#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	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_Description	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_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_AccessionNumbers	i_HGNC_CCDS IDs	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_Genefamilydescription	i_HGNC_HGNC ID	i_HGNC_HGNCID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_Name Synonyms	i_HGNC_NameSynonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_PubmedIDs	i_HGNC_Record Type	i_HGNC_RecordType	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGA IDs	i_HGNC_VEGAIDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	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_Region	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_init_n_lod	i_init_t_lod	i_n_alt_count	i_n_alt_count_full	i_n_ref_count	i_n_ref_count_full	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_lod_fstar	i_t_lod_fstar_full	i_t_ref_count_full	i_tumor_f_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	tumor_f
SNAP91	9892	broad.mit.edu	37	6	84291979	84291979	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr6:84291979G>A	ENST00000439399.2	-	23	2427	c.2111C>T	c.(2110-2112)aCg>aTg	p.T704M	SNAP91_ENST00000437520.1_Missense_Mutation_p.T397M|SNAP91_ENST00000428679.2_Missense_Mutation_p.T704M|SNAP91_ENST00000520213.1_Missense_Mutation_p.T397M|SNAP91_ENST00000521743.1_Missense_Mutation_p.T704M|SNAP91_ENST00000195649.6_Missense_Mutation_p.T704M|SNAP91_ENST00000369694.2_Missense_Mutation_p.T704M|SNAP91_ENST00000520302.1_Missense_Mutation_p.T674M|SNAP91_ENST00000521485.1_Missense_Mutation_p.T704M|SNAP91_ENST00000519133.1_5'Flank	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	704					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		AGTTGAAGGCGTTGTCCCAAA	0.468																																						ENST00000428679.2											0			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(2110-2112)aCg>aTg	synaptosomal-associated protein, 91kDa						86.0	88.0	87.0					6																	84291979		1979	4179	6158	SO:0001583	missense	9892			clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	g.chr6:84291979G>A	AB014556	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609	ENSG00000065609	ENSG00000065609				14986	14986	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607923	607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""		"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	9734811, 12493563, 10436022	Standard	Standard	NM_014841	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	uc003pka.3	O60641	O60641	OTTHUMG00000015114	OTTHUMG00000015114	ENST00000439399.2:c.2111C>T	6.37:g.84291979G>A	ENSP00000400459:p.Thr704Met		SNAP91_ENST00000369694.2_Missense_Mutation_p.T704M|SNAP91_ENST00000520213.1_Missense_Mutation_p.T397M|SNAP91_ENST00000439399.2_Missense_Mutation_p.T704M|SNAP91_ENST00000195649.6_Missense_Mutation_p.T704M|SNAP91_ENST00000521485.1_Missense_Mutation_p.T704M|SNAP91_ENST00000437520.1_Missense_Mutation_p.T397M|SNAP91_ENST00000520302.1_Missense_Mutation_p.T674M|SNAP91_ENST00000521743.1_Missense_Mutation_p.T704M	p.T704M			O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	23	2704	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	704		A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	ENST00000439399.2	37	c.2111C>T	CCDS47455.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.022845	0.75275	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000523448;ENST00000521931	T;T;T;T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.43	5.43	0.79202	5.43	5.43	0.79202	.	0.348037	0.30159	N	0.010276	T	0.27629	0.0679	N	0.19112	0.55	0.24748	N	0.992998	P;D;D;D;D	0.89917	0.923;1.0;1.0;1.0;1.0	B;D;D;P;D	0.71870	0.198;0.975;0.964;0.904;0.964	T	0.15723	-1.0427	10	0.87932	D	0	-5.1581	14.1174	0.65164	0.0:0.0:0.8498:0.1502	.	585;397;674;704;702	B7Z2N2;O60641-3;E5RI02;O60641;E1P549	.;.;.;AP180_HUMAN;.	M	704;704;704;704;704;397;674;704;397;45;517	ENSP00000429776:T704M;ENSP00000358708:T704M;ENSP00000400459:T704M;ENSP00000195649:T704M;ENSP00000412492:T704M;ENSP00000413277:T397M;ENSP00000428511:T674M;ENSP00000428215:T704M;ENSP00000428026:T397M;ENSP00000430255:T45M;ENSP00000430071:T517M	ENSP00000195649:T704M	T	-	2	0	0	SNAP91	84348698	84348698	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.315000	0.65810	2.564000	0.86499	0.561000	0.74099	ACG		0.468	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1		50.465699	-24	-24	54	54			17	50.963349	50.963349	27	0.386364	0	0	0	1	0	17	27	0.386364
LRP1B	53353	broad.mit.edu	37	2	141092048	141092048	+	Missense_Mutation	SNP	A	A	G			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr2:141092048A>G	ENST00000389484.3	-	79	13168	c.12197T>C	c.(12196-12198)gTa>gCa	p.V4066A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4066					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTTCTTTTGTACTAAAATCCT	0.403										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3											0			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(12196-12198)gTa>gCa	low density lipoprotein receptor-related protein 1B						177.0	162.0	167.0					2																	141092048		2203	4300	6503	SO:0001583	missense	53353			protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141092048A>G	AF176832	AF176832	CCDS2182.1	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702	ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	"""Low density lipoprotein receptors"""	6693	6693	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	"""LRP-deleted in tumors"""	608766	608766						10766186	10766186	Standard	Standard	NM_018557	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	uc002tvj.1	Q9NZR2	Q9NZR2	OTTHUMG00000131799	OTTHUMG00000131799	ENST00000389484.3:c.12197T>C	2.37:g.141092048A>G	ENSP00000374135:p.Val4066Ala			p.V4066A	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	79	13168	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4066		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.12197T>C	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	27.1|27.1	4.796568|4.796568	0.90453|0.90453	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977	D|.	0.96011|.	-3.88|.	6.08|6.08	6.08|6.08	0.98989|0.98989	6.08|6.08	6.08|6.08	0.98989|0.98989	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);|.	0.381500|.	0.24359|.	N|.	0.039212|.	T|T	0.67477|0.67477	0.2897|0.2897	L|L	0.56769|0.56769	1.78|1.78	0.37120|0.37120	D|D	0.900784|0.900784	P|.	0.39044|.	0.656|.	B|.	0.37550|.	0.253|.	T|T	0.70085|0.70085	-0.4969|-0.4969	10|5	0.36615|.	T|.	0.2|.	.|.	16.6512|16.6512	0.85203|0.85203	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	4066|.	Q9NZR2|.	LRP1B_HUMAN|.	A|H	4066;4004|298	ENSP00000374135:V4066A|.	ENSP00000374135:V4066A|.	V|Y	-|-	2|1	0|0	0|0	LRP1B|LRP1B	140808518|140808518	140808518|140808518	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.837000|8.837000	0.92110|0.92110	2.333000|2.333000	0.79357|0.79357	0.482000|0.482000	0.46254|0.46254	GTA|TAC		0.403	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2		74.648766	4	4	54	54	NM_018557		22	74.667596	74.667596	24	0.478261	0	0	0	1	0	22	24	0.478261
