87	0.33585	D	0.600402	D	0.53462	0.96	B	0.37198	0.243	D	0.84454	0.0590	10	0.41790	T	0.15	-14.0872	13.5367	0.61650	0.1274:0.0:0.8726:0.0	.	442	Q8IZP7	H6ST3_HUMAN	Q	442	ENSP00000365895:R442Q	ENSP00000365895:R442Q	R	+	2	0	HS6ST3	96283362	1.000000	0.71417	0.998000	0.56505	0.888000	0.51559	6.506000	0.73712	2.758000	0.94735	0.561000	0.74099	CGA		0.612	HS6ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045517.2	NM_153456		17	25	0	0	0	1	0	17	25				
PREX1	57580	broad.mit.edu	37	20	47266017	47266017	+	Silent	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr20:47266017G>A	ENST00000371941.3	-	25	3148	c.3126C>T	c.(3124-3126)ggC>ggT	p.G1042G	PREX1_ENST00000396220.1_Silent_p.G1042G	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1042					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGAGACCCTGGCCTTGGGGAT	0.627																																						ENST00000396220.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(3124-3126)ggC>ggT		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1							58.0	52.0	54.0					20																	47266017		2203	4300	6503	SO:0001819	synonymous_variant	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47266017G>A	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.3126C>T	20.37:g.47266017G>A						PREX1_ENST00000371941.3_Silent_p.G1042G	p.G1042G			Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		25	3148	-			1042					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Silent	SNP	ENST00000371941.3	37	c.3126C>T	CCDS13410.1																																																																																				0.627	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		19	20	0	0	0	1	0	19	20				
TRPV6	55503	broad.mit.edu	37	7	142575027	142575027	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr7:142575027T>A	ENST00000359396.3	-	4	600	c.355A>T	c.(355-357)Act>Tct	p.T119S	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	119					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TGCAGTGCAGTCTGACCTGGC	0.617																																						ENST00000359396.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42						c.(355-357)Act>Tct		transient receptor potential cation channel, subfamily V, member 6							75.0	71.0	72.0					7																	142575027		2203	4300	6503	SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142575027T>A	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.355A>T	7.37:g.142575027T>A	ENSP00000352358:p.Thr119Ser					RP11-114L10.2_ENST00000438839.1_RNA	p.T119S	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN			4	600	-	Melanoma(164;0.059)		119					A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.355A>T	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	T	17.41	3.381481	0.61845	.	.	ENSG00000165125	ENST00000359396;ENST00000431833	T;T	0.73681	-0.77;-0.15	3.86	3.86	0.44501	Ankyrin repeat-containing domain (4);	0.104471	0.64402	D	0.000004	T	0.73133	0.3548	M	0.72624	2.21	0.80722	D	1	P	0.40534	0.72	B	0.42361	0.385	T	0.71248	-0.4649	10	0.25106	T	0.35	-15.1726	12.0125	0.53295	0.0:0.0:0.0:1.0	.	119	Q9H1D0	TRPV6_HUMAN	S	119;46	ENSP00000352358:T119S;ENSP00000415917:T46S	ENSP00000352358:T119S	T	-	1	0	TRPV6	142285149	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.753000	0.62183	1.624000	0.50355	0.533000	0.62120	ACT		0.617	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		8	70	0	0	0	1	0	8	70				
LOC442028	442028	broad.mit.edu	37	2	95552820	95552820	+	RNA	SNP	C	C	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr2:95552820C>G	ENST00000568768.1	-	0	476																											GTCTGGTATTCAAATTCAAAA	0.358																																						ENST00000568768.1																			0																																																			442028							g.chr2:95552820C>G																													2.37:g.95552820C>G														0	476	-									RNA	SNP	ENST00000568768.1	37																																																																																						0.358	AC097374.2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000431504.1			9	31	0	0	0	1	0	9	31				
CAPRIN2	65981	broad.mit.edu	37	12	30881780	30881780	+	Silent	SNP	T	T	C			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr12:30881780T>C	ENST00000395805.2	-	8	2131	c.1584A>G	c.(1582-1584)tcA>tcG	p.S528S	CAPRIN2_ENST00000308433.5_Silent_p.S195S|CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000417045.1_Silent_p.S528S|CAPRIN2_ENST00000298892.5_Silent_p.S528S|CAPRIN2_ENST00000251071.5_Silent_p.S528S	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GAGTGGTCCATGACTTGGTGG	0.453																																						ENST00000251071.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48						c.(1582-1584)tcA>tcG		caprin family member 2							224.0	213.0	217.0					12																	30881780		2203	4300	6503	SO:0001819	synonymous_variant	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30881780T>C	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.1584A>G	12.37:g.30881780T>C						CAPRIN2_ENST00000298892.5_Silent_p.S528S|CAPRIN2_ENST00000308433.5_Silent_p.S195S|CAPRIN2_ENST00000417045.1_Silent_p.S528S|CAPRIN2_ENST00000395805.2_Silent_p.S528S|CAPRIN2_ENST00000538387.1_5'UTR	p.S528S	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN			8	2334	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		528						Silent	SNP	ENST00000395805.2	37	c.1584A>G	CCDS55816.1																																																																																				0.453	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925		67	190	0	0	0	1	0	67	190				
LINGO4	339398	broad.mit.edu	37	1	151774826	151774826	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr1:151774826G>A	ENST00000368820.3	-	2	1292	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	119						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ATTCTGAGCCGATTGCCCTGC	0.577																																						ENST00000368820.3																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(355-357)Cgg>Tgg		leucine rich repeat and Ig domain containing 4							74.0	71.0	72.0					1																	151774826		2203	4300	6503	SO:0001583	missense	339398					integral to membrane		g.chr1:151774826G>A		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.355C>T	1.37:g.151774826G>A	ENSP00000357810:p.Arg119Trp						p.R119W	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	1292	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		119						Missense_Mutation	SNP	ENST00000368820.3	37	c.355C>T	CCDS30855.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.129693	0.56721	.	.	ENSG00000213171	ENST00000368820	T	0.60040	0.22	5.13	3.06	0.35304	.	0.000000	0.43919	D	0.000517	T	0.68072	0.2961	M	0.86343	2.81	0.46241	D	0.998942	D	0.89917	1.0	D	0.79784	0.993	T	0.72279	-0.4340	10	0.87932	D	0	.	7.2625	0.26212	0.0:0.155:0.4893:0.3557	.	119	Q6UY18	LIGO4_HUMAN	W	119	ENSP00000357810:R119W	ENSP00000357810:R119W	R	-	1	2	LINGO4	150041450	1.000000	0.71417	0.977000	0.42913	0.996000	0.88848	2.188000	0.42612	1.352000	0.45808	0.462000	0.41574	CGG		0.577	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	XM_291387		10	68	0	0	0	1	0	10	68				
WDR34	89891	broad.mit.edu	37	9	131396039	131396039	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr9:131396039G>T	ENST00000372715.2	-	9	1655	c.1595C>A	c.(1594-1596)gCa>gAa	p.A532E	WDR34_ENST00000483181.1_5'Flank	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	532						axoneme (GO:0005930)|centriole (GO:0005814)|ciliary basal body (GO:0036064)				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						CGCCACCTCTGCTGCCAGGCA	0.627																																						ENST00000372715.2																			0				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						c.(1594-1596)gCa>gAa		WD repeat domain 34							84.0	105.0	98.0					9																	131396039		2203	4299	6502	SO:0001583	missense	89891					cytoplasm		g.chr9:131396039G>T	BC011874	CCDS6906.2	9q34.11	2013-11-15	2013-02-19	2013-02-19	ENSG00000119333	ENSG00000119333		"""WD repeat domain containing"""	28296	protein-coding gene	gene with protein product		613363				19521662, 21953912, 24183451	Standard	NM_052844		Approved	DIC5, MGC20486, bA216B9.3, FAP133	uc004bvq.1	Q96EX3	OTTHUMG00000020750	ENST00000372715.2:c.1595C>A	9.37:g.131396039G>T	ENSP00000361800:p.Ala532Glu						p.A532E	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN			9	1655	-			532					Q5VXV4|Q9BV46	Missense_Mutation	SNP	ENST00000372715.2	37	c.1595C>A	CCDS6906.2	.	.	.	.	.	.	.	.	.	.	G	6.789	0.514572	0.12944	.	.	ENSG00000119333	ENST00000372715	T	0.63913	-0.07	5.42	0.116	0.14647	.	0.500458	0.22798	N	0.055513	T	0.39860	0.1094	L	0.31664	0.95	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.22208	-1.0223	10	0.52906	T	0.07	-4.0414	0.4688	0.00528	0.2372:0.2139:0.3158:0.233	.	532	Q96EX3	WDR34_HUMAN	E	532	ENSP00000361800:A532E	ENSP00000361800:A532E	A	-	2	0	WDR34	130435860	0.015000	0.18098	0.000000	0.03702	0.136000	0.21042	0.641000	0.24720	0.022000	0.15160	-0.258000	0.10820	GCA		0.627	WDR34-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054463.1	NM_052844		76	125	1	0	3.27973e-32	1	3.767e-32	76	125				
SUCO	51430	broad.mit.edu	37	1	172555026	172555026	+	Silent	SNP	T	T	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr1:172555026T>G	ENST00000263688.3	+	17	1815	c.1596T>G	c.(1594-1596)acT>acG	p.T532T	SUCO_ENST00000608151.1_Silent_p.T684T|SUCO_ENST00000367723.4_Silent_p.T683T|SUCO_ENST00000610051.1_Silent_p.T495T	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	532					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											AGAATGCCACTGCCACAGCTG	0.323																																						ENST00000367723.3																			0											c.(2050-2052)acT>acG		SUN domain containing ossification factor							156.0	172.0	166.0					1																	172555026		2203	4300	6503	SO:0001819	synonymous_variant	51430							g.chr1:172555026T>G	AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.1596T>G	1.37:g.172555026T>G						SUCO_ENST00000263688.3_Silent_p.T532T	p.T684T	NM_016227.2	NP_057311.2					16	2176	+								B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Silent	SNP	ENST00000263688.3	37	c.2052T>G	CCDS1303.1																																																																																				0.323	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227		66	113	0	0	0	1	0	66	113				
LAMA1	284217	broad.mit.edu	37	18	7050890	7050890	+	Nonsense_Mutation	SNP	G	G	A	rs570589347		TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr18:7050890G>A	ENST00000389658.3	-	4	484	c.391C>T	c.(391-393)Cga>Tga	p.R131*		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	131	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TTTCCAGGTCGAGGGGCATTG	0.468																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(391-393)Cga>Tga		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						72.0	62.0	65.0					18																	7050890		2203	4300	6503	SO:0001587	stop_gained	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7050890G>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.391C>T	18.37:g.7050890G>A	ENSP00000374309:p.Arg131*						p.R131*	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			4	484	-		Colorectal(10;0.172)	131			Laminin N-terminal.			Nonsense_Mutation	SNP	ENST00000389658.3	37	c.391C>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	38	6.779697	0.97833	.	.	ENSG00000101680	ENST00000389658	.	.	.	5.96	3.08	0.35506	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.334	0.74238	0.0:0.0:0.6622:0.3378	.	.	.	.	X	131	.	ENSP00000374309:R131X	R	-	1	2	LAMA1	7040890	1.000000	0.71417	0.687000	0.30102	0.979000	0.70002	3.597000	0.54031	0.350000	0.24002	0.655000	0.94253	CGA		0.468	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		30	52	0	0	0	1	0	30	52				
SIPA1L2	57568	broad.mit.edu	37	1	232561495	232561495	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr1:232561495C>G	ENST00000366630.1	-	17	4828	c.4470G>C	c.(4468-4470)gaG>gaC	p.E1490D	SIPA1L2_ENST00000308942.4_Missense_Mutation_p.E564D|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.E1490D			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1490					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.E1490D(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TGCAGATGCTCTCGTCAGACA	0.552																																						ENST00000366630.1																			1	Substitution - Missense(1)	p.E1490D(1)	lung(1)	NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(4468-4470)gaG>gaC		signal-induced proliferation-associated 1 like 2							70.0	83.0	78.0					1																	232561495		2181	4283	6464	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232561495C>G	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.4470G>C	1.37:g.232561495C>G	ENSP00000355589:p.Glu1490Asp					SIPA1L2_ENST00000262861.4_Missense_Mutation_p.E1490D|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.E564D	p.E1490D			Q9P2F8	SI1L2_HUMAN			17	4828	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	1490					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.4470G>C	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670401	0.67814	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	T;T;T	0.59364	0.27;0.27;0.27	5.66	2.75	0.32379	.	0.114503	0.64402	D	0.000017	T	0.71558	0.3354	M	0.76170	2.325	0.41995	D	0.990864	D;D	0.71674	0.996;0.998	D;D	0.77557	0.924;0.99	T	0.73257	-0.4040	10	0.87932	D	0	-44.1837	9.3019	0.37851	0.0:0.6432:0.0:0.3568	.	1490;564	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	D	1490;1490;564	ENSP00000355589:E1490D;ENSP00000262861:E1490D;ENSP00000309102:E564D	ENSP00000262861:E1490D	E	-	3	2	SIPA1L2	230628118	0.977000	0.34250	0.997000	0.53966	0.694000	0.40290	0.250000	0.18235	0.864000	0.35578	0.650000	0.86243	GAG		0.552	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		16	18	0	0	0	1	0	16	18				
GRIA2	2891	broad.mit.edu	37	4	158254041	158254041	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr4:158254041G>T	ENST00000264426.9	+	7	1232	c.953G>T	c.(952-954)aGa>aTa	p.R318I	GRIA2_ENST00000393815.2_Missense_Mutation_p.R271I|GRIA2_ENST00000296526.7_Missense_Mutation_p.R318I|GRIA2_ENST00000507898.1_Missense_Mutation_p.R271I|GRIA2_ENST00000449365.1_Missense_Mutation_p.R271I	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	318					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	AGGAAGCAAAGAATTGAAATC	0.483																																						ENST00000296526.7																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(952-954)aGa>aTa		glutamate receptor, ionotropic, AMPA 2	L-Glutamic Acid(DB00142)						82.0	90.0	87.0					4																	158254041		2203	4299	6502	SO:0001583	missense	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158254041G>T		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.953G>T	4.37:g.158254041G>T	ENSP00000264426:p.Arg318Ile					GRIA2_ENST00000507898.1_Missense_Mutation_p.R271I|GRIA2_ENST00000393815.2_Missense_Mutation_p.R271I|GRIA2_ENST00000449365.1_Missense_Mutation_p.R271I|GRIA2_ENST00000264426.9_Missense_Mutation_p.R318I	p.R318I	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	7	1278	+	all_hematologic(180;0.24)	Renal(120;0.0458)	318					A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	c.953G>T	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183355	0.78677	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91	5.09	5.09	0.68999	Extracellular ligand-binding receptor (1);	0.049966	0.85682	D	0.000000	T	0.34250	0.0891	M	0.66939	2.045	0.80722	D	1	B;P;P	0.49961	0.297;0.93;0.851	B;B;B	0.42771	0.034;0.397;0.135	T	0.37033	-0.9723	10	0.87932	D	0	.	18.4737	0.90783	0.0:0.0:1.0:0.0	.	318;318;271	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	I	271;271;318;318;271	ENSP00000426845:R271I;ENSP00000377403:R271I;ENSP00000296526:R318I;ENSP00000264426:R318I;ENSP00000389837:R271I	ENSP00000264426:R318I	R	+	2	0	GRIA2	158473491	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	6.705000	0.74644	2.341000	0.79615	0.557000	0.71058	AGA		0.483	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			27	52	1	0	2.79863e-10	1	2.97632e-10	27	52				
MTG2	26164	broad.mit.edu	37	20	60768650	60768650	+	Silent	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr20:60768650G>A	ENST00000370823.3	+	2	192	c.174G>A	c.(172-174)ccG>ccA	p.P58P	MTG2_ENST00000436421.2_Silent_p.P58P|MTG2_ENST00000536470.1_Intron	NM_015666.3	NP_056481.1	Q9H4K7	MTG2_HUMAN	mitochondrial ribosome-associated GTPase 2	58	Localized in the mitochondria.|Not localized in the mitochondria.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)										AGGAACTCCCGGGGAAGAAGC	0.627																																						ENST00000370823.3																			0											c.(172-174)ccG>ccA		mitochondrial ribosome-associated GTPase 2							32.0	33.0	33.0					20																	60768650		2203	4300	6503	SO:0001819	synonymous_variant	26164							g.chr20:60768650G>A	AK001603	CCDS13492.1	20q13.33	2013-05-24	2013-05-24	2013-05-24	ENSG00000101181	ENSG00000101181			16239	protein-coding gene	gene with protein product		610919	"""GTP-binding protein 5 (putative)"", ""GTP binding protein 5 (putative)"""	GTPBP5		17054726, 23396448	Standard	NM_015666		Approved	FLJ10741, dJ1005F21.2, ObgH1		Q9H4K7	OTTHUMG00000032897	ENST00000370823.3:c.174G>A	20.37:g.60768650G>A						MTG2_ENST00000536470.1_Intron|MTG2_ENST00000436421.2_Silent_p.P58P	p.P58P	NM_015666.3	NP_056481.1					2	192	+								A6NDR3|B4DR85|Q96I17|Q9NVG9|Q9UFR4	Silent	SNP	ENST00000370823.3	37	c.174G>A	CCDS13492.1																																																																																				0.627	MTG2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079989.1	NM_015666		3	25	0	0	0	1	0	3	25				
COX16	51241	broad.mit.edu	37	14	70795912	70795912	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr14:70795912T>C	ENST00000389912.6	-	3	326	c.183A>G	c.(181-183)atA>atG	p.I61M	COX16_ENST00000557612.1_5'UTR|SYNJ2BP-COX16_ENST00000555276.1_RNA	NM_016468.6	NP_057552.1	Q9P0S2	COX16_HUMAN	COX16 cytochrome c oxidase assembly homolog (S. cerevisiae)	61						integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)				large_intestine(1)|lung(2)	3						ACTCTAAAGATATTTTATTCT	0.303																																						ENST00000389912.6																			0				large_intestine(1)|lung(2)	3						c.(181-183)atA>atG		COX16 cytochrome c oxidase assembly homolog (S. cerevisiae)							64.0	68.0	67.0					14																	70795912		2197	4285	6482	SO:0001583	missense	51241							g.chr14:70795912T>C	AF151037	CCDS9802.1	14q24.2	2013-05-10	2008-08-14	2008-06-23	ENSG00000133983	ENSG00000133983			20213	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 112"""	C14orf112		11042152, 15596615	Standard	NM_016468		Approved	HSPC203		Q9P0S2	OTTHUMG00000171238	ENST00000389912.6:c.183A>G	14.37:g.70795912T>C	ENSP00000374562:p.Ile61Met					COX16_ENST00000557612.1_5'UTR|RP11-718G2.3_ENST00000555276.1_RNA	p.I61M	NM_016468.6	NP_057552.1					3	326	-								A6NDT5|A8K3X8	Missense_Mutation	SNP	ENST00000389912.6	37	c.183A>G	CCDS9802.1	.	.	.	.	.	.	.	.	.	.	T	6.724	0.502228	0.12822	.	.	ENSG00000133983	ENST00000389912	.	.	.	3.65	0.133	0.14766	.	0.230128	0.25827	U	0.028054	T	0.27027	0.0662	L	0.36672	1.1	0.27285	N	0.957992	B	0.17852	0.024	B	0.27170	0.077	T	0.12192	-1.0557	9	0.36615	T	0.2	.	2.9646	0.05903	0.2189:0.1573:0.0:0.6237	.	61	Q9P0S2	COX16_HUMAN	M	61	.	ENSP00000374562:I61M	I	-	3	3	COX16	69865665	0.654000	0.27367	0.802000	0.32245	0.185000	0.23345	-0.309000	0.08145	0.024000	0.15214	0.383000	0.25322	ATA		0.303	COX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412470.2	NM_016468		15	53	0	0	0	1	0	15	53				
SLC35F1	222553	broad.mit.edu	37	6	118596680	118596680	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr6:118596680T>G	ENST00000360388.4	+	5	897	c.696T>G	c.(694-696)atT>atG	p.I232M		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	232					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TCTATGGTATTTCTAACGTCT	0.443																																						ENST00000360388.4																			0				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(694-696)atT>atG		solute carrier family 35, member F1							106.0	106.0	106.0					6																	118596680		2203	4300	6503	SO:0001583	missense	222553				transport	integral to membrane		g.chr6:118596680T>G	BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"""Solute carriers"""	21483	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 169"""	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.696T>G	6.37:g.118596680T>G	ENSP00000353557:p.Ile232Met						p.I232M	NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN		GBM - Glioblastoma multiforme(226;0.217)	5	897	+			232					E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Missense_Mutation	SNP	ENST00000360388.4	37	c.696T>G	CCDS34524.1	.	.	.	.	.	.	.	.	.	.	T	17.25	3.341428	0.60963	.	.	ENSG00000196376	ENST00000360388	.	.	.	5.17	2.45	0.29901	.	0.050055	0.85682	D	0.000000	T	0.58090	0.2098	L	0.58510	1.815	0.52501	D	0.999955	D	0.76494	0.999	D	0.79108	0.992	T	0.60541	-0.7243	9	0.59425	D	0.04	.	8.6525	0.34044	0.0:0.7078:0.0:0.2922	.	232	Q5T1Q4	S35F1_HUMAN	M	232	.	ENSP00000353557:I232M	I	+	3	3	SLC35F1	118703373	0.996000	0.38824	0.995000	0.50966	0.969000	0.65631	0.453000	0.21811	0.439000	0.26476	-0.132000	0.14878	ATT		0.443	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044		22	34	0	0	0	1	0	22	34				
EDARADD	128178	broad.mit.edu	37	1	236572548	236572548	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr1:236572548G>A	ENST00000334232.4	+	2	261	c.94G>A	c.(94-96)Gac>Aac	p.D32N	EDARADD_ENST00000359362.5_Missense_Mutation_p.D22N	NM_145861.2	NP_665860.2	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain	32					cell differentiation (GO:0030154)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GGAAGACACAGACCCTAGCAC	0.308																																						ENST00000359362.5																			0				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12						c.(64-66)Gac>Aac		EDAR-associated death domain							136.0	138.0	137.0					1																	236572548		2203	4300	6503	SO:0001583	missense	128178				cell differentiation|signal transduction	cytoplasm		g.chr1:236572548G>A	AY028914	CCDS1610.1, CCDS31065.1	1q42.3	2013-05-22			ENSG00000186197	ENSG00000186197			14341	protein-coding gene	gene with protein product		606603				11780064	Standard	NM_145861		Approved		uc001hxu.1	Q8WWZ3	OTTHUMG00000039954	ENST00000334232.4:c.94G>A	1.37:g.236572548G>A	ENSP00000335076:p.Asp32Asn					EDARADD_ENST00000334232.4_Missense_Mutation_p.D32N	p.D22N	NM_080738.3	NP_542776.1	Q8WWZ3	EDAD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		2	278	+	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	32					A2VCK5|A8K7B5|B1AL54|B9ZVW5|Q5VYJ7	Missense_Mutation	SNP	ENST00000334232.4	37	c.64G>A	CCDS1610.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.427842	0.83667	.	.	ENSG00000186197	ENST00000439430;ENST00000334232;ENST00000359362	T;T;D	0.84516	0.44;-1.24;-1.86	5.11	5.11	0.69529	.	0.000000	0.43579	U	0.000543	D	0.89026	0.6598	M	0.70275	2.135	0.43399	D	0.995527	D;D	0.64830	0.994;0.964	P;P	0.54544	0.755;0.637	D	0.89765	0.3950	10	0.72032	D	0.01	-9.4113	14.2345	0.65916	0.0:0.0:1.0:0.0	.	22;32	A8K7B5;Q8WWZ3	.;EDAD_HUMAN	N	10;32;22	ENSP00000405815:D10N;ENSP00000335076:D32N;ENSP00000352320:D22N	ENSP00000335076:D32N	D	+	1	0	EDARADD	234639171	1.000000	0.71417	0.997000	0.53966	0.930000	0.56654	4.813000	0.62620	2.826000	0.97356	0.561000	0.74099	GAC		0.308	EDARADD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000096368.1	NM_145861		19	41	0	0	0	1	0	19	41				
CPAMD8	27151	broad.mit.edu	37	19	17088276	17088276	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr19:17088276C>G	ENST00000443236.1	-	15	1832	c.1801G>C	c.(1801-1803)Gtc>Ctc	p.V601L	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	554						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCAAGGGGGACCATGCTGGGG	0.587																																						ENST00000443236.1																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(1801-1803)Gtc>Ctc		C3 and PZP-like, alpha-2-macroglobulin domain containing 8							47.0	51.0	50.0					19																	17088276		1946	4141	6087	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17088276C>G	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.1801G>C	19.37:g.17088276C>G	ENSP00000402505:p.Val601Leu					CPAMD8_ENST00000388925.4_Intron	p.V601L	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			15	1832	-			554					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.1801G>C	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	15.22|15.22	2.769066|2.769066	0.49680|0.49680	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000291440|ENST00000443236	.|.	.|.	.|.	2.62|2.62	2.62|2.62	0.31277|0.31277	Alpha-2-macroglobulin, N-terminal 2 (1);|.	0.304504|.	0.24970|.	U|.	0.034153|.	T|T	0.62183|0.62183	0.2407|0.2407	L|L	0.55017|0.55017	1.72|1.72	0.80722|0.80722	D|D	1|1	B|.	0.33777|.	0.425|.	B|.	0.34931|.	0.192|.	T|T	0.61292|0.61292	-0.7092|-0.7092	9|5	0.72032|.	D|.	0.01|.	.|.	13.4642|13.4642	0.61243|0.61243	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	554|.	Q8IZJ3|.	CPMD8_HUMAN|.	L|C	601|611	.|.	ENSP00000291440:V601L|.	V|W	-|-	1|3	0|0	CPAMD8|CPAMD8	16949276|16949276	1.000000|1.000000	0.71417|0.71417	0.807000|0.807000	0.32361|0.32361	0.623000|0.623000	0.37688|0.37688	3.671000|3.671000	0.54576|0.54576	1.181000|1.181000	0.42912|0.42912	0.461000|0.461000	0.40582|0.40582	GTC|TGG		0.587	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		14	28	0	0	0	1	0	14	28				
LRRC36	55282	broad.mit.edu	37	16	67409205	67409205	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr16:67409205C>A	ENST00000329956.6	+	10	1569	c.1550C>A	c.(1549-1551)cCc>cAc	p.P517H	LRRC36_ENST00000290940.7_Missense_Mutation_p.P249H|LRRC36_ENST00000435835.3_Intron|LRRC36_ENST00000541146.1_Missense_Mutation_p.P38T|LRRC36_ENST00000563189.1_Missense_Mutation_p.P396H	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	517										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		CACAGTCCCCCCATCTCTGCC	0.512																																						ENST00000329956.6																			0				endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24						c.(1549-1551)cCc>cAc		leucine rich repeat containing 36							182.0	197.0	192.0					16																	67409205		2198	4300	6498	SO:0001583	missense	55282							g.chr16:67409205C>A	BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.1550C>A	16.37:g.67409205C>A	ENSP00000329943:p.Pro517His					LRRC36_ENST00000290940.7_Missense_Mutation_p.P249H|LRRC36_ENST00000563189.1_Missense_Mutation_p.P396H|LRRC36_ENST00000541146.1_Missense_Mutation_p.P38T|LRRC36_ENST00000435835.3_Intron	p.P517H	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)	10	1569	+		Ovarian(137;0.192)	517					A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Missense_Mutation	SNP	ENST00000329956.6	37	c.1550C>A	CCDS32467.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.71|16.71	3.199244|3.199244	0.58126|0.58126	.|.	.|.	ENSG00000159708|ENSG00000159708	ENST00000329956;ENST00000290940|ENST00000541146	T;T|T	0.54866|0.52295	3.03;0.55|0.67	5.69|5.69	2.66|2.66	0.31614|0.31614	.|.	0.566984|0.566984	0.18507|0.18507	N|N	0.139167|0.139167	T|T	0.39572|0.39572	0.1083|0.1083	M|M	0.61703|0.61703	1.905|1.905	0.21355|0.21355	N|N	0.999715|0.999715	D;D|B	0.71674|0.18310	0.998;0.992|0.027	D;P|B	0.63793|0.15484	0.918;0.774|0.013	T|T	0.29731|0.29731	-1.0002|-1.0002	10|10	0.87932|0.33141	D|T	0|0.24	-2.7532|-2.7532	5.3343|5.3343	0.15949|0.15949	0.1617:0.6698:0.0:0.1685|0.1617:0.6698:0.0:0.1685	.|.	396;517|38	Q1X8D7-2;Q1X8D7|B7Z4G3	.;LRC36_HUMAN|.	H|T	517;249|38	ENSP00000329943:P517H;ENSP00000290940:P249H|ENSP00000445861:P38T	ENSP00000290940:P249H|ENSP00000445861:P38T	P|P	+|+	2|1	0|0	LRRC36|LRRC36	65966706|65966706	0.216000|0.216000	0.23585|0.23585	0.665000|0.665000	0.29768|0.29768	0.983000|0.983000	0.72400|0.72400	0.428000|0.428000	0.21395|0.21395	0.332000|0.332000	0.23536|0.23536	0.591000|0.591000	0.81541|0.81541	CCC|CCA		0.512	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421770.1	NM_018296		97	229	1	0	4.09449e-47	1	4.75718e-47	97	229				
DENND1C	79958	broad.mit.edu	37	19	6468392	6468392	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr19:6468392G>T	ENST00000381480.2	-	22	1756	c.1644C>A	c.(1642-1644)agC>agA	p.S548R	DENND1C_ENST00000543576.1_Missense_Mutation_p.S504R	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	548					positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						CCAAGAAGCTGCTGTCCAGAG	0.587																																						ENST00000381480.2																			0				endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						c.(1642-1644)agC>agA		DENN/MADD domain containing 1C							41.0	41.0	41.0					19																	6468392		1944	4134	6078	SO:0001583	missense	79958					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr19:6468392G>T	AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"""DENN/MADD domain containing"""	26225	protein-coding gene	gene with protein product		613634	"""family with sequence similarity 31, member C"""	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.1644C>A	19.37:g.6468392G>T	ENSP00000370889:p.Ser548Arg					DENND1C_ENST00000543576.1_Missense_Mutation_p.S504R	p.S548R	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN			22	1756	-			548					B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Missense_Mutation	SNP	ENST00000381480.2	37	c.1644C>A	CCDS45938.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.707670	0.48412	.	.	ENSG00000205744	ENST00000381480;ENST00000543576	T;T	0.11495	2.94;2.77	4.89	4.89	0.63831	.	1.433690	0.03926	N	0.284387	T	0.15435	0.0372	L	0.45137	1.4	0.30342	N	0.78561	P	0.41041	0.736	B	0.38803	0.282	T	0.27191	-1.0081	10	0.66056	D	0.02	-3.1216	13.5547	0.61754	0.0:0.0:1.0:0.0	.	548	Q8IV53	DEN1C_HUMAN	R	548;504	ENSP00000370889:S548R;ENSP00000437805:S504R	ENSP00000370889:S548R	S	-	3	2	DENND1C	6419392	1.000000	0.71417	0.996000	0.52242	0.596000	0.36781	2.717000	0.47227	2.261000	0.74972	0.305000	0.20034	AGC		0.587	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2	NM_024898		8	24	1	0	2.74318e-10	1	2.93287e-10	8	24				
SAMD14	201191	broad.mit.edu	37	17	48192980	48192980	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr17:48192980G>T	ENST00000330175.4	-	7	1087	c.770C>A	c.(769-771)cCc>cAc	p.P257H	SAMD14_ENST00000503734.1_5'Flank|SAMD14_ENST00000503131.1_Missense_Mutation_p.P257H	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	257										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						GGAGCAGGTGGGGGAGGTGGT	0.622																																						ENST00000330175.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						c.(769-771)cCc>cAc		sterile alpha motif domain containing 14							104.0	105.0	104.0					17																	48192980		2203	4300	6503	SO:0001583	missense	201191							g.chr17:48192980G>T		CCDS11560.1, CCDS58562.1	17q21.33	2013-01-10				ENSG00000167100		"""Sterile alpha motif (SAM) domain containing"""	27312	protein-coding gene	gene with protein product						8619474	Standard	NM_174920		Approved	FLJ36890	uc002iqg.4	Q8IZD0		ENST00000330175.4:c.770C>A	17.37:g.48192980G>T	ENSP00000329144:p.Pro257His					SAMD14_ENST00000503131.1_Missense_Mutation_p.P257H	p.P257H	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN			7	1087	-			257					A5D8V1|Q8N2X0	Missense_Mutation	SNP	ENST00000330175.4	37	c.770C>A	CCDS58562.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930785	0.52866	.	.	ENSG00000167100	ENST00000330175;ENST00000285206;ENST00000503131	.	.	.	5.28	5.28	0.74379	.	0.000000	0.64402	D	0.000008	T	0.69672	0.3137	L	0.44542	1.39	0.46701	D	0.99916	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.72070	-0.4401	9	0.72032	D	0.01	-15.883	15.8313	0.78752	0.0:0.0:1.0:0.0	.	257;257	Q8IZD0;Q8IZD0-2	SAM14_HUMAN;.	H	257;269;257	.	ENSP00000285206:P269H	P	-	2	0	SAMD14	45547979	1.000000	0.71417	0.942000	0.38095	0.181000	0.23173	5.855000	0.69510	2.458000	0.83093	0.205000	0.17691	CCC		0.622	SAMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366661.1	NM_174920		38	82	1	0	1.90571e-15	1	2.07053e-15	38	82				
EDRF1	26098	broad.mit.edu	37	10	127438083	127438083	+	Silent	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr10:127438083C>T	ENST00000356792.4	+	22	3458	c.3226C>T	c.(3226-3228)Ctg>Ttg	p.L1076L	RP11-383C5.7_ENST00000449436.1_RNA|RP11-383C5.7_ENST00000600784.1_RNA|RP11-383C5.7_ENST00000594025.1_RNA|RP11-383C5.7_ENST00000602030.1_RNA|C10orf137_ENST00000337623.3_Silent_p.L1042L|RP11-383C5.7_ENST00000593871.1_RNA|RP11-383C5.7_ENST00000601363.1_RNA	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		1076					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TCCCTGCGAACTGCTTAGAGT	0.443																																						ENST00000337623.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61						c.(3124-3126)Ctg>Ttg		chromosome 10 open reading frame 137							142.0	126.0	131.0					10																	127438083		2203	4300	6503	SO:0001819	synonymous_variant	26098				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	g.chr10:127438083C>T																												ENST00000356792.4:c.3226C>T	10.37:g.127438083C>T						RP11-383C5.7_ENST00000602030.1_RNA|RP11-383C5.7_ENST00000449436.1_RNA|RP11-383C5.7_ENST00000594025.1_RNA|RP11-383C5.7_ENST00000593871.1_RNA|RP11-383C5.7_ENST00000601363.1_RNA|RP11-383C5.7_ENST00000600784.1_RNA|C10orf137_ENST00000356792.4_Silent_p.L1076L	p.L1042L	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN			21	3229	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	1076					B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Silent	SNP	ENST00000356792.4	37	c.3124C>T	CCDS55733.1																																																																																				0.443	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			29	25	0	0	0	1	0	29	25				
