#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_ACHILLES_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
GRIK3	2899	broad.mit.edu	37	1	37346266	37346266	+	Silent	SNP	C	C	G	rs201594652		TCGA-78-7163-01A-12D-2063-08	TCGA-78-7163-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1cdd6a30-03ce-4c46-86ab-8042ef4265b6	3f063fbc-81bd-4954-8c0e-6c03287f17af	g.chr1:37346266C>G	ENST00000373091.3	-	3	535	c.519G>C	c.(517-519)cgG>cgC	p.R173R	GRIK3_ENST00000373093.4_Silent_p.R173R	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	173					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CGGTGGCTGACCGCCACTTGA	0.622																																							uc001caz.2		NA																	0				ovary(3)|skin(2)|large_intestine(1)|breast(1)	7						c.(517-519)CGG>CGC		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						288.0	266.0	273.0					1																	37346266		2203	4300	6503	SO:0001819	synonymous_variant	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37346266C>G	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.519G>C	1.37:g.37346266C>G						GRIK3_uc001cba.1_Silent_p.R173R	p.R173R	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			3	654	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	173			Extracellular (Potential).		A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	ENST00000373091.3	37	c.519G>C	CCDS416.1																																																																																				0.622	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		69	210	0	0	0	0.01441	0	69	210				
PDE4DIP	9659	broad.mit.edu	37	1	144879561	144879561	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7163-01A-12D-2063-08	TCGA-78-7163-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1cdd6a30-03ce-4c46-86ab-8042ef4265b6	3f063fbc-81bd-4954-8c0e-6c03287f17af	g.chr1:144879561A>G	ENST00000369354.3	-	27	4078	c.3889T>C	c.(3889-3891)Tgt>Cgt	p.C1297R	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.C1253R|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.C1297R|AL138796.1_ENST00000582173.1_RNA|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.C1433R|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.C1433R|RP4-791M13.5_ENST00000531288.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1297					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.C1297R(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGCTCCTCACACTCTGAAAAA	0.502			T	PDGFRB	MPD																																		uc001elw.3		NA		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		2	Substitution - Missense(2)		lung(2)	ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(3889-3891)TGT>CGT		phosphodiesterase 4D interacting protein isoform							46.0	49.0	48.0					1																	144879561		2203	4290	6493	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144879561A>G	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.3889T>C	1.37:g.144879561A>G	ENSP00000358360:p.Cys1297Arg					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.C1253R|PDE4DIP_uc001elv.3_Missense_Mutation_p.C304R	p.C1297R	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	27	4180	-			1297					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.3889T>C	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	A	16.19	3.052829	0.55218	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01665	4.7;4.79;4.79;4.8;4.8	5.79	5.79	0.91817	.	.	.	.	.	T	0.04048	0.0113	L	0.57536	1.79	0.80722	D	1	D;D	0.71674	0.998;0.96	D;B	0.67548	0.952;0.421	T	0.51568	-0.8689	9	0.44086	T	0.13	.	14.0875	0.64968	1.0:0.0:0.0:0.0	.	1253;1297	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	R	1253;1297;1297;1433;1433	ENSP00000327209:C1253R;ENSP00000358360:C1297R;ENSP00000358363:C1297R;ENSP00000435654:C1433R;ENSP00000358366:C1433R	ENSP00000327209:C1253R	C	-	1	0	PDE4DIP	143590918	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	5.716000	0.68437	2.207000	0.71202	0.533000	0.62120	TGT		0.502	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		4	55	0	0	0	0.001168	0	4	55				
TRIM68	55128	broad.mit.edu	37	11	4623587	4623587	+	Missense_Mutation	SNP	C	C	T	rs150937700	byFrequency	TCGA-78-7163-01A-12D-2063-08	TCGA-78-7163-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1cdd6a30-03ce-4c46-86ab-8042ef4265b6	3f063fbc-81bd-4954-8c0e-6c03287f17af	g.chr11:4623587C>T	ENST00000300747.5	-	4	867	c.578G>A	c.(577-579)cGa>cAa	p.R193Q		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	193					protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTCTAGTAATCGCTGGTATTT	0.517													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		20002	0.0		0.0	False		,,,				2504	0.0						uc001lzf.1		NA																	0				ovary(1)	1						c.(577-579)CGA>CAA		ring finger protein 137		C	GLN/ARG	0,4402		0,0,2201	84.0	82.0	83.0		578	3.2	0.0	11	dbSNP_134	83	8,8588	6.4+/-24.3	0,8,4290	yes	missense	TRIM68	NM_018073.5	43	0,8,6491	TT,TC,CC		0.0931,0.0,0.0615	benign	193/486	4623587	8,12990	2201	4298	6499	SO:0001583	missense	55128				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4623587C>T	AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21161	protein-coding gene	gene with protein product		613184	"""ring finger protein 137"", ""tripartite motif-containing 68"""	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.578G>A	11.37:g.4623587C>T	ENSP00000300747:p.Arg193Gln					TRIM68_uc001lzg.1_5'UTR|TRIM68_uc010qyj.1_RNA|TRIM68_uc009yek.1_Missense_Mutation_p.R193Q	p.R193Q	NM_018073	NP_060543	Q6AZZ1	TRI68_HUMAN		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)	4	816	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	193					A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Missense_Mutation	SNP	ENST00000300747.5	37	c.578G>A	CCDS31356.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	6.587	0.476732	0.12521	0.0	9.31E-4	ENSG00000167333	ENST00000300747;ENST00000533021	T;T	0.70869	3.66;-0.52	4.26	3.25	0.37280	.	0.248076	0.21078	N	0.080533	T	0.51278	0.1665	L	0.33093	0.98	0.09310	N	1	B;B	0.18610	0.005;0.029	B;B	0.09377	0.0;0.004	T	0.27054	-1.0085	10	0.10111	T	0.7	.	6.207	0.20608	0.0:0.8089:0.0:0.1911	.	161;193	E9PR29;Q6AZZ1	.;TRI68_HUMAN	Q	193;161	ENSP00000300747:R193Q;ENSP00000436112:R161Q	ENSP00000300747:R193Q	R	-	2	0	TRIM68	4580163	0.004000	0.15560	0.034000	0.17996	0.022000	0.10575	0.116000	0.15561	0.889000	0.36185	0.561000	0.74099	CGA		0.517	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385948.1	NM_018073		10	53	0	0	0	0.006214	0	10	53				
OR51T1	401665	broad.mit.edu	37	11	4903940	4903940	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7163-01A-12D-2063-08	TCGA-78-7163-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1cdd6a30-03ce-4c46-86ab-8042ef4265b6	3f063fbc-81bd-4954-8c0e-6c03287f17af	g.chr11:4903940C>A	ENST00000322049.1	+	1	811	c.811C>A	c.(811-813)Cca>Aca	p.P271T	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000380378.1_Missense_Mutation_p.P298T			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	271						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(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCACTCCACCCCAAGGGTGCT	0.493																																							uc010qyp.1		NA																	0				ovary(2)|large_intestine(1)	3						c.(892-894)CCA>ACA		olfactory receptor, family 51, subfamily T,							114.0	102.0	106.0					11																	4903940		2201	4298	6499	SO:0001583	missense	401665				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4903940C>A	BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"""GPCR / Class A : Olfactory receptors"""	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.811C>A	11.37:g.4903940C>A	ENSP00000322679:p.Pro271Thr						p.P298T	NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	892	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	271			Extracellular (Potential).		Q6IFH9	Missense_Mutation	SNP	ENST00000322049.1	37	c.892C>A		.	.	.	.	.	.	.	.	.	.	C	18.76	3.693173	0.68271	.	.	ENSG00000176900	ENST00000380378;ENST00000322049	T;T	0.70749	-0.51;-0.51	4.97	4.06	0.47325	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43747	D	0.000530	D	0.83166	0.5195	M	0.80847	2.515	0.45914	D	0.998751	D	0.89917	1.0	D	0.80764	0.994	D	0.85336	0.1093	10	0.87932	D	0	.	12.2625	0.54660	0.0:0.917:0.0:0.083	.	271	Q8NGJ9	O51T1_HUMAN	T	298;271	ENSP00000369738:P298T;ENSP00000322679:P271T	ENSP00000322679:P271T	P	+	1	0	OR51T1	4860516	0.000000	0.05858	0.193000	0.23327	0.861000	0.49209	-0.213000	0.09305	1.329000	0.45376	0.491000	0.48974	CCA		0.493	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759		9	136	1	0	2.17888e-05	0.006214	6.59552e-05	9	136				