PTPMT1	114971	broad.mit.edu	37	11	47591272	47591272	+	Silent	SNP	C	C	T			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr11:47591272C>T	ENST00000326674.9	+	3	298	c.276C>T	c.(274-276)gtC>gtT	p.V92V	PTPMT1_ENST00000527079.2_3'UTR|PTPMT1_ENST00000534775.1_Nonsense_Mutation_p.R129*|NDUFS3_ENST00000533507.1_Intron|PTPMT1_ENST00000326656.8_Intron|PTPMT1_ENST00000426530.2_Intron	NM_175732.2	NP_783859.1	Q8WUK0	PTPM1_HUMAN	protein tyrosine phosphatase, mitochondrial 1	92					cardiolipin biosynthetic process (GO:0032049)|glycerophospholipid biosynthetic process (GO:0046474)|inositol phosphate dephosphorylation (GO:0046855)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatidylglycerophosphatase activity (GO:0008962)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	6						GACTAGGAGTCGAGCAGCTGC	0.522																																						ENST00000534775.1											0			breast(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	6						c.(385-387)Cga>Tga	protein tyrosine phosphatase, mitochondrial 1						64.0	66.0	65.0					11																	47591272		1966	4167	6133	SO:0001819	synonymous_variant	114971			inositol phosphate dephosphorylation	mitochondrial inner membrane	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:47591272C>T	BC014048	BC014048	CCDS41643.1, CCDS44593.1	CCDS41643.1, CCDS44593.1	11p11.2	2011-06-09			2011-06-09			ENSG00000110536	ENSG00000110536	ENSG00000110536	ENSG00000110536	3.1.3.36	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	26965	26965	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609538	609538						12477932	12477932	Standard	Standard	NM_175732	NM_175732		Approved	PLIP, DUSP23, MOSP	uc001nfs.4	uc001nfs.4	Q8WUK0	Q8WUK0	OTTHUMG00000166892	OTTHUMG00000166892	ENST00000326674.9:c.276C>T	11.37:g.47591272C>T			PTPMT1_ENST00000527079.2_3'UTR|PTPMT1_ENST00000326656.8_Intron|PTPMT1_ENST00000426530.2_Intron|NDUFS3_ENST00000533507.1_Intron|PTPMT1_ENST00000326674.9_Silent_p.V92V	p.R129*			Q8WUK0	PTPM1_HUMAN			2	550	+			0	Tyrosine-protein phosphatase.	E9PAT8|Q7Z557|Q96CR2|Q9BXV8	Nonsense_Mutation	SNP	ENST00000326674.9	37	c.385C>T	CCDS41643.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.111195	0.56398	.	.	ENSG00000110536	ENST00000534775	.	.	.	5.2	-10.4	0.00318	5.2	-10.4	0.00318	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.8019	5.9036	0.18980	0.1222:0.3998:0.3765:0.1016	.	.	.	.	X	129	.	ENSP00000436160:R129X	R	+	1	2	2	PTPMT1	47547848	47547848	0.007000	0.16637	0.438000	0.26821	0.935000	0.57460	-1.465000	0.02357	-2.418000	0.00566	-0.379000	0.06801	CGA		0.522	PTPMT1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391746.1		28.944805	-21	-21	29	29	XM_374879		10	29.163465	29.163465	15	0.400000	0	0	0	1	0	10	15	0.4
OPRM1	4988	broad.mit.edu	37	6	154411258	154411258	+	Silent	SNP	C	C	T			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr6:154411258C>T	ENST00000330432.7	+	2	825	c.588C>T	c.(586-588)ctC>ctT	p.L196L	OPRM1_ENST00000360422.4_Silent_p.L196L|OPRM1_ENST00000419506.2_Silent_p.L196L|OPRM1_ENST00000434900.2_Silent_p.L289L|OPRM1_ENST00000452687.2_Silent_p.L196L|OPRM1_ENST00000520708.1_Silent_p.L96L|OPRM1_ENST00000524163.1_Silent_p.L196L|OPRM1_ENST00000337049.4_Silent_p.L196L|OPRM1_ENST00000522555.1_Silent_p.L96L|OPRM1_ENST00000229768.5_Silent_p.L196L|OPRM1_ENST00000414028.2_Silent_p.L196L|OPRM1_ENST00000522236.1_Silent_p.L96L|OPRM1_ENST00000428397.2_Silent_p.L196L|OPRM1_ENST00000435918.2_Silent_p.L196L|OPRM1_ENST00000518759.1_Silent_p.L115L	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	196					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	ACTGGATCCTCTCTTCAGCCA	0.473																																						ENST00000414028.2											0			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(586-588)ctC>ctT	opioid receptor, mu 1						138.0	130.0	132.0					6																	154411258		2025	4217	6242	SO:0001819	synonymous_variant	4988			behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	g.chr6:154411258C>T	L29301	L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			2012-08-08			ENSG00000112038	ENSG00000112038	ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	"""GPCR / Class A : Opioid receptors"""	8156	8156	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600018	600018								Standard	Standard	NM_001145285	NM_001145285		Approved	MOR1	uc003qpo.1	uc003qpo.1	P35372	P35372	OTTHUMG00000015870	OTTHUMG00000015870	ENST00000330432.7:c.588C>T	6.37:g.154411258C>T			OPRM1_ENST00000419506.2_Silent_p.L196L|OPRM1_ENST00000520708.1_Silent_p.L96L|OPRM1_ENST00000229768.5_Silent_p.L196L|OPRM1_ENST00000522555.1_Silent_p.L96L|OPRM1_ENST00000452687.2_Silent_p.L196L|OPRM1_ENST00000428397.2_Silent_p.L196L|OPRM1_ENST00000330432.7_Silent_p.L196L|OPRM1_ENST00000434900.2_Silent_p.L289L|OPRM1_ENST00000337049.4_Silent_p.L196L|OPRM1_ENST00000435918.2_Silent_p.L196L|OPRM1_ENST00000518759.1_Silent_p.L115L|OPRM1_ENST00000522236.1_Silent_p.L96L|OPRM1_ENST00000360422.4_Silent_p.L196L|OPRM1_ENST00000524163.1_Silent_p.L196L	p.L196L	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	2	638	+		Ovarian(120;0.196)	196		B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Silent	SNP	ENST00000330432.7	37	c.588C>T	CCDS55070.1																																																																																									0.473	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2		77.686362	14	14	105	105	NM_000914		25	77.980371	77.980371	34	0.423729	0	0	0	1	0	25	34	0.423729