HUWE1	10075	broad.mit.edu	37	X	53622348	53622348	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chrX:53622348C>T	ENST00000342160.3	-	29	3636	c.3179G>A	c.(3178-3180)gGc>gAc	p.G1060D	HUWE1_ENST00000218328.8_Missense_Mutation_p.G1060D|HUWE1_ENST00000262854.6_Missense_Mutation_p.G1060D			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1060					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AAGTGCTCGGCCTAATCTGGA	0.423																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(3178-3180)gGc>gAc		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							44.0	33.0	37.0					X																	53622348		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53622348C>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.3179G>A	X.37:g.53622348C>T	ENSP00000340648:p.Gly1060Asp					HUWE1_ENST00000262854.6_Missense_Mutation_p.G1060D|HUWE1_ENST00000218328.8_Missense_Mutation_p.G1060D	p.G1060D			Q7Z6Z7	HUWE1_HUMAN			29	3636	-			1060					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.3179G>A	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.843389	0.91197	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.54279	0.86;0.86;0.58	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.72835	0.3510	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75425	-0.3322	10	0.87932	D	0	.	17.6308	0.88106	0.0:1.0:0.0:0.0	.	1060	Q7Z6Z7	HUWE1_HUMAN	D	1060	ENSP00000340648:G1060D;ENSP00000262854:G1060D;ENSP00000218328:G1060D	ENSP00000218328:G1060D	G	-	2	0	HUWE1	53639073	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.075000	0.76798	2.522000	0.85027	0.594000	0.82650	GGC		0.423	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		14	5	0	0	0	1	0	14	5				
IGLV2-14	28815	broad.mit.edu	37	22	23101561	23101561	+	RNA	SNP	T	T	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr22:23101561T>G	ENST00000390312.2	+	0	256				D87015.1_ENST00000385100.1_RNA					immunoglobulin lambda variable 2-14																		ATTTATGAGGTCAGTAATCGG	0.547																																						ENST00000390312.2																			0																				171.0	184.0	180.0					22																	23101561		1869	4100	5969			28815							g.chr22:23101561T>G	Z73664		22q11.2	2012-02-08			ENSG00000211666	ENSG00000211666		"""Immunoglobulins / IGL locus"""	5888	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151235		22.37:g.23101561T>G														0	256	+									RNA	SNP	ENST00000390312.2	37																																																																																						0.547	IGLV2-14-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321840.1	NG_000002		69	232	0	0	0	1	0	69	232				
KIAA1211	57482	broad.mit.edu	37	4	57182512	57182512	+	Silent	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr4:57182512C>T	ENST00000504228.1	+	6	2949	c.2844C>T	c.(2842-2844)caC>caT	p.H948H	KIAA1211_ENST00000264229.6_Silent_p.H948H|KIAA1211_ENST00000541073.1_Silent_p.H941H			Q6ZU35	K1211_HUMAN	KIAA1211	948	Pro-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CTCCGGAGCACGACAAGGCAG	0.642																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(2842-2844)caC>caT		KIAA1211							39.0	48.0	45.0					4																	57182512		2083	4206	6289	SO:0001819	synonymous_variant	57482							g.chr4:57182512C>T	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2844C>T	4.37:g.57182512C>T						KIAA1211_ENST00000541073.1_Silent_p.H941H|KIAA1211_ENST00000264229.6_Silent_p.H948H	p.H948H			Q6ZU35	K1211_HUMAN			6	2949	+	Glioma(25;0.08)|all_neural(26;0.101)		948			Pro-rich.		Q9NTE2|Q9NTP8|Q9ULK9	Silent	SNP	ENST00000504228.1	37	c.2844C>T	CCDS43230.1																																																																																				0.642	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		13	17	0	0	0	1	0	13	17				
ZNF7	7553	broad.mit.edu	37	8	146054860	146054860	+	Intron	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr8:146054860C>T	ENST00000528372.1	+	3	243				ZNF7_ENST00000325241.6_Intron|ZNF7_ENST00000532393.1_Intron|ZNF7_ENST00000528130.1_Intron|ZNF7_ENST00000325217.5_Nonsense_Mutation_p.Q12*|ZNF7_ENST00000529819.1_Intron|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000446747.2_Nonsense_Mutation_p.Q12*|ZNF7_ENST00000544249.1_Intron			P17097	ZNF7_HUMAN	zinc finger protein 7						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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		TGTGTCCTTTCAGGAGGTGGT	0.617																																						ENST00000446747.2																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(34-36)Cag>Tag		zinc finger protein 7							237.0	204.0	215.0					8																	146054860		2203	4300	6503	SO:0001627	intron_variant	7553				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146054860C>T	AB209619	CCDS6435.1, CCDS64996.1, CCDS64998.1, CCDS64999.1	8q24	2013-01-08	2006-05-09		ENSG00000147789	ENSG00000147789		"""Zinc fingers, C2H2-type"", ""-"""	13139	protein-coding gene	gene with protein product		194531	"""zinc finger protein 7 (KOX 4, clone HF.16)"""			2106481, 1946370	Standard	NM_003416		Approved	KOX4, HF.16	uc003zeg.4	P17097	OTTHUMG00000165200	ENST00000528372.1:c.4-3C>T	8.37:g.146054860C>T						ZNF7_ENST00000529819.1_Intron|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000528372.1_Intron|ZNF7_ENST00000325217.5_Nonsense_Mutation_p.Q12*|ZNF7_ENST00000528130.1_Intron|ZNF7_ENST00000325241.6_Intron|ZNF7_ENST00000532393.1_Intron|ZNF7_ENST00000544249.1_Intron	p.Q12*			P17097	ZNF7_HUMAN	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)	3	130	+	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	0			KRAB.		B4DT08|D3DWN6|P17015|Q8N8Y4	Nonsense_Mutation	SNP	ENST00000528372.1	37	c.34C>T	CCDS6435.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.894204	0.91889	.	.	ENSG00000147789	ENST00000446747;ENST00000325217	.	.	.	3.81	3.81	0.43845	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	11.4754	0.50295	0.0:1.0:0.0:0.0	.	.	.	.	X	12	.	ENSP00000318848:Q12X	Q	+	1	0	ZNF7	146025664	0.958000	0.32768	1.000000	0.80357	0.995000	0.86356	1.723000	0.38053	2.431000	0.82371	0.655000	0.94253	CAG		0.617	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382660.1	NM_003416		152	105	0	0	0	1	0	152	105				
CDH4	1002	broad.mit.edu	37	20	60485513	60485513	+	Silent	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr20:60485513C>T	ENST00000360469.5	+	9	1312	c.1224C>T	c.(1222-1224)acC>acT	p.T408T	CDH4_ENST00000543233.1_Silent_p.T334T	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	408	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCGTGGAGACCGTGGTCGCAA	0.527																																						ENST00000360469.5																			0				NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(1222-1224)acC>acT		cadherin 4, type 1, R-cadherin (retinal)							100.0	80.0	87.0					20																	60485513		2203	4300	6503	SO:0001819	synonymous_variant	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60485513C>T	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.1224C>T	20.37:g.60485513C>T						CDH4_ENST00000543233.1_Silent_p.T334T	p.T408T	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		9	1312	+			408			Cadherin 3.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	ENST00000360469.5	37	c.1224C>T	CCDS13488.1																																																																																				0.527	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		12	35	0	0	0	1	0	12	35				
ZNF230	7773	broad.mit.edu	37	19	44515253	44515253	+	Silent	SNP	T	T	C	rs561218487	byFrequency	TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr19:44515253T>C	ENST00000429154.2	+	5	1290	c.1062T>C	c.(1060-1062)caT>caC	p.H354H		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	354					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				TTTTGATCCATCAGCGAATCC	0.428													T|||	4	0.000798722	0.0	0.0	5008	,	,		20770	0.003		0.0	False		,,,				2504	0.001				GBM(175;914 2069 22996 47111 52600)	ENST00000429154.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22						c.(1060-1062)caT>caC		zinc finger protein 230							127.0	118.0	121.0					19																	44515253		2203	4300	6503	SO:0001819	synonymous_variant	7773				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44515253T>C	U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"""Zinc fingers, C2H2-type"", ""-"""	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.1062T>C	19.37:g.44515253T>C							p.H354H	NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN			5	1290	+		Prostate(69;0.0352)	354					O15322|Q504X7|Q86W84|Q9P1U6	Silent	SNP	ENST00000429154.2	37	c.1062T>C	CCDS33044.1																																																																																				0.428	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460456.1			30	153	0	0	0	1	0	30	153				
ABHD11	83451	broad.mit.edu	37	7	73152999	73152999	+	Silent	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr7:73152999G>A	ENST00000222800.3	-	1	198	c.129C>T	c.(127-129)ggC>ggT	p.G43G	ABHD11_ENST00000395147.4_Silent_p.G43G|ABHD11_ENST00000437775.2_Silent_p.G43G|LINC00035_ENST00000427153.1_RNA|ABHD11_ENST00000468998.1_5'UTR|ABHD11_ENST00000458339.1_Silent_p.G43G	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11	43						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				CCCCTCGGCCGCCGCTGCTGC	0.741																																						ENST00000222800.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4						c.(127-129)ggC>ggT		abhydrolase domain containing 11							6.0	7.0	7.0					7																	73152999		2013	4052	6065	SO:0001819	synonymous_variant	83451						hydrolase activity	g.chr7:73152999G>A	AF217971	CCDS5558.1, CCDS47607.1, CCDS47608.1, CCDS75615.1	7q11.23	2010-08-05	2005-01-24	2005-01-27	ENSG00000106077	ENSG00000106077		"""Abhydrolase domain containing"""	16407	protein-coding gene	gene with protein product			"""Williams Beuren syndrome chromosome region 21"""	WBSCR21		12073013	Standard	NR_026910		Approved	PP1226	uc003tzb.3	Q8NFV4	OTTHUMG00000130029	ENST00000222800.3:c.129C>T	7.37:g.73152999G>A						ABHD11_ENST00000395147.4_Silent_p.G43G|ABHD11_ENST00000437775.2_Silent_p.G43G|ABHD11_ENST00000458339.1_Silent_p.G43G|ABHD11_ENST00000468998.1_5'UTR	p.G43G	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN			1	198	-		Lung NSC(55;0.0908)|all_lung(88;0.198)	43					H7BYM8|Q6PJU0|Q8N722|Q8N723|Q8NFV2|Q8NFV3|Q9HBS8	Silent	SNP	ENST00000222800.3	37	c.129C>T	CCDS5558.1																																																																																				0.741	ABHD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252306.1			9	8	0	0	0	1	0	9	8				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609		TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr21:14414902G>A	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		CCAGCTTGACGTCCTTGATGG	0.443																																						ENST00000507941.1																			0																																																			149992							g.chr21:14414902G>A	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414902G>A														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.443	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		6	35	0	0	0	1	0	6	35				
IL21R	50615	broad.mit.edu	37	16	27460487	27460487	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr16:27460487C>A	ENST00000337929.3	+	9	1973	c.1500C>A	c.(1498-1500)agC>agA	p.S500R	IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000395754.4_Missense_Mutation_p.S500R|IL21R_ENST00000564089.1_Missense_Mutation_p.S500R|IL21R_ENST00000395755.1_Missense_Mutation_p.S500R	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	500					interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CTGACTGCAGCAGCCCTGTGG	0.657			T	BCL6	NHL																																	ENST00000337929.3				Dom	yes		16	16p11	50615	T	interleukin 21 receptor			L	BCL6		NHL		0				breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						c.(1498-1500)agC>agA		interleukin 21 receptor							50.0	44.0	46.0					16																	27460487		2196	4300	6496	SO:0001583	missense	50615				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	g.chr16:27460487C>A	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.1500C>A	16.37:g.27460487C>A	ENSP00000338010:p.Ser500Arg					IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000564089.1_Missense_Mutation_p.S500R|IL21R_ENST00000395754.4_Missense_Mutation_p.S500R|IL21R_ENST00000395755.1_Missense_Mutation_p.S500R	p.S500R	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN			9	1973	+			500					A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	ENST00000337929.3	37	c.1500C>A	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.594681	0.46318	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	T;T;T	0.18960	2.18;2.18;2.18	4.9	1.77	0.24775	.	0.152173	0.45361	D	0.000367	T	0.08268	0.0206	N	0.08118	0	0.23882	N	0.996573	P	0.38420	0.63	B	0.34652	0.187	T	0.19160	-1.0314	10	0.66056	D	0.02	-28.0349	3.8244	0.08848	0.1673:0.5796:0.1619:0.0912	.	500	Q9HBE5	IL21R_HUMAN	R	500	ENSP00000338010:S500R;ENSP00000379104:S500R;ENSP00000379103:S500R	ENSP00000338010:S500R	S	+	3	2	IL21R	27367988	0.834000	0.29399	0.994000	0.49952	0.929000	0.56500	-0.451000	0.06795	0.112000	0.17975	-0.314000	0.08810	AGC		0.657	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		12	65	1	0	5.50884e-06	1	5.67834e-06	12	65				
PCNXL2	80003	broad.mit.edu	37	1	233394939	233394939	+	Silent	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr1:233394939G>A	ENST00000258229.9	-	5	903	c.669C>T	c.(667-669)ctC>ctT	p.L223L	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	223						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TACCATTGATGAGAGTTTCTG	0.498																																						ENST00000258229.8																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(667-669)ctC>ctT		pecanex-like 2 (Drosophila)							118.0	120.0	119.0					1																	233394939		1947	4150	6097	SO:0001819	synonymous_variant	80003					integral to membrane		g.chr1:233394939G>A	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.669C>T	1.37:g.233394939G>A						PCNXL2_ENST00000430153.1_5'UTR	p.L223L	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN			5	903	-		all_cancers(173;0.0347)|Prostate(94;0.137)	223					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	ENST00000258229.9	37	c.669C>T	CCDS44335.1																																																																																				0.498	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		12	103	0	0	0	1	0	12	103				
KLHL31	401265	broad.mit.edu	37	6	53519694	53519694	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr6:53519694G>A	ENST00000407079.1	-	1	376	c.377C>T	c.(376-378)gCa>gTa	p.A126V	KLHL31_ENST00000370905.3_Missense_Mutation_p.A126V			Q9H511	KLH31_HUMAN	kelch-like family member 31	126	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					GTAGGCATATGCAATGACAGT	0.413																																						ENST00000370905.3																			0				autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20						c.(376-378)gCa>gTa		kelch-like family member 31							117.0	113.0	114.0					6																	53519694		2203	4300	6503	SO:0001583	missense	401265				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr6:53519694G>A		CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"""Kelch-like"", ""BTB/POZ domain containing"""	21353	protein-coding gene	gene with protein product		610749	"""kelch repeat and BTB (POZ) domain containing 1"", ""kelch-like 31 (Drosophila)"""	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.377C>T	6.37:g.53519694G>A	ENSP00000384644:p.Ala126Val					KLHL31_ENST00000407079.1_Missense_Mutation_p.A126V	p.A126V	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN			2	517	-	Lung NSC(77;0.0158)		126			BTB.		A6N9J2|B2RP49	Missense_Mutation	SNP	ENST00000407079.1	37	c.377C>T	CCDS34478.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279861	0.59758	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	T;T	0.22336	1.96;1.96	6.03	6.03	0.97812	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.092045	0.64402	D	0.000001	T	0.07728	0.0194	N	0.03608	-0.345	0.53688	D	0.999972	B	0.28128	0.201	B	0.31946	0.138	T	0.31641	-0.9936	10	0.72032	D	0.01	.	20.5596	0.99324	0.0:0.0:1.0:0.0	.	126	Q9H511	KLH31_HUMAN	V	126	ENSP00000359942:A126V;ENSP00000384644:A126V	ENSP00000359942:A126V	A	-	2	0	KLHL31	53627653	1.000000	0.71417	0.964000	0.40570	0.750000	0.42670	9.869000	0.99810	2.868000	0.98415	0.555000	0.69702	GCA		0.413	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040965.1	NM_001003760		55	272	0	0	0	1	0	55	272				
HERC2	8924	broad.mit.edu	37	15	28419625	28419625	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr15:28419625T>G	ENST00000261609.7	-	65	10081	c.9973A>C	c.(9973-9975)Aca>Cca	p.T3325P		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCCACAGTTGTCCACGCCACA	0.557																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(9973-9975)Aca>Cca		HECT and RLD domain containing E3 ubiquitin protein ligase 2							60.0	40.0	47.0					15																	28419625		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28419625T>G	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.9973A>C	15.37:g.28419625T>G	ENSP00000261609:p.Thr3325Pro						p.T3325P	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	65	10081	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3325						Missense_Mutation	SNP	ENST00000261609.7	37	c.9973A>C	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	T	15.64	2.893856	0.52121	.	.	ENSG00000128731	ENST00000261609	T	0.81078	-1.45	5.72	4.57	0.56435	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.86569	0.5964	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.63488	0.915	D	0.86553	0.1836	10	0.59425	D	0.04	.	12.0109	0.53286	0.1298:0.0:0.0:0.8702	.	3325	O95714	HERC2_HUMAN	P	3325	ENSP00000261609:T3325P	ENSP00000261609:T3325P	T	-	1	0	HERC2	26093220	1.000000	0.71417	0.989000	0.46669	0.211000	0.24417	6.279000	0.72620	0.956000	0.37904	0.482000	0.46254	ACA		0.557	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		16	19	0	0	0	1	0	16	19				
DYSF	8291	broad.mit.edu	37	2	71838718	71838718	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr2:71838718A>C	ENST00000258104.3	+	38	4406	c.4129A>C	c.(4129-4131)Aac>Cac	p.N1377H	DYSF_ENST00000429174.2_Missense_Mutation_p.N1377H|DYSF_ENST00000409366.1_Missense_Mutation_p.N1378H|DYSF_ENST00000394120.2_Missense_Mutation_p.N1378H|DYSF_ENST00000409582.3_Missense_Mutation_p.N1394H|DYSF_ENST00000409762.1_Missense_Mutation_p.N1394H|DYSF_ENST00000409651.1_Missense_Mutation_p.N1409H|DYSF_ENST00000410020.3_Missense_Mutation_p.N1395H|DYSF_ENST00000410041.1_Missense_Mutation_p.N1395H|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Missense_Mutation_p.N1408H|DYSF_ENST00000409744.1_Missense_Mutation_p.N1364H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1377	C2 5. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCTCCGGAAGAACCCCAACTT	0.577																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.(4129-4131)Aac>Cac		dysferlin							57.0	55.0	55.0					2																	71838718		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71838718A>C	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4129A>C	2.37:g.71838718A>C	ENSP00000258104:p.Asn1377His					DYSF_ENST00000429174.2_Missense_Mutation_p.N1377H|DYSF_ENST00000409762.1_Missense_Mutation_p.N1394H|DYSF_ENST00000409744.1_Missense_Mutation_p.N1364H|DYSF_ENST00000410041.1_Missense_Mutation_p.N1395H|DYSF_ENST00000409651.1_Missense_Mutation_p.N1409H|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Missense_Mutation_p.N1408H|DYSF_ENST00000409366.1_Missense_Mutation_p.N1378H|DYSF_ENST00000394120.2_Missense_Mutation_p.N1378H|DYSF_ENST00000409582.3_Missense_Mutation_p.N1394H|DYSF_ENST00000410020.3_Missense_Mutation_p.N1395H	p.N1377H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			38	4406	+			1377					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.4129A>C	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.540924	0.85917	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9;-1.9	5.78	5.78	0.91487	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.044077	0.85682	D	0.000000	D	0.92093	0.7494	M	0.80847	2.515	0.58432	D	0.999996	D;D;D;D;D;D;D;D;D;D;D;P;D;D;D	0.89917	0.995;0.999;0.999;0.996;0.996;0.995;0.995;0.995;1.0;0.999;1.0;0.864;0.996;0.996;0.997	D;D;D;D;D;D;D;D;D;D;D;P;D;D;D	0.76071	0.971;0.978;0.945;0.945;0.945;0.944;0.959;0.944;0.978;0.945;0.987;0.452;0.945;0.945;0.968	D	0.92609	0.6098	10	0.56958	D	0.05	-43.0221	14.0574	0.64779	1.0:0.0:0.0:0.0	.	120;1409;1395;1378;1364;1395;1364;1394;1363;1408;1394;1377;1363;1378;1377	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	H	1408;1394;1394;1377;1377;1409;1378;1364;1378;1395;1395	ENSP00000407046:N1408H;ENSP00000387137:N1394H;ENSP00000386547:N1394H;ENSP00000398305:N1377H;ENSP00000258104:N1377H;ENSP00000386683:N1409H;ENSP00000377678:N1378H;ENSP00000386285:N1364H;ENSP00000386512:N1378H;ENSP00000386881:N1395H;ENSP00000386617:N1395H	ENSP00000258104:N1377H	N	+	1	0	DYSF	71692226	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.211000	0.71520	0.459000	0.35465	AAC		0.577	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		5	33	0	0	0	1	0	5	33				
BATF	10538	broad.mit.edu	37	14	76012935	76012935	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr14:76012935C>T	ENST00000286639.6	+	3	557	c.299C>T	c.(298-300)aCg>aTg	p.T100M	BATF_ENST00000555504.1_Intron|BATF_ENST00000555795.1_3'UTR	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN	basic leucine zipper transcription factor, ATF-like	100					cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hematopoietic stem cell differentiation (GO:0060218)|isotype switching (GO:0045190)|lymphoid progenitor cell differentiation (GO:0002320)|myeloid dendritic cell differentiation (GO:0043011)|T-helper 17 cell differentiation (GO:0072539)|T-helper 17 cell lineage commitment (GO:0072540)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		GCCGCCAGCACGCCCTCGCCC	0.642																																						ENST00000286639.6																			0				large_intestine(1)|ovary(1)|skin(1)	3						c.(298-300)aCg>aTg		basic leucine zipper transcription factor, ATF-like							40.0	30.0	34.0					14																	76012935		2200	4298	6498	SO:0001583	missense	10538					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:76012935C>T	AF016898	CCDS9843.1	14q24	2013-01-10				ENSG00000156127		"""basic leucine zipper proteins"""	958	protein-coding gene	gene with protein product	"""activating transcription factor B"", ""SF-HT-activated gene 2"""	612476				8570175, 8630063	Standard	NM_006399		Approved	B-ATF, SFA-2, BATF1	uc001xrr.3	Q16520		ENST00000286639.6:c.299C>T	14.37:g.76012935C>T	ENSP00000286639:p.Thr100Met					BATF_ENST00000555795.1_3'UTR|BATF_ENST00000555504.1_Intron	p.T100M	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.028)	3	557	+			100						Missense_Mutation	SNP	ENST00000286639.6	37	c.299C>T	CCDS9843.1	.	.	.	.	.	.	.	.	.	.	C	6.057	0.378880	0.11466	.	.	ENSG00000156127	ENST00000286639	T	0.77877	-1.13	5.61	4.65	0.58169	.	0.867847	0.10431	N	0.675488	T	0.60753	0.2293	N	0.08118	0	0.41857	D	0.9902	B	0.19935	0.04	B	0.08055	0.003	T	0.51498	-0.8698	10	0.38643	T	0.18	-5.2657	11.2603	0.49078	0.0:0.9063:0.0:0.0937	.	100	Q16520	BATF_HUMAN	M	100	ENSP00000286639:T100M	ENSP00000286639:T100M	T	+	2	0	BATF	75082688	0.044000	0.20184	0.467000	0.27180	0.078000	0.17371	3.529000	0.53532	1.221000	0.43506	0.655000	0.94253	ACG		0.642	BATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413669.1	NM_006399		5	20	0	0	0	1	0	5	20				
COL22A1	169044	broad.mit.edu	37	8	139706770	139706770	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr8:139706770T>A	ENST00000303045.6	-	34	3127	c.2681A>T	c.(2680-2682)cAg>cTg	p.Q894L	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.Q894L	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	894	Collagen-like 7.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AGTGGGTCCCTGAGGCCCCAA	0.612										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(2680-2682)cAg>cTg		collagen, type XXII, alpha 1							99.0	89.0	93.0					8																	139706770		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139706770T>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.2681A>T	8.37:g.139706770T>A	ENSP00000303153:p.Gln894Leu	HNSCC(7;0.00092)				COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.Q894L	p.Q894L	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		34	3127	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		894			Collagen-like 7.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.2681A>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	5.522	0.281210	0.10458	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.94138	-3.21;-3.36	3.8	-0.216	0.13153	.	0.170048	0.27060	U	0.021125	D	0.90167	0.6927	L	0.43757	1.38	0.09310	N	0.999998	B;B	0.32324	0.007;0.364	B;P	0.45276	0.006;0.475	T	0.81711	-0.0808	10	0.38643	T	0.18	.	4.1667	0.10310	0.0:0.3683:0.3309:0.3008	.	894;894	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	L	894;894;607	ENSP00000303153:Q894L;ENSP00000387655:Q894L	ENSP00000303153:Q894L	Q	-	2	0	COL22A1	139775952	0.017000	0.18338	0.970000	0.41538	0.066000	0.16364	-1.429000	0.02437	-0.288000	0.09051	-1.551000	0.00897	CAG		0.612	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		39	38	0	0	0	1	0	39	38				
ACSM2B	348158	broad.mit.edu	37	16	20570634	20570634	+	Missense_Mutation	SNP	G	G	A	rs141121285		TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr16:20570634G>A	ENST00000329697.6	-	3	481	c.313C>T	c.(313-315)Cgt>Tgt	p.R105C	ACSM2B_ENST00000565322.1_Missense_Mutation_p.R26C|ACSM2B_ENST00000565232.1_Missense_Mutation_p.R105C|ACSM2B_ENST00000567001.1_Missense_Mutation_p.R105C|ACSM2B_ENST00000414188.2_Missense_Mutation_p.R105C	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	105					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CGATCCCCACGCTGCAGGCCA	0.567																																						ENST00000329697.6																			0				breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(313-315)Cgt>Tgt		acyl-CoA synthetase medium-chain family member 2B		G	CYS/ARG,CYS/ARG	2,4400	4.2+/-10.8	0,2,2199	57.0	45.0	49.0		313,313	2.6	0.7	16	dbSNP_134	49	0,8600		0,0,4300	no	missense,missense	ACSM2B	NM_001105069.1,NM_182617.3	180,180	0,2,6499	AA,AG,GG		0.0,0.0454,0.0154	benign,benign	105/578,105/578	20570634	2,13000	2201	4300	6501	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20570634G>A	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.313C>T	16.37:g.20570634G>A	ENSP00000327453:p.Arg105Cys					ACSM2B_ENST00000565232.1_Missense_Mutation_p.R105C|ACSM2B_ENST00000565322.1_Missense_Mutation_p.R26C|ACSM2B_ENST00000567001.1_Missense_Mutation_p.R105C|ACSM2B_ENST00000414188.2_Missense_Mutation_p.R105C	p.R105C	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN			3	481	-			105					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.313C>T	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	G	7.391	0.630872	0.14322	4.54E-4	0.0	ENSG00000066813	ENST00000329697;ENST00000414188	T;T	0.52295	0.67;0.67	3.51	2.56	0.30785	AMP-dependent synthetase/ligase (1);	0.189594	0.27262	N	0.020171	T	0.44932	0.1317	M	0.84433	2.695	0.39735	D	0.971669	P;P	0.37636	0.603;0.603	B;B	0.31946	0.138;0.138	T	0.48502	-0.9030	10	0.56958	D	0.05	-6.0087	5.8865	0.18884	0.1083:0.0:0.7025:0.1891	.	105;105	A8K051;Q68CK6	.;ACS2B_HUMAN	C	105	ENSP00000327453:R105C;ENSP00000390378:R105C	ENSP00000327453:R105C	R	-	1	0	ACSM2B	20478135	0.068000	0.21057	0.652000	0.29579	0.020000	0.10135	1.505000	0.35736	0.688000	0.31529	0.609000	0.83330	CGT		0.567	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		11	23	0	0	0	1	0	11	23				
GOLGA6L6	727832	broad.mit.edu	37	15	20743796	20743796	+	Silent	SNP	C	C	T	rs200673320		TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr15:20743796C>T	ENST00000427390.2	-	4	498	c.408G>A	c.(406-408)acG>acA	p.T136T		NM_001145004.1	NP_001138476.1	A8MZA4	GG6L6_HUMAN	golgin A6 family-like 6	136								p.T136T(1)		NS(3)|endometrium(4)|kidney(1)|skin(3)	11						TTTTCTGACACGTAAGGATTC	0.493																																						ENST00000427390.2																			1	Substitution - coding silent(1)	p.T136T(1)	endometrium(1)	NS(3)|endometrium(4)|kidney(1)|skin(3)	11						c.(406-408)acG>acA		golgin A6 family-like 6							31.0	8.0	19.0					15																	20743796		336	402	738	SO:0001819	synonymous_variant	727832							g.chr15:20743796C>T	AK093450	CCDS45184.1	15q11.2	2014-02-12	2010-02-12		ENSG00000215405	ENSG00000277322			37225	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6-like 6"""				Standard	NM_001145004		Approved	FLJ36131	uc001ytk.2	A8MZA4	OTTHUMG00000171663	ENST00000427390.2:c.408G>A	15.37:g.20743796C>T							p.T136T	NM_001145004.1	NP_001138476.1	A8MZA4	GG6L6_HUMAN			4	498	-			136					D3YTC0	Silent	SNP	ENST00000427390.2	37	c.408G>A	CCDS45184.1																																																																																				0.493	GOLGA6L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414660.3	NM_001145004		4	37	0	0	0	1	0	4	37				
RAG2	5897	broad.mit.edu	37	11	36614176	36614176	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr11:36614176T>G	ENST00000311485.3	-	2	1704	c.1543A>C	c.(1543-1545)Act>Cct	p.T515P	C11orf74_ENST00000334307.5_5'Flank|RAG2_ENST00000528428.1_5'Flank|C11orf74_ENST00000347206.4_5'Flank|C11orf74_ENST00000534635.1_5'Flank|C11orf74_ENST00000446510.2_5'Flank	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	515					B cell differentiation (GO:0030183)|chromatin modification (GO:0016568)|pre-B cell allelic exclusion (GO:0002331)|T cell differentiation in thymus (GO:0033077)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TTGGCAGGAGTCAAGATTTTT	0.373									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000311485.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32						c.(1543-1545)Act>Cct		recombination activating gene 2							50.0	55.0	54.0					11																	36614176		2202	4298	6500	SO:0001583	missense	5897	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding	g.chr11:36614176T>G	AF080577	CCDS7903.1	11p13	2014-09-17				ENSG00000175097			9832	protein-coding gene	gene with protein product		179616				1283330	Standard	NM_000536		Approved		uc001mwv.4	P55895		ENST00000311485.3:c.1543A>C	11.37:g.36614176T>G	ENSP00000308620:p.Thr515Pro						p.T515P	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN			2	1704	-	all_lung(20;0.226)	all_hematologic(20;0.00756)	515					A8K9E9|Q8TBL4	Missense_Mutation	SNP	ENST00000311485.3	37	c.1543A>C	CCDS7903.1	.	.	.	.	.	.	.	.	.	.	T	14.05	2.421042	0.42918	.	.	ENSG00000175097	ENST00000311485	D	0.96774	-4.12	5.37	5.37	0.77165	.	0.123601	0.53938	D	0.000049	D	0.95389	0.8503	L	0.29908	0.895	0.47659	D	0.999482	D	0.63880	0.993	P	0.59288	0.855	D	0.95075	0.8208	10	0.54805	T	0.06	-11.0983	10.8515	0.46773	0.1407:0.0:0.0:0.8592	.	515	P55895	RAG2_HUMAN	P	515	ENSP00000308620:T515P	ENSP00000308620:T515P	T	-	1	0	RAG2	36570752	0.986000	0.35501	0.933000	0.37362	0.972000	0.66771	1.922000	0.40045	2.168000	0.68352	0.528000	0.53228	ACT		0.373	RAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389536.1	NM_000536		17	15	0	0	0	1	0	17	15				
NLRC4	58484	broad.mit.edu	37	2	32476104	32476104	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr2:32476104C>T	ENST00000404025.2	-	5	1317	c.829G>A	c.(829-831)Gtc>Atc	p.V277I	NLRC4_ENST00000402280.1_Missense_Mutation_p.V277I|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.V277I			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	277	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Nucleotide-binding domain (NBD). {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GTAGTGGTGACGATGACCATG	0.522																																						ENST00000404025.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(829-831)Gtc>Atc		NLR family, CARD domain containing 4							134.0	111.0	119.0					2																	32476104		2203	4300	6503	SO:0001583	missense	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32476104C>T	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.829G>A	2.37:g.32476104C>T	ENSP00000385090:p.Val277Ile					NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.V277I|NLRC4_ENST00000360906.5_Missense_Mutation_p.V277I	p.V277I			Q9NPP4	NLRC4_HUMAN			5	1317	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		277			NACHT.		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	ENST00000404025.2	37	c.829G>A	CCDS33174.1	.	.	.	.	.	.	.	.	.	.	C	5.987	0.366071	0.11352	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.17054	2.3;2.3;2.3	3.27	2.37	0.29283	.	0.000000	0.42821	D	0.000657	T	0.20536	0.0494	N	0.21142	0.635	0.29118	N	0.880413	D	0.76494	0.999	D	0.76575	0.988	T	0.09422	-1.0675	9	0.11485	T	0.65	-15.1709	9.9566	0.41671	0.0:0.885:0.0:0.1149	.	277	Q9NPP4	NLRC4_HUMAN	I	277	ENSP00000354159:V277I;ENSP00000385428:V277I;ENSP00000385090:V277I	ENSP00000354159:V277I	V	-	1	0	NLRC4	32329608	0.548000	0.26473	0.889000	0.34880	0.854000	0.48673	0.800000	0.27042	1.836000	0.53414	0.543000	0.68304	GTC		0.522	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		45	116	0	0	0	1	0	45	116				