OR51M1	390059	broad.mit.edu	37	11	5410836	5410836	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7163-01A-12D-2063-08	TCGA-78-7163-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1cdd6a30-03ce-4c46-86ab-8042ef4265b6	3f063fbc-81bd-4954-8c0e-6c03287f17af	g.chr11:5410836C>A	ENST00000328611.3	+	1	230	c.208C>A	c.(208-210)Ccc>Acc	p.P70T	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	70					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)			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTGCACACACCCATGTACTA	0.468																																							uc010qzc.1		NA																	0					0						c.(208-210)CCC>ACC		olfactory receptor, family 51, subfamily M,							155.0	146.0	149.0					11																	5410836		2050	4190	6240	SO:0001583	missense	390059					integral to membrane	olfactory receptor activity	g.chr11:5410836C>A	BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"""GPCR / Class A : Olfactory receptors"""	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.208C>A	11.37:g.5410836C>A	ENSP00000333196:p.Pro70Thr					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.P70T	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	208	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	70					Q6IF80	Missense_Mutation	SNP	ENST00000328611.3	37	c.208C>A	CCDS53596.1	.	.	.	.	.	.	.	.	.	.	C	8.076	0.771317	0.16051	.	.	ENSG00000184698	ENST00000328611	T	0.02032	4.49	4.87	2.98	0.34508	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33895	U	0.004450	T	0.12860	0.0312	H	0.98426	4.23	0.36912	D	0.890943	P	0.52463	0.953	P	0.49361	0.608	T	0.15435	-1.0437	10	0.72032	D	0.01	.	9.1212	0.36788	0.0:0.7702:0.148:0.0818	.	59	Q9H341	O51M1_HUMAN	T	70	ENSP00000333196:P70T	ENSP00000333196:P70T	P	+	1	0	OR51M1	5367412	0.995000	0.38212	0.998000	0.56505	0.012000	0.07955	3.340000	0.52143	0.632000	0.30432	-0.142000	0.14014	CCC		0.468	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	NM_001004756		7	115	1	0	8.12818e-05	0.001984	0.000239568	7	115				
OR2AG1	144125	broad.mit.edu	37	11	6806758	6806758	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7163-01A-12D-2063-08	TCGA-78-7163-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1cdd6a30-03ce-4c46-86ab-8042ef4265b6	3f063fbc-81bd-4954-8c0e-6c03287f17af	g.chr11:6806758A>G	ENST00000307401.4	+	1	511	c.490A>G	c.(490-492)Atg>Gtg	p.M164V		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	164						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CGTGTATACCATGCACTATCC	0.532																																							uc001mer.1		NA																	0				central_nervous_system(1)	1						c.(490-492)ATG>GTG		olfactory receptor, family 2, subfamily AG,							140.0	126.0	131.0					11																	6806758		2201	4296	6497	SO:0001583	missense	144125				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6806758A>G	AB065823	CCDS31414.1	11p15.4	2012-08-09			ENSG00000170803	ENSG00000170803		"""GPCR / Class A : Olfactory receptors"""	15142	protein-coding gene	gene with protein product				OR2AG3			Standard	NM_001004489		Approved		uc001mer.2	Q9H205	OTTHUMG00000165735	ENST00000307401.4:c.490A>G	11.37:g.6806758A>G	ENSP00000307447:p.Met164Val						p.M164V	NM_001004489	NP_001004489	Q9H205	O2AG1_HUMAN		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	490	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)	164			Extracellular (Potential).		B9EKV7|Q6IFG7|Q96R26	Missense_Mutation	SNP	ENST00000307401.4	37	c.490A>G	CCDS31414.1	.	.	.	.	.	.	.	.	.	.	A	13.17	2.156620	0.38119	.	.	ENSG00000170803	ENST00000307401	T	0.00054	8.8	4.09	4.09	0.47781	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000013	T	0.00210	0.0006	L	0.35542	1.07	0.27218	N	0.959739	D	0.55605	0.972	P	0.57620	0.824	T	0.57027	-0.7881	10	0.87932	D	0	.	9.6631	0.39967	1.0:0.0:0.0:0.0	.	164	Q9H205	O2AG1_HUMAN	V	164	ENSP00000307447:M164V	ENSP00000307447:M164V	M	+	1	0	OR2AG1	6763334	0.000000	0.05858	0.982000	0.44146	0.611000	0.37282	-0.467000	0.06664	1.848000	0.53677	0.482000	0.46254	ATG		0.532	OR2AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385980.1	NM_001004489		5	108	0	0	0	0.000602	0	5	108				
GRM5	2915	broad.mit.edu	37	11	88337977	88337977	+	Missense_Mutation	SNP	G	G	A	rs148343362		TCGA-78-7163-01A-12D-2063-08	TCGA-78-7163-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1cdd6a30-03ce-4c46-86ab-8042ef4265b6	3f063fbc-81bd-4954-8c0e-6c03287f17af	g.chr11:88337977G>A	ENST00000305447.4	-	4	1452	c.1303C>T	c.(1303-1305)Cgg>Tgg	p.R435W	GRM5_ENST00000393297.1_Missense_Mutation_p.R435W|GRM5_ENST00000418177.2_Missense_Mutation_p.R435W|GRM5_ENST00000455756.2_Missense_Mutation_p.R435W|GRM5_ENST00000305432.5_Missense_Mutation_p.R435W	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	435					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.R435W(3)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	AAAAGTTTCCGTCCATCAATT	0.483																																							uc001pcq.2		NA																	3	Substitution - Missense(3)		upper_aerodigestive_tract(1)|prostate(1)|pancreas(1)	central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9						c.(1303-1305)CGG>TGG		glutamate receptor, metabotropic 5 isoform a	Acamprosate(DB00659)	G	TRP/ARG,TRP/ARG	0,4402		0,0,2201	75.0	71.0	72.0		1303,1303	3.8	0.8	11	dbSNP_134	72	1,8597		0,1,4298	no	missense,missense	GRM5	NM_000842.3,NM_001143831.2	101,101	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	435/1181,435/1213	88337977	1,12999	2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88337977G>A	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.1303C>T	11.37:g.88337977G>A	ENSP00000306138:p.Arg435Trp					GRM5_uc009yvm.2_Missense_Mutation_p.R435W	p.R435W	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			4	1503	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	435			Extracellular (Potential).		Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.1303C>T	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.683869	0.68157	0.0	1.16E-4	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6	5.77	3.78	0.43462	Extracellular ligand-binding receptor (1);	0.433846	0.26180	N	0.025872	D	0.83418	0.5250	L	0.36672	1.1	0.22842	N	0.998669	D;D	0.71674	0.998;0.998	P;P	0.56865	0.601;0.808	T	0.76035	-0.3106	9	.	.	.	.	14.7277	0.69357	0.0:0.0:0.7368:0.2632	.	435;435	P41594-2;P41594	.;GRM5_HUMAN	W	435	ENSP00000402912:R435W;ENSP00000405690:R435W;ENSP00000305905:R435W;ENSP00000306138:R435W;ENSP00000376975:R435W	.	R	-	1	2	GRM5	87977625	0.000000	0.05858	0.849000	0.33467	0.989000	0.77384	0.379000	0.20585	1.440000	0.47531	0.446000	0.29264	CGG		0.483	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		33	53	0	0	0	0.010818	0	33	53				
CNTN5	53942	broad.mit.edu	37	11	99872788	99872788	+	Silent	SNP	G	G	A	rs200186014		TCGA-78-7163-01A-12D-2063-08	TCGA-78-7163-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1cdd6a30-03ce-4c46-86ab-8042ef4265b6	3f063fbc-81bd-4954-8c0e-6c03287f17af	g.chr11:99872788G>A	ENST00000524871.1	+	9	1190	c.900G>A	c.(898-900)ccG>ccA	p.P300P	CNTN5_ENST00000418526.2_Silent_p.P226P|CNTN5_ENST00000527185.1_Silent_p.P300P|CNTN5_ENST00000279463.3_Silent_p.P300P|CNTN5_ENST00000528682.1_Silent_p.P300P	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	300	Ig-like C2-type 3.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AATATGAGCCGAAAATTGAGG	0.363																																							uc001pga.2		NA																	0				skin(3)|ovary(2)|pancreas(2)|breast(1)	8						c.(898-900)CCG>CCA		contactin 5 isoform long		G	,	0,3686		0,0,1843	95.0	92.0	93.0		900,678	2.7	1.0	11		93	2,8190		0,2,4094	no	coding-synonymous,coding-synonymous	CNTN5	NM_014361.3,NM_175566.2	,	0,2,5937	AA,AG,GG		0.0244,0.0,0.0168	,	300/1101,226/1027	99872788	2,11876	1843	4096	5939	SO:0001819	synonymous_variant	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99872788G>A	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.900G>A	11.37:g.99872788G>A						CNTN5_uc009ywv.1_Silent_p.P300P|CNTN5_uc001pfz.2_Silent_p.P300P|CNTN5_uc001pgb.2_Silent_p.P226P	p.P300P	NM_014361	NP_055176	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	9	1239	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	300			Ig-like C2-type 3.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Silent	SNP	ENST00000524871.1	37	c.900G>A	CCDS53696.1																																																																																				0.363	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		7	24	0	0	0	0.006214	0	7	24				