CACNA2D1	781	broad.mit.edu	37	7	81978919	81978919	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr7:81978919C>T	ENST00000356253.5	-	2	397	c.142G>A	c.(142-144)Gca>Aca	p.A48T	CACNA2D1_ENST00000423588.1_Missense_Mutation_p.A48T|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.A48T			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	48					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.A48S(2)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	GCTGTTTTTGCCAGTGTGACA	0.358																																						ENST00000356860.3											2	Substitution - Missense(2)	lung(2)	breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(142-144)Gca>Aca	calcium channel, voltage-dependent, alpha 2/delta subunit 1						210.0	194.0	199.0					7																	81978919		2203	4300	6503	SO:0001583	missense	781				voltage-gated calcium channel complex	metal ion binding	g.chr7:81978919C>T	M76559	M76559	CCDS5598.1	CCDS5598.1	7q21-q22	2014-09-17			2014-09-17			ENSG00000153956	ENSG00000153956	ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	"""Calcium channel subunits"""	1399	1399	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			114204	114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	8188232	Standard	Standard	XM_005250570	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	uc003uhr.1	P54289	P54289	OTTHUMG00000023622	OTTHUMG00000023622	ENST00000356253.5:c.142G>A	7.37:g.81978919C>T	ENSP00000348589:p.Ala48Thr		CACNA2D1_ENST00000356253.5_Missense_Mutation_p.A48T|CACNA2D1_ENST00000423588.1_Missense_Mutation_p.A48T	p.A48T	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN			2	480	-			48		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.142G>A		.	.	.	.	.	.	.	.	.	.	C	17.05	3.289623	0.59976	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000423588	T;T;T	0.24908	3.15;3.15;1.83	6.01	6.01	0.97437	6.01	6.01	0.97437	.	0.000000	0.64402	D	0.000001	T	0.31765	0.0807	L	0.56769	1.78	0.80722	D	1	B	0.18741	0.03	B	0.17979	0.02	T	0.02751	-1.1115	10	0.51188	T	0.08	-18.9022	19.3532	0.94398	0.0:1.0:0.0:0.0	.	48	P54289-2	.	T	48	ENSP00000349320:A48T;ENSP00000348589:A48T;ENSP00000405395:A48T	ENSP00000284088:A48T	A	-	1	0	0	CACNA2D1	81816855	81816855	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.319000	0.65835	2.873000	0.98535	0.644000	0.83932	GCA		0.358	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding			-21.711510	28	28	166	166			4	7.655678	7.655678	119	0.032520	0	0	0	1	0	4	119	0.03252
MPP3	4356	broad.mit.edu	37	17	41879154	41879154	+	Missense_Mutation	SNP	A	A	C			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr17:41879154A>C	ENST00000398389.4	-	20	1838	c.1673T>G	c.(1672-1674)cTc>cGc	p.L558R	MPP3_ENST00000398393.1_Missense_Mutation_p.L583R	NM_001932.4	NP_001923.2	Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	558	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	guanylate kinase activity (GO:0004385)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		GGCACCCTGGAGATCCTCCTT	0.552																																						ENST00000398393.1											0			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26						c.(1747-1749)cTc>cGc	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)						111.0	105.0	107.0					17																	41879154		1939	4151	6090	SO:0001583	missense	4356			signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity	g.chr17:41879154A>C			CCDS42344.1	CCDS42344.1	17q12-q21	2008-07-18			2008-07-18			ENSG00000161647	ENSG00000161647	ENSG00000161647	ENSG00000161647				7221	7221	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 3"", ""discs, large (Drosophila) homolog 3"", ""membrane protein palmitoylated 3"""	"""MAGUK p55 subfamily member 3"", ""discs, large (Drosophila) homolog 3"", ""membrane protein palmitoylated 3"""	601114	601114		DLG3		DLG3		8824795	8824795	Standard	Standard	NR_003562	NR_003562		Approved		uc002iei.4	uc002iei.4	Q13368	Q13368	OTTHUMG00000133838	OTTHUMG00000133838	ENST00000398389.4:c.1673T>G	17.37:g.41879154A>C	ENSP00000381425:p.Leu558Arg		MPP3_ENST00000398389.4_Missense_Mutation_p.L558R	p.L583R			Q13368	MPP3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.119)	18	2008	-		Breast(137;0.00394)	558		B2R7N0|D3DX47|Q4GX05|Q6PGR3|Q86SV1	Missense_Mutation	SNP	ENST00000398389.4	37	c.1748T>G	CCDS42344.1	.	.	.	.	.	.	.	.	.	.	A	18.86	3.712694	0.68730	.	.	ENSG00000161647	ENST00000398393;ENST00000398389	T;T	0.55930	0.49;0.49	5.42	5.42	0.78866	5.42	5.42	0.78866	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.267510	0.37623	N	0.002001	T	0.74794	0.3763	M	0.90870	3.155	0.47994	D	0.999567	D;D	0.53151	0.958;0.958	P;P	0.60345	0.873;0.873	T	0.80928	-0.1163	10	0.87932	D	0	.	13.0831	0.59125	1.0:0.0:0.0:0.0	.	558;583	Q13368;D3DX46	MPP3_HUMAN;.	R	583;558	ENSP00000381430:L583R;ENSP00000381425:L558R	ENSP00000381425:L558R	L	-	2	0	0	MPP3	39234680	39234680	1.000000	0.71417	0.981000	0.43875	0.917000	0.54804	5.137000	0.64789	2.280000	0.76307	0.460000	0.39030	CTC		0.552	MPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258371.1		99.929284	-17	-17	102	102	NM_001932		34	100.522527	100.522527	49	0.409639	0	0	0	1	0	34	49	0.409639
FES	2242	broad.mit.edu	37	15	91433097	91433097	+	Silent	SNP	T	T	G			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr15:91433097T>G	ENST00000328850.3	+	8	1096	c.954T>G	c.(952-954)gcT>gcG	p.A318A	FES_ENST00000448367.1_3'UTR|FES_ENST00000394302.1_Silent_p.A260A|FES_ENST00000444422.2_Silent_p.A318A|FES_ENST00000414248.2_Silent_p.A260A|FES_ENST00000394300.3_Silent_p.A260A|FES_ENST00000450438.2_Silent_p.A260A	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	318					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			ATGAGCTGGCTGTGGCCACCG	0.617																																						ENST00000328850.3											0			lung(2)|ovary(1)	3						c.