GSAP	54103	broad.mit.edu	37	7	76984631	76984631	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr7:76984631A>T	ENST00000257626.7	-	16	1315	c.1237T>A	c.(1237-1239)Tta>Ata	p.L413I		NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	413					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										AGCTGTAATAAAGACGACTGG	0.502																																						ENST00000257626.7																			0											c.(1237-1239)Tta>Ata		gamma-secretase activating protein							100.0	105.0	104.0					7																	76984631		2203	4300	6503	SO:0001583	missense	54103							g.chr7:76984631A>T		CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"""pigeon homolog (Drosophila)"""	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.1237T>A	7.37:g.76984631A>T	ENSP00000257626:p.Leu413Ile						p.L413I	NM_017439.3	NP_059135.2					16	1315	-								A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Missense_Mutation	SNP	ENST00000257626.7	37	c.1237T>A	CCDS34672.2	.	.	.	.	.	.	.	.	.	.	A	13.36	2.214061	0.39102	.	.	ENSG00000186088	ENST00000257626	T	0.44881	0.91	5.76	-0.631	0.11526	.	0.000000	0.51477	U	0.000082	T	0.52565	0.1742	M	0.71581	2.175	0.25577	N	0.986837	D;D	0.76494	0.995;0.999	D;D	0.65773	0.926;0.938	T	0.42899	-0.9424	10	0.66056	D	0.02	.	5.5607	0.17142	0.4406:0.16:0.3994:0.0	.	413;413	A4D1B5-3;A4D1B5	.;GSAP_HUMAN	I	413	ENSP00000257626:L413I	ENSP00000257626:L413I	L	-	1	2	PION	76822567	0.025000	0.19082	0.000000	0.03702	0.020000	0.10135	0.435000	0.21510	-0.105000	0.12132	0.533000	0.62120	TTA		0.502	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318672.2	NM_017439		50	72	0	0	0	1	0	50	72				
TC2N	123036	broad.mit.edu	37	14	92249476	92249476	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr14:92249476C>T	ENST00000435962.2	-	12	1764	c.1441G>A	c.(1441-1443)Gtt>Att	p.V481I	TC2N_ENST00000556018.1_Missense_Mutation_p.V417I|TC2N_ENST00000340892.5_Missense_Mutation_p.V481I|TC2N_ENST00000360594.5_Missense_Mutation_p.V481I	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	481					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		CACCTGATAACAACCTTTTCT	0.328																																						ENST00000435962.2																			0				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18						c.(1441-1443)Gtt>Att		tandem C2 domains, nuclear							245.0	226.0	233.0					14																	92249476		2203	4299	6502	SO:0001583	missense	123036					nucleus		g.chr14:92249476C>T	AA243837	CCDS9897.1, CCDS73679.1	14q32.12	2007-10-17	2007-08-17	2007-08-17		ENSG00000165929			19859	protein-coding gene	gene with protein product	"""C2 calcium-dependent domain containing 1"""		"""chromosome 14 open reading frame 47"", ""membrane targeting (tandem) C2 domain containing 1"""	C14orf47, MTAC2D1		11526914	Standard	NM_001128596		Approved	FLJ36557, Tac2-N, C2CD1	uc001xzt.4	Q8N9U0		ENST00000435962.2:c.1441G>A	14.37:g.92249476C>T	ENSP00000387882:p.Val481Ile					TC2N_ENST00000556018.1_Missense_Mutation_p.V417I|TC2N_ENST00000360594.5_Missense_Mutation_p.V481I|TC2N_ENST00000340892.5_Missense_Mutation_p.V481I	p.V481I	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN		COAD - Colon adenocarcinoma(157;0.218)	12	1764	-			481						Missense_Mutation	SNP	ENST00000435962.2	37	c.1441G>A	CCDS9897.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.086013	0.36855	.	.	ENSG00000165929	ENST00000435962;ENST00000340892;ENST00000360594;ENST00000556018;ENST00000556590	T;T;T;T;T	0.13196	3.33;3.33;3.33;2.61;2.88	5.59	5.59	0.84812	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.14874	0.0359	L	0.34521	1.04	0.53005	D	0.999965	P;P	0.42456	0.553;0.78	B;B	0.42827	0.399;0.249	T	0.06917	-1.0800	10	0.15499	T	0.54	-21.0171	19.5851	0.95487	0.0:1.0:0.0:0.0	.	417;481	Q8N9U0-2;Q8N9U0	.;TAC2N_HUMAN	I	481;481;481;417;233	ENSP00000387882:V481I;ENSP00000343199:V481I;ENSP00000353802:V481I;ENSP00000451317:V417I;ENSP00000450922:V233I	ENSP00000343199:V481I	V	-	1	0	TC2N	91319229	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.599000	0.61076	2.635000	0.89317	0.650000	0.86243	GTT		0.328	TC2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411778.1	NM_152332		24	76	0	0	0	1	0	24	76				
TNS3	64759	broad.mit.edu	37	7	47342762	47342762	+	Silent	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr7:47342762G>A	ENST00000398879.1	-	22	3609	c.3243C>T	c.(3241-3243)caC>caT	p.H1081H	TNS3_ENST00000311160.9_Silent_p.H1081H|TNS3_ENST00000355730.3_Silent_p.H841H			Q68CZ2	TENS3_HUMAN	tensin 3	1081					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GGCCTGGACTGTGGTGGCTGC	0.667																																						ENST00000398879.1																			0				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						c.(3241-3243)caC>caT		tensin 3							19.0	24.0	22.0					7																	47342762		1994	4143	6137	SO:0001819	synonymous_variant	64759					focal adhesion	protein binding	g.chr7:47342762G>A	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.3243C>T	7.37:g.47342762G>A						TNS3_ENST00000311160.9_Silent_p.H1081H|TNS3_ENST00000355730.3_Silent_p.H841H	p.H1081H			Q68CZ2	TENS3_HUMAN			22	3609	-			1081					B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Silent	SNP	ENST00000398879.1	37	c.3243C>T	CCDS5506.2																																																																																				0.667	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		7	39	0	0	0	1	0	7	39				
PLXNB2	23654	broad.mit.edu	37	22	50728272	50728272	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr22:50728272G>A	ENST00000449103.1	-	3	882	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	PLXNB2_ENST00000359337.4_Missense_Mutation_p.R248C			O15031	PLXB2_HUMAN	plexin B2	248	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTGCACATGCGTGCCAGCAGC	0.637																																						ENST00000449103.1																			0				breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(742-744)Cgc>Tgc		plexin B2							45.0	50.0	48.0					22																	50728272		2077	4194	6271	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50728272G>A		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.742C>T	22.37:g.50728272G>A	ENSP00000409171:p.Arg248Cys					PLXNB2_ENST00000359337.4_Missense_Mutation_p.R248C	p.R248C			O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	3	882	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	248			Sema.		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.742C>T	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052144	0.75960	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000414275;ENST00000432455	T;T;T	0.19669	2.13;2.13;2.13	4.62	4.62	0.57501	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.56097	D	0.000027	T	0.54351	0.1853	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65348	-0.6190	10	0.87932	D	0	.	17.6365	0.88123	0.0:0.0:1.0:0.0	.	248	O15031	PLXB2_HUMAN	C	248	ENSP00000409171:R248C;ENSP00000352288:R248C;ENSP00000392620:R248C	ENSP00000352288:R248C	R	-	1	0	PLXNB2	49070399	1.000000	0.71417	0.935000	0.37517	0.427000	0.31564	5.934000	0.70138	2.391000	0.81399	0.462000	0.41574	CGC		0.637	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		34	23	0	0	0	1	0	34	23				
RBFOX1	54715	broad.mit.edu	37	16	7703882	7703882	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr16:7703882C>T	ENST00000550418.1	+	12	1811	c.823C>T	c.(823-825)Cgc>Tgc	p.R275C	RBFOX1_ENST00000436368.2_Missense_Mutation_p.R295C|RBFOX1_ENST00000547372.1_Missense_Mutation_p.R318C|RBFOX1_ENST00000355637.4_Missense_Mutation_p.R295C|RBFOX1_ENST00000535565.2_Missense_Mutation_p.R232C|RBFOX1_ENST00000553186.1_Missense_Mutation_p.R248C|RBFOX1_ENST00000340209.4_Missense_Mutation_p.R280C|RBFOX1_ENST00000422070.4_Missense_Mutation_p.R318C|RBFOX1_ENST00000547338.1_Missense_Mutation_p.R275C|RBFOX1_ENST00000552089.1_Missense_Mutation_p.R292C|RBFOX1_ENST00000311745.5_Missense_Mutation_p.R295C	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	275					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CCTGCGAGGCCGCGGTCGCAC	0.726																																					Ovarian(157;934 2567 15163 39509)	ENST00000340209.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.(838-840)Cgc>Tgc		RNA binding protein, fox-1 homolog (C. elegans) 1							12.0	16.0	14.0					16																	7703882		1873	3859	5732	SO:0001583	missense	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7703882C>T	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.823C>T	16.37:g.7703882C>T	ENSP00000450031:p.Arg275Cys					RBFOX1_ENST00000535565.2_Missense_Mutation_p.R232C|RBFOX1_ENST00000547338.1_Missense_Mutation_p.R275C|RBFOX1_ENST00000553186.1_Missense_Mutation_p.R248C|RBFOX1_ENST00000547372.1_Missense_Mutation_p.R318C|RBFOX1_ENST00000552089.1_Missense_Mutation_p.R292C|RBFOX1_ENST00000436368.2_Missense_Mutation_p.R295C|RBFOX1_ENST00000311745.5_Missense_Mutation_p.R295C|RBFOX1_ENST00000355637.4_Missense_Mutation_p.R295C|RBFOX1_ENST00000422070.4_Missense_Mutation_p.R318C|RBFOX1_ENST00000550418.1_Missense_Mutation_p.R275C	p.R280C			Q9NWB1	RFOX1_HUMAN			9	1135	+			275					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	c.838C>T	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	c	21.1	4.096581	0.76870	.	.	ENSG00000078328	ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T	0.39056	1.11;1.44;1.46;1.37;1.11;1.3;1.46;1.47;1.1	4.41	3.43	0.39272	.	0.357902	0.29369	N	0.012347	T	0.60011	0.2236	M	0.68952	2.095	0.58432	D	0.999996	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.999;0.998;1.0;0.99;0.994;0.996;0.992;0.996;0.993	T	0.59778	-0.7390	9	.	.	.	-6.7494	12.3865	0.55335	0.3057:0.6943:0.0:0.0	.	268;232;318;295;295;295;248;275;318	F8WAC5;F5H0M1;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;.;RFOX1_HUMAN;.	C	275;248;318;318;232;292;275;295;295;295;268;280	ENSP00000450031:R275C;ENSP00000447753:R248C;ENSP00000446842:R318C;ENSP00000391269:R318C;ENSP00000447717:R275C;ENSP00000402745:R295C;ENSP00000309117:R295C;ENSP00000347855:R295C;ENSP00000344196:R280C	.	R	+	1	0	RBFOX1	7643883	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.496000	0.53288	0.931000	0.37242	0.401000	0.26515	CGC		0.726	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		14	24	0	0	0	1	0	14	24				
MYH4	4622	broad.mit.edu	37	17	10368799	10368799	+	Silent	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr17:10368799G>A	ENST00000255381.2	-	5	575	c.465C>T	c.(463-465)atC>atT	p.I155I	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	155	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AGATGGAGAAGATATGGGGTG	0.478																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(463-465)atC>atT		myosin, heavy chain 4, skeletal muscle							164.0	171.0	169.0					17																	10368799		2203	4300	6503	SO:0001819	synonymous_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10368799G>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.465C>T	17.37:g.10368799G>A						CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.I155I	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			5	575	-			155			Myosin head-like.			Silent	SNP	ENST00000255381.2	37	c.465C>T	CCDS11154.1																																																																																				0.478	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		58	111	0	0	0	1	0	58	111				
FAM47C	442444	broad.mit.edu	37	X	37028771	37028771	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chrX:37028771G>A	ENST00000358047.3	+	1	2340	c.2288G>A	c.(2287-2289)cGc>cAc	p.R763H		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	763										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCTCATCTCCGCCCGGAGCCT	0.627																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(2287-2289)cGc>cAc		family with sequence similarity 47, member C							43.0	43.0	43.0					X																	37028771		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37028771G>A	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2288G>A	X.37:g.37028771G>A	ENSP00000367913:p.Arg763His						p.R763H	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	2340	+			763					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.2288G>A	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	4.244	0.044182	0.08196	.	.	ENSG00000198173	ENST00000358047	T	0.21191	2.02	0.924	-1.85	0.07784	.	.	.	.	.	T	0.10294	0.0252	N	0.12961	0.28	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.25012	-1.0144	9	0.44086	T	0.13	.	5.1357	0.14934	0.7389:0.0:0.2611:0.0	.	763	Q5HY64	FA47C_HUMAN	H	763	ENSP00000367913:R763H	ENSP00000367913:R763H	R	+	2	0	FAM47C	36938692	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.348000	0.01094	-1.089000	0.03073	-1.084000	0.02203	CGC		0.627	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		31	13	0	0	0	1	0	31	13				
RASGEF1B	153020	broad.mit.edu	37	4	82369372	82369372	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr4:82369372G>A	ENST00000264400.2	-	5	656	c.505C>T	c.(505-507)Cag>Tag	p.Q169*	RASGEF1B_ENST00000335927.7_Nonsense_Mutation_p.Q127*|RASGEF1B_ENST00000509081.1_Nonsense_Mutation_p.Q168*	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	169					positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						TCTTCGTACTGGCTGAGCGCA	0.463																																						ENST00000509081.1																			0				endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						c.(502-504)Cag>Tag		RasGEF domain family, member 1B							223.0	195.0	205.0					4																	82369372		2203	4300	6503	SO:0001587	stop_gained	153020				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr4:82369372G>A	AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.505C>T	4.37:g.82369372G>A	ENSP00000264400:p.Gln169*					RASGEF1B_ENST00000264400.2_Nonsense_Mutation_p.Q169*|RASGEF1B_ENST00000335927.7_Nonsense_Mutation_p.Q127*	p.Q168*			Q0VAM2	RGF1B_HUMAN			5	723	-			169					Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Nonsense_Mutation	SNP	ENST00000264400.2	37	c.502C>T	CCDS34022.1	.	.	.	.	.	.	.	.	.	.	G	37	6.481322	0.97603	.	.	ENSG00000138670	ENST00000509081;ENST00000264400;ENST00000335927;ENST00000504863	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	18.7741	0.91902	0.0:0.0:1.0:0.0	.	.	.	.	X	168;169;127;14	.	ENSP00000264400:Q169X	Q	-	1	0	RASGEF1B	82588396	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	9.263000	0.95617	2.779000	0.95612	0.591000	0.81541	CAG		0.463	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362830.1	NM_152545		41	88	0	0	0	1	0	41	88				
SLC2A2	6514	broad.mit.edu	37	3	170716165	170716165	+	Silent	SNP	A	A	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr3:170716165A>G	ENST00000314251.3	-	10	1270	c.1191T>C	c.(1189-1191)agT>agC	p.S397S	SLC2A2_ENST00000382808.4_Silent_p.S278S	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	397					carbohydrate metabolic process (GO:0005975)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transmembrane transport (GO:0035428)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	brush border (GO:0005903)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|hexose transmembrane transporter activity (GO:0015149)			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		Streptozocin(DB00428)	TGCTCACATAACTCATCCAAG	0.433																																						ENST00000314251.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1189-1191)agT>agC		solute carrier family 2 (facilitated glucose transporter), member 2							44.0	47.0	46.0					3																	170716165		2203	4300	6503	SO:0001819	synonymous_variant	6514				carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity	g.chr3:170716165A>G	J03810	CCDS3215.1	3q26.2-q27	2013-05-22			ENSG00000163581	ENSG00000163581		"""Solute carriers"""	11006	protein-coding gene	gene with protein product		138160		GLUT2		1852621	Standard	NM_000340		Approved		uc003fhe.1	P11168	OTTHUMG00000158997	ENST00000314251.3:c.1191T>C	3.37:g.170716165A>G						SLC2A2_ENST00000382808.4_Silent_p.S278S	p.S397S	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		10	1270	-	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		397					A8K481|B2R936|B7Z547|F8W8V8|Q9UCW9	Silent	SNP	ENST00000314251.3	37	c.1191T>C	CCDS3215.1																																																																																				0.433	SLC2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352834.1	NM_000340		13	35	0	0	0	1	0	13	35				
CYP2B6	1555	broad.mit.edu	37	19	41510326	41510326	+	Silent	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr19:41510326G>A	ENST00000324071.4	+	3	466	c.459G>A	c.(457-459)ctG>ctA	p.L153L	CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000330446.5_Silent_p.L113L|CYP2B6_ENST00000593831.1_Silent_p.L77L	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	153					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	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, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	CTCAGTGTCTGATAGAGGAGC	0.527																																						ENST00000324071.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(457-459)ctG>ctA		cytochrome P450, family 2, subfamily B, polypeptide 6	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						56.0	50.0	52.0					19																	41510326		2203	4300	6503	SO:0001819	synonymous_variant	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41510326G>A	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.459G>A	19.37:g.41510326G>A						CYP2B6_ENST00000330446.5_Silent_p.L113L|CYP2B6_ENST00000593831.1_Silent_p.L77L|CYP2B6_ENST00000598834.1_3'UTR	p.L153L	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		3	466	+			153					B4DWP3|Q2V565|Q9UK46	Silent	SNP	ENST00000324071.4	37	c.459G>A	CCDS12570.1																																																																																				0.527	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		19	21	0	0	0	1	0	19	21				
EPDR1	54749	broad.mit.edu	37	7	37988563	37988563	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr7:37988563T>A	ENST00000199448.4	+	2	770	c.391T>A	c.(391-393)Tcc>Acc	p.S131T	EPDR1_ENST00000423717.1_Intron|EPDR1_ENST00000559325.1_Missense_Mutation_p.S251T|EPDR1_ENST00000425345.1_Missense_Mutation_p.S70T|EPDR1_ENST00000476620.1_Missense_Mutation_p.S29T	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	131					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						TCCTCAAAACTCCACCTTTGA	0.512																																						ENST00000199448.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(391-393)Tcc>Acc		ependymin related 1							121.0	112.0	115.0					7																	37988563		2203	4300	6503	SO:0001583	missense	54749				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr7:37988563T>A	BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"""ependymin related protein 1 (zebrafish)"""			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.391T>A	7.37:g.37988563T>A	ENSP00000199448:p.Ser131Thr					EPDR1_ENST00000559325.1_Missense_Mutation_p.S251T|EPDR1_ENST00000425345.1_Missense_Mutation_p.S70T|EPDR1_ENST00000423717.1_Intron|EPDR1_ENST00000476620.1_Missense_Mutation_p.S29T	p.S131T	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN			2	770	+			131					A8K4C0|C9JYS3|Q06BL0|Q99M77	Missense_Mutation	SNP	ENST00000199448.4	37	c.391T>A	CCDS5454.2	.	.	.	.	.	.	.	.	.	.	T	24.3	4.514780	0.85389	.	.	ENSG00000086289	ENST00000476620;ENST00000199448;ENST00000425345	.	.	.	5.24	4.07	0.47477	.	0.057497	0.64402	D	0.000001	T	0.73745	0.3626	M	0.75264	2.295	0.80722	D	1	P;D	0.56746	0.896;0.977	B;P	0.59703	0.433;0.862	T	0.75510	-0.3292	9	0.59425	D	0.04	-15.8445	11.4707	0.50266	0.0:0.0:0.151:0.849	.	70;251	C9JYS3;A4D1W8	.;.	T	29;251;70	.	ENSP00000199448:S251T	S	+	1	0	EPDR1	37955088	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.427000	0.52785	0.985000	0.38656	0.533000	0.62120	TCC		0.512	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220037.3	NM_017549		19	78	0	0	0	1	0	19	78				
ATP8B4	79895	broad.mit.edu	37	15	50211036	50211036	+	Splice_Site	SNP	C	C	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr15:50211036C>A	ENST00000284509.6	-	19	2176	c.2035G>T	c.(2035-2037)Gaa>Taa	p.E679*	ATP8B4_ENST00000559829.1_Splice_Site_p.E679*	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	679						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TTCAAGTTACCTTGTTTGTCT	0.318																																						ENST00000284509.6																			0				breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73						c.e19+1		ATPase, class I, type 8B, member 4							143.0	128.0	133.0					15																	50211036		2196	4294	6490	SO:0001630	splice_region_variant	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50211036C>A	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.2035+1G>T	15.37:g.50211036C>A						ATP8B4_ENST00000559829.1_Splice_Site_p.E679_splice	p.E679_splice	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	19	2176	-		all_lung(180;0.00183)	679					Q9H727	Splice_Site	SNP	ENST00000284509.6	37	c.2035_splice	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	C	40	8.220243	0.98712	.	.	ENSG00000104043	ENST00000284509	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5077	0.84277	0.0:1.0:0.0:0.0	.	.	.	.	X	679	.	.	E	-	1	0	ATP8B4	47998328	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.468000	0.80943	2.579000	0.87056	0.650000	0.86243	GAA		0.318	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837	Nonsense_Mutation	12	51	1	0	2.27111e-07	1	2.35306e-07	12	51				
UNC79	57578	broad.mit.edu	37	14	94088956	94088956	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr14:94088956G>C	ENST00000393151.2	+	30	5377	c.5377G>C	c.(5377-5379)Gat>Cat	p.D1793H	UNC79_ENST00000555664.1_Missense_Mutation_p.D1793H|UNC79_ENST00000553484.1_Missense_Mutation_p.D1815H|UNC79_ENST00000256339.4_Missense_Mutation_p.D1616H			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1793					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AGTTCCCGAAGATGCAGAGAA	0.542																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(5443-5445)Gat>Cat		unc-79 homolog (C. elegans)							67.0	61.0	63.0					14																	94088956		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94088956G>C	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.5377G>C	14.37:g.94088956G>C	ENSP00000376858:p.Asp1793His					UNC79_ENST00000256339.4_Missense_Mutation_p.D1616H|UNC79_ENST00000555664.1_Missense_Mutation_p.D1793H|UNC79_ENST00000393151.2_Missense_Mutation_p.D1793H	p.D1815H			Q9P2D8	UNC79_HUMAN			31	5597	+			1793					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.5443G>C		.	.	.	.	.	.	.	.	.	.	G	13.77	2.336655	0.41398	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.25414	1.83;1.8;1.84;1.83	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.38374	0.1038	L	0.32530	0.975	0.58432	D	0.999993	D	0.53885	0.963	P	0.56960	0.81	T	0.12578	-1.0542	10	0.87932	D	0	-21.1589	19.535	0.95247	0.0:0.0:1.0:0.0	.	1815	C9JQL1	.	H	1616;1793;1815;1793;1815	ENSP00000256339:D1616H;ENSP00000450868:D1793H;ENSP00000451360:D1815H;ENSP00000376858:D1793H	ENSP00000256339:D1616H	D	+	1	0	KIAA1409	93158709	1.000000	0.71417	0.848000	0.33437	0.085000	0.17905	7.628000	0.83189	2.629000	0.89072	0.484000	0.47621	GAT		0.542	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		23	44	0	0	0	1	0	23	44				
NRAP	4892	broad.mit.edu	37	10	115393949	115393949	+	Silent	SNP	G	G	A	rs141308047		TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr10:115393949G>A	ENST00000359988.3	-	15	1693	c.1449C>T	c.(1447-1449)atC>atT	p.I483I	NRAP_ENST00000360478.3_Silent_p.I448I|NRAP_ENST00000369358.4_Silent_p.I483I|NRAP_ENST00000369360.3_Silent_p.I448I	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TCAACTTGTCGATGCTCTGCC	0.458													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19674	0.0		0.0	False		,,,				2504	0.0					ENST00000369358.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(1447-1449)atC>atT		nebulin-related anchoring protein		G	,	3,4403	8.1+/-20.4	1,1,2201	188.0	161.0	170.0		1344,1449	-10.3	0.3	10	dbSNP_134	170	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	NRAP	NM_006175.3,NM_198060.2	,	1,3,6499	AA,AG,GG		0.0233,0.0681,0.0384	,	448/1696,483/1731	115393949	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115393949G>A		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.1449C>T	10.37:g.115393949G>A						NRAP_ENST00000359988.3_Silent_p.I483I|NRAP_ENST00000360478.3_Silent_p.I448I|NRAP_ENST00000369360.3_Silent_p.I448I	p.I483I			Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	15	1693	-		Colorectal(252;0.0233)|Breast(234;0.188)	483						Silent	SNP	ENST00000359988.3	37	c.1449C>T	CCDS7579.1																																																																																				0.458	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		50	53	0	0	0	1	0	50	53				
LMO7	4008	broad.mit.edu	37	13	76395471	76395471	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr13:76395471A>G	ENST00000321797.8	+	12	2388	c.1667A>G	c.(1666-1668)gAa>gGa	p.E556G	LMO7_ENST00000465261.2_Missense_Mutation_p.E556G|LMO7_ENST00000341547.4_Missense_Mutation_p.E507G|LMO7_ENST00000526202.1_Missense_Mutation_p.E406G|LMO7_ENST00000377534.3_Missense_Mutation_p.E841G|LMO7_ENST00000357063.3_Missense_Mutation_p.E841G			Q8WWI1	LMO7_HUMAN	LIM domain 7	841					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TATCCTTCAGAAATTCCCAAA	0.448																																						ENST00000357063.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(2521-2523)gAa>gGa		LIM domain 7							88.0	86.0	87.0					13																	76395471		2203	4300	6503	SO:0001583	missense	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76395471A>G	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.1667A>G	13.37:g.76395471A>G	ENSP00000317802:p.Glu556Gly					LMO7_ENST00000526202.1_Missense_Mutation_p.E406G|LMO7_ENST00000321797.8_Missense_Mutation_p.E556G|LMO7_ENST00000377534.3_Missense_Mutation_p.E841G|LMO7_ENST00000465261.2_Missense_Mutation_p.E556G|LMO7_ENST00000341547.4_Missense_Mutation_p.E507G	p.E841G			Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	15	3782	+		Breast(118;0.0992)	841					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000321797.8	37	c.2522A>G		.	.	.	.	.	.	.	.	.	.	A	15.30	2.791331	0.50102	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000321797;ENST00000526202;ENST00000465261	T;T;T;T;T;T;T	0.49139	1.37;1.37;1.38;0.79;0.81;0.79;0.79	6.05	6.05	0.98169	.	0.487136	0.24640	N	0.036809	T	0.67887	0.2941	M	0.73598	2.24	0.26300	N	0.977997	D;D;B;D;D	0.76494	0.998;0.999;0.417;0.999;0.983	P;D;B;D;P	0.71656	0.896;0.974;0.274;0.941;0.857	T	0.64071	-0.6493	10	0.45353	T	0.12	-22.7096	15.1642	0.72807	1.0:0.0:0.0:0.0	.	406;507;841;556;789	E9PMS6;Q8WWI1-3;Q8WWI1;E9PLH4;F8J2B5	.;.;LMO7_HUMAN;.;.	G	507;841;841;455;556;406;556	ENSP00000342112:E507G;ENSP00000349571:E841G;ENSP00000366757:E841G;ENSP00000366719:E455G;ENSP00000317802:E556G;ENSP00000431129:E406G;ENSP00000433352:E556G	ENSP00000317802:E556G	E	+	2	0	LMO7	75293472	0.913000	0.31002	0.342000	0.25602	0.052000	0.14988	3.132000	0.50523	2.320000	0.78422	0.528000	0.53228	GAA		0.448	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358		21	51	0	0	0	1	0	21	51				
KIAA2022	340533	broad.mit.edu	37	X	73962753	73962753	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chrX:73962753G>A	ENST00000055682.6	-	3	2250	c.1639C>T	c.(1639-1641)Cgc>Tgc	p.R547C		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	547					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CCTTTAAAGCGATTAATGATG	0.403																																						ENST00000373468.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(1639-1641)Cgc>Tgc		KIAA2022							103.0	90.0	95.0					X																	73962753		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73962753G>A		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.1639C>T	X.37:g.73962753G>A	ENSP00000055682:p.Arg547Cys					KIAA2022_ENST00000055682.5_Missense_Mutation_p.R547C	p.R547C			Q5QGS0	K2022_HUMAN			3	2290	-			547					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.1639C>T	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.448619	0.43531	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.66099	-0.19;-0.19	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.76695	0.4023	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78846	-0.2043	10	0.87932	D	0	-7.0519	12.9944	0.58638	0.0:0.0:0.7245:0.2755	.	547	Q5QGS0	K2022_HUMAN	C	547	ENSP00000362567:R547C;ENSP00000055682:R547C	ENSP00000055682:R547C	R	-	1	0	KIAA2022	73879478	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.067000	0.50010	2.463000	0.83235	0.600000	0.82982	CGC		0.403	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		39	16	0	0	0	1	0	39	16				
C2orf40	84417	broad.mit.edu	37	2	106690370	106690370	+	Silent	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr2:106690370C>T	ENST00000238044.3	+	3	265	c.156C>T	c.(154-156)gcC>gcT	p.A52A	C2orf40_ENST00000409944.1_Silent_p.A16A|C2orf40_ENST00000489174.1_3'UTR	NM_032411.2	NP_115787.1	Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	52			A -> T (in dbSNP:rs10187689).		cellular senescence (GO:0090398)|cyclin catabolic process (GO:0008054)|G1 to G0 transition (GO:0070314)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)				lung(7)|urinary_tract(1)	8						CTAAAGTGGCCGTTGATGAGA	0.527																																						ENST00000409944.1																			0				lung(7)|urinary_tract(1)	8						c.(46-48)gcC>gcT		chromosome 2 open reading frame 40							127.0	140.0	136.0					2																	106690370		2203	4300	6503	SO:0001819	synonymous_variant	84417					extracellular region|transport vesicle		g.chr2:106690370C>T	BC021742	CCDS2072.1	2q12.2	2014-01-28			ENSG00000119147	ENSG00000119147			24642	protein-coding gene	gene with protein product	"""esophageal cancer related gene 4 protein"""	611752				12800218	Standard	NM_032411		Approved	ECRG4, augurin	uc010fjf.3	Q9H1Z8	OTTHUMG00000130921	ENST00000238044.3:c.156C>T	2.37:g.106690370C>T						C2orf40_ENST00000238044.3_Silent_p.A52A|C2orf40_ENST00000489174.1_3'UTR	p.A16A			Q9H1Z8	AUGN_HUMAN			4	279	+			52					D3DVK2	Silent	SNP	ENST00000238044.3	37	c.48C>T	CCDS2072.1																																																																																				0.527	C2orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253515.2	NM_032411		72	116	0	0	0	1	0	72	116				
LRRK2	120892	broad.mit.edu	37	12	40681307	40681307	+	Silent	SNP	T	T	C			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr12:40681307T>C	ENST00000298910.7	+	20	2713	c.2655T>C	c.(2653-2655)agT>agC	p.S885S	LRRK2_ENST00000343742.2_Silent_p.S885S	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	885					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTATGGACAGTGTGTTTGCTC	0.373																																						ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(2653-2655)agT>agC		leucine-rich repeat kinase 2							119.0	113.0	115.0					12																	40681307		2203	4300	6503	SO:0001819	synonymous_variant	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40681307T>C	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.2655T>C	12.37:g.40681307T>C						LRRK2_ENST00000343742.2_Silent_p.S885S	p.S885S	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			20	2713	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	885					A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	ENST00000298910.7	37	c.2655T>C	CCDS31774.1																																																																																				0.373	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		8	47	0	0	0	1	0	8	47				
NDST4	64579	broad.mit.edu	37	4	115891710	115891710	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr4:115891710A>T	ENST00000264363.2	-	4	1775	c.1097T>A	c.(1096-1098)cTt>cAt	p.L366H		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	366	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CCGAAGTAAAAGGTCATCTCC	0.393																																						ENST00000264363.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(1096-1098)cTt>cAt		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4							127.0	113.0	117.0					4																	115891710		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115891710A>T	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1097T>A	4.37:g.115891710A>T	ENSP00000264363:p.Leu366His						p.L366H	NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	4	1775	-		Ovarian(17;0.156)	366			Heparan sulfate N-deacetylase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.1097T>A	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	A	14.39	2.522415	0.44866	.	.	ENSG00000138653	ENST00000264363	T	0.39229	1.09	5.79	4.58	0.56647	.	0.062516	0.64402	D	0.000004	T	0.39655	0.1086	L	0.52759	1.655	0.47374	D	0.999409	B	0.15141	0.012	B	0.24394	0.053	T	0.16660	-1.0395	10	0.42905	T	0.14	.	12.9199	0.58226	0.8643:0.1357:0.0:0.0	.	366	Q9H3R1	NDST4_HUMAN	H	366	ENSP00000264363:L366H	ENSP00000264363:L366H	L	-	2	0	NDST4	116111159	1.000000	0.71417	0.788000	0.31933	0.951000	0.60555	6.159000	0.71856	0.979000	0.38497	0.482000	0.46254	CTT		0.393	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		14	22	0	0	0	1	0	14	22				
ZNF112	7771	broad.mit.edu	37	19	44832686	44832686	+	Missense_Mutation	SNP	T	T	G	rs201811934		TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr19:44832686T>G	ENST00000337401.4	-	5	1730	c.1642A>C	c.(1642-1644)Aca>Cca	p.T548P	ZNF112_ENST00000354340.4_Missense_Mutation_p.T542P|ZNF112_ENST00000536500.1_Missense_Mutation_p.T565P	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	548					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TTCTCTCCTGTGTGGACTCTC	0.423																																						ENST00000354340.4																			0											c.(1624-1626)Aca>Cca		zinc finger protein 112							133.0	137.0	135.0					19																	44832686		2203	4300	6503	SO:0001583	missense	7665							g.chr19:44832686T>G	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.1642A>C	19.37:g.44832686T>G	ENSP00000337081:p.Thr548Pro					ZNF112_ENST00000337401.4_Missense_Mutation_p.T548P|ZNF112_ENST00000536500.1_Missense_Mutation_p.T565P	p.T542P	NM_013380.3	NP_037512.3					4	1675	-								A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	c.1624A>C	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.934784	0.73442	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.25749	1.78;1.78;1.78	5.1	5.1	0.69264	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35067	N	0.003480	T	0.52853	0.1760	M	0.80332	2.49	0.44275	D	0.997132	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.989;0.982;0.989	T	0.59434	-0.7455	10	0.87932	D	0	-5.0979	14.167	0.65483	0.0:0.0:0.0:1.0	.	547;565;548	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	P	548;548;542;565;547	ENSP00000337081:T548P;ENSP00000346305:T542P;ENSP00000441990:T565P	ENSP00000253426:T547P	T	-	1	0	ZNF285	49524526	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.920000	0.48844	2.055000	0.61198	0.533000	0.62120	ACA		0.423	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		41	191	0	0	0	1	0	41	191				