ATXN2	6311	broad.mit.edu	37	12	111923133	111923133	+	Silent	SNP	A	A	C			TCGA-78-7163-01A-12D-2063-08	TCGA-78-7163-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1cdd6a30-03ce-4c46-86ab-8042ef4265b6	3f063fbc-81bd-4954-8c0e-6c03287f17af	g.chr12:111923133A>C	ENST00000377617.3	-	18	3101	c.2940T>G	c.(2938-2940)ccT>ccG	p.P980P	AC002395.1_ENST00000581907.1_RNA|ATXN2_ENST00000535949.1_Silent_p.P691P|ATXN2_ENST00000608853.1_Silent_p.P820P|ATXN2_ENST00000389153.4_Silent_p.P715P|ATXN2_ENST00000542287.2_Silent_p.P715P|ATXN2_ENST00000550104.1_Intron	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	980	Pro-rich.				cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TTGGGTATAAAGGCTTGAGAG	0.373																																							uc001tsj.2		NA																	0				ovary(1)|breast(1)	2						c.(2938-2940)CCT>CCG		ataxin 2							165.0	159.0	161.0					12																	111923133		2203	4300	6503	SO:0001819	synonymous_variant	6311				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding	g.chr12:111923133A>C	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.2940T>G	12.37:g.111923133A>C						ATXN2_uc001tsh.2_Silent_p.P715P|ATXN2_uc001tsi.2_Silent_p.P691P|ATXN2_uc001tsk.2_Intron|ATXN2_uc001tsg.2_Silent_p.P166P	p.P980P	NM_002973	NP_002964	Q99700	ATX2_HUMAN			18	3102	-			980			Pro-rich.		A6NLD4|Q6ZQZ7|Q99493	Silent	SNP	ENST00000377617.3	37	c.2940T>G	CCDS31902.1																																																																																				0.373	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		46	96	0	0	0	0.01441	0	46	96				
ARHGAP5	394	broad.mit.edu	37	14	32561096	32561096	+	Silent	SNP	T	T	C			TCGA-78-7163-01A-12D-2063-08	TCGA-78-7163-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1cdd6a30-03ce-4c46-86ab-8042ef4265b6	3f063fbc-81bd-4954-8c0e-6c03287f17af	g.chr14:32561096T>C	ENST00000345122.3	+	2	1536	c.1221T>C	c.(1219-1221)acT>acC	p.T407T	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Silent_p.T407T|ARHGAP5_ENST00000432921.1_Silent_p.T407T|ARHGAP5_ENST00000556611.1_Silent_p.T407T|ARHGAP5_ENST00000433497.1_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	407	FF 2.				cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TCCTGAGCACTTTAGAAGCTG	0.378																																					NSCLC(9;77 350 3443 29227 41353)	NSCLC(9;77 350 3443 29227 41353)	uc001wrl.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(1219-1221)ACT>ACC		Rho GTPase activating protein 5 isoform b							83.0	88.0	86.0					14																	32561096		2202	4297	6499	SO:0001819	synonymous_variant	394				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	g.chr14:32561096T>C	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.1221T>C	14.37:g.32561096T>C						ARHGAP5_uc001wrm.2_Silent_p.T407T|ARHGAP5_uc001wrn.2_Silent_p.T407T|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	p.T407T	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)	2	1460	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		407			FF 2.		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Silent	SNP	ENST00000345122.3	37	c.1221T>C	CCDS32062.1																																																																																				0.378	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055		24	86	0	0	0	0.004656	0	24	86				
PLA2G4F	255189	broad.mit.edu	37	15	42446614	42446614	+	Missense_Mutation	SNP	G	G	A	rs142310375		TCGA-78-7163-01A-12D-2063-08	TCGA-78-7163-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1cdd6a30-03ce-4c46-86ab-8042ef4265b6	3f063fbc-81bd-4954-8c0e-6c03287f17af	g.chr15:42446614G>A	ENST00000382396.4	-	3	313	c.227C>T	c.(226-228)gCg>gTg	p.A76V	PLA2G4F_ENST00000397272.3_Missense_Mutation_p.A76V			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	76	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)		GCTTGGGGACGCCGTGGGCAG	0.592																																							uc001zoz.2		NA																	0				ovary(4)	4						c.(226-228)GCG>GTG		phospholipase A2, group IVF		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	51.0	45.0	47.0		227	5.4	0.3	15	dbSNP_134	47	0,8598		0,0,4299	no	missense	PLA2G4F	NM_213600.3	64	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	76/850	42446614	1,13003	2203	4299	6502	SO:0001583	missense	255189				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42446614G>A		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.227C>T	15.37:g.42446614G>A	ENSP00000371833:p.Ala76Val					PLA2G4F_uc010bcr.2_5'UTR|PLA2G4F_uc001zpa.2_5'UTR|PLA2G4F_uc010bcs.2_5'UTR	p.A76V	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	3	290	-		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)	76			C2.		Q6ZMC8	Missense_Mutation	SNP	ENST00000382396.4	37	c.227C>T	CCDS32204.1	.	.	.	.	.	.	.	.	.	.	G	32	5.124839	0.94429	2.27E-4	0.0	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000357924;ENST00000443825	T;T	0.70986	-0.53;-0.53	5.4	5.4	0.78164	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000005	D	0.84777	0.5547	M	0.81614	2.55	0.42764	D	0.993811	D	0.89917	1.0	D	0.69307	0.963	D	0.86683	0.1918	10	0.87932	D	0	-18.2086	18.321	0.90238	0.0:0.0:1.0:0.0	.	76	Q68DD2	PA24F_HUMAN	V	72;76;76;76;76	ENSP00000380442:A76V;ENSP00000371833:A76V	ENSP00000290497:A72V	A	-	2	0	PLA2G4F	40233906	1.000000	0.71417	0.265000	0.24526	0.928000	0.56348	7.066000	0.76734	2.717000	0.92951	0.650000	0.86243	GCG		0.592	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		8	24	0	0	0	0.00308	0	8	24				
UNC45A	55898	broad.mit.edu	37	15	91482981	91482981	+	Silent	SNP	G	G	A			TCGA-78-7163-01A-12D-2063-08	TCGA-78-7163-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1cdd6a30-03ce-4c46-86ab-8042ef4265b6	3f063fbc-81bd-4954-8c0e-6c03287f17af	g.chr15:91482981G>A	ENST00000418476.2	+	5	487	c.447G>A	c.(445-447)acG>acA	p.T149T	UNC45A_ENST00000553671.2_3'UTR|UNC45A_ENST00000394275.2_Silent_p.T134T	NM_018671.3	NP_061141.2	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	149					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.T149T(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			TGTCCTCGACGGATGCCAAAG	0.483																																							uc002bqg.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(445-447)ACG>ACA		smooth muscle cell associated protein-1 isoform							142.0	123.0	129.0					15																	91482981		2198	4298	6496	SO:0001819	synonymous_variant	55898				cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding	g.chr15:91482981G>A		CCDS10367.1, CCDS42082.1	15q26.1	2008-02-05			ENSG00000140553	ENSG00000140553			30594	protein-coding gene	gene with protein product	"""smooth muscle cell associated protein-1"""	611219				12356907	Standard	XM_005254963		Approved	SMAP-1, GC-UNC45	uc002bqg.3	Q9H3U1	OTTHUMG00000141261	ENST00000418476.2:c.447G>A	15.37:g.91482981G>A						UNC45A_uc002bqd.2_Silent_p.T134T|UNC45A_uc010uqo.1_Silent_p.T141T|UNC45A_uc010uqp.1_RNA|UNC45A_uc010uqq.1_Silent_p.T149T	p.T149T	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	Lung(145;0.189)		5	787	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		149					A8K6F7|Q7L3Y6|Q9H3U8|Q9NSE8|Q9NSE9	Silent	SNP	ENST00000418476.2	37	c.447G>A	CCDS10367.1																																																																																				0.483	UNC45A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280406.2	NM_018671		27	29	0	0	0	0.012213	0	27	29				
DPP9	91039	broad.mit.edu	37	19	4695514	4695514	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7163-01A-12D-2063-08	TCGA-78-7163-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1cdd6a30-03ce-4c46-86ab-8042ef4265b6	3f063fbc-81bd-4954-8c0e-6c03287f17af	g.chr19:4695514A>G	ENST00000598800.1	-	13	1647	c.1142T>C	c.(1141-1143)cTc>cCc	p.L381P	DPP9_ENST00000597849.1_Missense_Mutation_p.L410P|DPP9_ENST00000262960.9_Missense_Mutation_p.L410P|DPP9_ENST00000594671.1_Missense_Mutation_p.L381P			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	381						cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GGCCGGGGGGAGGAGGACGAG	0.647																																							uc002mba.2		NA																	0				skin(1)	1						c.(1228-1230)CTC>CCC		dipeptidylpeptidase 9							10.0	12.0	11.0					19																	4695514		1998	4175	6173	SO:0001583	missense	91039				proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity	g.chr19:4695514A>G	AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"""dipeptidylpeptidase 9"""				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.1142T>C	19.37:g.4695514A>G	ENSP00000469603:p.Leu381Pro					DPP9_uc002mbb.2_Missense_Mutation_p.L410P|DPP9_uc002mbc.2_Intron	p.L410P	NM_139159	NP_631898	Q86TI2	DPP9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)	12	1487	-		Hepatocellular(1079;0.137)	381					O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Missense_Mutation	SNP	ENST00000598800.1	37	c.1229T>C		.	.	.	.	.	.	.	.	.	.	A	20.9	4.065233	0.76187	.	.	ENSG00000142002	ENST00000357909;ENST00000381797;ENST00000262960	T	0.32272	1.46	3.91	3.91	0.45181	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.159676	0.40222	N	0.001151	T	0.54143	0.1840	M	0.77103	2.36	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79108	0.986;0.992	T	0.59700	-0.7405	10	0.66056	D	0.02	-20.2056	12.0977	0.53765	1.0:0.0:0.0:0.0	.	381;410	Q86TI2;Q1ZZB8	DPP9_HUMAN;.	P	489;351;410	ENSP00000262960:L410P	ENSP00000262960:L410P	L	-	2	0	DPP9	4646514	1.000000	0.71417	0.996000	0.52242	0.961000	0.63080	8.852000	0.92215	1.648000	0.50643	0.459000	0.35465	CTC		0.647	DPP9-026	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000459343.2			2	6	0	0	0	0.004672	0	2	6				