(952-954)gcT>gcG	feline sarcoma oncogene						108.0	113.0	111.0					15																	91433097		2198	4298	6496	SO:0001819	synonymous_variant	2242			axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:91433097T>G	X52192	X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	ENSG00000182511	ENSG00000182511	2.7.10.1	"""SH2 domain containing"""	"""SH2 domain containing"""	3657	3657	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""Oncogene FES, feline sarcoma virus"", ""c-fes/fps protein"""	"""Oncogene FES, feline sarcoma virus"", ""c-fes/fps protein"""	190030	190030	"""feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog"", ""feline sarcoma oncogene"""		"""feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog"", ""feline sarcoma oncogene"""			1870997	1870997	Standard	Standard	NM_002005	NM_002005		Approved	FPS	uc002bpv.3	uc002bpv.3	P07332	P07332	OTTHUMG00000044456	OTTHUMG00000044456	ENST00000328850.3:c.954T>G	15.37:g.91433097T>G			FES_ENST00000414248.2_Silent_p.A260A|FES_ENST00000448367.1_3'UTR|FES_ENST00000394302.1_Silent_p.A260A|FES_ENST00000394300.3_Silent_p.A260A|FES_ENST00000450438.2_Silent_p.A260A|FES_ENST00000444422.2_Silent_p.A318A	p.A318A	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	Lung(145;0.229)		8	1096	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		318		B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Silent	SNP	ENST00000328850.3	37	c.954T>G	CCDS10365.1																																																																																									0.617	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313497.1		-1.456921	15	15	140	140	NM_002005		8	10.883606	10.883606	70	0.102564	0	0	0	1	0	8	70	0.102564
PCDHGB1	56104	broad.mit.edu	37	5	140730154	140730154	+	Missense_Mutation	SNP	C	C	A			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr5:140730154C>A	ENST00000523390.1	+	1	327	c.327C>A	c.(325-327)aaC>aaA	p.N109K	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	109	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGCTGAAAACCCAATGAATG	0.423																																						ENST00000523390.1											0			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16						c.(325-327)aaC>aaA							65.0	64.0	64.0					5																	140730154		1867	4112	5979	SO:0001583	missense	0						g.chr5:140730154C>A	AF152517	AF152517	CCDS54923.1, CCDS75330.1	CCDS54923.1, CCDS75330.1	5q31	2010-01-26			2010-01-26				ENSG00000254221		ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	"""Cadherins / Protocadherins : Clustered"""	8708	8708	other	protocadherin	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299	606299						10380929	10380929	Standard	Standard	NM_018922	NM_018922		Approved	PCDH-GAMMA-B1			Q9Y5G3	Q9Y5G3			ENST00000523390.1:c.327C>A	5.37:g.140730154C>A	ENSP00000429273:p.Asn109Lys		PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	p.N109K	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	327	+					Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	c.327C>A	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	12.32	1.901247	0.33535	.	.	ENSG00000254221	ENST00000523390	T	0.28255	1.62	5.46	-4.25	0.03766	5.46	-4.25	0.03766	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.31702	0.0805	L	0.55743	1.74	0.24380	N	0.994793	B;B	0.25351	0.124;0.041	B;B	0.33121	0.149;0.158	T	0.44236	-0.9341	9	0.48119	T	0.1	.	14.9572	0.71124	0.0:0.279:0.0:0.721	.	109;109	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	K	109	ENSP00000429273:N109K	ENSP00000429273:N109K	N	+	3	2	2	PCDHGB1	140710338	140710338	0.011000	0.17503	0.883000	0.34634	0.771000	0.43674	-1.126000	0.03254	-0.720000	0.04935	-0.251000	0.11542	AAC		0.423	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1		3.002575	-11	-11	54	54	NM_018922		3	7.543567	7.543567	26	0.103448	1	0	0.115264	1	0.119106	3	26	0.103448
TBX6	6911	broad.mit.edu	37	16	30099934	30099934	+	Missense_Mutation	SNP	G	G	C			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr16:30099934G>C	ENST00000395224.2	-	6	830	c.771C>G	c.(769-771)atC>atG	p.I257M	TBX6_ENST00000553607.1_Missense_Mutation_p.I257M|TBX6_ENST00000279386.2_Missense_Mutation_p.I257M	NM_004608.3	NP_004599.2	O95947	TBX6_HUMAN	T-box 6	257					anatomical structure morphogenesis (GO:0009653)|cell fate specification (GO:0001708)|mesoderm development (GO:0007498)|mesoderm formation (GO:0001707)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						TCAGTTGTGTGATCTGGGGAC	0.542																																						ENST00000553607.1											0			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						c.(769-771)atC>atG	T-box 6						144.0	139.0	141.0					16																	30099934		2197	4300	6497	SO:0001583	missense	6911			anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:30099934G>C	AJ007989	AJ007989	CCDS10670.1	CCDS10670.1	16p11.2	2008-02-05			2008-02-05			ENSG00000149922	ENSG00000149922	ENSG00000149922	ENSG00000149922		"""T-boxes"""	"""T-boxes"""	11605	11605	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602427	602427						9888994, 9933572	9888994, 9933572	Standard	Standard	NM_004608	NM_004608		Approved		uc010veh.2	uc010veh.2	O95947	O95947	OTTHUMG00000132115	OTTHUMG00000132115	ENST00000395224.2:c.771C>G	16.37:g.30099934G>C	ENSP00000378650:p.Ile257Met		TBX6_ENST00000395224.2_Missense_Mutation_p.I257M|TBX6_ENST00000279386.2_Missense_Mutation_p.I257M	p.I257M			O95947	TBX6_HUMAN			5	1464	-			257		Q8TAS4|Q9HA44	Missense_Mutation	SNP	ENST00000395224.2	37	c.771C>G	CCDS10670.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635402	0.87760	.	.	ENSG00000149922	ENST00000395224;ENST00000279386;ENST00000553607	D;D;D	0.91068	-2.78;-2.78;-2.78	5.95	5.95	0.96441	5.95	5.95	0.96441	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.95850	0.8649	M	0.83603	2.65	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.999;0.999	D	0.95770	0.8808	10	0.87932	D	0	.	19.1503	0.93485	0.0:0.0:1.0:0.0	.	257;257	O95947;Q9HA44	TBX6_HUMAN;.	M	257	ENSP00000378650:I257M;ENSP00000279386:I257M;ENSP00000461223:I257M	ENSP00000279386:I257M	I	-	3	3	3	TBX6	30007435	30007435	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.596000	0.67570	2.826000	0.97356	0.563000	0.77884	ATC		0.542	TBX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255157.2		134.339667	20	20	146	146	NM_004608, NM_080758		42	134.42682	134.426820	48	0.466667	0	0	0	1	0	42	48	0.466667