GALNT8	26290	broad.mit.edu	37	12	4835920	4835920	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr12:4835920G>A	ENST00000252318.2	+	2	771	c.434G>A	c.(433-435)cGg>cAg	p.R145Q	RP11-234B24.6_ENST00000544741.2_3'UTR	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	145					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GACCTCTTCCGGAAGTTTGGT	0.562																																					Colon(108;631 1558 7270 20097 39846)	ENST00000252318.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						c.(433-435)cGg>cAg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)							74.0	68.0	70.0					12																	4835920		2203	4300	6503	SO:0001583	missense	26290					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:4835920G>A	AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4130	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 8"""	606250	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"""			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.434G>A	12.37:g.4835920G>A	ENSP00000252318:p.Arg145Gln					RP11-234B24.6_ENST00000544741.2_3'UTR	p.R145Q	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN			2	771	+			145					B2RU02	Missense_Mutation	SNP	ENST00000252318.2	37	c.434G>A	CCDS8533.1	.	.	.	.	.	.	.	.	.	.	G	2.505	-0.314259	0.05422	.	.	ENSG00000130035	ENST00000252318	T	0.50813	0.73	4.02	-1.67	0.08238	.	0.950250	0.08584	N	0.924050	T	0.21550	0.0519	N	0.25144	0.715	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.25676	-1.0125	10	0.02654	T	1	.	0.3425	0.00336	0.3418:0.2061:0.2608:0.1913	.	145	Q9NY28	GALT8_HUMAN	Q	145	ENSP00000252318:R145Q	ENSP00000252318:R145Q	R	+	2	0	GALNT8	4706181	0.004000	0.15560	0.030000	0.17652	0.910000	0.53928	0.528000	0.23002	-0.134000	0.11516	-0.302000	0.09304	CGG		0.562	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2	NM_017417		17	64	0	0	0	1	0	17	64				
RIMS2	9699	broad.mit.edu	37	8	105025791	105025791	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr8:105025791A>T	ENST00000507740.1	+	16	2844	c.2608A>T	c.(2608-2610)Agg>Tgg	p.R870W	RIMS2_ENST00000406091.3_Missense_Mutation_p.R1056W|RIMS2_ENST00000262231.10_Missense_Mutation_p.R895W|RIMS2_ENST00000436393.2_Intron	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1118	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AAACCTCATGAGGTCGATGCC	0.498										HNSCC(12;0.0054)																												ENST00000507740.1																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(2608-2610)Agg>Tgg		regulating synaptic membrane exocytosis 2							129.0	127.0	128.0					8																	105025791		2001	4162	6163	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105025791A>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000507740.1:c.2608A>T	8.37:g.105025791A>T	ENSP00000423559:p.Arg870Trp	HNSCC(12;0.0054)				RIMS2_ENST00000406091.3_Missense_Mutation_p.R1056W|RIMS2_ENST00000436393.2_Intron|RIMS2_ENST00000262231.10_Missense_Mutation_p.R895W	p.R870W	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		16	2844	+			1118			C2 1.		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000507740.1	37	c.2608A>T	CCDS43761.1	.	.	.	.	.	.	.	.	.	.	A	19.79	3.892872	0.72524	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894	T;T;T;T;T	0.20598	2.06;2.61;2.31;2.29;2.1	5.58	5.58	0.84498	.	.	.	.	.	T	0.29458	0.0734	N	0.14661	0.345	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.996;0.996	D;D;P;P	0.71870	0.975;0.936;0.794;0.794	T	0.14337	-1.0476	9	0.48119	T	0.1	.	15.4299	0.75084	1.0:0.0:0.0:0.0	.	1118;895;870;1056	Q9UQ26;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.	W	1056;1093;1056;1118;895;870;870	ENSP00000427018:R1056W;ENSP00000384892:R1056W;ENSP00000262231:R895W;ENSP00000423559:R870W;ENSP00000386228:R870W	ENSP00000262231:R895W	R	+	1	2	RIMS2	105094967	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.778000	0.91785	2.130000	0.65690	0.377000	0.23210	AGG		0.498	RIMS2-005	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367215.1	NM_001100117		28	92	0	0	0	1	0	28	92				
RGAG1	57529	broad.mit.edu	37	X	109694160	109694160	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chrX:109694160G>A	ENST00000465301.2	+	3	561	c.315G>A	c.(313-315)atG>atA	p.M105I	RGAG1_ENST00000540313.1_Missense_Mutation_p.M105I	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	105										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CATTGCTAATGCCAGCCTCAG	0.527																																						ENST00000465301.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(313-315)atG>atA		retrotransposon gag domain containing 1							151.0	137.0	142.0					X																	109694160		2203	4300	6503	SO:0001583	missense	57529							g.chrX:109694160G>A	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.315G>A	X.37:g.109694160G>A	ENSP00000419786:p.Met105Ile					RGAG1_ENST00000540313.1_Missense_Mutation_p.M105I	p.M105I	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN			3	561	+			105					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.315G>A	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.610646	0.46527	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.56444	0.46;0.46	4.19	2.39	0.29439	.	0.000000	0.41938	D	0.000781	T	0.51449	0.1675	L	0.29908	0.895	0.09310	N	0.999991	P	0.52577	0.954	D	0.66351	0.943	T	0.31308	-0.9948	9	.	.	.	-0.8188	4.4167	0.11459	0.1182:0.0:0.6623:0.2195	.	105	Q8NET4	RGAG1_HUMAN	I	105	ENSP00000419786:M105I;ENSP00000441452:M105I	.	M	+	3	0	RGAG1	109580816	1.000000	0.71417	0.068000	0.19968	0.830000	0.47004	3.260000	0.51523	0.506000	0.28125	0.600000	0.82982	ATG		0.527	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		112	38	0	0	0	1	0	112	38				
WEE2	494551	broad.mit.edu	37	7	141408764	141408764	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr7:141408764C>T	ENST00000397541.2	+	1	612	c.206C>T	c.(205-207)tCt>tTt	p.S69F	WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000462383.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	69					female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CTCGACACATCTTCGGAAAAA	0.522																																						ENST00000397541.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						c.(205-207)tCt>tTt		WEE1 homolog 2 (S. pombe)							165.0	162.0	163.0					7																	141408764		1967	4158	6125	SO:0001583	missense	494551				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr7:141408764C>T	AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.206C>T	7.37:g.141408764C>T	ENSP00000380675:p.Ser69Phe					WEE2-AS1_ENST00000488785.1_RNA	p.S69F	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN			1	612	+	Melanoma(164;0.0171)		69						Missense_Mutation	SNP	ENST00000397541.2	37	c.206C>T	CCDS43660.1	.	.	.	.	.	.	.	.	.	.	c	10.46	1.357650	0.24598	.	.	ENSG00000214102	ENST00000397541	T	0.23552	1.9	4.78	-5.05	0.02955	.	1.951500	0.03431	N	0.207863	T	0.11580	0.0282	N	0.12746	0.255	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.16217	-1.0410	10	0.20046	T	0.44	3.6019	3.8154	0.08814	0.1049:0.4864:0.1212:0.2875	.	69	P0C1S8	WEE2_HUMAN	F	69	ENSP00000380675:S69F	ENSP00000380675:S69F	S	+	2	0	WEE2	141055233	0.000000	0.05858	0.000000	0.03702	0.222000	0.24845	-1.054000	0.03496	-1.071000	0.03145	0.651000	0.88453	TCT		0.522	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	NM_001105558		12	179	0	0	0	1	0	12	179				
FBXW7	55294	broad.mit.edu	37	4	153247244	153247244	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr4:153247244C>G	ENST00000281708.4	-	10	2787	c.1558G>C	c.(1558-1560)Gat>Cat	p.D520H	FBXW7_ENST00000263981.5_Missense_Mutation_p.D440H|FBXW7_ENST00000603841.1_Missense_Mutation_p.D520H|FBXW7_ENST00000296555.5_Missense_Mutation_p.D402H|FBXW7_ENST00000603548.1_Missense_Mutation_p.D520H|FBXW7_ENST00000393956.3_Missense_Mutation_p.D344H	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	520					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.D520N(3)|p.D520Y(2)|p.D440Y(1)|p.?(1)|p.D281Y(1)|p.D440N(1)|p.D281N(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACCATAAAATCATATGCTCCA	0.433			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		10	Substitution - Missense(9)|Unknown(1)	p.D520N(3)|p.D520Y(2)|p.D440Y(1)|p.?(1)|p.D281Y(1)|p.D440N(1)|p.D281N(1)	large_intestine(9)|haematopoietic_and_lymphoid_tissue(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1558-1560)Gat>Cat		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							199.0	191.0	194.0					4																	153247244		2203	4300	6503	SO:0001583	missense	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153247244C>G	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1558G>C	4.37:g.153247244C>G	ENSP00000281708:p.Asp520His					FBXW7_ENST00000603841.1_Missense_Mutation_p.D520H|FBXW7_ENST00000393956.3_Missense_Mutation_p.D344H|FBXW7_ENST00000296555.5_Missense_Mutation_p.D402H|FBXW7_ENST00000263981.5_Missense_Mutation_p.D440H|FBXW7_ENST00000603548.1_Missense_Mutation_p.D520H	p.D520H	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			10	2787	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	520					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1558G>C	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178382	0.78564	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51	5.72	4.87	0.63330	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.043028	0.85682	D	0.000000	D	0.97213	0.9089	H	0.99590	4.645	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.99342	1.0912	10	0.87932	D	0	-22.8387	16.4274	0.83818	0.1326:0.8674:0.0:0.0	.	344;520;402;440	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	H	520;402;440;344	ENSP00000281708:D520H;ENSP00000296555:D402H;ENSP00000263981:D440H;ENSP00000377528:D344H	ENSP00000263981:D440H	D	-	1	0	FBXW7	153466694	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.744000	0.85034	1.533000	0.49186	-0.188000	0.12872	GAT		0.433	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			106	44	0	0	0	1	0	106	44				
ZIC4	84107	broad.mit.edu	37	3	147114186	147114186	+	Silent	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr3:147114186G>A	ENST00000383075.3	-	3	653	c.141C>T	c.(139-141)caC>caT	p.H47H	ZIC4_ENST00000473123.1_Silent_p.H47H|ZIC4_ENST00000484399.1_Silent_p.H47H|ZIC4_ENST00000525172.2_Silent_p.H97H|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000425731.3_Silent_p.H85H	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	47						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GAGGCTCCTCGTGGAGGCCCG	0.672																																						ENST00000383075.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						c.(139-141)caC>caT		Zic family member 4							16.0	21.0	19.0					3																	147114186		1916	4115	6031	SO:0001819	synonymous_variant	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147114186G>A	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.141C>T	3.37:g.147114186G>A						ZIC4_ENST00000425731.3_Silent_p.H85H|ZIC4_ENST00000484399.1_Silent_p.H47H|ZIC4_ENST00000525172.2_Silent_p.H97H|ZIC4_ENST00000473123.1_Silent_p.H47H|ZIC4_ENST00000491672.1_Intron	p.H47H	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN			3	653	-			47					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Silent	SNP	ENST00000383075.3	37	c.141C>T	CCDS43160.1																																																																																				0.672	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			4	29	0	0	0	1	0	4	29				
DNAH8	1769	broad.mit.edu	37	6	38862507	38862507	+	Missense_Mutation	SNP	C	C	T	rs370299465		TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr6:38862507C>T	ENST00000359357.3	+	57	8217	c.7963C>T	c.(7963-7965)Cat>Tat	p.H2655Y	DNAH8_ENST00000449981.2_Missense_Mutation_p.H2872Y|DNAH8_ENST00000441566.1_Missense_Mutation_p.H2619Y			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2655	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTCTAAATTTCATTACATCTT	0.363																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(7963-7965)Cat>Tat		dynein, axonemal, heavy chain 8							83.0	80.0	81.0					6																	38862507		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38862507C>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.7963C>T	6.37:g.38862507C>T	ENSP00000352312:p.His2655Tyr					DNAH8_ENST00000449981.2_Missense_Mutation_p.H2872Y|DNAH8_ENST00000441566.1_Missense_Mutation_p.H2619Y	p.H2655Y							57	8217	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.7963C>T		.	.	.	.	.	.	.	.	.	.	C	27.5	4.837076	0.91117	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.46063	0.88;0.88;0.88	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.77698	0.4169	H	0.98833	4.345	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87424	0.2384	10	0.87932	D	0	.	19.0209	0.92915	0.0:1.0:0.0:0.0	.	2655	Q96JB1	DYH8_HUMAN	Y	2860;2860;2655;2619	ENSP00000333363:H2860Y;ENSP00000352312:H2655Y;ENSP00000402294:H2619Y	ENSP00000333363:H2860Y	H	+	1	0	DNAH8	38970485	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.699000	0.84547	2.469000	0.83416	0.557000	0.71058	CAT		0.363	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		24	8	0	0	0	1	0	24	8				
MAP7D1	55700	broad.mit.edu	37	1	36638137	36638137	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr1:36638137G>A	ENST00000373151.2	+	4	749	c.533G>A	c.(532-534)cGc>cAc	p.R178H	MAP7D1_ENST00000316156.4_Missense_Mutation_p.R178H|MAP7D1_ENST00000373150.4_Missense_Mutation_p.R178H|MAP7D1_ENST00000474796.1_3'UTR	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	178					microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				CTCCAGGAGCGCCGGCGCCGG	0.642																																						ENST00000316156.4																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19						c.(532-534)cGc>cAc		MAP7 domain containing 1							17.0	19.0	18.0					1																	36638137		2202	4296	6498	SO:0001583	missense	55700					cytoplasm|spindle		g.chr1:36638137G>A	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.533G>A	1.37:g.36638137G>A	ENSP00000362244:p.Arg178His					MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000373151.2_Missense_Mutation_p.R178H|MAP7D1_ENST00000373150.4_Missense_Mutation_p.R178H	p.R178H			Q3KQU3	MA7D1_HUMAN			4	986	+		Myeloproliferative disorder(586;0.0393)	178					D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Missense_Mutation	SNP	ENST00000373151.2	37	c.533G>A	CCDS30673.1	.	.	.	.	.	.	.	.	.	.	G	35	5.419298	0.96092	.	.	ENSG00000116871	ENST00000429533;ENST00000316156;ENST00000373150;ENST00000373151;ENST00000530729	T;T;T;T;T	0.12569	2.67;2.67;2.67;2.67;3.47	5.41	5.41	0.78517	.	0.000000	0.40385	N	0.001105	T	0.39118	0.1066	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.998	T	0.15492	-1.0435	10	0.87932	D	0	-13.4455	17.7518	0.88436	0.0:0.0:1.0:0.0	.	178;178;178	Q3KQU3-2;Q3KQU3-4;Q3KQU3	.;.;MA7D1_HUMAN	H	139;178;178;178;139	ENSP00000390091:R139H;ENSP00000320228:R178H;ENSP00000362243:R178H;ENSP00000362244:R178H;ENSP00000435126:R139H	ENSP00000320228:R178H	R	+	2	0	MAP7D1	36410724	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	8.620000	0.90943	2.532000	0.85374	0.655000	0.94253	CGC		0.642	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067		13	7	0	0	0	1	0	13	7				
NBPF12	149013	broad.mit.edu	37	1	146397407	146397407	+	Missense_Mutation	SNP	G	G	T	rs587698123	byFrequency	TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr1:146397407G>T	ENST00000442909.2	+	6	1060	c.224G>T	c.(223-225)cGa>cTa	p.R75L	NBPF12_ENST00000446760.2_Missense_Mutation_p.R75L|NBPF12_ENST00000309471.8_Intron			Q5TAG4	NBPFC_HUMAN	neuroblastoma breakpoint family, member 12	0	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				ovary(2)	2						AGGAATGAGCGACAGTTCAAG	0.527													.|||	34	0.00678914	0.0242	0.0	5008	,	,		18522	0.0		0.001	False		,,,				2504	0.001					ENST00000442909.2																			0				ovary(2)	2						c.(223-225)cGa>cTa		neuroblastoma breakpoint family, member 12																																				SO:0001583	missense	149013							g.chr1:146397407G>T	BG154169	CCDS72881.1	1q21.1	2013-01-17	2011-06-28	2011-06-28	ENSG00000186275	ENSG00000268043		"""neuroblastoma breakpoint family"""	24297	protein-coding gene	gene with protein product		608607	"""KIAA1245"""	KIAA1245		11948409	Standard	NM_001278141		Approved	COAS1		Q5TAG4	OTTHUMG00000043708	ENST00000442909.2:c.224G>T	1.37:g.146397407G>T	ENSP00000391116:p.Arg75Leu					NBPF12_ENST00000309471.8_Intron|NBPF12_ENST00000446760.2_Missense_Mutation_p.R75L	p.R75L							6	1060	+								O95877	Missense_Mutation	SNP	ENST00000442909.2	37	c.224G>T		.	.	.	.	.	.	.	.	.	.	N	2.535	-0.307722	0.05458	.	.	ENSG00000186275	ENST00000446760;ENST00000442909	T;T	0.03553	4.11;3.89	1.23	-0.0787	0.13714	.	.	.	.	.	T	0.00271	0.0008	N	0.00583	-1.355	0.09310	N	1	.	.	.	.	.	.	T	0.42548	-0.9445	7	0.02654	T	1	.	4.3325	0.11071	0.0:0.0:0.4642:0.5358	.	.	.	.	L	75	ENSP00000396525:R75L;ENSP00000391116:R75L	ENSP00000391116:R75L	R	+	2	0	NBPF12	144766756	0.002000	0.14202	0.002000	0.10522	0.001000	0.01503	-0.602000	0.05680	-0.025000	0.13918	0.369000	0.22263	CGA		0.527	NBPF12-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000102086.3	XM_003119146		12	189	1	0	2.87052e-16	1	3.13573e-16	12	189				
CNOT1	23019	broad.mit.edu	37	16	58571071	58571071	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr16:58571071C>T	ENST00000317147.5	-	39	5800	c.5468G>A	c.(5467-5469)cGt>cAt	p.R1823H	CNOT1_ENST00000245138.4_Missense_Mutation_p.R674H|CNOT1_ENST00000569240.1_Missense_Mutation_p.R1818H	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1823					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TCCATGAGCACGATCAATCAT	0.468																																						ENST00000317147.5																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(5467-5469)cGt>cAt		CCR4-NOT transcription complex, subunit 1							180.0	142.0	155.0					16																	58571071		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58571071C>T	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.5468G>A	16.37:g.58571071C>T	ENSP00000320949:p.Arg1823His					CNOT1_ENST00000245138.4_Missense_Mutation_p.R674H|CNOT1_ENST00000569240.1_Missense_Mutation_p.R1818H	p.R1823H	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	39	5800	-			1823					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.5468G>A	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	C	34	5.380839	0.95945	.	.	ENSG00000125107	ENST00000317147;ENST00000245138;ENST00000394200	T	0.47177	0.85	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.66076	0.2753	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;0.989;0.997	P;P;P	0.60068	0.868;0.715;0.763	T	0.64740	-0.6336	10	0.48119	T	0.1	.	18.5012	0.90882	0.0:1.0:0.0:0.0	.	674;1823;1818	B5MDN3;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	H	1823;674;1818	ENSP00000320949:R1823H	ENSP00000245138:R674H	R	-	2	0	CNOT1	57128572	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.809000	0.96659	0.655000	0.94253	CGT		0.468	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		8	82	0	0	0	1	0	8	82				
KCNJ12	3768	broad.mit.edu	37	17	21319835	21319835	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr17:21319835G>A	ENST00000583088.1	+	3	2076	c.1181G>A	c.(1180-1182)gGa>gAa	p.G394E	KCNJ12_ENST00000331718.5_Missense_Mutation_p.G394E	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	394					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	GAGGCGGACGGAGACCAGGAC	0.657										Prostate(3;0.18)																												ENST00000583088.1																			0				NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70						c.(1180-1182)gGa>gAa		potassium inwardly-rectifying channel, subfamily J, member 12							55.0	53.0	54.0					17																	21319835		2203	4300	6503	SO:0001583	missense	3768							g.chr17:21319835G>A	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.1181G>A	17.37:g.21319835G>A	ENSP00000463778:p.Gly394Glu	Prostate(3;0.18)				KCNJ12_ENST00000331718.5_Missense_Mutation_p.G394E	p.G394E	NM_021012.4	NP_066292.2				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	2076	+								O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.1181G>A	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	G	5.552	0.286704	0.10513	.	.	ENSG00000184185	ENST00000331718	D	0.86562	-2.14	5.66	-5.14	0.02875	.	0.532647	0.19576	N	0.110986	T	0.65026	0.2652	N	0.12746	0.255	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.60727	-0.7206	10	0.02654	T	1	.	8.5759	0.33598	0.3762:0.5108:0.113:0.0	.	394	Q14500	IRK12_HUMAN	E	394	ENSP00000328150:G394E	ENSP00000328150:G394E	G	+	2	0	KCNJ12	21260428	0.140000	0.22579	0.000000	0.03702	0.356000	0.29392	-0.125000	0.10579	-0.614000	0.05687	0.655000	0.94253	GGA		0.657	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		4	54	0	0	0	1	0	4	54				
PLRG1	5356	broad.mit.edu	37	4	155459166	155459166	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr4:155459166T>C	ENST00000499023.2	-	13	1372	c.1246A>G	c.(1246-1248)Att>Gtt	p.I416V	PLRG1_ENST00000302078.5_Missense_Mutation_p.I407V|PLRG1_ENST00000393905.2_Missense_Mutation_p.I416V	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	416					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|protein localization to nucleus (GO:0034504)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				AATGTGTTAATAATAGCATTA	0.308																																						ENST00000499023.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22						c.(1246-1248)Att>Gtt		pleiotropic regulator 1							46.0	48.0	48.0					4																	155459166		2200	4294	6494	SO:0001583	missense	5356					catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity	g.chr4:155459166T>C	AF044333	CCDS34083.1, CCDS56341.1	4q31.2-q32.1	2013-01-10	2011-05-19		ENSG00000171566	ENSG00000171566		"""WD repeat domain containing"""	9089	protein-coding gene	gene with protein product	"""transport and golgi organization 4 homolog (Drosophila)"""	605961	"""pleiotropic regulator 1 (PRL1, Arabidopsis homolog)"", ""pleiotropic regulator 1 (PRL1 homolog, Arabidopsis)"""				Standard	NM_002669		Approved	PRL1, Prp46, PRPF46, Cwc1, TANGO4	uc003iny.3	O43660	OTTHUMG00000161411	ENST00000499023.2:c.1246A>G	4.37:g.155459166T>C	ENSP00000424417:p.Ile416Val					PLRG1_ENST00000393905.2_Missense_Mutation_p.I416V|PLRG1_ENST00000302078.5_Missense_Mutation_p.I407V	p.I416V	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN			13	1372	-	all_hematologic(180;0.215)	Renal(120;0.0854)	416					B3KMK4|Q3KQY5|Q8WUD8	Missense_Mutation	SNP	ENST00000499023.2	37	c.1246A>G	CCDS34083.1	.	.	.	.	.	.	.	.	.	.	T	12.52	1.961567	0.34659	.	.	ENSG00000171566	ENST00000499023;ENST00000393905;ENST00000503251;ENST00000302078	T;T;T;T	0.64618	0.72;0.72;-0.11;0.72	5.71	4.51	0.55191	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.45256	0.1333	N	0.16098	0.37	0.58432	D	0.999998	B;B	0.26775	0.062;0.159	B;B	0.38225	0.017;0.268	T	0.34477	-0.9827	10	0.02654	T	1	-26.4572	11.9553	0.52978	0.0:0.0693:0.0:0.9307	.	407;416	O43660-2;O43660	.;PLRG1_HUMAN	V	416;416;59;407	ENSP00000424417:I416V;ENSP00000377483:I416V;ENSP00000426497:I59V;ENSP00000303191:I407V	ENSP00000303191:I407V	I	-	1	0	PLRG1	155678616	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.107000	0.71517	2.165000	0.68154	0.477000	0.44152	ATT		0.308	PLRG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364824.1	NM_002669		69	20	0	0	0	1	0	69	20				
MANSC1	54682	broad.mit.edu	37	12	12483418	12483418	+	Missense_Mutation	SNP	G	G	A	rs201432430		TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr12:12483418G>A	ENST00000535902.1	-	4	1402	c.839C>T	c.(838-840)aCg>aTg	p.T280M	MANSC1_ENST00000396349.3_Missense_Mutation_p.T246M|MANSC1_ENST00000545735.1_Missense_Mutation_p.T199M			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	280	Thr-rich.					integral component of membrane (GO:0016021)		p.T281fs*1(1)|p.T280M(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		AATGAGGGTCGTGGGAGGCTG	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		18510	0.001		0.0	False		,,,				2504	0.0					ENST00000535902.1																			2	Substitution - Missense(1)|Insertion - Frameshift(1)	p.T281fs*1(1)|p.T280M(1)	large_intestine(2)	breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23						c.(838-840)aCg>aTg		MANSC domain containing 1		G	MET/THR	0,4406		0,0,2203	88.0	82.0	84.0		839	2.0	0.0	12		84	2,8598	2.2+/-6.3	0,2,4298	no	missense	MANSC1	NM_018050.2	81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	280/432	12483418	2,13004	2203	4300	6503	SO:0001583	missense	54682					integral to membrane		g.chr12:12483418G>A	AK001160	CCDS8648.1	12p13.2	2006-04-12				ENSG00000111261			25505	protein-coding gene	gene with protein product						12975309	Standard	NM_018050		Approved	FLJ10298, LOH12CR3	uc001rai.1	Q9H8J5		ENST00000535902.1:c.839C>T	12.37:g.12483418G>A	ENSP00000438205:p.Thr280Met					MANSC1_ENST00000396349.3_Missense_Mutation_p.T246M|MANSC1_ENST00000545735.1_Missense_Mutation_p.T199M	p.T280M			Q9H8J5	MANS1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.185)	4	1402	-		Prostate(47;0.0865)	280			Thr-rich.		Q8NEC1|Q9NW60	Missense_Mutation	SNP	ENST00000535902.1	37	c.839C>T	CCDS8648.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.957441	0.53400	0.0	2.33E-4	ENSG00000111261	ENST00000535902;ENST00000396349;ENST00000355566;ENST00000545735	T;T;T	0.38560	1.49;1.63;1.13	4.99	1.96	0.26148	.	1.452760	0.04711	N	0.417712	T	0.41282	0.1152	L	0.27053	0.805	0.09310	N	1	D;D;D	0.76494	0.999;0.997;0.997	P;P;P	0.50082	0.63;0.63;0.63	T	0.35151	-0.9800	10	0.72032	D	0.01	-5.251	8.5407	0.33390	0.0:0.302:0.5391:0.1589	.	214;246;280	B4DQ82;Q9NW60;Q9H8J5	.;.;MANS1_HUMAN	M	280;246;199;199	ENSP00000438205:T280M;ENSP00000379638:T246M;ENSP00000445303:T199M	ENSP00000347765:T199M	T	-	2	0	MANSC1	12374685	0.023000	0.18921	0.000000	0.03702	0.249000	0.25844	1.410000	0.34691	0.095000	0.17434	0.491000	0.48974	ACG		0.547	MANSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400144.1	NM_018050		59	45	0	0	0	1	0	59	45				
TTN	7273	broad.mit.edu	37	2	179616133	179616133	+	Intron	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr2:179616133G>A	ENST00000591111.1	-	45	10585				TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.A3665V|TTN_ENST00000589042.1_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)			TGTTTTCTTGGCAGAACTCAT	0.363																																						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.(10993-10995)gCc>gTc		titin							125.0	114.0	117.0					2																	179616133		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179616133G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+1717C>T	2.37:g.179616133G>A						TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA	p.A3665V	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	11216	-			9510			Ig-like 22.		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.10994C>T		.	.	.	.	.	.	.	.	.	.	G	0.004	-2.239359	0.00274	.	.	ENSG00000155657	ENST00000360870	T	0.56103	0.48	5.67	1.49	0.22878	.	.	.	.	.	T	0.26122	0.0637	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18085	-1.0348	9	0.28530	T	0.3	.	8.0075	0.30334	0.3478:0.2784:0.3738:0.0	.	3665	Q8WZ42-6	.	V	3665	ENSP00000354117:A3665V	ENSP00000354117:A3665V	A	-	2	0	TTN	179324378	0.000000	0.05858	0.672000	0.29872	0.341000	0.28922	-0.119000	0.10676	0.780000	0.33566	-0.211000	0.12701	GCC		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		196	56	0	0	0	1	0	196	56				
CDH7	1005	broad.mit.edu	37	18	63481745	63481745	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr18:63481745C>T	ENST00000397968.2	+	4	956	c.530C>T	c.(529-531)gCg>gTg	p.A177V	CDH7_ENST00000536984.2_Missense_Mutation_p.A177V|CDH7_ENST00000323011.3_Missense_Mutation_p.A177V	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	177	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CAAGTGACAGCGACGGATGCT	0.438																																						ENST00000536984.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80						c.(529-531)gCg>gTg		cadherin 7, type 2							187.0	174.0	179.0					18																	63481745		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63481745C>T	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.530C>T	18.37:g.63481745C>T	ENSP00000381058:p.Ala177Val					CDH7_ENST00000323011.3_Missense_Mutation_p.A177V|CDH7_ENST00000397968.2_Missense_Mutation_p.A177V	p.A177V			Q9ULB5	CADH7_HUMAN			4	1224	+		Esophageal squamous(42;0.129)	177			Cadherin 2.		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.530C>T	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	C	35	5.423577	0.96111	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.59364	0.27;0.27;0.27	5.45	5.45	0.79879	Cadherin (5);Cadherin-like (1);	0.000000	0.64402	D	0.000002	T	0.81230	0.4779	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.84301	0.0505	10	0.87932	D	0	.	19.6512	0.95812	0.0:1.0:0.0:0.0	.	177;177	F5H5X9;Q9ULB5	.;CADH7_HUMAN	V	177	ENSP00000319166:A177V;ENSP00000443030:A177V;ENSP00000381058:A177V	ENSP00000319166:A177V	A	+	2	0	CDH7	61632725	1.000000	0.71417	0.963000	0.40424	0.904000	0.53231	7.330000	0.79181	2.712000	0.92718	0.591000	0.81541	GCG		0.438	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		23	59	0	0	0	1	0	23	59				
KCNJ1	3758	broad.mit.edu	37	11	128709340	128709340	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr11:128709340G>A	ENST00000392664.2	-	2	972	c.856C>T	c.(856-858)Ctt>Ttt	p.L286F	KCNJ1_ENST00000392665.2_Missense_Mutation_p.L267F|KCNJ1_ENST00000392666.1_Missense_Mutation_p.L267F|KCNJ1_ENST00000324036.3_Missense_Mutation_p.L267F|KCNJ1_ENST00000440599.2_Missense_Mutation_p.L267F	NM_000220.4	NP_000211.1	P48048	KCNJ1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	286					cardiovascular system development (GO:0072358)|excretion (GO:0007588)|kidney development (GO:0001822)|post-embryonic development (GO:0009791)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of G-protein activated inward rectifier potassium channel activity (GO:1900128)|renal sodium ion absorption (GO:0070294)|synaptic transmission (GO:0007268)|tissue homeostasis (GO:0001894)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Bethanidine(DB00217)|Glimepiride(DB00222)|Glyburide(DB01016)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Tolazamide(DB00839)|Tolbutamide(DB01124)|Yohimbine(DB01392)	TGCTGGAGAAGGGTCTCCGCT	0.478																																						ENST00000392665.2																			0				breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23						c.(799-801)Ctt>Ttt		potassium inwardly-rectifying channel, subfamily J, member 1	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)						71.0	69.0	70.0					11																	128709340		2201	4297	6498	SO:0001583	missense	3758				excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity	g.chr11:128709340G>A	BC063109	CCDS8476.1, CCDS8477.1	11q24	2011-07-05			ENSG00000151704	ENSG00000151704		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6255	protein-coding gene	gene with protein product		600359				7680431, 8190102, 16382105	Standard	NM_153765		Approved	Kir1.1, ROMK1	uc001qeo.2	P48048	OTTHUMG00000048247	ENST00000392664.2:c.856C>T	11.37:g.128709340G>A	ENSP00000376432:p.Leu286Phe					KCNJ1_ENST00000440599.2_Missense_Mutation_p.L267F|KCNJ1_ENST00000392664.2_Missense_Mutation_p.L286F|KCNJ1_ENST00000324036.3_Missense_Mutation_p.L267F|KCNJ1_ENST00000392666.1_Missense_Mutation_p.L267F	p.L267F	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	2	943	-	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)	286					B2RMR4|Q6LD67	Missense_Mutation	SNP	ENST00000392664.2	37	c.799C>T	CCDS8476.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804557	0.50315	.	.	ENSG00000151704	ENST00000392665;ENST00000392666;ENST00000440599;ENST00000324036;ENST00000392664	D;D;D;D;D	0.94650	-3.48;-3.48;-3.48;-3.48;-3.48	5.63	4.65	0.58169	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.138561	0.51477	D	0.000096	D	0.96904	0.8989	M	0.93283	3.4	0.26367	N	0.976957	D	0.56746	0.977	P	0.58130	0.833	D	0.92447	0.5967	10	0.66056	D	0.02	.	8.6471	0.34011	0.0852:0.0:0.691:0.2238	.	286	P48048	IRK1_HUMAN	F	267;267;267;267;286	ENSP00000376433:L267F;ENSP00000376434:L267F;ENSP00000406320:L267F;ENSP00000316233:L267F;ENSP00000376432:L286F	ENSP00000316233:L267F	L	-	1	0	KCNJ1	128214550	0.853000	0.29707	0.640000	0.29408	0.938000	0.57974	1.164000	0.31810	2.644000	0.89710	0.563000	0.77884	CTT		0.478	KCNJ1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386233.1	NM_000220		29	60	0	0	0	1	0	29	60				
ZNF804B	219578	broad.mit.edu	37	7	88963672	88963672	+	Missense_Mutation	SNP	C	C	T	rs201883364	byFrequency	TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr7:88963672C>T	ENST00000333190.4	+	4	1985	c.1376C>T	c.(1375-1377)aCg>aTg	p.T459M		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	459							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CAATGGCCTACGGAACTTCTG	0.428										HNSCC(36;0.09)			C|||	3	0.000599042	0.0	0.0	5008	,	,		18387	0.0		0.003	False		,,,				2504	0.0					ENST00000333190.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(1375-1377)aCg>aTg		zinc finger protein 804B		C	MET/THR	0,4398		0,0,2199	74.0	70.0	71.0		1376	3.7	0.1	7		71	3,8597	3.0+/-9.4	0,3,4297	yes	missense	ZNF804B	NM_181646.2	81	0,3,6496	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	459/1350	88963672	3,12995	2199	4300	6499	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88963672C>T	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1376C>T	7.37:g.88963672C>T	ENSP00000329638:p.Thr459Met	HNSCC(36;0.09)					p.T459M	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	1985	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		459					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.1376C>T	CCDS5613.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	12.97	2.096460	0.36952	0.0	3.49E-4	ENSG00000182348	ENST00000333190	T	0.06218	3.33	5.49	3.7	0.42460	.	0.380247	0.25717	N	0.028780	T	0.06554	0.0168	M	0.67953	2.075	0.09310	N	1	P	0.52316	0.952	B	0.34536	0.185	T	0.38222	-0.9671	10	0.87932	D	0	-1.369	6.9546	0.24563	0.1405:0.7166:0.0:0.1429	.	459	A4D1E1	Z804B_HUMAN	M	459	ENSP00000329638:T459M	ENSP00000329638:T459M	T	+	2	0	ZNF804B	88801608	0.011000	0.17503	0.124000	0.21820	0.670000	0.39368	1.032000	0.30178	0.887000	0.36136	0.655000	0.94253	ACG		0.428	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		18	44	0	0	0	1	0	18	44				