GRIK5	2901	broad.mit.edu	37	19	42558472	42558472	+	Splice_Site	SNP	C	C	T			TCGA-78-7163-01A-12D-2063-08	TCGA-78-7163-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1cdd6a30-03ce-4c46-86ab-8042ef4265b6	3f063fbc-81bd-4954-8c0e-6c03287f17af	g.chr19:42558472C>T	ENST00000262895.3	-	8	1055	c.1056G>A	c.(1054-1056)atG>atA	p.M352I	GRIK5_ENST00000301218.4_Splice_Site_p.M352I|GRIK5_ENST00000593562.1_Splice_Site_p.M352I	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	352					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|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)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				TCGGGCTCACCATGCGCAGGT	0.647																																							uc002osj.1		NA																	0					0						c.(1054-1056)ATG>ATA		glutamate receptor KA2 precursor	L-Glutamic Acid(DB00142)						80.0	68.0	72.0					19																	42558472		2203	4300	6503	SO:0001630	splice_region_variant	2901					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr19:42558472C>T		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.1056+1G>A	19.37:g.42558472C>T						GRIK5_uc010eib.1_Missense_Mutation_p.M271I	p.M352I	NM_002088	NP_002079	Q16478	GRIK5_HUMAN			8	1091	-		Prostate(69;0.059)	352			Extracellular (Potential).		Q8WWG8	Missense_Mutation	SNP	ENST00000262895.3	37	c.1056G>A	CCDS12595.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032342	0.75504	.	.	ENSG00000105737	ENST00000262895;ENST00000301218	T;T	0.28454	1.61;1.61	5.1	5.1	0.69264	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.34048	0.0884	L	0.35487	1.065	0.51482	D	0.999924	B	0.33413	0.411	B	0.43701	0.428	T	0.05937	-1.0855	9	.	.	.	.	17.7268	0.88367	0.0:1.0:0.0:0.0	.	352	Q16478	GRIK5_HUMAN	I	352	ENSP00000262895:M352I;ENSP00000301218:M352I	.	M	-	3	0	GRIK5	47250312	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.306000	0.78905	2.554000	0.86153	0.586000	0.80456	ATG		0.647	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1		Missense_Mutation	18	45	0	0	0	0.008871	0	18	45				
EPCAM	4072	broad.mit.edu	37	2	47601056	47601056	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7163-01A-12D-2063-08	TCGA-78-7163-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1cdd6a30-03ce-4c46-86ab-8042ef4265b6	3f063fbc-81bd-4954-8c0e-6c03287f17af	g.chr2:47601056C>G	ENST00000263735.4	+	3	652	c.294C>G	c.(292-294)gaC>gaG	p.D98E	EPCAM_ENST00000405271.1_Missense_Mutation_p.D126E	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule	98	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|stem cell differentiation (GO:0048863)|ureteric bud development (GO:0001657)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein complex binding (GO:0032403)	p.0?(2)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						ATGATCCTGACTGCGATGAGA	0.507																																							uc002rvx.2		NA																	3	Whole gene deletion(2)|Unknown(1)		haematopoietic_and_lymphoid_tissue(3)	skin(1)	1						c.(292-294)GAC>GAG		epithelial cell adhesion molecule precursor							73.0	70.0	71.0					2																	47601056		2203	4300	6503	SO:0001583	missense	4072	Lynch_syndrome			positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding	g.chr2:47601056C>G	M33011	CCDS1833.1	2p21	2014-09-17	2008-12-16	2008-12-16	ENSG00000119888	ENSG00000119888		"""CD molecules"""	11529	protein-coding gene	gene with protein product		185535	"""antigen identified by monoclonal antibody AUA1"", ""tumor-associated calcium signal transducer 1"""	M4S1, MIC18, TACSTD1		8382772, 11306819	Standard	NM_002354		Approved	Ly74, TROP1, GA733-2, EGP34, EGP40, EGP-2, KSA, CD326, Ep-CAM, HEA125, KS1/4, MK-1, MH99, MOC31, 323/A3, 17-1A, TACST-1, CO-17A, ESA	uc002rvx.3	P16422	OTTHUMG00000128853	ENST00000263735.4:c.294C>G	2.37:g.47601056C>G	ENSP00000263735:p.Asp98Glu					EPCAM_uc002rvw.2_Missense_Mutation_p.D126E	p.D98E	NM_002354	NP_002345	P16422	EPCAM_HUMAN			3	652	+			98			Extracellular (Potential).|Thyroglobulin type-1.		P18180|Q6FG26|Q6FG49|Q96C47|Q9UCD0	Missense_Mutation	SNP	ENST00000263735.4	37	c.294C>G	CCDS1833.1	.	.	.	.	.	.	.	.	.	.	C	4.445	0.082436	0.08533	.	.	ENSG00000119888	ENST00000405271;ENST00000263735;ENST00000419334	T;T;T	0.61040	0.14;0.14;0.14	5.93	-6.88	0.01665	Thyroglobulin type-1 (6);	0.432757	0.27971	N	0.017115	T	0.22742	0.0549	N	0.03224	-0.385	0.21697	N	0.999587	B;B	0.12013	0.002;0.005	B;B	0.12156	0.005;0.007	T	0.39014	-0.9634	10	0.05351	T	0.99	-4.6974	13.8443	0.63457	0.1882:0.1045:0.6489:0.0585	.	98;126	P16422;B5MCA4	EPCAM_HUMAN;.	E	126;98;174	ENSP00000385476:D126E;ENSP00000263735:D98E;ENSP00000389028:D174E	ENSP00000263735:D98E	D	+	3	2	EPCAM	47454560	0.000000	0.05858	0.375000	0.26029	0.016000	0.09150	-1.988000	0.01482	-0.819000	0.04323	-0.176000	0.13171	GAC		0.507	EPCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250792.2			3	50	0	0	0	0.004672	0	3	50				
REL	5966	broad.mit.edu	37	2	61149129	61149129	+	Missense_Mutation	SNP	C	C	T	rs144119768		TCGA-78-7163-01A-12D-2063-08	TCGA-78-7163-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1cdd6a30-03ce-4c46-86ab-8042ef4265b6	3f063fbc-81bd-4954-8c0e-6c03287f17af	g.chr2:61149129C>T	ENST00000295025.8	+	11	1639	c.1319C>T	c.(1318-1320)tCg>tTg	p.S440L	REL_ENST00000394479.3_Missense_Mutation_p.S408L	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	440					cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			CCTTCTAATTCGCAAGGTATC	0.458			A		Hodgkin Lymphoma								C|||	1	0.000199681	0.0	0.0	5008	,	,		20480	0.001		0.0	False		,,,				2504	0.0						uc002sam.1		NA		Dom	yes		2	2p13-p12	5966	A	v-rel reticuloendotheliosis viral oncogene homolog (avian)			L			Hodgkin Lymphoma		0				ovary(2)|breast(1)	3						c.(1318-1320)TCG>TTG		v-rel reticuloendotheliosis viral oncogene							99.0	91.0	94.0					2																	61149129		2203	4300	6503	SO:0001583	missense	5966				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:61149129C>T	M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.1319C>T	2.37:g.61149129C>T	ENSP00000295025:p.Ser440Leu					REL_uc002san.1_Missense_Mutation_p.S408L	p.S440L	NM_002908	NP_002899	Q04864	REL_HUMAN	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)		11	1543	+	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	440					Q17RU2|Q2PNZ7|Q6LDY0	Missense_Mutation	SNP	ENST00000295025.8	37	c.1319C>T	CCDS1864.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.10	2.731663	0.48939	.	.	ENSG00000162924	ENST00000295025;ENST00000394479	T;T	0.56776	0.44;0.83	5.4	5.4	0.78164	.	0.416320	0.23180	N	0.051021	T	0.42539	0.1207	L	0.34521	1.04	0.34661	D	0.722672	P;P	0.49358	0.76;0.923	B;B	0.40134	0.212;0.32	T	0.54516	-0.8282	10	0.29301	T	0.29	-22.5888	15.8985	0.79353	0.0:1.0:0.0:0.0	.	408;440	Q17RU2;Q04864	.;REL_HUMAN	L	440;408	ENSP00000295025:S440L;ENSP00000377989:S408L	ENSP00000295025:S440L	S	+	2	0	REL	61002633	0.907000	0.30839	0.943000	0.38184	0.402000	0.30811	1.949000	0.40313	2.527000	0.85204	0.650000	0.86243	TCG		0.458	REL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251576.3	NM_002908		11	66	0	0	0	0.010729	0	11	66				
RAB6C	84084	broad.mit.edu	37	2	130738399	130738399	+	Silent	SNP	C	C	T			TCGA-78-7163-01A-12D-2063-08	TCGA-78-7163-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1cdd6a30-03ce-4c46-86ab-8042ef4265b6	3f063fbc-81bd-4954-8c0e-6c03287f17af	g.chr2:130738399C>T	ENST00000410061.2	+	1	1165	c.711C>T	c.(709-711)ttC>ttT	p.F237F	AC079776.7_ENST00000412425.1_RNA	NM_032144.2	NP_115520.2	Q9H0N0	RAB6C_HUMAN	RAB6C, member RAS oncogene family	237					cell cycle process (GO:0022402)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of centrosome duplication (GO:0010824)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5	Colorectal(110;0.1)					TGAACCTTTTCCCTTCATTAA	0.428																																							uc002tpx.1		NA																	0				lung(1)	1						c.(709-711)TTC>TTT		RAB6C, member RAS oncogene family							46.0	51.0	50.0					2																	130738399		2072	4229	6301	SO:0001819	synonymous_variant	84084				protein transport|response to drug|small GTPase mediated signal transduction		GTP binding|GTPase activity	g.chr2:130738399C>T	AF124200	CCDS46408.1	2q21.1	2012-07-02			ENSG00000222014	ENSG00000222014		"""RAB, member RAS oncogene"""	16525	protein-coding gene	gene with protein product		612909				11054569, 17426708	Standard	NM_032144		Approved	WTH3	uc002tpx.1	Q9H0N0	OTTHUMG00000153487	ENST00000410061.2:c.711C>T	2.37:g.130738399C>T						uc002tpw.1_5'Flank	p.F237F	NM_032144	NP_115520	Q9H0N0	RAB6C_HUMAN			1	1165	+	Colorectal(110;0.1)		237					Q53RU3|Q6FIF7|Q9P128	Silent	SNP	ENST00000410061.2	37	c.711C>T	CCDS46408.1																																																																																				0.428	RAB6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331384.1	NM_032144		9	69	0	0	0	0.008291	0	9	69				