GOLGA4	2803	broad.mit.edu	37	3	37368986	37368986	+	Missense_Mutation	SNP	A	A	C			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr3:37368986A>C	ENST00000361924.2	+	14	5983	c.5609A>C	c.(5608-5610)cAt>cCt	p.H1870P	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.H1892P	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1870	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AAAGAAGTACATAGAGTTGAA	0.383																																						ENST00000361924.2											0			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(5608-5610)cAt>cCt	golgin A4						57.0	59.0	58.0					3																	37368986		2203	4299	6502	SO:0001583	missense	2803			Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37368986A>C	U31906	U31906	CCDS2666.1, CCDS54564.1	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674	ENSG00000144674	ENSG00000144674				4427	4427	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""golgin 245"""	"""golgin 245"""	602509	602509	"""golgi autoantigen, golgin subfamily a, 4"""		"""golgi autoantigen, golgin subfamily a, 4"""			8626529	8626529	Standard	Standard	NM_002078	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	uc003cgw.3	Q13439	Q13439	OTTHUMG00000130799	OTTHUMG00000130799	ENST00000361924.2:c.5609A>C	3.37:g.37368986A>C	ENSP00000354486:p.His1870Pro		GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.H1892P	p.H1870P	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN			14	5983	+			1870	Glu-rich.	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	c.5609A>C	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	A	9.519	1.107829	0.20714	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.23754	1.9;1.89;1.89	5.11	2.58	0.30949	5.11	2.58	0.30949	.	0.000000	0.34932	N	0.003568	T	0.22282	0.0537	L	0.57536	1.79	0.09310	N	1	B;B;B;B	0.28820	0.224;0.125;0.063;0.021	B;B;B;B	0.28991	0.097;0.054;0.027;0.007	T	0.09292	-1.0681	10	0.30854	T	0.27	.	8.0355	0.30491	0.672:0.1144:0.0:0.2136	.	1870;1870;1892;1870	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	P	1870;1892;1741	ENSP00000354486:H1870P;ENSP00000349305:H1892P;ENSP00000405842:H1741P	ENSP00000349305:H1892P	H	+	2	0	0	GOLGA4	37343990	37343990	0.001000	0.12720	0.305000	0.25099	0.963000	0.63663	0.532000	0.23067	1.931000	0.55961	0.448000	0.29417	CAT		0.383	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2		83.714846	-9	-9	59	59	NM_002078		24	85.251639	85.251639	9	0.727273	0	0	0	1	0	24	9	0.727273
TMEM39A	55254	broad.mit.edu	37	3	119155786	119155786	+	Missense_Mutation	SNP	G	G	C			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr3:119155786G>C	ENST00000319172.5	-	7	1384	c.964C>G	c.(964-966)Ctc>Gtc	p.L322V	TMEM39A_ENST00000486159.1_5'Flank	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	322						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		ACCATAATGAGGTGCTCACAT	0.468																																						ENST00000319172.5											0			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13						c.(964-966)Ctc>Gtc	transmembrane protein 39A						241.0	216.0	224.0					3																	119155786		2203	4300	6503	SO:0001583	missense	55254				integral to membrane		g.chr3:119155786G>C	BC021277	BC021277	CCDS2987.1	CCDS2987.1	3q13.33	2005-01-10			2005-01-10			ENSG00000176142	ENSG00000176142	ENSG00000176142	ENSG00000176142				25600	25600	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_018266	NM_018266		Approved	FLJ10902	uc003eck.2	uc003eck.2	Q9NV64	Q9NV64	OTTHUMG00000159361	OTTHUMG00000159361	ENST00000319172.5:c.964C>G	3.37:g.119155786G>C	ENSP00000326063:p.Leu322Val			p.L322V	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN		GBM - Glioblastoma multiforme(114;0.244)	7	1384	-			322		D3DN80|Q53FN4|Q53GI1|Q6PKB5	Missense_Mutation	SNP	ENST00000319172.5	37	c.964C>G	CCDS2987.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.765116	0.49574	.	.	ENSG00000176142	ENST00000319172	T	0.44482	0.92	5.16	5.16	0.70880	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.51398	0.1672	L	0.34521	1.04	0.80722	D	1	D	0.65815	0.995	P	0.61533	0.89	T	0.44050	-0.9353	10	0.39692	T	0.17	-10.2264	17.8168	0.88637	0.0:0.0:1.0:0.0	.	322	Q9NV64	TM39A_HUMAN	V	322	ENSP00000326063:L322V	ENSP00000326063:L322V	L	-	1	0	0	TMEM39A	120638476	120638476	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.171000	0.64996	2.692000	0.91855	0.650000	0.86243	CTC		0.468	TMEM39A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354941.3		95.954622	38	38	178	178	NM_018266		33	96.799544	96.799544	51	0.392857	0	0	0	1	0	33	51	0.392857
CD4	920	broad.mit.edu	37	12	6923368	6923368	+	Missense_Mutation	SNP	T	T	C			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr12:6923368T>C	ENST00000011653.4	+	4	533	c.275T>C	c.(274-276)tTt>tCt	p.F92S	CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Missense_Mutation_p.F37S	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	92	Ig-like V-type.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	CAAGGAAACTTTCCCCTGATC	0.498																																						ENST00000011653.4											0			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23						c.(274-276)tTt>tCt	CD4 molecule						141.0	137.0	138.0					12																	6923368		2203	4300	6503	SO:0001583	missense	920			cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	g.chr12:6923368T>C	M35160	M35160	CCDS8562.1	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610	ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	1678	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			186940	186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""		"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""					Standard	Standard	NM_000616	NM_000616		Approved		uc001qqv.2	uc001qqv.2	P01730	P01730	OTTHUMG00000168514	OTTHUMG00000168514	ENST00000011653.4:c.275T>C	12.37:g.6923368T>C	ENSP00000011653:p.Phe92Ser		CD4_ENST00000541982.1_Missense_Mutation_p.F37S|CD4_ENST00000538827.1_3'UTR	p.F92S	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN			4	533	+		Myeloproliferative disorder(1001;0.0122)	92	Ig-like V-type.	B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Missense_Mutation	SNP	ENST00000011653.4	37	c.275T>C	CCDS8562.1	.	.	.	.	.	.	.	.	.	.	T	14.35	2.510235	0.44660	.	.	ENSG00000010610	ENST00000011653;ENST00000541982	T;T	0.68765	-0.35;-0.35	5.32	5.32	0.75619	5.32	5.32	0.75619	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.861493	0.10180	N	0.705942	T	0.79975	0.4539	M	0.64260	1.97	0.37698	D	0.924097	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77838	-0.2439	10	0.66056	D	0.02	1.5086	11.6738	0.51417	0.0:0.0:0.0:1.0	.	37;92	F5H480;P01730	.;CD4_HUMAN	S	92;37	ENSP00000011653:F92S;ENSP00000445167:F37S	ENSP00000011653:F92S	F	+	2	0	0	CD4	6793629	6793629	0.684000	0.27642	0.077000	0.20336	0.005000	0.04900	1.456000	0.35201	2.012000	0.59069	0.379000	0.24179	TTT		0.498	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1		124.976002	-15	-15	117	117	NM_000616		37	124.976002	124.976002	37	0.500000	0	0	0	1	0	37	37	0.5