PLA2G4F	255189	broad.mit.edu	37	15	42439887	42439887	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr15:42439887C>T	ENST00000382396.4	-	12	1219	c.1133G>A	c.(1132-1134)gGg>gAg	p.G378E	PLA2G4F_ENST00000397272.3_Missense_Mutation_p.G380E			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	378	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CTCCTGCAACCCTGCCAGGCT	0.577																																						ENST00000397272.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1138-1140)gGg>gAg		phospholipase A2, group IVF							96.0	100.0	99.0					15																	42439887		2203	4299	6502	SO:0001583	missense	255189				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42439887C>T		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.1133G>A	15.37:g.42439887C>T	ENSP00000371833:p.Gly378Glu					PLA2G4F_ENST00000382396.4_Missense_Mutation_p.G378E	p.G380E	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	12	1230	-		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	378			PLA2c.		Q6ZMC8	Missense_Mutation	SNP	ENST00000382396.4	37	c.1139G>A	CCDS32204.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.370228	0.82573	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000357924;ENST00000443825	T;T	0.11385	2.78;2.78	5.29	4.33	0.51752	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.076393	0.53938	D	0.000046	T	0.26048	0.0635	L	0.43598	1.365	0.41223	D	0.986529	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.991	T	0.00837	-1.1546	10	0.87932	D	0	-29.4553	16.1246	0.81383	0.0:0.8669:0.1331:0.0	.	165;378	A2RRC4;Q68DD2	.;PA24F_HUMAN	E	374;380;378;378;378	ENSP00000380442:G380E;ENSP00000371833:G378E	ENSP00000290497:G374E	G	-	2	0	PLA2G4F	40227179	0.989000	0.36119	0.938000	0.37757	0.974000	0.67602	3.287000	0.51732	2.756000	0.94617	0.561000	0.74099	GGG		0.577	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		36	72	0	0	0	1	0	36	72				
OR4K15	81127	broad.mit.edu	37	14	20444015	20444015	+	Missense_Mutation	SNP	G	G	A	rs139377821	byFrequency	TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr14:20444015G>A	ENST00000305051.5	+	1	413	c.338G>A	c.(337-339)cGc>cAc	p.R113H		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R113H(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGGTTGAGCGCAAGACTATT	0.453													G|||	2	0.000399361	0.0015	0.0	5008	,	,		22221	0.0		0.0	False		,,,				2504	0.0					ENST00000305051.5																			1	Substitution - Missense(1)	p.R113H(1)	large_intestine(1)	endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39						c.(337-339)cGc>cAc		olfactory receptor, family 4, subfamily K, member 15							127.0	132.0	130.0					14																	20444015		2203	4297	6500	SO:0001583	missense	81127				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20444015G>A		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"""GPCR / Class A : Olfactory receptors"""	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.338G>A	14.37:g.20444015G>A	ENSP00000304077:p.Arg113His						p.R113H	NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	413	+	all_cancers(95;0.00108)		113					B9EIL3|Q6IEZ4	Missense_Mutation	SNP	ENST00000305051.5	37	c.338G>A	CCDS32026.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	.	0.001	-3.250918	0.00022	.	.	ENSG00000169488	ENST00000305051	T	0.01584	4.75	3.6	-6.57	0.01842	GPCR, rhodopsin-like superfamily (1);	1.002150	0.08047	N	0.996093	T	0.00754	0.0025	N	0.04655	-0.195	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47302	-0.9128	10	0.02654	T	1	.	7.8035	0.29189	0.5872:0.0:0.3023:0.1105	.	113	Q8NH41	OR4KF_HUMAN	H	113	ENSP00000304077:R113H	ENSP00000304077:R113H	R	+	2	0	OR4K15	19513855	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-3.348000	0.00503	-1.617000	0.01570	-2.550000	0.00177	CGC		0.453	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			59	45	0	0	0	1	0	59	45				
HIST2H2BE	8349	broad.mit.edu	37	1	149858147	149858147	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr1:149858147G>C	ENST00000369155.2	-	1	85	c.44C>G	c.(43-45)tCc>tGc	p.S15C	BOLA1_ENST00000369153.2_5'Flank|HIST2H2AC_ENST00000331380.2_5'Flank	NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	15					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GGCTTTCTTGGAGCCCTTTTT	0.537																																						ENST00000369155.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14						c.(43-45)tCc>tGc		histone cluster 2, H2be							82.0	84.0	83.0					1																	149858147		2203	4300	6503	SO:0001583	missense	8349				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr1:149858147G>C	AY131979	CCDS936.1	1q21.2	2011-01-27	2006-10-11	2003-03-07	ENSG00000184678	ENSG00000184678		"""Histones / Replication-dependent"""	4760	protein-coding gene	gene with protein product		601831	"""H2B histone family, member Q"", ""histone 2, H2be"""	H2B, H2BFQ		1469070, 12408966	Standard	NM_003528		Approved	H2B/q, H2B.1	uc001etc.3	Q16778	OTTHUMG00000012095	ENST00000369155.2:c.44C>G	1.37:g.149858147G>C	ENSP00000358151:p.Ser15Cys						p.S15C	NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	85	-	Breast(34;0.0124)|all_hematologic(923;0.127)		15					A3KMC7|A8K110|Q4KMY1|Q5QNX0|Q9UE88	Missense_Mutation	SNP	ENST00000369155.2	37	c.44C>G	CCDS936.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972525	0.53614	.	.	ENSG00000184678	ENST00000369155	T	0.22945	1.93	5.99	5.06	0.68205	Histone-fold (2);	0.000000	0.85682	D	0.000000	T	0.22704	0.0548	M	0.84683	2.71	0.36089	D	0.843335	B	0.24092	0.097	B	0.17979	0.02	T	0.21008	-1.0258	10	0.87932	D	0	.	15.2865	0.73833	0.0:0.0:0.8586:0.1414	.	15	Q16778	H2B2E_HUMAN	C	15	ENSP00000358151:S15C	ENSP00000358151:S15C	S	-	2	0	HIST2H2BE	148124771	1.000000	0.71417	0.807000	0.32361	0.911000	0.54048	9.453000	0.97619	1.518000	0.48934	0.650000	0.86243	TCC		0.537	HIST2H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033455.1	NM_003528		43	92	0	0	0	1	0	43	92				
PSG7	5676	broad.mit.edu	37	19	43433689	43433689	+	RNA	SNP	A	A	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr19:43433689A>T	ENST00000406070.2	-	0	710				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				TGTGACACCAAATAGGTAGAG	0.522																																						ENST00000406070.2																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)							290.0	297.0	295.0					19																	43433689		2201	4300	6501			5676				female pregnancy	extracellular region		g.chr19:43433689A>T			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43433689A>T						PSG7_ENST00000446844.3_RNA		NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN			0	710	-		Prostate(69;0.00682)						Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.522	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		178	292	0	0	0	1	0	178	292				
ZNF549	256051	broad.mit.edu	37	19	58049113	58049113	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr19:58049113T>A	ENST00000376233.3	+	4	922	c.741T>A	c.(739-741)taT>taA	p.Y247*	ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Nonsense_Mutation_p.Y234*	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	247					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAAAAGCTTATAAGCGTAGGG	0.383																																						ENST00000376233.3																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(739-741)taT>taA		zinc finger protein 549							68.0	69.0	69.0					19																	58049113		2203	4300	6503	SO:0001587	stop_gained	256051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58049113T>A	AK092236	CCDS12952.1, CCDS56106.1	19q13.43	2013-01-08				ENSG00000121406		"""Zinc fingers, C2H2-type"", ""-"""	26632	protein-coding gene	gene with protein product						12477932	Standard	NM_153263		Approved	FLJ34917	uc002qpb.2	Q6P9A3		ENST00000376233.3:c.741T>A	19.37:g.58049113T>A	ENSP00000365407:p.Tyr247*					ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000240719.3_Nonsense_Mutation_p.Y234*	p.Y247*	NM_001199295.1	NP_001186224.1	Q6P9A3	ZN549_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	922	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	247					B3KV91|O43336|Q8NAR4	Nonsense_Mutation	SNP	ENST00000376233.3	37	c.741T>A	CCDS56106.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.984729	0.74474	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	.	.	.	2.76	0.446	0.16602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.8917	0.09122	0.0:0.131:0.2167:0.6523	.	.	.	.	X	234;247	.	ENSP00000240719:Y234X	Y	+	3	2	ZNF549	62740925	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-0.717000	0.04986	-0.084000	0.12595	0.528000	0.53228	TAT		0.383	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466780.1	NM_153263		42	55	0	0	0	1	0	42	55				
OR5AR1	219493	broad.mit.edu	37	11	56431630	56431630	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr11:56431630G>T	ENST00000302969.2	+	1	493	c.469G>T	c.(469-471)Gta>Tta	p.V157L		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	157						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						AGTGAGTTTAGTAGCCCACAC	0.512																																						ENST00000302969.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						c.(469-471)Gta>Tta		olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)							211.0	187.0	195.0					11																	56431630		2201	4296	6497	SO:0001583	missense	219493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56431630G>T	AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"""GPCR / Class A : Olfactory receptors"""	15260	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AR, member 1"""				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.469G>T	11.37:g.56431630G>T	ENSP00000302639:p.Val157Leu						p.V157L	NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN			1	493	+			157					Q6IF61	Missense_Mutation	SNP	ENST00000302969.2	37	c.469G>T	CCDS31535.1	.	.	.	.	.	.	.	.	.	.	G	0.032	-1.328013	0.01309	.	.	ENSG00000172459	ENST00000302969	T	0.00024	8.98	4.94	1.95	0.26073	GPCR, rhodopsin-like superfamily (1);	0.522222	0.15957	N	0.236432	T	0.00039	0.0001	N	0.00801	-1.175	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.22417	-1.0217	10	0.02654	T	1	.	5.9086	0.19014	0.2399:0.0:0.6172:0.1429	.	157	Q8NGP9	O5AR1_HUMAN	L	157	ENSP00000302639:V157L	ENSP00000302639:V157L	V	+	1	0	OR5AR1	56188206	0.000000	0.05858	0.779000	0.31741	0.791000	0.44710	-1.000000	0.03693	0.672000	0.31204	-0.242000	0.12053	GTA		0.512	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334434.1	NM_001004730		64	70	1	0	3.37043e-27	1	3.82744e-27	64	70				
CAMTA1	23261	broad.mit.edu	37	1	7724919	7724919	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr1:7724919A>T	ENST00000303635.7	+	9	2519	c.2312A>T	c.(2311-2313)aAc>aTc	p.N771I	CAMTA1_ENST00000439411.2_Missense_Mutation_p.N771I	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	771					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TCCTTCAGCAACCAGTTCTCC	0.627			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(2311-2313)aAc>aTc		calmodulin binding transcription activator 1							156.0	176.0	169.0					1																	7724919		2203	4300	6503	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7724919A>T	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.2312A>T	1.37:g.7724919A>T	ENSP00000306522:p.Asn771Ile					CAMTA1_ENST00000439411.2_Missense_Mutation_p.N771I	p.N771I	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	9	2519	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	771					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.2312A>T	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	a	16.16	3.043457	0.55003	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.25414	1.81;1.8	5.23	4.1	0.47936	.	0.155751	0.56097	D	0.000030	T	0.42698	0.1214	L	0.50333	1.59	0.50039	D	0.999848	D	0.76494	0.999	D	0.80764	0.994	T	0.25433	-1.0132	10	0.72032	D	0.01	-15.2258	11.0009	0.47604	0.926:0.0:0.074:0.0	.	771	Q9Y6Y1	CMTA1_HUMAN	I	771	ENSP00000306522:N771I;ENSP00000402561:N771I	ENSP00000306522:N771I	N	+	2	0	CAMTA1	7647506	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.220000	0.65267	0.829000	0.34733	0.448000	0.29417	AAC		0.627	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		124	55	0	0	0	1	0	124	55				
PAPPA	5069	broad.mit.edu	37	9	118973944	118973944	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr9:118973944T>C	ENST00000328252.3	+	4	2020	c.1651T>C	c.(1651-1653)Tat>Cat	p.Y551H	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	551	Metalloprotease.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCCATCTTTCTATGGCATGCC	0.517																																						ENST00000328252.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(1651-1653)Tat>Cat		pregnancy-associated plasma protein A, pappalysin 1							126.0	111.0	116.0					9																	118973944		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118973944T>C		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.1651T>C	9.37:g.118973944T>C	ENSP00000330658:p.Tyr551His					PAPPA_ENST00000534838.1_Intron	p.Y551H	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			4	2020	+			551			Metalloprotease.		B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.1651T>C	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.676754	0.88445	.	.	ENSG00000182752	ENST00000328252	T	0.02032	4.49	5.64	5.64	0.86602	Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.13457	0.0326	M	0.77406	2.37	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00092	-1.2082	10	0.87932	D	0	-20.1686	16.152	0.81629	0.0:0.0:0.0:1.0	.	551	Q13219	PAPP1_HUMAN	H	551	ENSP00000330658:Y551H	ENSP00000330658:Y551H	Y	+	1	0	PAPPA	118013765	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	7.961000	0.87903	2.279000	0.76181	0.459000	0.35465	TAT		0.517	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		44	71	0	0	0	1	0	44	71				
KCTD3	51133	broad.mit.edu	37	1	215792410	215792410	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr1:215792410A>G	ENST00000259154.4	+	16	2039	c.1745A>G	c.(1744-1746)aAg>aGg	p.K582R	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	582					protein homooligomerization (GO:0051260)			p.K582M(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		AGTGAAGATAAGGGTAGGTTC	0.393																																						ENST00000259154.4																			1	Substitution - Missense(1)	p.K582M(1)	skin(1)	breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33						c.(1744-1746)aAg>aGg		potassium channel tetramerization domain containing 3							129.0	125.0	126.0					1																	215792410		2203	4300	6503	SO:0001583	missense	51133					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr1:215792410A>G	AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"""potassium channel tetramerisation domain containing 3"""			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.1745A>G	1.37:g.215792410A>G	ENSP00000259154:p.Lys582Arg					KCTD3_ENST00000495537.1_3'UTR	p.K582R	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN		all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)	16	2039	+			582					A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Missense_Mutation	SNP	ENST00000259154.4	37	c.1745A>G	CCDS1515.1	.	.	.	.	.	.	.	.	.	.	A	14.62	2.590950	0.46214	.	.	ENSG00000136636	ENST00000259154	T	0.43294	0.95	5.36	3.03	0.35002	.	0.102292	0.64402	N	0.000003	T	0.30103	0.0754	L	0.40543	1.245	0.48087	D	0.999583	B;B;B;B	0.11235	0.001;0.001;0.004;0.001	B;B;B;B	0.09377	0.003;0.001;0.004;0.002	T	0.06180	-1.0841	10	0.27785	T	0.31	-24.1439	7.8465	0.29428	0.7893:0.1393:0.0714:0.0	.	334;334;582;582	B7ZAF7;B4DJX2;Q9Y597-2;Q9Y597	.;.;.;KCTD3_HUMAN	R	582	ENSP00000259154:K582R	ENSP00000259154:K582R	K	+	2	0	KCTD3	213859033	0.994000	0.37717	0.713000	0.30519	0.974000	0.67602	0.892000	0.28322	0.344000	0.23847	0.528000	0.53228	AAG		0.393	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121		11	67	0	0	0	1	0	11	67				
MLLT10	8028	broad.mit.edu	37	10	21823717	21823717	+	Missense_Mutation	SNP	C	C	G	rs200260532		TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr10:21823717C>G	ENST00000307729.7	+	2	322	c.144C>G	c.(142-144)agC>agG	p.S48R	MLLT10_ENST00000377072.3_Missense_Mutation_p.S48R|MLLT10_ENST00000377091.2_Missense_Mutation_p.S48R|MLLT10_ENST00000377059.3_Missense_Mutation_p.S48R|MLLT10_ENST00000446906.2_Missense_Mutation_p.S48R|MLLT10_ENST00000377100.3_Missense_Mutation_p.S48R|MLLT10_ENST00000495130.1_3'UTR			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	48					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						ACGGCTGCAGCGTCGCGGTGC	0.682			T	"""MLL, PICALM, CDK6"""	AL																																	ENST00000377072.3				Dom	yes		10	10p12	8028	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""			L	"""MLL, PICALM, CDK6"""		AL		0				NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(142-144)agC>agG		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10							61.0	62.0	62.0					10																	21823717		2203	4300	6503	SO:0001583	missense	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:21823717C>G	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.144C>G	10.37:g.21823717C>G	ENSP00000307411:p.Ser48Arg					MLLT10_ENST00000446906.2_Missense_Mutation_p.S48R|MLLT10_ENST00000377100.3_Missense_Mutation_p.S48R|MLLT10_ENST00000377059.3_Missense_Mutation_p.S48R|MLLT10_ENST00000377091.2_Missense_Mutation_p.S48R|MLLT10_ENST00000307729.7_Missense_Mutation_p.S48R|MLLT10_ENST00000495130.1_3'UTR	p.S48R	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN			2	492	+			48					B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	37	c.144C>G	CCDS55708.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	15.15|15.15	2.749314|2.749314	0.49257|0.49257	.|.	.|.	ENSG00000078403|ENSG00000078403	ENST00000430455|ENST00000377100;ENST00000377072;ENST00000446906;ENST00000307729;ENST00000377091;ENST00000377059	.|D;D;D;D;D;D	.|0.87412	.|-2.25;-2.25;-2.25;-2.25;-2.25;-2.25	3.57|3.57	3.57|3.57	0.40892|0.40892	.|Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	.|0.212871	.|0.36854	.|U	.|0.002364	D|D	0.82314|0.82314	0.5010|0.5010	N|N	0.11313|0.11313	0.125|0.125	0.30037|0.30037	N|N	0.812972|0.812972	.|P;P;P;P;P;D	.|0.60575	.|0.563;0.546;0.682;0.563;0.917;0.988	.|B;B;B;B;P;D	.|0.63703	.|0.347;0.225;0.382;0.347;0.773;0.917	T|T	0.77021|0.77021	-0.2742|-0.2742	5|10	.|0.72032	.|D	.|0.01	.|.	4.6206|4.6206	0.12447|0.12447	0.0:0.6983:0.0:0.3017|0.0:0.6983:0.0:0.3017	.|.	.|48;13;48;48;48;48	.|E9PBP4;O60697;Q5VX90;P55197;Q66K63;B1ANA8	.|.;.;.;AF10_HUMAN;.;.	G|R	14|48	.|ENSP00000366304:S48R;ENSP00000366272:S48R;ENSP00000401406:S48R;ENSP00000307411:S48R;ENSP00000366295:S48R;ENSP00000366258:S48R	.|ENSP00000307411:S48R	R|S	+|+	1|3	0|2	MLLT10|MLLT10	21863723|21863723	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.022000|2.022000	0.41030|0.41030	1.995000|1.995000	0.58328|0.58328	0.444000|0.444000	0.29173|0.29173	CGT|AGC		0.682	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			4	41	0	0	0	1	0	4	41				
LTBP1	4052	broad.mit.edu	37	2	33500893	33500893	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr2:33500893C>G	ENST00000404816.2	+	18	3248	c.2895C>G	c.(2893-2895)gaC>gaG	p.D965E	LTBP1_ENST00000404525.1_Missense_Mutation_p.D586E|LTBP1_ENST00000402934.1_Missense_Mutation_p.D586E|LTBP1_ENST00000418533.2_Missense_Mutation_p.D639E|LTBP1_ENST00000407925.1_Missense_Mutation_p.D639E|LTBP1_ENST00000390003.4_Missense_Mutation_p.D640E|LTBP1_ENST00000354476.3_Missense_Mutation_p.D966E			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	965	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TGAGGCCGGACGTCTGTGGGG	0.532																																						ENST00000404816.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.(2893-2895)gaC>gaG		latent transforming growth factor beta binding protein 1							152.0	144.0	147.0					2																	33500893		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33500893C>G		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.2895C>G	2.37:g.33500893C>G	ENSP00000386043:p.Asp965Glu					LTBP1_ENST00000354476.3_Missense_Mutation_p.D966E|LTBP1_ENST00000407925.1_Missense_Mutation_p.D639E|LTBP1_ENST00000404525.1_Missense_Mutation_p.D586E|LTBP1_ENST00000418533.2_Missense_Mutation_p.D639E|LTBP1_ENST00000390003.4_Missense_Mutation_p.D640E|LTBP1_ENST00000402934.1_Missense_Mutation_p.D586E	p.D965E			Q14766	LTBP1_HUMAN			18	3248	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	965			EGF-like 6; calcium-binding (Potential).		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.2895C>G	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	C	3.903	-0.021603	0.07634	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925	D;D;D;D;D;D;D	0.91631	-2.88;-2.88;-2.88;-2.88;-2.88;-2.31;-2.88	4.73	-3.5	0.04710	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);	.	.	.	.	D	0.82692	0.5092	N	0.25380	0.74	0.09310	N	0.999999	B;B;B;B;B;B	0.12013	0.005;0.005;0.0;0.0;0.0;0.004	B;B;B;B;B;B	0.15052	0.012;0.011;0.003;0.002;0.004;0.007	T	0.66893	-0.5808	9	0.15952	T	0.53	.	8.6318	0.33924	0.1516:0.5564:0.0:0.2919	.	965;639;586;639;640;966	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	E	965;966;640;639;586;586;639	ENSP00000386043:D965E;ENSP00000346467:D966E;ENSP00000374653:D640E;ENSP00000393057:D639E;ENSP00000384373:D586E;ENSP00000385359:D586E;ENSP00000384091:D639E	ENSP00000346467:D966E	D	+	3	2	LTBP1	33354397	0.000000	0.05858	0.003000	0.11579	0.028000	0.11728	-3.058000	0.00624	-0.249000	0.09569	-0.768000	0.03414	GAC		0.532	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		41	160	0	0	0	1	0	41	160				
PDE4D	5144	broad.mit.edu	37	5	59284494	59284494	+	Silent	SNP	G	G	A	rs375580342	byFrequency	TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr5:59284494G>A	ENST00000502484.2	-	3	316	c.93C>T	c.(91-93)cgC>cgT	p.R31R	PDE4D_ENST00000546160.1_Silent_p.R31R	NM_001165899.1	NP_001159371.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	0					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GTTCCATTCCGCGGAAAGGGT	0.428													g|||	2	0.000399361	0.0	0.0	5008	,	,		16438	0.0		0.0	False		,,,				2504	0.002					ENST00000502484.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15						c.(91-93)cgC>cgT		phosphodiesterase 4D, cAMP-specific	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	A		0,3136		0,0,1568	139.0	130.0	133.0		93	-10.5	0.0	5		133	3,7161		0,3,3579	no	coding-synonymous	PDE4D	NM_001165899.1		0,3,5147	AA,AG,GG		0.0419,0.0,0.0291		31/749	59284494	3,10297	1568	3582	5150	SO:0001819	synonymous_variant	5144				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:59284494G>A		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000502484.2:c.93C>T	5.37:g.59284494G>A						PDE4D_ENST00000546160.1_Silent_p.R31R	p.R31R	NM_001165899.1	NP_001159371.1	Q08499	PDE4D_HUMAN		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	3	316	-		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)	0					O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Silent	SNP	ENST00000502484.2	37	c.93C>T	CCDS54859.1																																																																																				0.428	PDE4D-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368094.3			33	18	0	0	0	1	0	33	18				
SACS	26278	broad.mit.edu	37	13	23905170	23905170	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr13:23905170C>G	ENST00000382292.3	-	9	13118	c.12845G>C	c.(12844-12846)gGt>gCt	p.G4282A	SACS_ENST00000382298.3_Missense_Mutation_p.G4282A|SACS_ENST00000402364.1_Missense_Mutation_p.G3532A			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4282					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GCTCTCTCTACCAGAGAAAAG	0.478																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(12844-12846)gGt>gCt		spastic ataxia of Charlevoix-Saguenay (sacsin)							73.0	83.0	80.0					13																	23905170		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23905170C>G	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.12845G>C	13.37:g.23905170C>G	ENSP00000371729:p.Gly4282Ala					SACS_ENST00000402364.1_Missense_Mutation_p.G3532A|SACS_ENST00000382292.3_Missense_Mutation_p.G4282A	p.G4282A	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	13433	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	4282					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.12845G>C	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	6.935	0.542169	0.13250	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.91464	-2.69;-2.85;-2.69	5.65	2.87	0.33458	.	0.269744	0.41294	N	0.000919	D	0.83603	0.5290	L	0.29908	0.895	0.21652	N	0.999606	B	0.02656	0.0	B	0.04013	0.001	T	0.72097	-0.4393	10	0.49607	T	0.09	.	10.3765	0.44085	0.0:0.5475:0.3839:0.0687	.	4282	Q9NZJ4	SACS_HUMAN	A	4282;3532;4282	ENSP00000371729:G4282A;ENSP00000385844:G3532A;ENSP00000371735:G4282A	ENSP00000371729:G4282A	G	-	2	0	SACS	22803170	0.945000	0.32115	0.011000	0.14972	0.321000	0.28281	2.115000	0.41921	0.269000	0.21961	0.563000	0.77884	GGT		0.478	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		46	55	0	0	0	1	0	46	55				
AKAP3	10566	broad.mit.edu	37	12	4737262	4737262	+	Missense_Mutation	SNP	C	C	T	rs545087055		TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr12:4737262C>T	ENST00000545990.2	-	5	1330	c.806G>A	c.(805-807)cGa>cAa	p.R269Q	AKAP3_ENST00000228850.1_Missense_Mutation_p.R269Q|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	269					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)	p.R269L(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TTCCTGCCCTCGAAACCTCTT	0.443													C|||	1	0.000199681	0.0	0.0	5008	,	,		24020	0.001		0.0	False		,,,				2504	0.0					ENST00000545990.2																			2	Substitution - Missense(2)	p.R269L(2)	lung(2)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						c.(805-807)cGa>cAa		A kinase (PRKA) anchor protein 3							85.0	79.0	81.0					12																	4737262		2203	4300	6503	SO:0001583	missense	10566				acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	g.chr12:4737262C>T	U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.806G>A	12.37:g.4737262C>T	ENSP00000440994:p.Arg269Gln					AKAP3_ENST00000228850.1_Missense_Mutation_p.R269Q	p.R269Q	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN			5	1330	-			269					O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	ENST00000545990.2	37	c.806G>A	CCDS8531.1	.	.	.	.	.	.	.	.	.	.	C	4.842	0.156495	0.09236	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.11063	2.81;2.81	4.98	0.782	0.18567	A-kinase anchor 110kDa, C-terminal (1);	0.521329	0.17868	N	0.159295	T	0.10078	0.0247	M	0.63428	1.95	0.09310	N	1	B	0.24675	0.109	B	0.16289	0.015	T	0.20974	-1.0259	10	0.45353	T	0.12	-4.3144	5.2547	0.15540	0.0:0.5817:0.1461:0.2722	.	269	O75969	AKAP3_HUMAN	Q	269	ENSP00000228850:R269Q;ENSP00000440994:R269Q	ENSP00000228850:R269Q	R	-	2	0	AKAP3	4607523	0.000000	0.05858	0.000000	0.03702	0.387000	0.30353	0.173000	0.16724	0.020000	0.15106	-0.345000	0.07892	CGA		0.443	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422		61	39	0	0	0	1	0	61	39				
SEMA5A	9037	broad.mit.edu	37	5	9050539	9050539	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr5:9050539T>C	ENST00000382496.5	-	21	3541	c.2876A>G	c.(2875-2877)gAa>gGa	p.E959G		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	959					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CCTTTTCTCTTCTACGCTACT	0.363																																						ENST00000382496.5																			0				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(2875-2877)gAa>gGa		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A							125.0	111.0	116.0					5																	9050539		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9050539T>C	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2876A>G	5.37:g.9050539T>C	ENSP00000371936:p.Glu959Gly						p.E959G	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN			21	3541	-			959					D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.2876A>G	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	T	17.58	3.424076	0.62733	.	.	ENSG00000112902	ENST00000382496	T	0.37915	1.17	4.93	4.93	0.64822	.	0.050490	0.85682	D	0.000000	T	0.34803	0.0910	L	0.48642	1.525	0.45899	D	0.998748	P	0.39071	0.658	B	0.40982	0.345	T	0.22103	-1.0226	10	0.62326	D	0.03	.	11.2507	0.49024	0.0:0.0:0.0:1.0	.	959	Q13591	SEM5A_HUMAN	G	959	ENSP00000371936:E959G	ENSP00000371936:E959G	E	-	2	0	SEMA5A	9103539	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.339000	0.52135	1.983000	0.57843	0.533000	0.62120	GAA		0.363	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			10	11	0	0	0	1	0	10	11				
SACS	26278	broad.mit.edu	37	13	23915744	23915744	+	Silent	SNP	G	G	C			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr13:23915744G>C	ENST00000382292.3	-	9	2544	c.2271C>G	c.(2269-2271)ggC>ggG	p.G757G	SACS_ENST00000382298.3_Silent_p.G757G|SACS_ENST00000402364.1_Silent_p.G7G			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	757					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCAATTCTCTGCCAGGCCAGA	0.363																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(2269-2271)ggC>ggG		spastic ataxia of Charlevoix-Saguenay (sacsin)							51.0	51.0	51.0					13																	23915744		2203	4298	6501	SO:0001819	synonymous_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23915744G>C	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.2271C>G	13.37:g.23915744G>C						SACS_ENST00000402364.1_Silent_p.G7G|SACS_ENST00000382292.3_Silent_p.G757G	p.G757G	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	2859	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	757					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	c.2271C>G	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	8.491	0.862050	0.17178	.	.	ENSG00000151835	ENST00000455470	.	.	.	6.05	5.19	0.71726	.	.	.	.	.	T	0.55433	0.1920	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55444	-0.8140	4	.	.	.	.	5.4918	0.16781	0.0709:0.1195:0.574:0.2357	.	.	.	.	E	657	.	.	Q	-	1	0	SACS	22813744	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.609000	0.24238	1.543000	0.49345	0.650000	0.86243	CAG		0.363	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		10	68	0	0	0	1	0	10	68				
MAP2K2	5605	broad.mit.edu	37	19	4117549	4117549	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr19:4117549A>C	ENST00000262948.5	-	2	424	c.171T>G	c.(169-171)ttT>ttG	p.F57L	MAP2K2_ENST00000599345.1_5'UTR|MAP2K2_ENST00000394867.4_5'UTR	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	57			F -> C (in CFC4). {ECO:0000269|PubMed:16439621}.|F -> V (in CFC4). {ECO:0000269|PubMed:18042262}.		activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of cell motility (GO:2000147)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|scaffold protein binding (GO:0097110)						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	Bosutinib(DB06616)|Trametinib(DB08911)	TCTGGGTGAGAAAGGCTTCCA	0.597																																						ENST00000262948.5																			0						GRCh37	CM083721	MAP2K2	M		c.(169-171)ttT>ttG		mitogen-activated protein kinase kinase 2							87.0	86.0	86.0					19																	4117549		2203	4300	6503	SO:0001583	missense	5605				activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr19:4117549A>C	L11285	CCDS12120.1	19p13.3	2014-09-17			ENSG00000126934	ENSG00000126934	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6842	protein-coding gene	gene with protein product		601263		PRKMK2		8388392	Standard	NM_030662		Approved	MEK2	uc002lzk.3	P36507	OTTHUMG00000134286	ENST00000262948.5:c.171T>G	19.37:g.4117549A>C	ENSP00000262948:p.Phe57Leu					MAP2K2_ENST00000394867.4_5'UTR|MAP2K2_ENST00000599345.1_5'UTR	p.F57L	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	2	424	-		Hepatocellular(1079;0.137)	57		F -> C (in CFC syndrome).				Missense_Mutation	SNP	ENST00000262948.5	37	c.171T>G	CCDS12120.1	.	.	.	.	.	.	.	.	.	.	a	19.14	3.768986	0.69992	.	.	ENSG00000126934	ENST00000262948	D	0.93019	-3.15	4.14	3.02	0.34903	.	0.000000	0.85682	D	0.000000	D	0.95408	0.8509	M	0.77313	2.365	0.80722	D	1	D	0.69078	0.997	D	0.79784	0.993	D	0.93873	0.7164	10	0.49607	T	0.09	-32.2801	7.4728	0.27359	0.2042:0.0:0.7958:0.0	.	57	P36507	MP2K2_HUMAN	L	57	ENSP00000262948:F57L	ENSP00000262948:F57L	F	-	3	2	MAP2K2	4068549	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	1.540000	0.36115	0.938000	0.37419	-0.345000	0.07892	TTT		0.597	MAP2K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258957.2			32	63	0	0	0	1	0	32	63				