ARPC2	10109	broad.mit.edu	37	2	219099087	219099087	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7163-01A-12D-2063-08	TCGA-78-7163-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1cdd6a30-03ce-4c46-86ab-8042ef4265b6	3f063fbc-81bd-4954-8c0e-6c03287f17af	g.chr2:219099087G>T	ENST00000295685.10	+	4	496	c.235G>T	c.(235-237)Gtg>Ttg	p.V79L	ARPC2_ENST00000315717.5_Missense_Mutation_p.V79L	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	79					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		ATTAAAGAGGGTGTACGGGAG	0.343																																							uc002vhd.2		NA																	0				ovary(1)	1						c.(235-237)GTG>TTG		actin related protein 2/3 complex subunit 2							120.0	124.0	123.0					2																	219099087		2203	4300	6503	SO:0001583	missense	10109				cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton	g.chr2:219099087G>T	AF006085	CCDS2410.1	2q36.1	2011-07-06	2002-08-29		ENSG00000163466	ENSG00000163466		"""Actin related protein 2/3 complex subunits"""	705	protein-coding gene	gene with protein product		604224	"""actin related protein 2/3 complex, subunit 2 (34 kD)"""			9359840, 9230079	Standard	NM_005731		Approved	p34-Arc, ARC34	uc002vhd.4	O15144	OTTHUMG00000133618	ENST00000295685.10:c.235G>T	2.37:g.219099087G>T	ENSP00000295685:p.Val79Leu					ARPC2_uc002vhe.2_Missense_Mutation_p.V79L|ARPC2_uc002vhf.2_5'Flank	p.V79L	NM_152862	NP_690601	O15144	ARPC2_HUMAN		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)	5	347	+		Renal(207;0.0474)	79					Q92801|Q9P1D4	Missense_Mutation	SNP	ENST00000295685.10	37	c.235G>T	CCDS2410.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.328982	0.60743	.	.	ENSG00000163466	ENST00000315717;ENST00000420104;ENST00000295685	.	.	.	5.65	5.65	0.86999	.	0.112956	0.64402	D	0.000015	T	0.58892	0.2154	L	0.50333	1.59	0.80722	D	1	B	0.02656	0.0	B	0.11329	0.006	T	0.50906	-0.8772	9	0.30854	T	0.27	.	18.0832	0.89449	0.0:0.0:1.0:0.0	.	79	O15144	ARPC2_HUMAN	L	79	.	ENSP00000295685:V79L	V	+	1	0	ARPC2	218807332	1.000000	0.71417	0.980000	0.43619	0.957000	0.61999	8.124000	0.89588	2.941000	0.99782	0.655000	0.94253	GTG		0.343	ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256777.2	NM_005731		12	76	1	0	3.27435e-08	0.00245	1.07861e-07	12	76				
DOCK10	55619	broad.mit.edu	37	2	225630503	225630503	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7163-01A-12D-2063-08	TCGA-78-7163-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1cdd6a30-03ce-4c46-86ab-8042ef4265b6	3f063fbc-81bd-4954-8c0e-6c03287f17af	g.chr2:225630503G>C	ENST00000258390.7	-	56	6563	c.6496C>G	c.(6496-6498)Cga>Gga	p.R2166G	DOCK10_ENST00000409592.3_Missense_Mutation_p.R2160G	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	2166					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CTAATTACTCGAGTGCAGGTT	0.502																																							uc010fwz.1		NA																	0				ovary(2)	2						c.(6496-6498)CGA>GGA		dedicator of cytokinesis 10							171.0	166.0	167.0					2																	225630503		1939	4135	6074	SO:0001583	missense	55619						GTP binding	g.chr2:225630503G>C	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.6496C>G	2.37:g.225630503G>C	ENSP00000258390:p.Arg2166Gly					DOCK10_uc002vob.2_Missense_Mutation_p.R2160G|DOCK10_uc002voa.2_Missense_Mutation_p.S847W	p.R2166G	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	56	6735	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	2166					B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.6496C>G	CCDS46528.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.84|10.84	1.465325|1.465325	0.26335|0.26335	.|.	.|.	ENSG00000135905|ENSG00000135905	ENST00000409592;ENST00000258390|ENST00000373702	T;T|.	0.20200|.	2.09;2.09|.	5.18|5.18	5.18|5.18	0.71444|0.71444	.|.	1.746670|.	0.03072|.	N|.	0.157327|.	T|T	0.22551|0.22551	0.0544|0.0544	N|N	0.08118|0.08118	0|0	0.18873|0.18873	N|N	0.999983|0.999983	B;B|P	0.16166|0.46987	0.011;0.016|0.888	B;B|B	0.14578|0.37731	0.008;0.011|0.257	T|T	0.20042|0.20042	-1.0287|-1.0287	10|8	0.49607|0.87932	T|D	0.09|0	.|.	16.8758|16.8758	0.86051|0.86051	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2166;2160|853	Q96BY6;B3FL70|B4DEY4	DOC10_HUMAN;.|.	G|W	2160;2166|698	ENSP00000386694:R2160G;ENSP00000258390:R2166G|.	ENSP00000258390:R2166G|ENSP00000362806:S698W	R|S	-|-	1|2	2|0	DOCK10|DOCK10	225338747|225338747	0.497000|0.497000	0.26067|0.26067	0.030000|0.030000	0.17652|0.17652	0.449000|0.449000	0.32228|0.32228	4.410000|4.410000	0.59774|0.59774	2.427000|2.427000	0.82271|0.82271	0.561000|0.561000	0.74099|0.74099	CGA|TCG		0.502	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			8	25	0	0	0	0.006214	0	8	25				
FAM65C	140876	broad.mit.edu	37	20	49247380	49247380	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7163-01A-12D-2063-08	TCGA-78-7163-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1cdd6a30-03ce-4c46-86ab-8042ef4265b6	3f063fbc-81bd-4954-8c0e-6c03287f17af	g.chr20:49247380G>A	ENST00000327979.2	-	2	416	c.5C>T	c.(4-6)tCg>tTg	p.S2L	FAM65C_ENST00000045083.2_Missense_Mutation_p.S2L|FAM65C_ENST00000535356.1_Missense_Mutation_p.S6L			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	2										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAACCTCACCGACATGGTGGT	0.662																																							uc002xvm.2		NA																	0				ovary(2)	2						c.(4-6)TCG>TTG		hypothetical protein LOC140876							28.0	22.0	24.0					20																	49247380		2199	4299	6498	SO:0001583	missense	140876							g.chr20:49247380G>A	AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 175"", ""chromosome 20 open reading frame 176"""	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.5C>T	20.37:g.49247380G>A	ENSP00000332663:p.Ser2Leu					FAM65C_uc010zyt.1_Missense_Mutation_p.S6L|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Missense_Mutation_p.S2L	p.S2L	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN			2	323	-			2					Q5QPB6|Q9NQQ2	Missense_Mutation	SNP	ENST00000327979.2	37	c.5C>T	CCDS13431.2	.	.	.	.	.	.	.	.	.	.	G	11.09	1.537850	0.27475	.	.	ENSG00000042062	ENST00000327979;ENST00000045083;ENST00000535356	T;T;T	0.24908	1.86;1.86;1.83	4.91	4.91	0.64330	.	0.000000	0.64402	D	0.000001	T	0.40886	0.1135	L	0.56769	1.78	0.53688	D	0.999978	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.28933	-1.0028	10	0.02654	T	1	-10.4572	13.9446	0.64077	0.0:0.0:1.0:0.0	.	6;2	F5H0X2;Q96MK2	.;FA65C_HUMAN	L	2;2;6	ENSP00000332663:S2L;ENSP00000045083:S2L;ENSP00000439802:S6L	ENSP00000045083:S2L	S	-	2	0	FAM65C	48680787	0.999000	0.42202	0.995000	0.50966	0.778000	0.44026	4.426000	0.59882	2.414000	0.81942	0.561000	0.74099	TCG		0.662	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1			4	18	0	0	0	0.000602	0	4	18				
FOXRED2	80020	broad.mit.edu	37	22	36902334	36902334	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7163-01A-12D-2063-08	TCGA-78-7163-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1cdd6a30-03ce-4c46-86ab-8042ef4265b6	3f063fbc-81bd-4954-8c0e-6c03287f17af	g.chr22:36902334C>T	ENST00000397224.4	-	2	229	c.136G>A	c.(136-138)Gcc>Acc	p.A46T	FOXRED2_ENST00000216187.6_Missense_Mutation_p.A46T|FOXRED2_ENST00000397223.4_Missense_Mutation_p.A46T	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	46					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AGGAAGTAGGCCATCTGCAGG	0.736																																							uc003apn.3		NA																	0				lung(1)|kidney(1)	2						c.(136-138)GCC>ACC		FAD-dependent oxidoreductase domain containing 2							18.0	16.0	17.0					22																	36902334		2198	4293	6491	SO:0001583	missense	80020				ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chr22:36902334C>T	BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.136G>A	22.37:g.36902334C>T	ENSP00000380401:p.Ala46Thr					FOXRED2_uc003apo.3_Missense_Mutation_p.A46T|FOXRED2_uc003app.3_Missense_Mutation_p.A46T	p.A46T	NM_024955	NP_079231	Q8IWF2	FXRD2_HUMAN			1	244	-			46					B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Missense_Mutation	SNP	ENST00000397224.4	37	c.136G>A	CCDS13929.1	.	.	.	.	.	.	.	.	.	.	C	37	6.061030	0.97246	.	.	ENSG00000100350	ENST00000397224;ENST00000216187;ENST00000397223;ENST00000423980	T;T;T;T	0.56275	0.47;0.47;0.47;1.69	5.14	5.14	0.70334	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.057387	0.64402	D	0.000001	T	0.81216	0.4776	H	0.95917	3.74	0.51482	D	0.999924	D	0.71674	0.998	D	0.72625	0.978	D	0.87446	0.2398	10	0.72032	D	0.01	-28.6395	16.7797	0.85560	0.0:1.0:0.0:0.0	.	46	Q8IWF2	FXRD2_HUMAN	T	46	ENSP00000380401:A46T;ENSP00000216187:A46T;ENSP00000380400:A46T;ENSP00000409692:A46T	ENSP00000216187:A46T	A	-	1	0	FOXRED2	35232280	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.660000	0.83776	2.390000	0.81377	0.561000	0.74099	GCC		0.736	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104098.2	NM_024955		5	4	0	0	0	0.000602	0	5	4				