VASH2	79805	broad.mit.edu	37	1	213146004	213146004	+	Missense_Mutation	SNP	G	G	T			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr1:213146004G>T	ENST00000517399.1	+	5	580	c.580G>T	c.(580-582)Gtt>Ttt	p.V194F	VASH2_ENST00000366965.2_Missense_Mutation_p.V150F|VASH2_ENST00000366968.4_Missense_Mutation_p.V129F|VASH2_ENST00000271776.4_3'UTR|VASH2_ENST00000366964.3_Missense_Mutation_p.V52F|VASH2_ENST00000366966.2_Missense_Mutation_p.V129F|VASH2_ENST00000366967.2_Missense_Mutation_p.V90F			Q86V25	VASH2_HUMAN	vasohibin 2	194					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)	cytoplasm (GO:0005737)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		CTTTCACCACGTTGTGCTGGG	0.498																																						ENST00000366968.4											0			endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(385-387)Gtt>Ttt	vasohibin 2						114.0	106.0	109.0					1																	213146004		2203	4300	6503	SO:0001583	missense	79805			positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	cytoplasm		g.chr1:213146004G>T	AK022567	AK022567	CCDS1511.1, CCDS44315.1, CCDS44316.1, CCDS73026.1	CCDS1511.1, CCDS44315.1, CCDS44316.1, CCDS73026.1	1q23	2008-02-05			2008-02-05			ENSG00000143494	ENSG00000143494	ENSG00000143494	ENSG00000143494				25723	25723	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610471	610471						16528006	16528006	Standard	Standard	XR_247041	XR_247041		Approved	FLJ12505	uc001hjw.3	uc001hjw.3	Q86V25	Q86V25	OTTHUMG00000036925	OTTHUMG00000036925	ENST00000517399.1:c.580G>T	1.37:g.213146004G>T	ENSP00000428324:p.Val194Phe		VASH2_ENST00000366966.2_Missense_Mutation_p.V129F|VASH2_ENST00000366967.2_Missense_Mutation_p.V90F|VASH2_ENST00000517399.1_Missense_Mutation_p.V194F|VASH2_ENST00000366965.2_Missense_Mutation_p.V150F|VASH2_ENST00000271776.4_3'UTR|VASH2_ENST00000366964.3_Missense_Mutation_p.V52F	p.V129F	NM_001136474.1	NP_001129946.1	Q86V25	VASH2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)	7	735	+			194		B4DYZ5|Q2VT46|Q5VTE7|Q5VTE9|Q7Z6E3|Q8IZ24|Q9H9W5	Missense_Mutation	SNP	ENST00000517399.1	37	c.385G>T	CCDS1511.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112063	0.77210	.	.	ENSG00000143494	ENST00000366966;ENST00000366964;ENST00000366968;ENST00000366965;ENST00000366967;ENST00000517399	.	.	.	5.26	5.26	0.73747	5.26	5.26	0.73747	.	0.064020	0.64402	D	0.000008	T	0.76821	0.4041	L	0.59436	1.845	0.58432	D	0.999997	D;D	0.71674	0.994;0.998	P;D	0.68483	0.889;0.958	T	0.78682	-0.2109	9	0.87932	D	0	-14.1987	19.2409	0.93883	0.0:0.0:1.0:0.0	.	194;150	Q86V25;Q86V25-5	VASH2_HUMAN;.	F	129;52;129;150;90;194	.	ENSP00000355931:V52F	V	+	1	0	0	VASH2	211212627	211212627	1.000000	0.71417	0.438000	0.26821	0.871000	0.50021	5.142000	0.64820	2.620000	0.88729	0.655000	0.94253	GTT		0.498	VASH2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381686.1		80.840821	-21	-21	82	82	NM_024749		26	81.130233	81.130233	35	0.426230	1	0	1.17739e-12	1	1.25859e-12	26	35	0.42623
GABBR2	9568	broad.mit.edu	37	9	101304173	101304173	+	Silent	SNP	G	G	A	rs142025089	byFrequency	TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr9:101304173G>A	ENST00000259455.2	-	3	1071	c.612C>T	c.(610-612)gaC>gaT	p.D204D	GABBR2_ENST00000477471.1_5'UTR	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	204					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	ACCTCTGAACGTCTTGCGTCA	0.537													G|||	3	0.000599042	0.0023	0.0	5008	,	,		20246	0.0		0.0	False		,,,				2504	0.0					ENST00000259455.2											0			breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(610-612)gaC>gaT	gamma-aminobutyric acid (GABA) B receptor, 2	G		2,4404	4.2+/-10.8	0,2,2201	156.0	111.0	126.0		612	2.2	1.0	9	dbSNP_134	126	0,8600		0,0,4300	no	coding-synonymous	GABBR2	NM_005458.7		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		204/942	101304173	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9568			negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr9:101304173G>A	AF069755	AF069755	CCDS6736.1	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	4507	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607340	607340	"""G protein-coupled receptor 51"""	GPR51	"""G protein-coupled receptor 51"""	GPR51		10087195	10087195	Standard	Standard	NM_005458	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	uc004ays.3	O75899	O75899	OTTHUMG00000020345	OTTHUMG00000020345	ENST00000259455.2:c.612C>T	9.37:g.101304173G>A			GABBR2_ENST00000477471.1_5'UTR	p.D204D	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN			3	1071	-		Acute lymphoblastic leukemia(62;0.0527)	204		O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Silent	SNP	ENST00000259455.2	37	c.612C>T	CCDS6736.1																																																																																									0.537	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1		34.019960	10	10	44	44			11	34.30105	34.301050	17	0.392857	0	0	0	1	0	11	17	0.392857
PROSER1	80209	broad.mit.edu	37	13	39587518	39587518	+	Missense_Mutation	SNP	T	T	C			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr13:39587518T>C	ENST00000352251.3	-	11	2704	c.1871A>G	c.(1870-1872)cAt>cGt	p.H624R	PROSER1_ENST00000350125.3_Missense_Mutation_p.H602R|PROSER1_ENST00000484434.3_Intron	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	624	Ser-rich.																ATTCCCAGAATGAGATGGACC	0.473																																						ENST00000352251.3											0										c.(1870-1872)cAt>cGt	proline and serine rich 1						150.0	156.0	154.0					13																	39587518		2203	4300	6503	SO:0001583	missense	80209						g.chr13:39587518T>C	AK022723	AK022723	CCDS9368.2	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685	ENSG00000120685	ENSG00000120685				20291	20291	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""chromosome 13 open reading frame 23"""	C13orf23	"""chromosome 13 open reading frame 23"""	C13orf23				Standard	Standard	NM_025138	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	uc001uwy.4	Q86XN7	Q86XN7	OTTHUMG00000016764	OTTHUMG00000016764	ENST00000352251.3:c.1871A>G	13.37:g.39587518T>C	ENSP00000332034:p.His624Arg		PROSER1_ENST00000484434.3_Intron|PROSER1_ENST00000350125.3_Missense_Mutation_p.H602R	p.H624R	NM_025138.4	NP_079414.3	Q86XN7	CM023_HUMAN			11	2704	-			624	Ser-rich.	