SPTB	6710	broad.mit.edu	37	14	65260353	65260353	+	Silent	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr14:65260353C>T	ENST00000389721.5	-	13	2060	c.2028G>A	c.(2026-2028)caG>caA	p.Q676Q	SPTB_ENST00000389720.3_Silent_p.Q676Q|SPTB_ENST00000542895.1_Silent_p.Q676Q|SPTB_ENST00000389722.3_Silent_p.Q676Q|SPTB_ENST00000556626.1_Silent_p.Q676Q	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	676					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGTGCTTGCGCTGTAAGATGA	0.547																																						ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(2026-2028)caG>caA		spectrin, beta, erythrocytic							112.0	80.0	90.0					14																	65260353		2203	4300	6503	SO:0001819	synonymous_variant	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65260353C>T		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.2028G>A	14.37:g.65260353C>T						SPTB_ENST00000389720.3_Silent_p.Q676Q|SPTB_ENST00000542895.1_Silent_p.Q676Q|SPTB_ENST00000556626.1_Silent_p.Q676Q|SPTB_ENST00000389721.5_Silent_p.Q676Q	p.Q676Q	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	13	2081	-		all_lung(585;4.15e-09)	676					Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	c.2028G>A	CCDS32100.1																																																																																				0.547	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			18	21	0	0	0	1	0	18	21				
SLC39A3	29985	broad.mit.edu	37	19	2733161	2733161	+	Missense_Mutation	SNP	G	G	A	rs572760698		TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr19:2733161G>A	ENST00000269740.4	-	3	862	c.533C>T	c.(532-534)tCg>tTg	p.S178L	SLC39A3_ENST00000545664.1_Missense_Mutation_p.S178L|AC006538.4_ENST00000586572.1_Intron	NM_144564.4	NP_653165.2	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter), member 3	178					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGAGTGGGCCGACAGCGCGAA	0.721																																						ENST00000269740.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10						c.(532-534)tCg>tTg		solute carrier family 39 (zinc transporter), member 3							23.0	26.0	25.0					19																	2733161		2121	4121	6242	SO:0001583	missense	29985					integral to membrane|plasma membrane	zinc ion transmembrane transporter activity	g.chr19:2733161G>A	AF052125	CCDS12093.1, CCDS45909.1	19p13.3	2013-05-22			ENSG00000141873	ENSG00000141873		"""Solute carriers"""	17128	protein-coding gene	gene with protein product		612168				10681536	Standard	NM_144564		Approved	ZIP3	uc002lwg.3	Q9BRY0		ENST00000269740.4:c.533C>T	19.37:g.2733161G>A	ENSP00000269740:p.Ser178Leu					AC006538.4_ENST00000586572.1_Intron|SLC39A3_ENST00000545664.1_Missense_Mutation_p.S178L	p.S178L	NM_144564.4	NP_653165.2	Q9BRY0	S39A3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	862	-		Hepatocellular(1079;0.137)	178					B3KMJ3|Q8WUG1	Missense_Mutation	SNP	ENST00000269740.4	37	c.533C>T	CCDS12093.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061973	0.76187	.	.	ENSG00000141873	ENST00000545664;ENST00000269740	T;T	0.48836	0.8;0.8	4.79	4.79	0.61399	.	0.202074	0.43416	D	0.000562	T	0.70281	0.3206	M	0.90309	3.105	0.80722	D	1	D;D	0.76494	0.999;0.998	P;P	0.61275	0.818;0.886	T	0.77509	-0.2561	10	0.72032	D	0.01	-11.671	13.1009	0.59219	0.0:0.1627:0.8373:0.0	.	178;178	F5H385;Q9BRY0	.;S39A3_HUMAN	L	178	ENSP00000445345:S178L;ENSP00000269740:S178L	ENSP00000269740:S178L	S	-	2	0	SLC39A3	2684161	1.000000	0.71417	0.880000	0.34516	0.464000	0.32679	5.084000	0.64462	2.201000	0.70794	0.555000	0.69702	TCG		0.721	SLC39A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451354.2			30	63	0	0	0	1	0	30	63				
CNBD1	168975	broad.mit.edu	37	8	87951834	87951834	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr8:87951834G>A	ENST00000518476.1	+	4	334	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	95										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						GGAACTCAATGAAGGCAAAGA	0.338																																						ENST00000518476.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						c.(283-285)Gaa>Aaa		cyclic nucleotide binding domain containing 1							106.0	104.0	104.0					8																	87951834		1837	4086	5923	SO:0001583	missense	168975							g.chr8:87951834G>A	AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.283G>A	8.37:g.87951834G>A	ENSP00000430073:p.Glu95Lys						p.E95K	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN			4	334	+			95						Missense_Mutation	SNP	ENST00000518476.1	37	c.283G>A	CCDS55259.1	.	.	.	.	.	.	.	.	.	.	G	8.713	0.912552	0.17907	.	.	ENSG00000176571	ENST00000518476	T	0.16196	2.36	4.58	-1.56	0.08532	.	0.959958	0.08579	N	0.924785	T	0.09555	0.0235	L	0.29908	0.895	0.09310	N	1	B	0.18310	0.027	B	0.16289	0.015	T	0.41805	-0.9488	10	0.15066	T	0.55	.	4.3274	0.11046	0.3569:0.3407:0.3024:0.0	.	95	Q8NA66	CNBD1_HUMAN	K	95	ENSP00000430073:E95K	ENSP00000430073:E95K	E	+	1	0	CNBD1	88020950	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.059000	0.11731	-0.107000	0.12088	0.573000	0.79308	GAA		0.338	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538		11	83	0	0	0	1	0	11	83				
KCTD3	51133	broad.mit.edu	37	1	215775490	215775490	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr1:215775490A>T	ENST00000259154.4	+	12	1379	c.1085A>T	c.(1084-1086)gAt>gTt	p.D362V		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	362					protein homooligomerization (GO:0051260)					breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		CTGTATCATGATCCTTCAAAT	0.303																																						ENST00000259154.4																			0				breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33						c.(1084-1086)gAt>gTt		potassium channel tetramerization domain containing 3							105.0	103.0	104.0					1																	215775490		2203	4296	6499	SO:0001583	missense	51133					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr1:215775490A>T	AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"""potassium channel tetramerisation domain containing 3"""			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.1085A>T	1.37:g.215775490A>T	ENSP00000259154:p.Asp362Val						p.D362V	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN		all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)	12	1379	+			362					A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Missense_Mutation	SNP	ENST00000259154.4	37	c.1085A>T	CCDS1515.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.603717	0.87157	.	.	ENSG00000136636	ENST00000259154;ENST00000366946	T	0.60797	0.16	6.08	6.08	0.98989	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.79701	0.4491	M	0.87547	2.89	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.994;1.0;0.998	T	0.83241	-0.0058	10	0.87932	D	0	-38.1267	15.825	0.78698	1.0:0.0:0.0:0.0	.	114;114;362;362	B7ZAF7;B4DJX2;Q9Y597-2;Q9Y597	.;.;.;KCTD3_HUMAN	V	362;14	ENSP00000259154:D362V	ENSP00000259154:D362V	D	+	2	0	KCTD3	213842113	1.000000	0.71417	0.085000	0.20634	0.998000	0.95712	8.962000	0.93254	2.333000	0.79357	0.533000	0.62120	GAT		0.303	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121		28	47	0	0	0	1	0	28	47				
NKX2-2	4821	broad.mit.edu	37	20	21492699	21492699	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr20:21492699G>T	ENST00000377142.4	-	2	1040	c.684C>A	c.(682-684)ttC>ttA	p.F228L	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	228					astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TGCCCGCCTGGAAGGTGGCGG	0.682																																						ENST00000377142.4																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(682-684)ttC>ttA		NK2 homeobox 2							37.0	41.0	40.0					20																	21492699		2203	4300	6503	SO:0001583	missense	4821				brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity	g.chr20:21492699G>T	AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"""Homeoboxes / ANTP class : NKL subclass"""	7835	protein-coding gene	gene with protein product		604612	"""NK-2 (Drosophila) homolog B"", ""NK2 transcription factor related, locus 2 (Drosophila)"""	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.684C>A	20.37:g.21492699G>T	ENSP00000366347:p.Phe228Leu					NKX2-2-AS1_ENST00000549659.1_RNA	p.F228L	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN			2	1040	-			228						Missense_Mutation	SNP	ENST00000377142.4	37	c.684C>A	CCDS13145.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.473651	0.43942	.	.	ENSG00000125820	ENST00000377142	D	0.90133	-2.62	5.54	3.6	0.41247	.	0.000000	0.85682	D	0.000000	D	0.83266	0.5217	L	0.32530	0.975	0.52501	D	0.999953	B	0.18166	0.026	B	0.17433	0.018	T	0.73626	-0.3923	10	0.11485	T	0.65	.	11.8572	0.52444	0.1417:0.0:0.8583:0.0	.	228	O95096	NKX22_HUMAN	L	228	ENSP00000366347:F228L	ENSP00000366347:F228L	F	-	3	2	NKX2-2	21440699	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.782000	0.55401	0.700000	0.31782	0.462000	0.41574	TTC		0.682	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078278.9			11	28	1	0	2.80697e-09	1	2.96948e-09	11	28				
PRKACG	5568	broad.mit.edu	37	9	71628058	71628058	+	Silent	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr9:71628058C>T	ENST00000377276.2	-	1	981	c.951G>A	c.(949-951)ccG>ccA	p.P317P		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	317	AGC-kinase C-terminal.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|male gonad development (GO:0008584)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CTGTGTACTTCGGGATGAAGG	0.532																																					Esophageal Squamous(110;2236 2623 32146)	ENST00000377276.2																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						c.(949-951)ccG>ccA		protein kinase, cAMP-dependent, catalytic, gamma							98.0	90.0	93.0					9																	71628058		2203	4300	6503	SO:0001819	synonymous_variant	5568				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity	g.chr9:71628058C>T	M34182	CCDS6625.1	9q13	2012-10-02			ENSG00000165059	ENSG00000165059	2.7.11.1		9382	protein-coding gene	gene with protein product		176893				2342480, 9598317	Standard	NM_002732		Approved	PKACg	uc004agy.3	P22612	OTTHUMG00000019974	ENST00000377276.2:c.951G>A	9.37:g.71628058C>T							p.P317P	NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN			1	981	-			317			AGC-kinase C-terminal.		O60850|Q5VZ02|Q86YI1	Silent	SNP	ENST00000377276.2	37	c.951G>A	CCDS6625.1																																																																																				0.532	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052559.1			46	24	0	0	0	1	0	46	24				
ZNF180	7733	broad.mit.edu	37	19	44983616	44983616	+	Missense_Mutation	SNP	T	T	C	rs375641920		TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr19:44983616T>C	ENST00000221327.4	-	4	499	c.218A>G	c.(217-219)aAc>aGc	p.N73S	ZNF180_ENST00000585514.1_5'Flank|ZNF180_ENST00000391956.4_Missense_Mutation_p.N48S|ZNF180_ENST00000592529.1_Missense_Mutation_p.N46S|ZNF180_ENST00000587047.1_Intron|ZNF180_ENST00000586637.1_Silent_p.E82E	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	73	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				AATTTTGAAGTTCACTCCTTC	0.483																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)	ENST00000221327.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33						c.(217-219)aAc>aGc		zinc finger protein 180							107.0	101.0	103.0					19																	44983616		2203	4300	6503	SO:0001583	missense	7733				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44983616T>C	AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"""Zinc fingers, C2H2-type"", ""-"""	12970	protein-coding gene	gene with protein product		606740	"""zinc finger protein 180 (HHZ168)"""				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.218A>G	19.37:g.44983616T>C	ENSP00000221327:p.Asn73Ser					ZNF180_ENST00000587047.1_Intron|ZNF180_ENST00000586637.1_Silent_p.E82E|ZNF180_ENST00000592529.1_Missense_Mutation_p.N46S|ZNF180_ENST00000391956.4_Missense_Mutation_p.N48S	p.N73S	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN			4	499	-		Prostate(69;0.0435)	73			KRAB.		B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	ENST00000221327.4	37	c.218A>G	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	T	12.71	2.019815	0.35606	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.01495	4.83;4.83	4.99	0.123	0.14709	Krueppel-associated box (4);	0.497356	0.16976	N	0.191919	T	0.00552	0.0018	N	0.00599	-1.345	0.33289	D	0.563205	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.002;0.004;0.004	T	0.40040	-0.9584	10	0.52906	T	0.07	-12.0483	1.0059	0.01487	0.1608:0.3146:0.1659:0.3586	.	48;72;73	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	S	73;48	ENSP00000221327:N73S;ENSP00000375818:N48S	ENSP00000221327:N73S	N	-	2	0	ZNF180	49675456	0.752000	0.28338	0.636000	0.29352	0.993000	0.82548	0.308000	0.19314	0.311000	0.23014	0.528000	0.53228	AAC		0.483	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256		36	112	0	0	0	1	0	36	112				
SETBP1	26040	broad.mit.edu	37	18	42532422	42532422	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr18:42532422C>G	ENST00000282030.5	+	4	3413	c.3117C>G	c.(3115-3117)agC>agG	p.S1039R		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1039						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AAGGGTTCAGCTACCCTATTC	0.448									Schinzel-Giedion syndrome																													ENST00000282030.5																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104						c.(3115-3117)agC>agG		SET binding protein 1							83.0	69.0	74.0					18																	42532422		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42532422C>G	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.3117C>G	18.37:g.42532422C>G	ENSP00000282030:p.Ser1039Arg						p.S1039R	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	3413	+			1039					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.3117C>G	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	C	10.41	1.341696	0.24339	.	.	ENSG00000152217	ENST00000282030	D	0.90955	-2.76	5.82	5.82	0.92795	.	0.097011	0.64402	D	0.000002	D	0.84638	0.5516	N	0.19112	0.55	0.35701	D	0.815654	D	0.53151	0.958	P	0.47981	0.563	D	0.86997	0.2114	10	0.72032	D	0.01	.	6.148	0.20296	0.1829:0.7064:0.0:0.1107	.	1039	Q9Y6X0	SETBP_HUMAN	R	1039	ENSP00000282030:S1039R	ENSP00000282030:S1039R	S	+	3	2	SETBP1	40786420	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.538000	0.36094	2.761000	0.94854	0.655000	0.94253	AGC		0.448	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		10	39	0	0	0	1	0	10	39				
TRHDE	29953	broad.mit.edu	37	12	72866930	72866930	+	Silent	SNP	T	T	C			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr12:72866930T>C	ENST00000261180.4	+	5	1515	c.1419T>C	c.(1417-1419)ggT>ggC	p.G473G		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	473					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AATTTGTTGGTACAGACTACC	0.423																																						ENST00000261180.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(1417-1419)ggT>ggC		thyrotropin-releasing hormone degrading enzyme							329.0	291.0	304.0					12																	72866930		2203	4300	6503	SO:0001819	synonymous_variant	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72866930T>C	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1419T>C	12.37:g.72866930T>C							p.G473G	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			5	1515	+			473					A5PL19|Q6UWJ4	Silent	SNP	ENST00000261180.4	37	c.1419T>C	CCDS9004.1																																																																																				0.423	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		44	56	0	0	0	1	0	44	56				
CUX1	1523	broad.mit.edu	37	7	101740740	101740740	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr7:101740740T>G	ENST00000292535.7	+	5	403	c.365T>G	c.(364-366)cTg>cGg	p.L122R	CUX1_ENST00000425244.2_Intron|CUX1_ENST00000360264.3_Missense_Mutation_p.L133R|CUX1_ENST00000546411.2_Missense_Mutation_p.L122R|CUX1_ENST00000556210.1_Missense_Mutation_p.L122R|CUX1_ENST00000292538.4_Missense_Mutation_p.L133R|CUX1_ENST00000550008.2_Missense_Mutation_p.L122R|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000437600.4_Missense_Mutation_p.L133R|CUX1_ENST00000393824.3_Missense_Mutation_p.L96R|CUX1_ENST00000547394.2_Missense_Mutation_p.L117R|CUX1_ENST00000549414.2_Missense_Mutation_p.L122R	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	122					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AGGGAAACTCTGGAAGAATAC	0.408																																						ENST00000360264.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(397-399)cTg>cGg		cut-like homeobox 1							91.0	95.0	94.0					7																	101740740		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101740740T>G	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.365T>G	7.37:g.101740740T>G	ENSP00000292535:p.Leu122Arg					CUX1_ENST00000437600.4_Missense_Mutation_p.L133R|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000547394.2_Missense_Mutation_p.L117R|CUX1_ENST00000546411.2_Missense_Mutation_p.L122R|CUX1_ENST00000292538.4_Missense_Mutation_p.L133R|CUX1_ENST00000292535.7_Missense_Mutation_p.L122R|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000556210.1_Missense_Mutation_p.L122R|CUX1_ENST00000549414.2_Missense_Mutation_p.L122R|CUX1_ENST00000550008.2_Missense_Mutation_p.L122R|CUX1_ENST00000393824.3_Missense_Mutation_p.L96R	p.L133R	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN			5	418	+			122					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.398T>G	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.537151	0.85812	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000360264;ENST00000393824;ENST00000437600;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;D;T;T;T	0.83591	1.03;1.03;1.03;1.03;1.03;-1.74;1.03;1.03;1.03	6.06	6.06	0.98353	.	0.170205	0.41001	D	0.000967	D	0.88793	0.6533	L	0.53617	1.68	0.80722	D	1	D;D;D;D;P;D	0.89917	1.0;0.999;1.0;1.0;0.858;1.0	D;D;D;D;B;D	0.91635	0.963;0.998;0.998;0.998;0.418;0.999	D	0.87937	0.2714	10	0.40728	T	0.16	-20.3789	15.1804	0.72952	0.0:0.0:0.0:1.0	.	96;122;117;133;133;133	B4DZZ2;P39880;G3V1Z6;Q13948-2;Q13948;P39880-3	.;CUX1_HUMAN;.;.;CASP_HUMAN;.	R	133;117;133;133;133;122;122;122;122;122	ENSP00000292538:L133R;ENSP00000449371:L117R;ENSP00000353401:L133R;ENSP00000414091:L133R;ENSP00000292535:L122R;ENSP00000446630:L122R;ENSP00000447373:L122R;ENSP00000450125:L122R;ENSP00000451558:L122R	ENSP00000292535:L122R	L	+	2	0	CUX1	101527460	1.000000	0.71417	0.183000	0.23137	0.971000	0.66376	7.407000	0.80029	2.324000	0.78689	0.533000	0.62120	CTG		0.408	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		5	67	0	0	0	1	0	5	67				
IL16	3603	broad.mit.edu	37	15	81591957	81591957	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr15:81591957G>A	ENST00000302987.4	+	13	2290	c.2290G>A	c.(2290-2292)Gcc>Acc	p.A764T	IL16_ENST00000560230.1_3'UTR|IL16_ENST00000394660.2_Missense_Mutation_p.A764T|IL16_ENST00000394652.2_Missense_Mutation_p.A63T			Q14005	IL16_HUMAN	interleukin 16	764					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A718T(1)|p.A764T(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GCTGGACACCGCCAATGGCAC	0.557																																						ENST00000394660.2																			2	Substitution - Missense(2)	p.A718T(1)|p.A764T(1)	kidney(2)	NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						c.(2290-2292)Gcc>Acc		interleukin 16							79.0	82.0	81.0					15																	81591957		2203	4300	6503	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81591957G>A	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.2290G>A	15.37:g.81591957G>A	ENSP00000302935:p.Ala764Thr					IL16_ENST00000394652.2_Missense_Mutation_p.A63T|IL16_ENST00000302987.4_Missense_Mutation_p.A764T|IL16_ENST00000560230.1_3'UTR	p.A764T	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN			14	2650	+			764					A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.2290G>A	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	G	2.842	-0.240338	0.05944	.	.	ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000329842;ENST00000394653;ENST00000394652;ENST00000394656	T;T;T	0.10573	2.86;2.86;3.45	4.78	1.65	0.23941	.	0.670270	0.12971	N	0.424102	T	0.03390	0.0098	N	0.03268	-0.37	0.09310	N	1	B;B;B;B;B;B	0.24823	0.013;0.07;0.007;0.112;0.002;0.007	B;B;B;B;B;B	0.14023	0.004;0.007;0.001;0.01;0.003;0.003	T	0.44997	-0.9291	10	0.14252	T	0.57	.	3.3832	0.07262	0.0977:0.1711:0.5546:0.1767	.	596;258;301;154;764;764	F8W7Z5;Q6ZTT5;B7Z8M3;B3KY62;Q14005;Q14005-2	.;.;.;.;IL16_HUMAN;.	T	764;596;764;301;154;63;63	ENSP00000378155:A764T;ENSP00000302935:A764T;ENSP00000378147:A63T	ENSP00000302935:A764T	A	+	1	0	IL16	79379012	0.002000	0.14202	0.001000	0.08648	0.003000	0.03518	0.629000	0.24538	0.023000	0.15187	0.655000	0.94253	GCC		0.557	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		44	52	0	0	0	1	0	44	52				
ADAMTS16	170690	broad.mit.edu	37	5	5319209	5319209	+	Silent	SNP	C	C	T	rs367839151		TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr5:5319209C>T	ENST00000274181.7	+	23	3771	c.3633C>T	c.(3631-3633)taC>taT	p.Y1211Y		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1211	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Y1211Y(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ACAAGTTCTACGGCAAGCAGT	0.522													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20503	0.0		0.0	False		,,,				2504	0.0					ENST00000274181.7																			1	Substitution - coding silent(1)	p.Y1211Y(1)	endometrium(1)	breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(3631-3633)taC>taT		ADAM metallopeptidase with thrombospondin type 1 motif, 16		C		1,4037		0,1,2018	48.0	50.0	50.0		3633	1.8	1.0	5		50	0,8360		0,0,4180	no	coding-synonymous	ADAMTS16	NM_139056.2		0,1,6198	TT,TC,CC		0.0,0.0248,0.0081		1211/1225	5319209	1,12397	2019	4180	6199	SO:0001819	synonymous_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5319209C>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.3633C>T	5.37:g.5319209C>T							p.Y1211Y	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			23	3771	+			1211			PLAC.		C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	c.3633C>T	CCDS43299.1																																																																																				0.522	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		10	13	0	0	0	1	0	10	13				
ZMYM1	79830	broad.mit.edu	37	1	35580081	35580081	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr1:35580081A>G	ENST00000373330.1	+	11	2824	c.2650A>G	c.(2650-2652)Ata>Gta	p.I884V	ZMYM1_ENST00000359858.4_Missense_Mutation_p.I884V|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	884						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAATAAAACCATAGACATTTT	0.313																																						ENST00000373330.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31						c.(2650-2652)Ata>Gta		zinc finger, MYM-type 1							32.0	29.0	30.0					1																	35580081		1786	4060	5846	SO:0001583	missense	79830					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	g.chr1:35580081A>G	AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"""Zinc fingers, MYM type"""	26253	protein-coding gene	gene with protein product			"""zinc finger, MYM domain containing 1"""			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.2650A>G	1.37:g.35580081A>G	ENSP00000362427:p.Ile884Val					ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.I884V	p.I884V			Q5SVZ6	ZMYM1_HUMAN			11	2824	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	884					D3DPR7|Q7Z3Q4	Missense_Mutation	SNP	ENST00000373330.1	37	c.2650A>G	CCDS41302.1	.	.	.	.	.	.	.	.	.	.	A	0	-2.769658	0.00081	.	.	ENSG00000197056	ENST00000359858;ENST00000373329;ENST00000373330	T;T;T	0.20069	2.1;2.1;2.1	4.98	-0.379	0.12493	Ribonuclease H-like (1);	0.530164	0.17432	N	0.174453	T	0.07369	0.0186	N	0.11560	0.145	0.20638	N	0.999876	B;B	0.14438	0.001;0.01	B;B	0.08055	0.001;0.003	T	0.28299	-1.0048	9	.	.	.	-4.162	1.4278	0.02327	0.5392:0.1468:0.1722:0.1419	.	865;884	B4DSJ9;Q5SVZ6	.;ZMYM1_HUMAN	V	884;809;884	ENSP00000352920:I884V;ENSP00000362426:I809V;ENSP00000362427:I884V	.	I	+	1	0	ZMYM1	35352668	0.996000	0.38824	0.617000	0.29091	0.099000	0.18886	1.196000	0.32198	-0.150000	0.11195	-0.475000	0.04921	ATA		0.313	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772		24	8	0	0	0	1	0	24	8				
RFC5	5985	broad.mit.edu	37	12	118456893	118456893	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr12:118456893C>A	ENST00000454402.2	+	2	200	c.82C>A	c.(82-84)Cca>Aca	p.P28T	RFC5_ENST00000229043.3_5'UTR|RFC5_ENST00000392542.2_Missense_Mutation_p.P7T	NM_001206801.1|NM_007370.5	NP_001193730.1|NP_031396.1	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	28					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAAATACCGGCCACAGACCCT	0.373																																						ENST00000392542.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9						c.(19-21)Cca>Aca		replication factor C (activator 1) 5, 36.5kDa							107.0	100.0	103.0					12																	118456893		2203	4300	6503	SO:0001583	missense	5985				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme binding	g.chr12:118456893C>A		CCDS9185.1, CCDS41843.2	12q24.3	2010-04-21	2002-08-29		ENSG00000111445	ENSG00000111445		"""ATPases / AAA-type"""	9973	protein-coding gene	gene with protein product		600407	"""replication factor C (activator 1) 5 (36.5kD)"""			7774928	Standard	NM_007370		Approved	RFC36	uc001twq.3	P40937	OTTHUMG00000156438	ENST00000454402.2:c.82C>A	12.37:g.118456893C>A	ENSP00000408295:p.Pro28Thr					RFC5_ENST00000454402.2_Missense_Mutation_p.P28T|RFC5_ENST00000229043.3_5'UTR	p.P7T	NM_181578.3	NP_853556.2	P40937	RFC5_HUMAN			3	552	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		28					A8MZ62|B3KSX8	Missense_Mutation	SNP	ENST00000454402.2	37	c.19C>A	CCDS9185.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287402	0.80803	.	.	ENSG00000111445	ENST00000484086;ENST00000420967;ENST00000454402;ENST00000392542;ENST00000535092	T;T;T;T;T	0.75050	0.59;0.59;0.61;-0.9;0.59	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.89622	0.6768	M	0.93763	3.455	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92358	0.5895	10	0.87932	D	0	-0.0675	16.7575	0.85503	0.0:1.0:0.0:0.0	.	7;42;28	A8MZ62;Q59GW7;P40937	.;.;RFC5_HUMAN	T	60;7;28;7;7	ENSP00000445917:P60T;ENSP00000390340:P7T;ENSP00000408295:P28T;ENSP00000376325:P7T;ENSP00000438252:P7T	ENSP00000376325:P7T	P	+	1	0	RFC5	116941276	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.955000	0.76007	2.480000	0.83734	0.563000	0.77884	CCA		0.373	RFC5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344196.2	NM_007370		30	39	1	0	2.65835e-16	1	2.91982e-16	30	39				
NPBWR2	2832	broad.mit.edu	37	20	62737451	62737451	+	Missense_Mutation	SNP	C	C	T	rs370307704		TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr20:62737451C>T	ENST00000369768.1	-	1	1073	c.734G>A	c.(733-735)cGc>cAc	p.R245H		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	245					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					GGCTCCAGAGCGGAGCCGCAC	0.667																																						ENST00000369768.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(733-735)cGc>cAc		neuropeptides B/W receptor 2		C	HIS/ARG	0,4390		0,0,2195	44.0	40.0	42.0		734	-2.9	0.0	20		42	1,8579	1.2+/-3.3	0,1,4289	no	missense	NPBWR2	NM_005286.2	29	0,1,6484	TT,TC,CC		0.0117,0.0,0.0077	benign	245/334	62737451	1,12969	2195	4290	6485	SO:0001583	missense	2832					plasma membrane	opioid receptor activity|protein binding	g.chr20:62737451C>T	U22492	CCDS13557.1	20q13.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000125522	ENSG00000125522		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4530	protein-coding gene	gene with protein product		600731	"""G protein-coupled receptor 8"""	GPR8		12401809	Standard	NM_005286		Approved		uc011abt.2	P48146	OTTHUMG00000033032	ENST00000369768.1:c.734G>A	20.37:g.62737451C>T	ENSP00000358783:p.Arg245His						p.R245H	NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN			1	1073	-	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)		245					Q6NWQ6|Q9H4K3	Missense_Mutation	SNP	ENST00000369768.1	37	c.734G>A	CCDS13557.1	.	.	.	.	.	.	.	.	.	.	C	5.733	0.319668	0.10845	0.0	1.17E-4	ENSG00000125522	ENST00000369768	T	0.73047	-0.71	4.01	-2.94	0.05581	GPCR, rhodopsin-like superfamily (1);	0.269687	0.32416	N	0.006140	T	0.39200	0.1069	N	0.05124	-0.11	0.20563	N	0.999888	B	0.02656	0.0	B	0.04013	0.001	T	0.15150	-1.0447	10	0.27082	T	0.32	.	5.6891	0.17819	0.1269:0.1336:0.0:0.7395	.	245	P48146	NPBW2_HUMAN	H	245	ENSP00000358783:R245H	ENSP00000358783:R245H	R	-	2	0	NPBWR2	62207895	0.951000	0.32395	0.000000	0.03702	0.033000	0.12548	0.895000	0.28363	-0.829000	0.04268	0.491000	0.48974	CGC		0.667	NPBWR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080300.1	NM_005286		9	21	0	0	0	1	0	9	21				
OR5L2	26338	broad.mit.edu	37	11	55594934	55594934	+	Missense_Mutation	SNP	G	G	T	rs375385745		TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr11:55594934G>T	ENST00000378397.1	+	1	240	c.240G>T	c.(238-240)aaG>aaT	p.K80N		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TTGTGCCAAAGATGTTGGCTA	0.463										HNSCC(27;0.073)																												ENST00000378397.1																			0				breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(238-240)aaG>aaT		olfactory receptor, family 5, subfamily L, member 2							219.0	203.0	208.0					11																	55594934		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55594934G>T	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.240G>T	11.37:g.55594934G>T	ENSP00000367650:p.Lys80Asn	HNSCC(27;0.073)					p.K80N	NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN			1	240	+		all_epithelial(135;0.208)	80					Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.240G>T	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	12.49	1.953433	0.34471	.	.	ENSG00000205030	ENST00000378397	T	0.01359	4.98	5.13	0.939	0.19506	GPCR, rhodopsin-like superfamily (1);	0.118221	0.37955	N	0.001876	T	0.04815	0.0130	M	0.73319	2.225	0.21950	N	0.999459	D	0.76494	0.999	D	0.72982	0.979	T	0.23261	-1.0193	10	0.52906	T	0.07	-28.0393	4.3801	0.11290	0.2409:0.0:0.4922:0.2669	.	80	Q8NGL0	OR5L2_HUMAN	N	80	ENSP00000367650:K80N	ENSP00000367650:K80N	K	+	3	2	OR5L2	55351510	0.000000	0.05858	0.914000	0.36105	0.405000	0.30901	-0.622000	0.05553	0.253000	0.21552	-0.189000	0.12847	AAG		0.463	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		55	139	1	0	1.54886e-18	1	1.72956e-18	55	139				
SLCO1B3	28234	broad.mit.edu	37	12	21028240	21028240	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr12:21028240C>A	ENST00000381545.3	+	9	1018	c.799C>A	c.(799-801)Cta>Ata	p.L267I	SLCO1B3_ENST00000553473.1_Missense_Mutation_p.L267I|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.L267I|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.L267I|LST3_ENST00000381541.3_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	267					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TGTGTCTGGACTATTTTCCAT	0.378																																						ENST00000381545.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63						c.(799-801)Cta>Ata		solute carrier organic anion transporter family, member 1B3							201.0	196.0	197.0					12																	21028240		2203	4300	6503	SO:0001583	missense	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21028240C>A		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.799C>A	12.37:g.21028240C>A	ENSP00000370956:p.Leu267Ile					SLCO1B3_ENST00000553473.1_Missense_Mutation_p.L267I|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.L267I|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.L267I	p.L267I	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN			9	1018	+	Esophageal squamous(101;0.149)		267					E7EMT8|Q5JAR4	Missense_Mutation	SNP	ENST00000381545.3	37	c.799C>A	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	.	0.022	-1.418007	0.01136	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000540853;ENST00000261196;ENST00000381545;ENST00000553473;ENST00000544370;ENST00000540229	T;T;T;T;T;T	0.80480	0.35;0.35;0.35;0.35;-1.38;0.35	3.92	-7.83	0.01201	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.612610	0.03265	N	0.183807	T	0.54983	0.1892	N	0.11789	0.175	0.09310	N	1	B;B;B	0.15930	0.015;0.002;0.002	B;B;B	0.18561	0.022;0.013;0.013	T	0.56944	-0.7895	10	0.02654	T	1	.	4.4666	0.11692	0.4898:0.1173:0.3121:0.0808	.	267;267;267	Q5JAR4;B3KP78;Q9NPD5	.;.;SO1B3_HUMAN	I	267;267;267;267;91;267	ENSP00000442000:L267I;ENSP00000261196:L267I;ENSP00000370956:L267I;ENSP00000451758:L267I;ENSP00000443225:L91I;ENSP00000441269:L267I	ENSP00000441269:L267I	L	+	1	2	SLCO1B3;RP11-545J16.1	20919507	0.000000	0.05858	0.001000	0.08648	0.773000	0.43773	-1.734000	0.01848	-2.240000	0.00710	0.461000	0.40582	CTA		0.378	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		22	172	1	0	1.96292e-10	1	2.10988e-10	22	172				
ZNF549	256051	broad.mit.edu	37	19	58049114	58049114	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr19:58049114A>G	ENST00000376233.3	+	4	923	c.742A>G	c.(742-744)Aag>Gag	p.K248E	ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.K235E	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	248					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K235*(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAAAGCTTATAAGCGTAGGGA	0.383																																						ENST00000376233.3																			1	Substitution - Nonsense(1)	p.K235*(1)	breast(1)	NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(742-744)Aag>Gag		zinc finger protein 549							68.0	69.0	69.0					19																	58049114		2203	4300	6503	SO:0001583	missense	256051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58049114A>G	AK092236	CCDS12952.1, CCDS56106.1	19q13.43	2013-01-08				ENSG00000121406		"""Zinc fingers, C2H2-type"", ""-"""	26632	protein-coding gene	gene with protein product						12477932	Standard	NM_153263		Approved	FLJ34917	uc002qpb.2	Q6P9A3		ENST00000376233.3:c.742A>G	19.37:g.58049114A>G	ENSP00000365407:p.Lys248Glu					ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.K235E	p.K248E	NM_001199295.1	NP_001186224.1	Q6P9A3	ZN549_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	923	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	248					B3KV91|O43336|Q8NAR4	Missense_Mutation	SNP	ENST00000376233.3	37	c.742A>G	CCDS56106.1	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.580346	0.00879	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	T;T	0.28895	1.59;1.59	2.76	-1.56	0.08532	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10551	0.0258	N	0.11154	0.105	0.09310	N	1	B;B	0.19200	0.0;0.034	B;B	0.19148	0.0;0.024	T	0.32666	-0.9898	9	0.02654	T	1	.	2.9408	0.05829	0.447:0.0:0.3572:0.1958	.	248;235	Q6P9A3;Q6P9A3-2	ZN549_HUMAN;.	E	235;248	ENSP00000240719:K235E;ENSP00000365407:K248E	ENSP00000240719:K235E	K	+	1	0	ZNF549	62740926	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-3.463000	0.00462	-0.381000	0.07882	0.528000	0.53228	AAG		0.383	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466780.1	NM_153263		42	55	0	0	0	1	0	42	55				