TUBB	203068	broad.mit.edu	37	6	30691480	30691480	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7163-01A-12D-2063-08	TCGA-78-7163-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1cdd6a30-03ce-4c46-86ab-8042ef4265b6	3f063fbc-81bd-4954-8c0e-6c03287f17af	g.chr6:30691480C>A	ENST00000327892.8	+	4	947	c.641C>A	c.(640-642)aCt>aAt	p.T214N	TUBB_ENST00000396384.1_Missense_Mutation_p.T142N|TUBB_ENST00000435534.1_Intron|TUBB_ENST00000330914.3_Missense_Mutation_p.T142N|TUBB_ENST00000396389.1_Missense_Mutation_p.T196N|XXbac-BPG252P9.9_ENST00000607476.1_RNA	NM_178014.2	NP_821133.1	P07437	TBB5_HUMAN	tubulin, beta class I	214					cell division (GO:0051301)|cellular component movement (GO:0006928)|cellular process (GO:0009987)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cell body (GO:0044297)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.T214I(1)		breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Podofilox(DB01179)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	TGCTTCCGCACTCTGAAGCTG	0.537																																							uc003nrl.2		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(1)	1						c.(640-642)ACT>AAT		tubulin, beta	Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)						101.0	93.0	96.0					6																	30691480		2203	4300	6503	SO:0001583	missense	203068				cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding	g.chr6:30691480C>A	AB062393	CCDS4687.1	6p21.33	2011-10-10	2011-10-10		ENSG00000196230	ENSG00000196230		"""Tubulins"""	20778	protein-coding gene	gene with protein product	"""class I beta-tubulin"", ""beta1-tubulin"""	191130	"""tubulin, beta polypeptide"", ""tubulin, beta"""			11504633, 8270253	Standard	NM_001293212		Approved	OK/SW-cl.56, MGC16435, M40, Tubb5	uc003nrl.3	P07437	OTTHUMG00000031059	ENST00000327892.8:c.641C>A	6.37:g.30691480C>A	ENSP00000339001:p.Thr214Asn					TUBB_uc003nrk.1_Missense_Mutation_p.T214N|TUBB_uc011dmq.1_Missense_Mutation_p.T142N	p.T214N	NM_178014	NP_821133	P07437	TBB5_HUMAN			4	768	+			214					P05218|Q8WUC1|Q9CY33	Missense_Mutation	SNP	ENST00000327892.8	37	c.641C>A	CCDS4687.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.028520	0.35797	.	.	ENSG00000196230	ENST00000327892;ENST00000422827;ENST00000330914;ENST00000396389;ENST00000396384;ENST00000538863	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	4.64	4.64	0.57946	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	T	0.74230	0.3689	L	0.60067	1.865	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.97110	1.0;0.999	T	0.77542	-0.2549	10	0.87932	D	0	.	15.036	0.71748	0.0:1.0:0.0:0.0	.	214;214	P07437;F8VW92	TBB5_HUMAN;.	N	214;123;142;196;142;68	ENSP00000339001:T214N;ENSP00000365578:T142N;ENSP00000379672:T196N;ENSP00000379668:T142N	ENSP00000339001:T214N	T	+	2	0	TUBB	30799459	1.000000	0.71417	0.965000	0.40720	0.422000	0.31414	7.394000	0.79862	2.400000	0.81607	0.591000	0.81541	ACT		0.537	TUBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076074.2	NM_178014		4	105	1	0	1.024e-07	0.000602	3.2768e-07	4	105				
TMEM63B	55362	broad.mit.edu	37	6	44102330	44102330	+	Silent	SNP	C	C	G			TCGA-78-7163-01A-12D-2063-08	TCGA-78-7163-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1cdd6a30-03ce-4c46-86ab-8042ef4265b6	3f063fbc-81bd-4954-8c0e-6c03287f17af	g.chr6:44102330C>G	ENST00000259746.9	+	2	192	c.9C>G	c.(7-9)ccC>ccG	p.P3P	TMEM63B_ENST00000323267.6_Silent_p.P3P			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	3					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CCATGCTGCCCTTTCTGCTGG	0.652																																							uc003owr.2		NA																	0				pancreas(2)|central_nervous_system(1)	3						c.(7-9)CCC>CCG		transmembrane protein 63B							80.0	54.0	63.0					6																	44102330		2203	4300	6503	SO:0001819	synonymous_variant	55362					integral to membrane	nucleotide binding|protein binding	g.chr6:44102330C>G	BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 110"""	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.9C>G	6.37:g.44102330C>G						TMEM63B_uc003owq.1_Silent_p.P3P|TMEM63B_uc010jyy.1_5'UTR|TMEM63B_uc003ows.2_5'Flank	p.P3P	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)		2	73	+	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		3					B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Silent	SNP	ENST00000259746.9	37	c.9C>G	CCDS34461.1																																																																																				0.652	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040712.2	XM_166410		10	21	0	0	0	0.006214	0	10	21				
LPA	4018	broad.mit.edu	37	6	160999606	160999606	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7163-01A-12D-2063-08	TCGA-78-7163-11A-01D-2063-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1cdd6a30-03ce-4c46-86ab-8042ef4265b6	3f063fbc-81bd-4954-8c0e-6c03287f17af	g.chr6:160999606T>G	ENST00000316300.5	-	27	4464	c.4420A>C	c.(4420-4422)Aca>Cca	p.T1474P	LPA_ENST00000447678.1_Missense_Mutation_p.T1474P			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3982	Kringle 13. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GTGGGAGTTGTGAGGACACTC	0.498																																							uc003qtl.2		NA																	0				ovary(3)|skin(2)|pancreas(1)	6						c.(4420-4422)ACA>CCA		lipoprotein Lp(a) precursor	Aminocaproic Acid(DB00513)						164.0	174.0	171.0					6																	160999606		2126	4269	6395	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:160999606T>G	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4420A>C	6.37:g.160999606T>G	ENSP00000321334:p.Thr1474Pro						p.T1474P	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	28	4540	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3982			Kringle 35.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.4420A>C	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	t	9.406	1.079267	0.20227	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.61742	0.08;0.08	2.2	-1.75	0.08031	Kringle-like fold (1);	.	.	.	.	T	0.12220	0.0297	N	0.05280	-0.08	0.09310	N	1	B	0.23490	0.086	B	0.26310	0.068	T	0.31138	-0.9954	9	0.26408	T	0.33	.	6.0395	0.19726	0.0:0.4534:0.0:0.5466	.	3982	P08519	APOA_HUMAN	P	1474	ENSP00000321334:T1474P;ENSP00000395608:T1474P	ENSP00000321334:T1474P	T	-	1	0	LPA	160919596	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	-1.109000	0.03309	-0.444000	0.07170	0.147000	0.16070	ACA		0.498	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		6	109	0	0	0	0.00308	0	6	109				
CHD7	55636	broad.mit.edu	37	8	61766029	61766029	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7163-01A-12D-2063-08	TCGA-78-7163-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1cdd6a30-03ce-4c46-86ab-8042ef4265b6	3f063fbc-81bd-4954-8c0e-6c03287f17af	g.chr8:61766029G>A	ENST00000423902.2	+	31	7224	c.6745G>A	c.(6745-6747)Gat>Aat	p.D2249N	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2249	Glu-rich.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGAGGATGACGATAAGTCGGA	0.522																																							uc003xue.2		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(6745-6747)GAT>AAT		chromodomain helicase DNA binding protein 7							65.0	68.0	67.0					8																	61766029		2028	4174	6202	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61766029G>A	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.6745G>A	8.37:g.61766029G>A	ENSP00000392028:p.Asp2249Asn						p.D2249N	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		31	7222	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	2249			Glu-rich.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.6745G>A	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.602413	0.87157	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.82255	-1.59	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.89104	0.6620	L	0.54323	1.7	0.58432	D	0.999997	D	0.76494	0.999	D	0.75020	0.985	D	0.87731	0.2579	10	0.37606	T	0.19	-21.8665	18.9564	0.92659	0.0:0.0:1.0:0.0	.	2249	Q9P2D1	CHD7_HUMAN	N	2249	ENSP00000392028:D2249N	ENSP00000307304:D2249N	D	+	1	0	CHD7	61928583	1.000000	0.71417	0.943000	0.38184	0.945000	0.59286	7.561000	0.82288	2.479000	0.83701	0.655000	0.94253	GAT		0.522	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		5	53	0	0	0	0.000602	0	5	53				