A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Missense_Mutation	SNP	ENST00000352251.3	37	c.1871A>G	CCDS9368.2	.	.	.	.	.	.	.	.	.	.	T	11.70	1.716919	0.30413	.	.	ENSG00000120685	ENST00000352251;ENST00000350125	T;T	0.44482	0.92;0.92	4.73	2.16	0.27623	4.73	2.16	0.27623	.	.	.	.	.	T	0.39572	0.1083	N	0.19112	0.55	0.40546	D	0.98107	D;B	0.67145	0.996;0.42	D;B	0.77557	0.99;0.087	T	0.35992	-0.9766	8	.	.	.	-4.0017	2.5606	0.04771	0.1513:0.0812:0.1584:0.6091	.	602;624	A6NJ97;Q86XN7	.;PRSR1_HUMAN	R	624;602	ENSP00000332034:H624R;ENSP00000339123:H602R	.	H	-	2	0	0	PROSER1	38485518	38485518	0.988000	0.35896	0.080000	0.20451	0.517000	0.34286	2.001000	0.40825	0.231000	0.21079	0.459000	0.35465	CAT		0.473	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5		136.186620	17	17	127	127	NM_025138		44	136.500214	136.500214	56	0.440000	0	0	0	1	0	44	56	0.44
PTPRD	5789	broad.mit.edu	37	9	8331704	8331704	+	Silent	SNP	C	C	T			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr9:8331704C>T	ENST00000381196.4	-	41	5955	c.5412G>A	c.(5410-5412)caG>caA	p.Q1804Q	PTPRD_ENST00000540109.1_Silent_p.Q1804Q|PTPRD_ENST00000356435.5_Silent_p.Q1804Q|PTPRD_ENST00000397611.3_Silent_p.Q1394Q|PTPRD_ENST00000537002.1_Silent_p.Q1394Q|PTPRD_ENST00000360074.4_Silent_p.Q1791Q|PTPRD_ENST00000358503.5_Silent_p.Q1782Q|PTPRD_ENST00000397606.3_Silent_p.Q1397Q|PTPRD_ENST00000355233.5_Silent_p.Q1398Q|PTPRD_ENST00000486161.1_Silent_p.Q1397Q|PTPRD_ENST00000397617.3_Silent_p.Q1397Q	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1804	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AGTCAGTGAACTGGAACTGCC	0.512										TSP Lung(15;0.13)																												ENST00000381196.4											0			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(5410-5412)caG>caA	protein tyrosine phosphatase, receptor type, D						111.0	105.0	107.0					9																	8331704		2203	4300	6503	SO:0001819	synonymous_variant	5789			transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8331704C>T	X54133	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			2013-02-11			ENSG00000153707	ENSG00000153707	ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	9668	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601598	601598						7896816, 8355697	7896816, 8355697	Standard	Standard	NM_002839	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	uc003zkk.3	P23468	P23468	OTTHUMG00000021005	OTTHUMG00000021005	ENST00000381196.4:c.5412G>A	9.37:g.8331704C>T			PTPRD_ENST00000358503.5_Silent_p.Q1782Q|PTPRD_ENST00000355233.5_Silent_p.Q1398Q|PTPRD_ENST00000486161.1_Silent_p.Q1397Q|PTPRD_ENST00000360074.4_Silent_p.Q1791Q|PTPRD_ENST00000540109.1_Silent_p.Q1804Q|PTPRD_ENST00000356435.5_Silent_p.Q1804Q|PTPRD_ENST00000397606.3_Silent_p.Q1397Q|PTPRD_ENST00000397617.3_Silent_p.Q1397Q|PTPRD_ENST00000397611.3_Silent_p.Q1394Q|PTPRD_ENST00000537002.1_Silent_p.Q1394Q	p.Q1804Q	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	41	5955	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1804	Tyrosine-protein phosphatase 2.	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	ENST00000381196.4	37	c.5412G>A	CCDS43786.1																																																																																									0.512	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3		-2.792682	20	20	181	181			8	18.138882	18.138882	103	0.072072	0	0	0	1	0	8	103	0.072072
CDKN2A	1029	broad.mit.edu	37	9	21974744	21974744	+	Missense_Mutation	SNP	A	A	C			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr9:21974744A>C	ENST00000304494.5	-	1	353	c.83T>G	c.(82-84)gTg>gGg	p.V28G	CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.V28G|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.V28G|CDKN2A_ENST00000361570.3_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.V28G|CDKN2A_ENST00000530628.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	28					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.V28_E33del(2)|p.0(1)|p.V28_V51del(1)|p.V28fs*15(1)|p.R22fs*14(1)|p.V28G(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGCGCCCGCACCTCCTCTAC	0.736		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5											1345	Whole gene deletion(1316)|Unknown(23)|Deletion - In frame(3)|Deletion - Frameshift(2)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(278)|skin(169)|central_nervous_system(163)|lung(146)|urinary_tract(90)|bone(73)|soft_tissue(57)|oesophagus(53)|pleura(52)|upper_aerodigestive_tract(48)|ovary(34)|kidney(31)|breast(30)|pancreas(29)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM024658	CDKN2A	M		c.(82-84)gTg>gGg	cyclin-dependent kinase inhibitor 2A						23.0	30.0	28.0					9																	21974744		1949	3939	5888	SO:0001583	missense	1029			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21974744A>C	L27211	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889	ENSG00000147889	ENSG00000147889				1787	1787	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600160	600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	8152487, 7606716	Standard	Standard	NM_058195	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	uc003zpk.3	P42771	P42771	OTTHUMG00000019686	OTTHUMG00000019686	ENST00000304494.5:c.83T>G	9.37:g.21974744A>C	ENSP00000307101:p.Val28Gly		CDKN2A_ENST00000498124.1_Missense_Mutation_p.V28G|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579755.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.V28G|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.V28G	p.V28G	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	353	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	28		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.83T>G	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.776837	0.90195	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	T;T	0.73152	-0.72;-0.72	4.89	4.89	0.63831	4.89	4.89	0.63831	Ankyrin repeat-containing domain (3);	.	.	.	.	D	0.88540	0.6464	H	0.96208	3.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91605	0.5298	9	0.62326	D	0.03	.	13.8927	0.63750	1.0:0.0:0.0:0.0	.	28;28	P42771;G3XAG3	CD2A1_HUMAN;.	G	28	ENSP00000307101:V28G;ENSP00000394932:V28G	ENSP00000307101:V28G	V	-	2	0	0	CDKN2A	21964744	21964744	0.963000	0.33076	1.000000	0.80357	0.918000	0.54935	4.872000	0.63050	2.165000	0.68154	0.533000	0.62120	GTG		0.736	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1		3.736237	-8	-8	46	46	NM_000077		6	6.977329	6.977329	26	0.187500	0	0	0	1	0	6	26	0.1875