SLC2A2	6514	broad.mit.edu	37	3	170716163	170716163	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr3:170716163T>A	ENST00000314251.3	-	10	1272	c.1193A>T	c.(1192-1194)tAt>tTt	p.Y398F	SLC2A2_ENST00000382808.4_Missense_Mutation_p.Y279F	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	398					carbohydrate metabolic process (GO:0005975)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transmembrane transport (GO:0035428)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	brush border (GO:0005903)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|hexose transmembrane transporter activity (GO:0015149)			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		Streptozocin(DB00428)	CATGCTCACATAACTCATCCA	0.433																																						ENST00000314251.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1192-1194)tAt>tTt		solute carrier family 2 (facilitated glucose transporter), member 2							46.0	48.0	47.0					3																	170716163		2203	4300	6503	SO:0001583	missense	6514				carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity	g.chr3:170716163T>A	J03810	CCDS3215.1	3q26.2-q27	2013-05-22			ENSG00000163581	ENSG00000163581		"""Solute carriers"""	11006	protein-coding gene	gene with protein product		138160		GLUT2		1852621	Standard	NM_000340		Approved		uc003fhe.1	P11168	OTTHUMG00000158997	ENST00000314251.3:c.1193A>T	3.37:g.170716163T>A	ENSP00000323568:p.Tyr398Phe					SLC2A2_ENST00000382808.4_Missense_Mutation_p.Y279F	p.Y398F	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		10	1272	-	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		398					A8K481|B2R936|B7Z547|F8W8V8|Q9UCW9	Missense_Mutation	SNP	ENST00000314251.3	37	c.1193A>T	CCDS3215.1	.	.	.	.	.	.	.	.	.	.	T	18.66	3.672424	0.67928	.	.	ENSG00000163581	ENST00000314251;ENST00000382808	T;T	0.80123	-1.34;-1.34	6.06	6.06	0.98353	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.83529	0.5274	L	0.60845	1.875	0.80722	D	1	P	0.44986	0.847	P	0.49047	0.599	D	0.84193	0.0446	10	0.52906	T	0.07	.	16.6127	0.84892	0.0:0.0:0.0:1.0	.	398	P11168	GTR2_HUMAN	F	398;279	ENSP00000323568:Y398F;ENSP00000372258:Y279F	ENSP00000323568:Y398F	Y	-	2	0	SLC2A2	172198857	1.000000	0.71417	0.957000	0.39632	0.356000	0.29392	7.698000	0.84413	2.322000	0.78497	0.528000	0.53228	TAT		0.433	SLC2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352834.1	NM_000340		14	34	0	0	0	1	0	14	34				
RADIL	55698	broad.mit.edu	37	7	4917507	4917507	+	Silent	SNP	G	G	A	rs546360186		TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr7:4917507G>A	ENST00000399583.3	-	2	451	c.264C>T	c.(262-264)agC>agT	p.S88S	RADIL_ENST00000536091.1_Silent_p.S88S	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	88	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GCTCACGGGCGCTGGAGGTGC	0.672																																						ENST00000399583.3																			0				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(262-264)agC>agT		Ras association and DIL domains							21.0	27.0	25.0					7																	4917507		1996	4126	6122	SO:0001819	synonymous_variant	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4917507G>A	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.264C>T	7.37:g.4917507G>A						RADIL_ENST00000536091.1_Silent_p.S88S	p.S88S	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	2	451	-		Ovarian(82;0.0175)	88			Ras-associating.		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Silent	SNP	ENST00000399583.3	37	c.264C>T	CCDS43544.1																																																																																				0.672	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		4	42	0	0	0	1	0	4	42				
EP400	57634	broad.mit.edu	37	12	132547138	132547138	+	Silent	SNP	A	A	G	rs111782215|rs561398509	byFrequency	TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr12:132547138A>G	ENST00000333577.4	+	48	8443	c.8334A>G	c.(8332-8334)caA>caG	p.Q2778Q	EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000330386.6_Silent_p.Q2661Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2741Q(3)|p.Q2742Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcaacagcagcagc	0.602													G|||	74	0.0147764	0.028	0.0086	5008	,	,		14914	0.0079		0.0119	False		,,,				2504	0.0112					ENST00000333577.4																			4	Substitution - coding silent(4)	p.Q2741Q(3)|p.Q2742Q(1)	prostate(2)|endometrium(1)|kidney(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8332-8334)caA>caG		E1A binding protein p400							48.0	40.0	43.0					12																	132547138		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547138A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8334A>G	12.37:g.132547138A>G						EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000389561.2_Silent_p.Q2742Q	p.Q2778Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8443	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2778			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8334A>G																																																																																					0.602	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		4	43	0	0	0	1	0	4	43				
ADCY8	114	broad.mit.edu	37	8	131964216	131964216	+	Missense_Mutation	SNP	C	C	T	rs373225005		TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr8:131964216C>T	ENST00000286355.5	-	3	3231	c.1139G>A	c.(1138-1140)cGg>cAg	p.R380Q	ADCY8_ENST00000377928.3_Missense_Mutation_p.R380Q|RP11-737F9.1_ENST00000523318.1_RNA	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	380					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GACAACAAACCGGGGGAGCAC	0.547										HNSCC(32;0.087)																												ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(1138-1140)cGg>cAg		adenylate cyclase 8 (brain)							115.0	97.0	103.0					8																	131964216		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131964216C>T	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1139G>A	8.37:g.131964216C>T	ENSP00000286355:p.Arg380Gln	HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Missense_Mutation_p.R380Q	p.R380Q	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		3	3231	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		380						Missense_Mutation	SNP	ENST00000286355.5	37	c.1139G>A	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.955702	0.92726	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.79554	-1.28;-1.28	5.22	5.22	0.72569	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.000000	0.85682	D	0.000000	D	0.84401	0.5464	L	0.38175	1.15	0.44685	D	0.997672	D;D	0.76494	0.997;0.999	D;P	0.67725	0.953;0.591	T	0.82204	-0.0573	10	0.30078	T	0.28	.	18.1219	0.89574	0.0:1.0:0.0:0.0	.	380;380	E7EVL1;P40145	.;ADCY8_HUMAN	Q	380	ENSP00000286355:R380Q;ENSP00000367161:R380Q	ENSP00000286355:R380Q	R	-	2	0	ADCY8	132033398	1.000000	0.71417	0.962000	0.40283	0.939000	0.58152	6.012000	0.70767	2.566000	0.86566	0.655000	0.94253	CGG		0.547	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			41	33	0	0	0	1	0	41	33				
ZNF569	148266	broad.mit.edu	37	19	37917207	37917207	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr19:37917207C>T	ENST00000316950.6	-	4	646	c.89G>A	c.(88-90)aGa>aAa	p.R30K	ZNF569_ENST00000392149.2_Missense_Mutation_p.R30K|ZNF569_ENST00000592490.1_Intron|ZNF569_ENST00000591073.1_5'Flank|ZNF569_ENST00000392150.2_Intron|ZNF569_ENST00000589833.1_Missense_Mutation_p.R54K	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	30	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTACAGTTTTCTCTGAGCAGG	0.388																																						ENST00000316950.6																			0				breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(88-90)aGa>aAa		zinc finger protein 569							142.0	129.0	134.0					19																	37917207		2203	4300	6503	SO:0001583	missense	148266				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37917207C>T	AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.89G>A	19.37:g.37917207C>T	ENSP00000325018:p.Arg30Lys					ZNF569_ENST00000392150.2_Intron|ZNF569_ENST00000392149.2_Missense_Mutation_p.R30K|ZNF569_ENST00000592490.1_Intron|ZNF569_ENST00000589833.1_Missense_Mutation_p.R54K	p.R30K	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	646	-			30			KRAB.		A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	ENST00000316950.6	37	c.89G>A	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	C	9.535	1.111831	0.20714	.	.	ENSG00000196437	ENST00000316950	T	0.01685	4.69	3.59	2.56	0.30785	Krueppel-associated box (4);	.	.	.	.	T	0.01061	0.0035	N	0.20610	0.595	0.80722	D	1	B	0.29301	0.241	B	0.23275	0.045	T	0.53634	-0.8411	9	0.09590	T	0.72	.	4.9135	0.13835	0.0:0.7542:0.0:0.2458	.	30	Q5MCW4	ZN569_HUMAN	K	30	ENSP00000325018:R30K	ENSP00000325018:R30K	R	-	2	0	ZNF569	42609047	0.724000	0.28038	1.000000	0.80357	0.983000	0.72400	1.363000	0.34159	1.993000	0.58246	0.563000	0.77884	AGA		0.388	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484		27	39	0	0	0	1	0	27	39				
ZNF112	7771	broad.mit.edu	37	19	44831819	44831819	+	Missense_Mutation	SNP	C	C	T	rs565598869	byFrequency	TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr19:44831819C>T	ENST00000337401.4	-	5	2597	c.2509G>A	c.(2509-2511)Gta>Ata	p.V837I	ZNF112_ENST00000354340.4_Missense_Mutation_p.V831I|ZNF112_ENST00000536500.1_Missense_Mutation_p.V854I	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	837					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TTTCCACATACCTCACATTTG	0.448													C|||	3	0.000599042	0.0	0.0	5008	,	,		19559	0.003		0.0	False		,,,				2504	0.0					ENST00000354340.4																			0											c.(2491-2493)Gta>Ata		zinc finger protein 112							151.0	148.0	149.0					19																	44831819		2203	4300	6503	SO:0001583	missense	7665							g.chr19:44831819C>T	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.2509G>A	19.37:g.44831819C>T	ENSP00000337081:p.Val837Ile					ZNF112_ENST00000337401.4_Missense_Mutation_p.V837I|ZNF112_ENST00000536500.1_Missense_Mutation_p.V854I	p.V831I	NM_013380.3	NP_037512.3					4	2542	-								A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	c.2491G>A	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.844699	0.32606	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.06371	3.31;3.31;3.31	5.07	2.83	0.33086	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.277119	0.19278	N	0.118232	T	0.04952	0.0133	N	0.25060	0.705	0.09310	N	1	P;P;P	0.43231	0.801;0.763;0.801	B;B;B	0.40741	0.339;0.229;0.339	T	0.38243	-0.9670	10	0.41790	T	0.15	-8.0747	9.6248	0.39743	0.0:0.7691:0.1467:0.0842	.	836;854;837	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	I	837;837;831;854;836	ENSP00000337081:V837I;ENSP00000346305:V831I;ENSP00000441990:V854I	ENSP00000253426:V836I	V	-	1	0	ZNF285	49523659	0.000000	0.05858	0.996000	0.52242	0.993000	0.82548	-0.064000	0.11636	2.521000	0.84997	0.563000	0.77884	GTA		0.448	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		40	175	0	0	0	1	0	40	175				
NRXN1	9378	broad.mit.edu	37	2	50318532	50318532	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr2:50318532C>T	ENST00000406316.2	-	19	5123	c.3647G>A	c.(3646-3648)cGt>cAt	p.R1216H	NRXN1_ENST00000402717.3_Missense_Mutation_p.R1208H|NRXN1_ENST00000401669.2_Missense_Mutation_p.R1216H|NRXN1_ENST00000404971.1_Missense_Mutation_p.R1256H|NRXN1_ENST00000405472.3_Missense_Mutation_p.R1208H|NRXN1_ENST00000342183.5_Missense_Mutation_p.R181H|NRXN1_ENST00000406859.3_Missense_Mutation_p.R1216H|NRXN1_ENST00000401710.1_Missense_Mutation_p.R234H	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1216	Laminin G-like 6. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.R1257H(1)|p.R181H(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCTCGTGAAACGAACTACATG	0.473																																						ENST00000404971.1																			2	Substitution - Missense(2)	p.R1257H(1)|p.R181H(1)	large_intestine(2)	breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(3766-3768)cGt>cAt		neurexin 1							239.0	208.0	218.0					2																	50318532		2203	4300	6503	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50318532C>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3647G>A	2.37:g.50318532C>T	ENSP00000384311:p.Arg1216His					NRXN1_ENST00000406859.3_Missense_Mutation_p.R1216H|NRXN1_ENST00000401710.1_Missense_Mutation_p.R234H|NRXN1_ENST00000406316.2_Missense_Mutation_p.R1216H|NRXN1_ENST00000405472.3_Missense_Mutation_p.R1208H|NRXN1_ENST00000402717.3_Missense_Mutation_p.R1208H|NRXN1_ENST00000401669.2_Missense_Mutation_p.R1216H|NRXN1_ENST00000342183.5_Missense_Mutation_p.R181H	p.R1256H	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		20	5106	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	1216			Laminin G-like 6.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.3767G>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255044	0.59321	.	.	ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18	5.54	5.54	0.83059	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.121992	0.29106	U	0.013137	T	0.78842	0.4347	M	0.85099	2.735	0.37738	D	0.925539	B;P;B;B	0.42039	0.326;0.769;0.081;0.011	B;B;B;B	0.30105	0.027;0.111;0.026;0.007	D	0.85236	0.1035	10	0.62326	D	0.03	.	19.4609	0.94916	0.0:1.0:0.0:0.0	.	1256;181;1216;1208	Q9ULB1-3;P58400;F8WB18;A7E294	.;NRX1B_HUMAN;.;.	H	181;135;234;1256;1216;1208;1216;1257;1208;1216	ENSP00000341184:R181H;ENSP00000385580:R234H;ENSP00000385142:R1256H;ENSP00000384311:R1216H;ENSP00000434015:R1208H;ENSP00000385017:R1216H;ENSP00000385434:R1208H;ENSP00000385681:R1216H	ENSP00000341184:R181H	R	-	2	0	NRXN1	50172036	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	3.140000	0.50585	2.600000	0.87896	0.563000	0.77884	CGT		0.473	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			69	227	0	0	0	1	0	69	227				
PCBP2	5094	broad.mit.edu	37	12	53849719	53849719	+	Silent	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr12:53849719C>T	ENST00000439930.3	+	4	199	c.177C>T	c.(175-177)atC>atT	p.I59I	PCBP2_ENST00000437231.1_Silent_p.I59I|PCBP2_ENST00000359282.5_Silent_p.I59I|PCBP2_ENST00000552819.1_Silent_p.I59I|PCBP2_ENST00000549863.1_Silent_p.I59I|PCBP2_ENST00000541275.1_Silent_p.I59I|PCBP2_ENST00000359462.5_Silent_p.I59I|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000455667.3_Silent_p.I59I|PCBP2_ENST00000552296.2_Silent_p.I59I|PCBP2_ENST00000546463.1_Silent_p.I59I|PCBP2_ENST00000603815.1_Silent_p.I59I|PCBP2_ENST00000447282.1_Silent_p.I59I|PCBP2_ENST00000548933.1_Silent_p.I59I			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	59	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						AGAGAATTATCACTTTGGCTG	0.403																																						ENST00000603815.1																			0				central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						c.(175-177)atC>atT		poly(rC) binding protein 2							213.0	200.0	204.0					12																	53849719		2203	4300	6503	SO:0001819	synonymous_variant	5094				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding	g.chr12:53849719C>T	BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"""heterogenous nuclear ribonucleoprotein E2"""	601210	"""poly(rC)-binding protein 2"""			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.177C>T	12.37:g.53849719C>T						PCBP2_ENST00000546463.1_Silent_p.I59I|PCBP2_ENST00000548933.1_Silent_p.I59I|PCBP2_ENST00000549863.1_Silent_p.I59I|PCBP2_ENST00000552296.2_Silent_p.I59I|PCBP2_ENST00000541275.1_Silent_p.I59I|PCBP2_ENST00000552819.1_Silent_p.I59I|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000455667.3_Silent_p.I59I|PCBP2_ENST00000447282.1_Silent_p.I59I|PCBP2_ENST00000439930.3_Silent_p.I59I|PCBP2_ENST00000437231.1_Silent_p.I59I|PCBP2_ENST00000359462.5_Silent_p.I59I|PCBP2_ENST00000359282.5_Silent_p.I59I	p.I59I	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN			5	527	+			59			KH 1.		A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Silent	SNP	ENST00000439930.3	37	c.177C>T	CCDS44901.1																																																																																				0.403	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407545.2	NM_005016		36	101	0	0	0	1	0	36	101				
UBXN4	23190	broad.mit.edu	37	2	136528287	136528287	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr2:136528287A>G	ENST00000272638.9	+	8	1115	c.804A>G	c.(802-804)atA>atG	p.I268M	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	268					response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						GAGAACGTATAAAACAGCAGA	0.373																																						ENST00000272638.9																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						c.(802-804)atA>atG		UBX domain protein 4							96.0	95.0	96.0					2																	136528287		1904	4121	6025	SO:0001583	missense	23190				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding	g.chr2:136528287A>G	D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"""UBX domain containing"""	14860	protein-coding gene	gene with protein product	"""erasin"""	611216	"""UBX domain-containing 2"", ""UBX domain containing 2"""	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.804A>G	2.37:g.136528287A>G	ENSP00000272638:p.Ile268Met					UBXN4_ENST00000490163.1_3'UTR	p.I268M	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN			8	1115	+			268					A8K9W4|Q4ZG56|Q8IYM5	Missense_Mutation	SNP	ENST00000272638.9	37	c.804A>G	CCDS42761.1	.	.	.	.	.	.	.	.	.	.	A	17.25	3.340954	0.60963	.	.	ENSG00000144224	ENST00000272638;ENST00000430594	T	0.13307	2.6	5.54	1.41	0.22369	.	0.054041	0.85682	D	0.000000	T	0.32466	0.0830	M	0.88105	2.93	0.52501	D	0.999952	D	0.63880	0.993	P	0.59288	0.855	T	0.03933	-1.0991	10	0.87932	D	0	.	6.4557	0.21928	0.3305:0.3084:0.0:0.3611	.	268	Q92575	UBXN4_HUMAN	M	268;250	ENSP00000272638:I268M	ENSP00000272638:I268M	I	+	3	3	UBXN4	136244757	0.999000	0.42202	0.999000	0.59377	0.990000	0.78478	0.673000	0.25203	-0.023000	0.13963	-0.480000	0.04831	ATA		0.373	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331696.1	NM_014607		20	18	0	0	0	1	0	20	18				
GRIK4	2900	broad.mit.edu	37	11	120776051	120776051	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr11:120776051A>G	ENST00000527524.2	+	13	1612	c.1325A>G	c.(1324-1326)gAc>gGc	p.D442G	GRIK4_ENST00000438375.2_Missense_Mutation_p.D442G	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	442					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		GAAGGCAATGACCGCTACGAG	0.537																																						ENST00000527524.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69						c.(1324-1326)gAc>gGc		glutamate receptor, ionotropic, kainate 4	L-Glutamic Acid(DB00142)						195.0	192.0	193.0					11																	120776051		2203	4299	6502	SO:0001583	missense	2900				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120776051A>G	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1325A>G	11.37:g.120776051A>G	ENSP00000435648:p.Asp442Gly					GRIK4_ENST00000438375.2_Missense_Mutation_p.D442G	p.D442G			Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	13	1612	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	442					A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	c.1325A>G	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.735322	0.89482	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.06933	3.24;3.24	5.47	5.47	0.80525	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.22205	0.0535	M	0.64260	1.97	0.80722	D	1	P;P	0.48162	0.906;0.652	P;P	0.55749	0.783;0.638	T	0.00222	-1.1904	10	0.87932	D	0	.	15.5449	0.76090	1.0:0.0:0.0:0.0	.	442;442	A6H8K8;Q16099	.;GRIK4_HUMAN	G	442	ENSP00000435648:D442G;ENSP00000404063:D442G	ENSP00000404063:D442G	D	+	2	0	GRIK4	120281261	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.070000	0.61991	0.533000	0.62120	GAC		0.537	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		72	92	0	0	0	1	0	72	92				
TECTA	7007	broad.mit.edu	37	11	121008284	121008284	+	Silent	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr11:121008284G>A	ENST00000392793.1	+	11	3367	c.3096G>A	c.(3094-3096)acG>acA	p.T1032T	TECTA_ENST00000264037.2_Silent_p.T1032T			O75443	TECTA_HUMAN	tectorin alpha	1032	TIL 2.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AGTGTGTCACGCGGAGTGAGT	0.577																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(3094-3096)acG>acA		tectorin alpha							123.0	98.0	107.0					11																	121008284		2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121008284G>A	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.3096G>A	11.37:g.121008284G>A						TECTA_ENST00000264037.2_Silent_p.T1032T	p.T1032T			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	11	3367	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1032			TIL 2.			Silent	SNP	ENST00000392793.1	37	c.3096G>A	CCDS8434.1																																																																																				0.577	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		21	28	0	0	0	1	0	21	28				
LRP1	4035	broad.mit.edu	37	12	57588203	57588203	+	Missense_Mutation	SNP	G	G	T	rs146710883	byFrequency	TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr12:57588203G>T	ENST00000243077.3	+	49	8451	c.7985G>T	c.(7984-7986)cGg>cTg	p.R2662L	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2662	LDL-receptor class A 14. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCCTGCGAGCGGACCTCACTC	0.662																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(7984-7986)cGg>cTg		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						86.0	82.0	84.0					12																	57588203		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57588203G>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.7985G>T	12.37:g.57588203G>T	ENSP00000243077:p.Arg2662Leu						p.R2662L	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	49	8451	+			2662			LDL-receptor class A 14.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.7985G>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	7.583	0.669081	0.14776	.	.	ENSG00000123384	ENST00000243077	D	0.95377	-3.69	4.91	2.13	0.27403	.	0.425788	0.22152	N	0.063915	D	0.87253	0.6131	N	0.11201	0.11	0.80722	D	1	B	0.24258	0.1	B	0.26969	0.075	T	0.76761	-0.2840	10	0.22109	T	0.4	.	7.9064	0.29765	0.3433:0.0:0.6567:0.0	.	2662	Q07954	LRP1_HUMAN	L	2662	ENSP00000243077:R2662L	ENSP00000243077:R2662L	R	+	2	0	LRP1	55874470	0.984000	0.35163	0.971000	0.41717	0.539000	0.34962	1.454000	0.35178	0.283000	0.22279	0.462000	0.41574	CGG		0.662	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		48	52	1	0	1.56793e-16	1	1.73161e-16	48	52				
CCDC173	129881	broad.mit.edu	37	2	170510628	170510628	+	Missense_Mutation	SNP	G	G	A	rs530807316	byFrequency	TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr2:170510628G>A	ENST00000447353.1	-	6	1021	c.916C>T	c.(916-918)Cgt>Tgt	p.R306C		NM_001085447.1	NP_001078916.1	Q0VFZ6	CC173_HUMAN	coiled-coil domain containing 173	306																	TGTATAAGACGCTTTTTTGCT	0.323													G|||	2	0.000399361	0.0	0.0	5008	,	,		19105	0.0		0.0	False		,,,				2504	0.002					ENST00000447353.1																			0											c.(916-918)Cgt>Tgt		coiled-coil domain containing 173							133.0	115.0	121.0					2																	170510628		1812	4088	5900	SO:0001583	missense	129881							g.chr2:170510628G>A	BC015980, BC117445	CCDS46445.1	2q31.1	2012-08-07	2012-08-07	2012-08-07	ENSG00000154479	ENSG00000154479			25064	protein-coding gene	gene with protein product	"""hypothetical LOC129881"""		"""chromosome 2 open reading frame 77"""	C2orf77		12477932	Standard	NM_001085447		Approved	LOC129881	uc002ufe.2	Q0VFZ6	OTTHUMG00000154116	ENST00000447353.1:c.916C>T	2.37:g.170510628G>A	ENSP00000391504:p.Arg306Cys						p.R306C	NM_001085447.1	NP_001078916.1					6	1021	-								Q6PJF6	Missense_Mutation	SNP	ENST00000447353.1	37	c.916C>T	CCDS46445.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.395414	0.25205	.	.	ENSG00000154479	ENST00000447353	T	0.10860	2.83	5.04	0.98	0.19750	.	3.818340	0.00166	N	0.000001	T	0.14098	0.0341	M	0.65975	2.015	0.34632	D	0.719686	B	0.02656	0.0	B	0.01281	0.0	T	0.39761	-0.9598	10	0.51188	T	0.08	.	3.0791	0.06256	0.1773:0.1371:0.545:0.1406	.	306	Q0VFZ6	CB077_HUMAN	C	306	ENSP00000391504:R306C	ENSP00000391504:R306C	R	-	1	0	C2orf77	170218874	0.751000	0.28327	1.000000	0.80357	0.979000	0.70002	0.138000	0.16016	0.632000	0.30432	-0.961000	0.02630	CGT		0.323	CCDC173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333954.2	NM_001085447		5	5	0	0	0	1	0	5	5				
PTPRB	5787	broad.mit.edu	37	12	70954686	70954686	+	Silent	SNP	C	C	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr12:70954686C>A	ENST00000261266.5	-	15	3572	c.3543G>T	c.(3541-3543)ggG>ggT	p.G1181G	PTPRB_ENST00000334414.6_Silent_p.G1399G|PTPRB_ENST00000538708.1_Silent_p.G1091G|PTPRB_ENST00000550358.1_Silent_p.G1311G|PTPRB_ENST00000550857.1_Silent_p.G1091G|PTPRB_ENST00000551525.1_Silent_p.G1398G|PTPRB_ENST00000451516.2_Silent_p.G1091G	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1181	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TCCGATTGGACCCCCTGAGAT	0.458																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(4195-4197)ggG>ggT		protein tyrosine phosphatase, receptor type, B							115.0	104.0	107.0					12																	70954686		1871	4099	5970	SO:0001819	synonymous_variant	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70954686C>A	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.3543G>T	12.37:g.70954686C>A						PTPRB_ENST00000551525.1_Silent_p.G1398G|PTPRB_ENST00000538708.1_Silent_p.G1091G|PTPRB_ENST00000451516.2_Silent_p.G1091G|PTPRB_ENST00000550857.1_Silent_p.G1091G|PTPRB_ENST00000550358.1_Silent_p.G1311G|PTPRB_ENST00000261266.5_Silent_p.G1181G	p.G1399G	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		17	4241	-	Renal(347;0.236)		1181			Fibronectin type-III 16.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000261266.5	37	c.4197G>T	CCDS44944.1																																																																																				0.458	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			7	71	1	0	1	1	1	7	71				
TP53	7157	broad.mit.edu	37	17	7578479	7578479	+	Missense_Mutation	SNP	G	G	A	rs28934874|rs137852790|rs137852791		TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr17:7578479G>A	ENST00000269305.4	-	5	640	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	TP53_ENST00000420246.2_Missense_Mutation_p.P151S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.P151S|TP53_ENST00000445888.2_Missense_Mutation_p.P151S|TP53_ENST00000413465.2_Missense_Mutation_p.P151S|TP53_ENST00000455263.2_Missense_Mutation_p.P151S	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	151	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874). {ECO:0000269|PubMed:7682763}.|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(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)	CCGGGCGGGGGTGTGGAATCA	0.612		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		156	Substitution - Missense(107)|Deletion - Frameshift(23)|Whole gene deletion(8)|Deletion - In frame(7)|Insertion - Frameshift(6)|Unknown(5)	p.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(1)	upper_aerodigestive_tract(20)|large_intestine(17)|ovary(16)|lung(15)|oesophagus(12)|endometrium(11)|stomach(9)|breast(9)|central_nervous_system(7)|liver(7)|skin(7)|haematopoietic_and_lymphoid_tissue(5)|soft_tissue(4)|urinary_tract(4)|prostate(4)|bone(4)|vulva(2)|pancreas(2)|biliary_tract(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	CM012662|CM941326	TP53	M	rs28934874	c.(451-453)Ccc>Tcc	Other conserved DNA damage response genes	tumor protein p53							55.0	55.0	55.0					17																	7578479		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.chr17:7578479G>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.451C>T	17.37:g.7578479G>A	ENSP00000269305:p.Pro151Ser	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_ENST00000413465.2_Missense_Mutation_p.P151S|TP53_ENST00000359597.4_Missense_Mutation_p.P151S|TP53_ENST00000455263.2_Missense_Mutation_p.P151S|TP53_ENST00000445888.2_Missense_Mutation_p.P151S|TP53_ENST00000269305.4_Missense_Mutation_p.P151S	p.P151S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	583	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	151		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.451C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.460739	0.63513	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99881	-7.47;-7.47;-7.47;-7.47;-7.47;-7.47;-7.47;-7.47;-7.47	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110207	0.64402	D	0.000007	D	0.99894	0.9949	M	0.87038	2.855	0.54753	D	0.999985	D;P;P;P;D;P;D	0.89917	0.99;0.941;0.92;0.835;0.98;0.953;1.0	P;P;P;P;P;P;D	0.97110	0.793;0.749;0.814;0.652;0.837;0.837;1.0	D	0.96419	0.9310	10	0.87932	D	0	-14.1156	17.4784	0.87667	0.0:0.0:1.0:0.0	rs28934874	112;151;151;58;151;151;151	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	S	151;151;151;151;151;151;140;58;19;58;19;151	ENSP00000410739:P151S;ENSP00000352610:P151S;ENSP00000269305:P151S;ENSP00000398846:P151S;ENSP00000391127:P151S;ENSP00000391478:P151S;ENSP00000425104:P19S;ENSP00000423862:P58S;ENSP00000424104:P151S	ENSP00000269305:P151S	P	-	1	0	TP53	7519204	1.000000	0.71417	0.971000	0.41717	0.067000	0.16453	7.823000	0.86660	2.804000	0.96469	0.655000	0.94253	CCC		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		35	8	0	0	0	1	0	35	8				
DGKK	139189	broad.mit.edu	37	X	50121103	50121103	+	RNA	SNP	T	T	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chrX:50121103T>A	ENST00000376025.2	-	0	3163							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TTACCCGATCTCTTGTCAGCA	0.473																																						ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa							135.0	126.0	129.0					X																	50121103		1912	4118	6030			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50121103T>A	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50121103T>A										Q5KSL6	DGKK_HUMAN			0	3163	-	Ovarian(276;0.236)							B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																						0.473	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		21	17	0	0	0	1	0	21	17				
CARHSP1	23589	broad.mit.edu	37	16	8952230	8952230	+	Silent	SNP	G	G	A	rs141833541	byFrequency	TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr16:8952230G>A	ENST00000396593.2	-	3	617	c.258C>T	c.(256-258)ccC>ccT	p.P86P	CARHSP1_ENST00000567626.1_5'Flank|CARHSP1_ENST00000567554.1_Silent_p.P86P|RP11-77H9.2_ENST00000565934.1_RNA|CARHSP1_ENST00000561530.1_Silent_p.P86P|CARHSP1_ENST00000311052.5_Silent_p.P86P|CARHSP1_ENST00000562843.1_Silent_p.P86P	NM_001042476.1|NM_001278260.1|NM_001278261.1|NM_001278262.1|NM_001278263.1|NM_001278264.1|NM_001278265.1|NM_001278266.1|NM_014316.3	NP_001035941.1|NP_001265189.1|NP_001265190.1|NP_001265191.1|NP_001265192.1|NP_001265193.1|NP_001265194.1|NP_001265195.1|NP_055131.2	Q9Y2V2	CHSP1_HUMAN	calcium regulated heat stable protein 1, 24kDa	86	CSD.				intracellular signal transduction (GO:0035556)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|P granule (GO:0043186)	DNA binding (GO:0003677)|mRNA 3'-UTR binding (GO:0003730)|phosphatase binding (GO:0019902)			endometrium(2)|lung(1)	3						GGAAGATGTCGGGGCCGCCAT	0.632													G|||	28	0.00559105	0.0008	0.0029	5008	,	,		17786	0.0		0.0	False		,,,				2504	0.0256					ENST00000396593.2																			0				endometrium(2)|lung(1)	3						c.(256-258)ccC>ccT		calcium regulated heat stable protein 1, 24kDa		G	,	3,4391	6.2+/-15.9	0,3,2194	50.0	54.0	52.0		258,258	-10.5	0.4	16	dbSNP_134	52	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CARHSP1	NM_001042476.1,NM_014316.2	,	0,3,6494	AA,AG,GG		0.0,0.0683,0.0231	,	86/148,86/148	8952230	3,12991	2197	4300	6497	SO:0001819	synonymous_variant	23589				intracellular signal transduction|regulation of mRNA stability|regulation of transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|P granule	DNA binding|mRNA 3'-UTR binding|phosphatase binding	g.chr16:8952230G>A	AF115345	CCDS10537.1	16p13.2	2008-02-05	2002-08-29		ENSG00000153048	ENSG00000153048			17150	protein-coding gene	gene with protein product			"""calcium regulated heat stable protein 1 (24kD)"""			9712905	Standard	NM_014316		Approved	CRHSP-24, CSDC1	uc031quz.1	Q9Y2V2	OTTHUMG00000129695	ENST00000396593.2:c.258C>T	16.37:g.8952230G>A						CARHSP1_ENST00000567554.1_Silent_p.P86P|RP11-77H9.2_ENST00000565934.1_RNA|CARHSP1_ENST00000562843.1_Silent_p.P86P|CARHSP1_ENST00000561530.1_Silent_p.P86P|CARHSP1_ENST00000311052.5_Silent_p.P86P	p.P86P	NM_001042476.1|NM_001278260.1|NM_001278261.1|NM_001278262.1|NM_001278263.1|NM_001278264.1|NM_001278265.1|NM_001278266.1|NM_014316.3	NP_001035941.1|NP_001265189.1|NP_001265190.1|NP_001265191.1|NP_001265192.1|NP_001265193.1|NP_001265194.1|NP_001265195.1|NP_055131.2	Q9Y2V2	CHSP1_HUMAN			3	617	-			86			CSD.		B2R4C3|D3DUF5|Q2YDX5|Q9BQ53	Silent	SNP	ENST00000396593.2	37	c.258C>T	CCDS10537.1																																																																																				0.632	CARHSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251902.1	NM_014316		5	28	0	0	0	1	0	5	28				