CSMD3	114788	broad.mit.edu	37	8	113402962	113402962	+	Nonsense_Mutation	SNP	G	G	C			TCGA-78-7163-01A-12D-2063-08	TCGA-78-7163-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1cdd6a30-03ce-4c46-86ab-8042ef4265b6	3f063fbc-81bd-4954-8c0e-6c03287f17af	g.chr8:113402962G>C	ENST00000297405.5	-	36	6109	c.5865C>G	c.(5863-5865)taC>taG	p.Y1955*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.Y1915*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.Y1851*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.Y1885*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1955	CUB 11. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAGGCTCAGGGTATCCAGGTG	0.398										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(5863-5865)TAC>TAG		CUB and Sushi multiple domains 3 isoform 1							92.0	85.0	87.0					8																	113402962		2203	4300	6503	SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:113402962G>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5865C>G	8.37:g.113402962G>C	ENSP00000297405:p.Tyr1955*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Nonsense_Mutation_p.Y1157*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.Y1915*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.Y1851*	p.Y1955*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			36	6024	-			1955			Extracellular (Potential).|CUB 11.		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	c.5865C>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	46	12.290404	0.99654	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	5.14	-0.249	0.13011	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2912	0.49252	0.5331:0.0:0.4669:0.0	.	.	.	.	X	1915;1955;1225;1851;1885	.	ENSP00000297405:Y1955X	Y	-	3	2	CSMD3	113472138	0.985000	0.35326	0.998000	0.56505	0.865000	0.49528	0.178000	0.16820	0.007000	0.14760	0.467000	0.42956	TAC		0.398	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		18	34	0	0	0	0.00499	0	18	34				
RPS6KA3	6197	broad.mit.edu	37	X	20181107	20181107	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7163-01A-12D-2063-08	TCGA-78-7163-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1cdd6a30-03ce-4c46-86ab-8042ef4265b6	3f063fbc-81bd-4954-8c0e-6c03287f17af	g.chrX:20181107C>T	ENST00000379565.3	-	19	2023	c.1816G>A	c.(1816-1818)Gtc>Atc	p.V606I	RPS6KA3_ENST00000544447.1_Missense_Mutation_p.V578I|RPS6KA3_ENST00000379548.4_Missense_Mutation_p.V576I|RPS6KA3_ENST00000540702.1_Missense_Mutation_p.V577I|RPS6KA3_ENST00000479809.1_5'UTR	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	606	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|central nervous system development (GO:0007417)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|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)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41					Acetylsalicylic acid(DB00945)	TAGAGTAGGACACCAAGACTC	0.338																																							uc004czu.2		NA																	0				central_nervous_system(4)|stomach(1)|ovary(1)|lung(1)|breast(1)	8						c.(1816-1818)GTC>ATC		ribosomal protein S6 kinase, 90kDa, polypeptide							171.0	146.0	154.0					X																	20181107		2203	4300	6503	SO:0001583	missense	6197				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|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|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:20181107C>T	U08316	CCDS14197.1	Xp22.2-p22.1	2013-06-03	2002-08-29		ENSG00000177189	ENSG00000177189			10432	protein-coding gene	gene with protein product		300075	"""ribosomal protein S6 kinase, 90kD, polypeptide 3"", ""mental retardation, X-linked 19"", ""Coffin-Lowry syndrome"""	MRX19, CLS		8141249, 11896450, 16879200	Standard	XM_005274573		Approved	RSK, RSK2, HU-3	uc004czu.3	P51812	OTTHUMG00000021231	ENST00000379565.3:c.1816G>A	X.37:g.20181107C>T	ENSP00000368884:p.Val606Ile					RPS6KA3_uc011mjk.1_Missense_Mutation_p.V576I|RPS6KA3_uc004czv.2_Missense_Mutation_p.V593I|RPS6KA3_uc011mjl.1_Missense_Mutation_p.V577I|RPS6KA3_uc011mjm.1_Missense_Mutation_p.V578I	p.V606I	NM_004586	NP_004577	P51812	KS6A3_HUMAN			19	1816	-			606			Protein kinase 2.		B2R9V4|Q4VAP3|Q59H26|Q5JPK8|Q7Z3Z7	Missense_Mutation	SNP	ENST00000379565.3	37	c.1816G>A	CCDS14197.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.135321	0.56828	.	.	ENSG00000177189	ENST00000379565;ENST00000544447;ENST00000379548;ENST00000540702	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.04	5.04	0.67666	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.58308	0.2113	L	0.47016	1.485	0.80722	D	1	B;B;D;B	0.62365	0.023;0.041;0.991;0.04	B;B;D;B	0.80764	0.045;0.059;0.994;0.045	T	0.55909	-0.8066	10	0.36615	T	0.2	.	17.5875	0.87986	0.0:1.0:0.0:0.0	.	577;576;578;606	B4DG22;F5GYC4;B7ZB17;P51812	.;.;.;KS6A3_HUMAN	I	606;578;576;577	ENSP00000368884:V606I;ENSP00000440220:V578I;ENSP00000368865:V576I;ENSP00000444837:V577I	ENSP00000368865:V576I	V	-	1	0	RPS6KA3	20091028	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.070000	0.71220	2.080000	0.62538	0.415000	0.27848	GTC		0.338	RPS6KA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056011.3	NM_004586		39	61	0	0	0	0.013114	0	39	61				
XK	7504	broad.mit.edu	37	X	37553663	37553663	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7163-01A-12D-2063-08	TCGA-78-7163-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1cdd6a30-03ce-4c46-86ab-8042ef4265b6	3f063fbc-81bd-4954-8c0e-6c03287f17af	g.chrX:37553663C>A	ENST00000378616.3	+	2	573	c.370C>A	c.(370-372)Cag>Aag	p.Q124K	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group	124					amino acid transport (GO:0006865)|transport (GO:0006810)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				GGAGGTGGGCCAGGCAGAAGG	0.537																																							uc004ddq.2		NA																	0					0						c.(370-372)CAG>AAG		membrane transport protein XK							108.0	75.0	87.0					X																	37553663		2202	4300	6502	SO:0001583	missense	7504				amino acid transport	integral to membrane	protein binding|transporter activity	g.chrX:37553663C>A	Z32684	CCDS14241.1	Xp21.1	2014-07-19	2014-06-18		ENSG00000047597	ENSG00000047597		"""Blood group antigens"""	12811	protein-coding gene	gene with protein product	"""Kx antigen"", ""McLeod syndrome"""	314850	"""Kell blood group precursor (McLeod phenotype)"", ""XK, Kell blood group complex subunit (McLeod syndrome)"", ""neuroacanthocytosis"", ""neurocanthocytosis"""	NA, NAC		8004674, 11761473	Standard	NM_021083		Approved	XKR1, Kx, X1k	uc004ddq.3	P51811	OTTHUMG00000033171	ENST00000378616.3:c.370C>A	X.37:g.37553663C>A	ENSP00000367879:p.Gln124Lys						p.Q124K	NM_021083	NP_066569	P51811	XK_HUMAN			2	452	+		all_lung(315;0.175)	124			Extracellular (Potential).		Q4TTN6|Q8IUK6|Q9UC77	Missense_Mutation	SNP	ENST00000378616.3	37	c.370C>A	CCDS14241.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261584	0.39995	.	.	ENSG00000047597	ENST00000378616	T	0.63580	-0.05	6.04	5.11	0.69529	.	0.053905	0.85682	D	0.000000	T	0.66906	0.2837	M	0.72118	2.19	0.53005	D	0.999961	P	0.49358	0.923	P	0.46510	0.519	T	0.66312	-0.5955	10	0.28530	T	0.3	-6.6136	16.9257	0.86175	0.137:0.863:0.0:0.0	.	124	P51811	XK_HUMAN	K	124	ENSP00000367879:Q124K	ENSP00000367879:Q124K	Q	+	1	0	XK	37438602	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.709000	0.68384	2.555000	0.86185	0.513000	0.50165	CAG		0.537	XK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080875.1	NM_021083		7	6	1	0	2.0095e-06	0.001984	6.25177e-06	7	6				