PAH	5053	broad.mit.edu	37	12	103248914	103248914	+	Splice_Site	SNP	T	T	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr12:103248914T>A	ENST00000553106.1	-	6	1178	c.706A>T	c.(706-708)Act>Tct	p.T236S	PAH_ENST00000551988.1_5'Flank|PAH_ENST00000307000.2_Splice_Site_p.T231S	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	236					catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	GTGGACTTACTCTGCAGGAAC	0.468																																						ENST00000553106.1																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27						c.e6+1		phenylalanine hydroxylase	Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)						106.0	98.0	101.0					12																	103248914		2203	4300	6503	SO:0001630	splice_region_variant	5053				catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity	g.chr12:103248914T>A	U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"""phenylalanine 4-monooxygenase"""	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.706+1A>T	12.37:g.103248914T>A						PAH_ENST00000307000.2_Splice_Site_p.T231_splice	p.T236_splice	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN			6	1178	-			236					Q16717|Q8TC14	Splice_Site	SNP	ENST00000553106.1	37	c.706_splice	CCDS9092.1	.	.	.	.	.	.	.	.	.	.	T	12.27	1.887704	0.33348	.	.	ENSG00000171759	ENST00000553106;ENST00000307000	D;D	0.99511	-6.05;-6.05	5.17	4.0	0.46444	Aromatic amino acid hydroxylase, C-terminal (3);	0.495980	0.23571	N	0.046749	D	0.95503	0.8539	N	0.01668	-0.77	0.46416	D	0.999037	B	0.02656	0.0	B	0.01281	0.0	D	0.92110	0.5695	10	0.33141	T	0.24	-7.4002	11.2954	0.49276	0.1461:0.0:0.0:0.8539	.	236	P00439	PH4H_HUMAN	S	236;231	ENSP00000448059:T236S;ENSP00000303500:T231S	ENSP00000303500:T231S	T	-	1	0	PAH	101773044	1.000000	0.71417	1.000000	0.80357	0.596000	0.36781	0.811000	0.27198	0.884000	0.36064	-0.451000	0.05528	ACT		0.468	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1		Missense_Mutation	18	37	0	0	0	1	0	18	37				
INO80D	54891	broad.mit.edu	37	2	206869901	206869901	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr2:206869901G>A	ENST00000403263.1	-	11	2679	c.2275C>T	c.(2275-2277)Cca>Tca	p.P759S	Vault_ENST00000516676.1_RNA	NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	759					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						ACGTTGGCTGGGGCAGAGAAC	0.557																																						ENST00000403263.1																			0				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						c.(2275-2277)Cca>Tca		INO80 complex subunit D							57.0	56.0	56.0					2																	206869901		1958	4145	6103	SO:0001583	missense	54891				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:206869901G>A		CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"""INO80 complex subunits"""	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.2275C>T	2.37:g.206869901G>A	ENSP00000384198:p.Pro759Ser						p.P759S	NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN			11	2679	-			759					B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	ENST00000403263.1	37	c.2275C>T	CCDS46500.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.636367	0.29068	.	.	ENSG00000114933	ENST00000403263;ENST00000233270	T	0.34667	1.35	5.91	5.91	0.95273	.	0.057211	0.64402	D	0.000001	T	0.42944	0.1225	N	0.12182	0.205	0.54753	D	0.999985	D	0.89917	1.0	D	0.87578	0.998	T	0.26360	-1.0105	10	0.13853	T	0.58	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	759	Q53TQ3-2	.	S	759	ENSP00000384198:P759S	ENSP00000233270:P759S	P	-	1	0	INO80D	206578146	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.889000	0.69766	2.793000	0.96121	0.655000	0.94253	CCA		0.557	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1	NM_017759		41	51	0	0	0	1	0	41	51				
PVR	5817	broad.mit.edu	37	19	45162189	45162189	+	Intron	SNP	C	C	A	rs35385129	byFrequency	TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr19:45162189C>A	ENST00000425690.3	+	6	1449				PVR_ENST00000403059.4_Intron|PVR_ENST00000406449.4_Missense_Mutation_p.R391S|PVR_ENST00000344956.4_Intron|CTB-171A8.1_ENST00000590796.1_RNA	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor						adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|receptor activity (GO:0004872)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		CCagagctgccgtaattgagc	0.532													C|||	827	0.165136	0.0651	0.0749	5008	,	,		18119	0.3393		0.1481	False		,,,				2504	0.2025					ENST00000406449.4																			0				large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						c.(1171-1173)Cgt>Agt		poliovirus receptor		C	,,SER/ARG,	367,4039	186.0+/-213.0	18,331,1854	73.0	74.0	73.0		,,1171,	1.0	0.0	19	dbSNP_126	73	1382,7218	268.0+/-287.6	118,1146,3036	yes	intron,intron,missense,intron	PVR	NM_001135768.1,NM_001135769.1,NM_001135770.1,NM_006505.3	,,110,	136,1477,4890	AA,AC,CC		16.0698,8.3296,13.4476	,,,	,,391/393,	45162189	1749,11257	2203	4300	6503	SO:0001627	intron_variant	5817				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity	g.chr19:45162189C>A	BC015542	CCDS12640.1, CCDS46105.1, CCDS46106.1, CCDS46107.1	19q13.2	2013-01-29			ENSG00000073008	ENSG00000073008		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9705	protein-coding gene	gene with protein product	"""nectin-like 5"""	173850		PVS		2170108	Standard	XM_005259120		Approved	CD155, HVED, Necl-5, NECL5, Tage4	uc002ozm.3	P15151	OTTHUMG00000151527	ENST00000425690.3:c.1150+21C>A	19.37:g.45162189C>A						PVR_ENST00000425690.3_Intron|PVR_ENST00000403059.4_Intron|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000344956.4_Intron	p.R391S	NM_001135770.1	NP_001129242.1	P15151	PVR_HUMAN		Epithelial(262;0.000601)	6	1171	+	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)	0					B4DTS9|P15152|Q15267|Q15268|Q96BJ1	Missense_Mutation	SNP	ENST00000425690.3	37	c.1171C>A	CCDS12640.1	358	0.16391941391941392	32	0.06504065040650407	25	0.06906077348066299	188	0.32867132867132864	113	0.14907651715039577	C	3.809	-0.040136	0.07497	0.083296	0.160698	ENSG00000073008	ENST00000406449	D	0.87412	-2.25	2.11	0.956	0.19608	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.22146	0.065	B	0.17722	0.019	T	0.03630	-1.1018	6	.	.	.	.	6.1885	0.20510	0.0:0.6791:0.3209:0.0	rs35385129	391	P15151-4	.	S	391	ENSP00000383907:R391S	.	R	+	1	0	PVR	49854029	0.001000	0.12720	0.000000	0.03702	0.205000	0.24178	0.662000	0.25038	0.397000	0.25310	0.555000	0.69702	CGT		0.532	PVR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323017.2	NM_006505		27	68	1	0	5.61819e-17	1	6.23898e-17	27	68				
STK32B	55351	broad.mit.edu	37	4	5170173	5170173	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr4:5170173C>A	ENST00000282908.5	+	3	678	c.256C>A	c.(256-258)Ctg>Atg	p.L86M	STK32B_ENST00000510398.1_Missense_Mutation_p.L39M|STK32B_ENST00000512636.1_Missense_Mutation_p.L39M	NM_018401.1	NP_060871.1			serine/threonine kinase 32B											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						CCTGGTCAATCTGTGGTGAGT	0.552																																						ENST00000282908.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						c.(256-258)Ctg>Atg		serine/threonine kinase 32B							68.0	63.0	64.0					4																	5170173		2203	4300	6503	SO:0001583	missense	55351						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr4:5170173C>A	AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.256C>A	4.37:g.5170173C>A	ENSP00000282908:p.Leu86Met					STK32B_ENST00000510398.1_Missense_Mutation_p.L39M|STK32B_ENST00000512636.1_Missense_Mutation_p.L39M	p.L86M	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN			3	678	+			86			Protein kinase.			Missense_Mutation	SNP	ENST00000282908.5	37	c.256C>A	CCDS3380.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.648816	0.47362	.	.	ENSG00000152953	ENST00000282908;ENST00000512636;ENST00000510398	T;T;T	0.34472	1.36;1.36;1.36	5.03	3.0	0.34707	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.33938	U	0.004409	T	0.50701	0.1631	L	0.56280	1.765	0.54753	D	0.999982	D	0.89917	1.0	D	0.79784	0.993	T	0.51694	-0.8673	10	0.87932	D	0	.	9.6122	0.39670	0.0:0.7727:0.0:0.2273	.	86	Q9NY57	ST32B_HUMAN	M	86;39;39	ENSP00000282908:L86M;ENSP00000423209:L39M;ENSP00000420984:L39M	ENSP00000282908:L86M	L	+	1	2	STK32B	5221074	0.234000	0.23783	0.943000	0.38184	0.643000	0.38383	0.714000	0.25808	1.120000	0.41904	-0.136000	0.14681	CTG		0.552	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206854.4	NM_018401		5	10	1	0	0.014758	1	0.0149816	5	10				
MYO3A	53904	broad.mit.edu	37	10	26500926	26500926	+	3'UTR	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr10:26500926C>T	ENST00000265944.5	+	0	5051				MYO3A_ENST00000543632.1_Missense_Mutation_p.A644V	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA						ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CGTCGGAAGGCGCTGGAGCCT	0.687																																						ENST00000543632.1																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(1930-1932)gCg>gTg		myosin IIIA							17.0	20.0	19.0					10																	26500926		2199	4298	6497	SO:0001624	3_prime_UTR_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26500926C>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.*34C>T	10.37:g.26500926C>T						MYO3A_ENST00000265944.5_3'UTR	p.A644V			Q8NEV4	MYO3A_HUMAN			17	1991	+			0			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.1931C>T	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.315292	0.23908	.	.	ENSG00000095777	ENST00000543632	T	0.75367	-0.93	3.84	-3.59	0.04583	.	.	.	.	.	T	0.55210	0.1906	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45760	-0.9239	8	0.87932	D	0	.	1.0666	0.01612	0.16:0.3573:0.1598:0.3229	.	644	F5H0U9	.	V	644	ENSP00000445909:A644V	ENSP00000445909:A644V	A	+	2	0	MYO3A	26540932	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.319000	0.08039	-0.661000	0.05345	0.305000	0.20034	GCG		0.687	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		3	13	0	0	0	1	0	3	13				
DIP2A	23181	broad.mit.edu	37	21	47971553	47971553	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr21:47971553G>T	ENST00000417564.2	+	24	2867	c.2846G>T	c.(2845-2847)gGa>gTa	p.G949V	DIP2A_ENST00000427143.2_Missense_Mutation_p.G885V|DIP2A_ENST00000318711.7_Missense_Mutation_p.G950V|DIP2A_ENST00000400274.1_Missense_Mutation_p.G945V			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	949					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CTAGAGGTTGGACCAGCCTCA	0.478																																						ENST00000318711.7																			0				cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2848-2850)gGa>gTa		DIP2 disco-interacting protein 2 homolog A (Drosophila)							31.0	32.0	32.0					21																	47971553		1946	4162	6108	SO:0001583	missense	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47971553G>T	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.2846G>T	21.37:g.47971553G>T	ENSP00000392066:p.Gly949Val					DIP2A_ENST00000417564.2_Missense_Mutation_p.G949V|DIP2A_ENST00000427143.2_Missense_Mutation_p.G885V|DIP2A_ENST00000400274.1_Missense_Mutation_p.G945V	p.G950V	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	24	3032	+	Breast(49;0.0933)		949					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	c.2849G>T	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984655	0.74474	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000417564	T;T;T;T	0.28454	1.64;1.61;1.63;1.63	5.34	4.45	0.53987	.	0.067791	0.64402	D	0.000019	T	0.56630	0.1998	M	0.82823	2.61	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.999	D;D;D	0.97110	1.0;0.932;0.995	T	0.58387	-0.7645	10	0.41790	T	0.15	-16.3321	13.3849	0.60791	0.0771:0.0:0.9229:0.0	.	950;885;949	E9PER1;E7EMA5;Q14689	.;.;DIP2A_HUMAN	V	945;885;950;949	ENSP00000383133:G945V;ENSP00000400528:G885V;ENSP00000323633:G950V;ENSP00000392066:G949V	ENSP00000323633:G950V	G	+	2	0	DIP2A	46795981	1.000000	0.71417	0.746000	0.31095	0.960000	0.62799	6.480000	0.73604	2.489000	0.83994	0.655000	0.94253	GGA		0.478	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		13	4	1	0	2.27111e-07	1	2.35306e-07	13	4				
MGA	23269	broad.mit.edu	37	15	41961254	41961254	+	Silent	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr15:41961254G>A	ENST00000570161.1	+	1	162	c.162G>A	c.(160-162)gtG>gtA	p.V54V	MGA_ENST00000545763.1_Silent_p.V54V|MGA_ENST00000219905.7_Silent_p.V54V|MGA_ENST00000568630.1_Intron|MGA_ENST00000389936.4_Silent_p.V54V|MGA_ENST00000566586.1_Silent_p.V54V			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTAGTAGTGTGTCATCACCAG	0.418																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(160-162)gtG>gtA		MGA, MAX dimerization protein							143.0	144.0	143.0					15																	41961254		1923	4140	6063	SO:0001819	synonymous_variant	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:41961254G>A	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.162G>A	15.37:g.41961254G>A						MGA_ENST00000570161.1_Silent_p.V54V|MGA_ENST00000389936.4_Silent_p.V54V|MGA_ENST00000568630.1_Intron|MGA_ENST00000566586.1_Silent_p.V54V|MGA_ENST00000545763.1_Silent_p.V54V	p.V54V	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	2	343	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	54					Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000570161.1	37	c.162G>A	CCDS55959.1																																																																																				0.418	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		6	111	0	0	0	1	0	6	111				
PRSS37	136242	broad.mit.edu	37	7	141537030	141537030	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr7:141537030C>T	ENST00000350549.3	-	4	820	c.449G>A	c.(448-450)cGg>cAg	p.R150Q	PRSS37_ENST00000438520.1_Missense_Mutation_p.R150Q	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37	150	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				binding of sperm to zona pellucida (GO:0007339)|cell migration (GO:0016477)|protein maturation (GO:0051604)	extracellular region (GO:0005576)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						CAGGTTCTGCCGCAAGTCAGG	0.458																																						ENST00000350549.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						c.(448-450)cGg>cAg		protease, serine, 37							88.0	91.0	90.0					7																	141537030		2203	4300	6503	SO:0001583	missense	136242				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141537030C>T		CCDS34764.1	7q34	2010-05-07			ENSG00000165076	ENSG00000165076		"""Serine peptidases / Serine peptidases"""	29211	protein-coding gene	gene with protein product							Standard	NM_001008270		Approved		uc003vws.2	A4D1T9	OTTHUMG00000157174	ENST00000350549.3:c.449G>A	7.37:g.141537030C>T	ENSP00000297767:p.Arg150Gln					PRSS37_ENST00000438520.1_Missense_Mutation_p.R150Q	p.R150Q	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN			4	820	-			150			Peptidase S1.		B2RPB5	Missense_Mutation	SNP	ENST00000350549.3	37	c.449G>A	CCDS34764.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.197099	0.58126	.	.	ENSG00000165076	ENST00000350549;ENST00000438520	D;D	0.88664	-2.41;-2.41	5.65	5.65	0.86999	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	D	0.000015	D	0.82806	0.5117	N	0.25144	0.715	0.32953	D	0.520055	B;B	0.15930	0.015;0.007	B;B	0.15484	0.013;0.013	T	0.83056	-0.0150	10	0.87932	D	0	.	15.093	0.72211	0.0:1.0:0.0:0.0	.	149;150	B7ZMK3;A4D1T9	.;PRS37_HUMAN	Q	150	ENSP00000297767:R150Q;ENSP00000414461:R150Q	ENSP00000297767:R150Q	R	-	2	0	PRSS37	141183499	0.982000	0.34865	0.969000	0.41365	0.987000	0.75469	2.328000	0.43867	2.941000	0.99782	0.655000	0.94253	CGG		0.458	PRSS37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347763.1	NM_001008270		32	32	0	0	0	1	0	32	32				
CENPF	1063	broad.mit.edu	37	1	214825109	214825109	+	Silent	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr1:214825109C>T	ENST00000366955.3	+	15	8208	c.8040C>T	c.(8038-8040)tgC>tgT	p.C2680C	CENPF_ENST00000467765.1_3'UTR	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2776	Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GCCTAGATTGCATGCACAAAG	0.388																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(8038-8040)tgC>tgT		centromere protein F, 350/400kDa							92.0	95.0	94.0					1																	214825109		2203	4300	6503	SO:0001819	synonymous_variant	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214825109C>T	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.8040C>T	1.37:g.214825109C>T						CENPF_ENST00000467765.1_3'UTR	p.C2680C	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	15	8208	+			2776			Sufficient for centromere localization.|Sufficient for self-association.		Q13171|Q13246|Q5VVM7	Silent	SNP	ENST00000366955.3	37	c.8040C>T	CCDS31023.1																																																																																				0.388	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		16	43	0	0	0	1	0	16	43				
XPO1	7514	broad.mit.edu	37	2	61719576	61719576	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr2:61719576T>G	ENST00000401558.2	-	15	2334	c.1607A>C	c.(1606-1608)aAt>aCt	p.N536T	XPO1_ENST00000406957.1_Missense_Mutation_p.N536T|XPO1_ENST00000404992.2_Missense_Mutation_p.N536T	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	536	Necessary for HTLV-1 Rex-mediated mRNA export.				gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			AATAGCTTTATTATCTTTGCC	0.299			Mis		CLL																																	ENST00000401558.2			-'	Dom	yes		2	2p15	7514	Mis	"""exportin 1 (CRM1 homolog, yeast)"""			L			CLL		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(1606-1608)aAt>aCt		exportin 1 (CRM1 homolog, yeast)							75.0	62.0	66.0					2																	61719576		2202	4299	6501	SO:0001583	missense	7514				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding	g.chr2:61719576T>G	Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"""Exportins"""	12825	protein-coding gene	gene with protein product	"""chromosome region maintenance 1 homolog (yeast)"""	602559	"""exportin 1 (CRM1, yeast, homolog)"", ""exportin 1 (CRM1 homolog, yeast)"""			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.1607A>C	2.37:g.61719576T>G	ENSP00000384863:p.Asn536Thr					XPO1_ENST00000406957.1_Missense_Mutation_p.N536T|XPO1_ENST00000404992.2_Missense_Mutation_p.N536T	p.N536T	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)		15	2334	-			536			Necessary for HTLV-1 Rex-mediated mRNA export.		A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	ENST00000401558.2	37	c.1607A>C	CCDS33205.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.721426	0.89298	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	T;T;T	0.66638	-0.22;-0.22;-0.22	5.87	5.87	0.94306	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85039	0.5606	M	0.90019	3.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.86762	0.1967	10	0.48119	T	0.1	-23.8223	16.5764	0.84681	0.0:0.0:0.0:1.0	.	183;536	B3KWD0;O14980	.;XPO1_HUMAN	T	536	ENSP00000384863:N536T;ENSP00000385942:N536T;ENSP00000385559:N536T	ENSP00000384863:N536T	N	-	2	0	XPO1	61573080	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.941000	0.87700	2.371000	0.80710	0.533000	0.62120	AAT		0.299	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325872.3	NM_003400		18	33	0	0	0	1	0	18	33				
OR2T35	403244	broad.mit.edu	37	1	248801602	248801603	+	Frame_Shift_Ins	INS	-	-	CA	rs370874670|rs375058001		TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr1:248801602_248801603insCA	ENST00000317450.3	-	1	956_957	c.957_958insTG	c.(955-960)gtgatcfs	p.I320fs		NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T, member 35	320						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I320fs*1(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCCTTCCTGATCACAGTCGCCA	0.545																																						ENST00000317450.3																			1	Insertion - Frameshift(1)	p.I320fs*1(1)	prostate(1)	endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6						c.(955-960)gttcagfs		olfactory receptor, family 2, subfamily T, member 35																																				SO:0001589	frameshift_variant	403244				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248801602_248801603insCA	BK004475	CCDS31123.1	1q44	2012-08-09			ENSG00000177151	ENSG00000177151		"""GPCR / Class A : Olfactory receptors"""	31257	protein-coding gene	gene with protein product							Standard	NM_001001827		Approved		uc001ies.1	Q8NGX2	OTTHUMG00000040380	ENST00000317450.3:c.956_957dupTG	1.37:g.248801605_248801606dupCA	ENSP00000324369:p.Ile320fs						p.Q320fs	NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	956_957	-	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	320					Q6IEY7	Frame_Shift_Ins	INS	ENST00000317450.3	37	c.957_958insTG	CCDS31123.1																																																																																				0.545	OR2T35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097130.1	NM_001001827		5	4						5	4	---	---	---	---
SDHAP1	255812	broad.mit.edu	37	3	195711568	195711568	+	RNA	DEL	T	T	-			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr3:195711568delT	ENST00000427841.1	-	0	379					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		CCACCTCCAGTTGTCCTCCTC	0.572																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			255812							g.chr3:195711568delT	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195711568delT								NR_003264.2						0	379	-									RNA	DEL	ENST00000427841.1	37																																																																																						0.572	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			7	83						7	83	---	---	---	---
ICK	22858	broad.mit.edu	37	6	52883129	52883129	+	Splice_Site	DEL	T	T	-			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr6:52883129delT	ENST00000350082.5	-	7	1008	c.662delA	c.(661-663)aag>ag	p.K221fs	ICK_ENST00000356971.3_Splice_Site_p.K221fs	NM_014920.3	NP_055735.1	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	221	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				intracellular signal transduction (GO:0035556)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TATCATTACCTTTTTTGGTGT	0.502																																						ENST00000356971.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31						c.e8+1		intestinal cell (MAK-like) kinase							184.0	185.0	184.0					6																	52883129		2203	4300	6503	SO:0001630	splice_region_variant	22858				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding	g.chr6:52883129delT	AB023153	CCDS4949.1	6p12.3-p11.2	2008-02-05			ENSG00000112144	ENSG00000112144			21219	protein-coding gene	gene with protein product		612325				12103360	Standard	NM_014920		Approved	MRK, LCK2, KIAA0936, MGC46090	uc003pbi.2	Q9UPZ9	OTTHUMG00000014870	ENST00000350082.5:c.663+1A>-	6.37:g.52883129delT						ICK_ENST00000350082.5_Splice_Site_p.K221_splice	p.K221_splice	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN			8	1151	-	Lung NSC(77;0.103)		221			Protein kinase.		A7MD41|O75985|Q5THL2|Q8IYH8|Q9BX17|Q9NYX3	Splice_Site	DEL	ENST00000350082.5	37	c.663_splice	CCDS4949.1																																																																																				0.502	ICK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040952.1	NM_016513	Frame_Shift_Del	10	524						10	524	---	---	---	---
TLE1	7088	broad.mit.edu	37	9	84202720	84202720	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr9:84202720delC	ENST00000376499.3	-	17	2917	c.1853delG	c.(1852-1854)ggafs	p.G618fs		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	618					multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						ACAGCTGGCTCCGTCTGTGTG	0.502																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	ENST00000376499.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						c.(1852-1854)gafs		transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)							80.0	78.0	79.0					9																	84202720		2203	4300	6503	SO:0001589	frameshift_variant	7088				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	g.chr9:84202720delC		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"""WD repeat domain containing"""	11837	protein-coding gene	gene with protein product	"""enhancer of split groucho 1"""	600189	"""transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"""			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.1853delG	9.37:g.84202720delC	ENSP00000365682:p.Gly618fs						p.G618fs	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN			17	2917	-			618					A8K495|Q5T3G4|Q969V9	Frame_Shift_Del	DEL	ENST00000376499.3	37	c.1853delG	CCDS6661.1																																																																																				0.502	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077		22	42						22	42	---	---	---	---
ABL1	25	broad.mit.edu	37	9	133759490	133759492	+	In_Frame_Del	DEL	AAG	AAG	-	rs201725154		TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr9:133759490_133759492delAAG	ENST00000318560.5	+	11	2194_2196	c.1813_1815delAAG	c.(1813-1815)aagdel	p.K609del		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	609	Poly-Lys.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	CGCCTTGATCAAGAAGAAGAAGA	0.616			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	ENST00000318560.5				Dom	yes		9	9q34.1	25	"""T, Mis"""	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"""BCR, ETV6, NUP214"""		"""CML, ALL, T-ALL"""		0				breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(1813-1815)del		c-abl oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)																																			SO:0001651	inframe_deletion	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133759490_133759492delAAG	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1813_1815delAAG	9.37:g.133759499_133759501delAAG	ENSP00000323315:p.Lys609del						p.K609del	NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	11	2194_2196	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	609			Poly-Lys.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	In_Frame_Del	DEL	ENST00000318560.5	37	c.1813_1815delAAG	CCDS35166.1																																																																																				0.616	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		7	168						7	168	---	---	---	---
NOC3L	64318	broad.mit.edu	37	10	96097619	96097620	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr10:96097619_96097620insA	ENST00000371361.3	-	19	2203_2204	c.2103_2104insT	c.(2101-2106)catcccfs	p.P702fs	NOC3L_ENST00000543788.1_Frame_Shift_Ins_p.P440fs|NOC3L_ENST00000371350.1_Frame_Shift_Ins_p.P702fs	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	702					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				TGCACTATGGGATGATAATGCC	0.431																																						ENST00000371361.3																			0				endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29						c.(2101-2106)caccatfs		nucleolar complex associated 3 homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	64318					nuclear speck|nucleolus	binding	g.chr10:96097619_96097620insA	AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"""chromosome 10 open reading frame 117"""	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.2104dupT	10.37:g.96097620_96097620dupA	ENSP00000360412:p.Pro702fs					NOC3L_ENST00000371350.1_Frame_Shift_Ins_p.H702fs|NOC3L_ENST00000543788.1_Frame_Shift_Ins_p.H440fs	p.H702fs	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN			19	2203_2204	-		Colorectal(252;0.0897)	702					Q9H5M6|Q9H9D8	Frame_Shift_Ins	INS	ENST00000371361.3	37	c.2103_2104insT	CCDS7433.1																																																																																				0.431	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	NM_022451		11	41						11	41	---	---	---	---
UHRF1BP1L	23074	broad.mit.edu	37	12	100441863	100441865	+	In_Frame_Del	DEL	AAT	AAT	-			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr12:100441863_100441865delAAT	ENST00000279907.7	-	18	4040_4042	c.3828_3830delATT	c.(3826-3831)ggattt>ggt	p.F1277del	UHRF1BP1L_ENST00000545232.2_In_Frame_Del_p.F927del	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1277										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GCACTGCAGAAATCCATTTTTTT	0.365																																						ENST00000279907.7																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						c.(3826-3831)ggt>gg		UHRF1 binding protein 1-like																																				SO:0001651	inframe_deletion	23074							g.chr12:100441863_100441865delAAT		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.3828_3830delATT	12.37:g.100441863_100441865delAAT	ENSP00000279907:p.Phe1277del					UHRF1BP1L_ENST00000545232.2_In_Frame_Del_p.GF926del	p.GF1276del	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN			18	4040_4042	-			1276					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	In_Frame_Del	DEL	ENST00000279907.7	37	c.3828_3830delATT	CCDS31882.1																																																																																				0.365	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		16	29						16	29	---	---	---	---
HERC2P2	400322	broad.mit.edu	37	15	23331163	23331163	+	RNA	DEL	A	A	-			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr15:23331163delA	ENST00000560464.1	-	0	908									hect domain and RLD 2 pseudogene 2																		AATAAATACTAAAAAAAAAAA	0.368																																						ENST00000560464.1																			0																																																			400322							g.chr15:23331163delA	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23331163delA														0	908	-									RNA	DEL	ENST00000560464.1	37																																																																																						0.368	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			2	4						2	4	---	---	---	---
NPAP1	23742	broad.mit.edu	37	15	24921938	24921938	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr15:24921938delC	ENST00000329468.2	+	1	1398	c.924delC	c.(922-924)ttcfs	p.F308fs		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	308	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.F308L(1)									AGAAGCCTTTCTGTATTCCTC	0.582																																						ENST00000329468.2																			1	Substitution - Missense(1)	p.F308L(1)	large_intestine(1)								c.(922-924)ttfs		nuclear pore associated protein 1							51.0	51.0	51.0					15																	24921938		2203	4300	6503	SO:0001589	frameshift_variant	23742							g.chr15:24921938delC	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.924delC	15.37:g.24921938delC	ENSP00000333735:p.Phe308fs						p.F308fs	NM_018958.2	NP_061831.2					1	1398	+									Frame_Shift_Del	DEL	ENST00000329468.2	37	c.924delC	CCDS10015.1																																																																																				0.582	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		12	64						12	64	---	---	---	---
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs398100042|rs2981599		TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr16:3119304_3119305insG	ENST00000534507.1	+	6	864_865	c.653_654insG	c.(652-657)gacaagfs	p.DK218fs	IL32_ENST00000552936.1_Frame_Shift_Ins_p.DK196fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.DK209fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.DK162fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.DK132fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000525643.2_Frame_Shift_Ins_p.DK172fs|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000325568.5_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.DK152fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574																																						ENST00000525643.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						c.(514-516)gaafs		interleukin 32																																				SO:0001589	frameshift_variant	9235				cell adhesion|defense response|immune response	extracellular space	cytokine activity	g.chr16:3119304_3119305insG	M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"""Interleukins and interleukin receptors"""	16830	protein-coding gene	gene with protein product	"""natural killer cell transcript 4"""	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	Exception_encountered	16.37:g.3119304_3119305insG	ENSP00000431775:p.Asp218fs					IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs	p.E172fs			P24001	IL32_HUMAN			7	847_848	+			218					A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Frame_Shift_Ins	INS	ENST00000534507.1	37	c.515_516insG																																																																																					0.574	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221		7	200						7	200	---	---	---	---
KIAA0753	9851	broad.mit.edu	37	17	6493123	6493139	+	Frame_Shift_Del	DEL	AAGGAGCCTACAGCCTC	AAGGAGCCTACAGCCTC	-	rs550842668		TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr17:6493123_6493139delAAGGAGCCTACAGCCTC	ENST00000361413.3	-	18	3104_3120	c.2746_2762delGAGGCTGTAGGCTCCTT	c.(2746-2763)gaggctgtaggctccttcfs	p.EAVGSF916fs	KIAA0753_ENST00000542606.1_Frame_Shift_Del_p.EAVGSF617fs|KIAA0753_ENST00000589033.1_Frame_Shift_Del_p.EAVGSF372fs|KIAA0753_ENST00000575027.1_5'UTR|KIAA0753_ENST00000572370.1_Frame_Shift_Del_p.EAVGSF617fs	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	916						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		CCACGGGTTGAAGGAGCCTACAGCCTCATGAGATATG	0.47																																						ENST00000361413.3																			0				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24						c.(2746-2763)cfs		KIAA0753																																				SO:0001589	frameshift_variant	9851					centrosome		g.chr17:6493123_6493139delAAGGAGCCTACAGCCTC		CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.2746_2762delGAGGCTGTAGGCTCCTT	17.37:g.6493123_6493139delAAGGAGCCTACAGCCTC	ENSP00000355250:p.Glu916fs					KIAA0753_ENST00000542606.1_Frame_Shift_Del_p.EAVGSF617fs|KIAA0753_ENST00000589033.1_Frame_Shift_Del_p.EAVGSF372fs|KIAA0753_ENST00000575027.1_5'UTR|KIAA0753_ENST00000572370.1_Frame_Shift_Del_p.EAVGSF617fs	p.EAVGSF916fs	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN		COAD - Colon adenocarcinoma(228;0.157)	18	3104_3120	-			916					A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Frame_Shift_Del	DEL	ENST00000361413.3	37	c.2746_2762delGAGGCTGTAGGCTCCTT	CCDS42247.1																																																																																				0.470	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804		14	66						14	66	---	---	---	---