VSIG1	340547	broad.mit.edu	37	X	107310218	107310218	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7163-01A-12D-2063-08	TCGA-78-7163-11A-01D-2063-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1cdd6a30-03ce-4c46-86ab-8042ef4265b6	3f063fbc-81bd-4954-8c0e-6c03287f17af	g.chrX:107310218G>A	ENST00000217957.5	+	3	383	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	VSIG1_ENST00000415430.3_Missense_Mutation_p.R125Q|VSIG1_ENST00000485533.1_3'UTR	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	89	Ig-like V-type 1.					integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						TTTAAAGATCGAATTACAGGG	0.438																																							uc004eno.2		NA																	0		p.R89G(1)		upper_aerodigestive_tract(1)|ovary(1)	2						c.(265-267)CGA>CAA		V-set and immunoglobulin domain containing 1							135.0	117.0	123.0					X																	107310218		2203	4300	6503	SO:0001583	missense	340547					integral to membrane		g.chrX:107310218G>A	BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.266G>A	X.37:g.107310218G>A	ENSP00000217957:p.Arg89Gln					VSIG1_uc011msk.1_Missense_Mutation_p.R125Q	p.R89Q	NM_182607	NP_872413	Q86XK7	VSIG1_HUMAN			3	427	+			89			Extracellular (Potential).|Ig-like V-type 1.		C9J4P2|Q6MZS4	Missense_Mutation	SNP	ENST00000217957.5	37	c.266G>A	CCDS14535.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207827	0.58343	.	.	ENSG00000101842	ENST00000415430;ENST00000217957;ENST00000458383	T;T;T	0.72282	-0.64;1.06;-0.64	5.19	5.19	0.71726	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000042	D	0.88437	0.6436	H	0.95079	3.62	0.42460	D	0.992786	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.91786	0.5439	10	0.87932	D	0	.	14.5308	0.67923	0.0:0.0:1.0:0.0	.	125;89	C9J4P2;Q86XK7	.;VSIG1_HUMAN	Q	125;89;125	ENSP00000402219:R125Q;ENSP00000217957:R89Q;ENSP00000407102:R125Q	ENSP00000217957:R89Q	R	+	2	0	VSIG1	107196874	1.000000	0.71417	0.646000	0.29493	0.072000	0.16883	6.095000	0.71439	2.406000	0.81754	0.594000	0.82650	CGA		0.438	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057858.1	NM_182607		8	95	0	0	0	0.00308	0	8	95				
ARHGAP4	393	broad.mit.edu	37	X	153184369	153184369	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7163-01A-12D-2063-08	TCGA-78-7163-11A-01D-2063-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1cdd6a30-03ce-4c46-86ab-8042ef4265b6	3f063fbc-81bd-4954-8c0e-6c03287f17af	g.chrX:153184369C>A	ENST00000350060.5	-	7	990	c.949G>T	c.(949-951)Gac>Tac	p.D317Y	ARHGAP4_ENST00000370028.3_Missense_Mutation_p.D357Y|ARHGAP4_ENST00000393721.1_Intron|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.D294Y|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.D296Y	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	317					apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTGGCTTTGTCCCCTGGAGGA	0.647																																							uc004fjk.1		NA																	0				central_nervous_system(1)	1						c.(949-951)GAC>TAC		Rho GTPase activating protein 4 isoform 2							84.0	77.0	79.0					X																	153184369		2203	4300	6503	SO:0001583	missense	393				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chrX:153184369C>A	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"""Rho GTPase activating proteins"""	674	protein-coding gene	gene with protein product	"""Rho-GAP hematopoietic protein C1"""	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.949G>T	X.37:g.153184369C>A	ENSP00000203786:p.Asp317Tyr					ARHGAP4_uc011mzf.1_Missense_Mutation_p.D294Y|ARHGAP4_uc004fjl.1_Missense_Mutation_p.D357Y|ARHGAP4_uc010nup.1_RNA	p.D317Y	NM_001666	NP_001657	P98171	RHG04_HUMAN			7	991	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		317					Q14144|Q86UY3	Missense_Mutation	SNP	ENST00000350060.5	37	c.949G>T	CCDS14736.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107664	0.77096	.	.	ENSG00000089820	ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206;ENST00000422918	T;T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0;1.44	4.89	4.89	0.63831	.	0.000000	0.44902	D	0.000417	T	0.81273	0.4788	M	0.85462	2.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85038	0.0921	10	0.87932	D	0	.	16.1674	0.81777	0.0:1.0:0.0:0.0	.	357;317	Q86UY3;P98171	.;RHG04_HUMAN	Y	357;317;296;294;92	ENSP00000359045:D357Y;ENSP00000203786:D317Y;ENSP00000359033:D296Y;ENSP00000444169:D294Y;ENSP00000398019:D92Y	ENSP00000203786:D317Y	D	-	1	0	ARHGAP4	152837563	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	7.492000	0.81482	2.155000	0.67459	0.525000	0.51046	GAC		0.647	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666		6	71	1	0	0.00116845	0.001168	0.00335554	6	71				
SCN8A	6334	broad.mit.edu	37	12	52200312	52200313	+	Frame_Shift_Ins	INS	-	-	T			TCGA-78-7163-01A-12D-2063-08	TCGA-78-7163-11A-01D-2063-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1cdd6a30-03ce-4c46-86ab-8042ef4265b6	3f063fbc-81bd-4954-8c0e-6c03287f17af	g.chr12:52200312_52200313insT	ENST00000354534.6	+	27	5220_5221	c.5042_5043insT	c.(5041-5046)ggtatcfs	p.I1682fs	SCN8A_ENST00000545061.1_Frame_Shift_Ins_p.I1641fs	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1682					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	CACGAGGCTGGTATCGATGACA	0.485																																							uc001ryw.2		NA																	0				ovary(7)	7						c.(5041-5043)GGTfs		sodium channel, voltage gated, type VIII, alpha	Lamotrigine(DB00555)																																			SO:0001589	frameshift_variant	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52200312_52200313insT	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.5043dupT	12.37:g.52200313_52200313dupT	ENSP00000346534:p.Ile1682fs						p.G1681fs	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	27	5220_5221	+			1681			IV.		B9VWG8|O95788|Q9NYX2|Q9UPB2	Frame_Shift_Ins	INS	ENST00000354534.6	37	c.5042_5043insT	CCDS44891.1																																																																																				0.485	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		29	88	NA	NA	NA	NA	NA	29	88	---	---	---	---
BTBD3	22903	broad.mit.edu	37	20	11899098	11899100	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-78-7163-01A-12D-2063-08	TCGA-78-7163-11A-01D-2063-08	AAG	AAG	-	-	AAG	AAG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1cdd6a30-03ce-4c46-86ab-8042ef4265b6	3f063fbc-81bd-4954-8c0e-6c03287f17af	g.chr20:11899098_11899100delAAG	ENST00000405977.1	+	2	800_802	c.175_177delAAG	c.(175-177)aagdel	p.K61del	BTBD3_ENST00000378226.2_In_Frame_Del_p.K61del|RP4-742J24.2_ENST00000439529.1_RNA|BTBD3_ENST00000254977.3_5'UTR|BTBD3_ENST00000399006.2_5'UTR	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	61					cerebral cortex development (GO:0021987)|dendrite morphogenesis (GO:0048813)	cytosol (GO:0005829)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						GAAGACTAAAAAGAAGAAGATGG	0.453																																							uc002wnz.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(175-177)AAGdel		BTB/POZ domain containing protein 3 isoform a			,	8,4256		4,0,2128					,	4.0	1.0			146	20,8234		10,0,4117	no	utr-5,coding	BTBD3	NM_181443.1,NM_014962.2	,	14,0,6245	A1A1,A1R,RR		0.2423,0.1876,0.2237	,	,		28,12490				SO:0001651	inframe_deletion	22903							g.chr20:11899098_11899100delAAG	AB023169	CCDS13113.1, CCDS13114.1	20p12.2	2013-01-08			ENSG00000132640	ENSG00000132640		"""BTB/POZ domain containing"""	15854	protein-coding gene	gene with protein product		615566					Standard	NM_001282551		Approved	KIAA0952, dJ742J24.1	uc002wnz.3	Q9Y2F9	OTTHUMG00000031889	ENST00000405977.1:c.175_177delAAG	20.37:g.11899104_11899106delAAG	ENSP00000384545:p.Lys61del					BTBD3_uc002wny.2_5'UTR|BTBD3_uc002woa.2_5'UTR|BTBD3_uc010zrf.1_5'UTR|BTBD3_uc010zrg.1_5'Flank|BTBD3_uc010zrh.1_5'Flank	p.K61del	NM_014962	NP_055777	Q9Y2F9	BTBD3_HUMAN			1	534_536	+			61					D3DW19|Q5JY73	In_Frame_Del	DEL	ENST00000405977.1	37	c.175_177delAAG	CCDS13113.1																																																																																				0.453	BTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078021.3			44	185	NA	NA	NA	NA	NA	44	185	---	---	---	---
TPTE	7179	broad.mit.edu	37	21	10944697	10944697	+	Frame_Shift_Del	DEL	A	A	-			TCGA-78-7163-01A-12D-2063-08	TCGA-78-7163-11A-01D-2063-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1cdd6a30-03ce-4c46-86ab-8042ef4265b6	3f063fbc-81bd-4954-8c0e-6c03287f17af	g.chr21:10944697delA	ENST00000361285.4	-	11	866	c.537delT	c.(535-537)tttfs	p.F179fs	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Frame_Shift_Del_p.F141fs|TPTE_ENST00000298232.7_Frame_Shift_Del_p.F161fs	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	179					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACTTAATGTCAAAAAAAATGT	0.299																																							uc002yip.1		NA																	0				ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(535-537)TTTfs		transmembrane phosphatase with tensin homology							157.0	168.0	164.0					21																	10944697		2203	4300	6503	SO:0001589	frameshift_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10944697delA	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.537delT	21.37:g.10944697delA	ENSP00000355208:p.Phe179fs					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Frame_Shift_Del_p.F161fs|TPTE_uc002yir.1_Frame_Shift_Del_p.F141fs|TPTE_uc010gkv.1_Frame_Shift_Del_p.F41fs	p.F179fs	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	11	905	-			179			Helical; (Potential).		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Frame_Shift_Del	DEL	ENST00000361285.4	37	c.537delT	CCDS13560.2																																																																																				0.299	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			7	316	NA	NA	NA	NA	NA	7	316	---	---	---	---