LMTK2	22853	broad.mit.edu	37	7	97821218	97821218	+	Missense_Mutation	SNP	G	G	A	rs144291659		TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr7:97821218G>A	ENST00000297293.5	+	11	1734	c.1441G>A	c.(1441-1443)Gct>Act	p.A481T		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	481					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CTGGGAGGCCGCTAAGCACGA	0.587																																						ENST00000297293.5											0			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(1441-1443)Gct>Act	lemur tyrosine kinase 2	G	THR/ALA	0,4406		0,0,2203	50.0	48.0	49.0		1441	5.9	0.4	7	dbSNP_134	49	2,8598	2.2+/-6.3	0,2,4298	yes	missense	LMTK2	NM_014916.3	58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	481/1504	97821218	2,13004	2203	4300	6503	SO:0001583	missense	22853			early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97821218G>A	AB029002	AB029002	CCDS5654.1	CCDS5654.1	7q22.1	2014-06-12			2014-06-12			ENSG00000164715	ENSG00000164715	ENSG00000164715	ENSG00000164715				17880	17880	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	"""protein phosphatase 1, regulatory subunit 100"""	610989	610989						15005709	15005709	Standard	Standard	NM_014916	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	uc003upd.2	Q8IWU2	Q8IWU2	OTTHUMG00000154256	OTTHUMG00000154256	ENST00000297293.5:c.1441G>A	7.37:g.97821218G>A	ENSP00000297293:p.Ala481Thr			p.A481T	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			11	1734	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		481		A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.1441G>A	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	G	34	5.293719	0.95546	0.0	2.33E-4	ENSG00000164715	ENST00000297293	D	0.85484	-1.99	5.87	5.87	0.94306	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.92401	0.7588	M	0.80183	2.485	0.80722	D	1	D	0.63880	0.993	P	0.62885	0.908	D	0.92507	0.6013	10	0.87932	D	0	.	19.5705	0.95413	0.0:0.0:1.0:0.0	.	481	Q8IWU2	LMTK2_HUMAN	T	481	ENSP00000297293:A481T	ENSP00000297293:A481T	A	+	1	0	0	LMTK2	97659154	97659154	1.000000	0.71417	0.374000	0.26016	0.841000	0.47740	9.420000	0.97426	2.941000	0.99782	0.655000	0.94253	GCT		0.587	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1		2.404561	-5	-5	45	45	NM_014916		3	7.452564	7.452564	28	0.096774	0	0	0	1	0	3	28	0.096774
ERMARD	55780	broad.mit.edu	37	6	170176103	170176103	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr6:170176103C>T	ENST00000366773.3	+	15	1495	c.1462C>T	c.(1462-1464)Cac>Tac	p.H488Y	ERMARD_ENST00000392095.4_Missense_Mutation_p.H362Y|ERMARD_ENST00000588451.1_Missense_Mutation_p.H352Y|ERMARD_ENST00000418781.3_Missense_Mutation_p.H488Y|ERMARD_ENST00000366772.2_Missense_Mutation_p.H488Y	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	488					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											TGAGCTGTATCACCATATGCC	0.378																																						ENST00000588451.1											0										c.(1054-1056)Cac>Tac	ER membrane-associated RNA degradation						154.0	129.0	137.0					6																	170176103		2203	4300	6503	SO:0001583	missense	55780						g.chr6:170176103C>T	AK002014	AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023	ENSG00000130023	ENSG00000130023				21056	21056	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615532	615532	"""chromosome 6 open reading frame 70"""	C6orf70	"""chromosome 6 open reading frame 70"""	C6orf70		23768067	23768067	Standard	Standard	NM_018341	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	uc003qxg.1	Q5T6L9	Q5T6L9	OTTHUMG00000016067	OTTHUMG00000016067	ENST00000366773.3:c.1462C>T	6.37:g.170176103C>T	ENSP00000355735:p.His488Tyr		ERMARD_ENST00000392095.4_Missense_Mutation_p.H362Y|ERMARD_ENST00000366773.3_Missense_Mutation_p.H488Y|ERMARD_ENST00000418781.3_Missense_Mutation_p.H488Y|ERMARD_ENST00000366772.2_Missense_Mutation_p.H488Y	p.H352Y							14	1567	+			488		B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	ENST00000366773.3	37	c.1054C>T	CCDS34576.1	.	.	.	.	.	.	.	.	.	.	.	3.195	-0.165006	0.06502	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781;ENST00000392095;ENST00000366771	T;T	0.44482	0.93;0.92	5.27	2.37	0.29283	5.27	2.37	0.29283	.	1.069390	0.07104	N	0.841062	T	0.14830	0.0358	L	0.53249	1.67	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.003;0.0	T	0.33929	-0.9849	10	0.10636	T	0.68	.	7.6556	0.28373	0.0:0.6445:0.0:0.3555	.	488;488;488	Q5T6L9-3;Q5T6L9-2;Q5T6L9	.;.;CF070_HUMAN	Y	488;488;488;362;136	ENSP00000355735:H488Y;ENSP00000375945:H362Y	ENSP00000355733:H136Y	H	+	1	0	0	C6orf70	169918028	169918028	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.580000	0.05827	0.669000	0.31146	0.558000	0.71614	CAC		0.378	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2		65.543138	-26	-26	77	77	NM_018341		22	65.654343	65.654343	27	0.448980	0	0	0	1	0	22	27	0.44898
PCK2	5106	broad.mit.edu	37	14	24569263	24569263	+	Missense_Mutation	SNP	G	G	A			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr14:24569263G>A	ENST00000216780.4	+	7	1343	c.1075G>A	c.(1075-1077)Gcc>Acc	p.A359T	PCK2_ENST00000396973.4_Missense_Mutation_p.A359T|NRL_ENST00000561028.1_Intron|PCK2_ENST00000558096.1_Missense_Mutation_p.A225T|PCK2_ENST00000545054.2_Missense_Mutation_p.A225T|PCK2_ENST00000559250.1_Missense_Mutation_p.A371T|PCK2_ENST00000561286.1_Missense_Mutation_p.A225T	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	359					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		TGGTACCTCTGCCACCACCAA	0.522																																						ENST00000545054.2											0			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18						c.(673-675)Gcc>Acc	phosphoenolpyruvate carboxykinase 2 (mitochondrial)						115.0	117.0	116.0					14																	24569263		2203	4300	6503	SO:0001583	missense	5106			gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr14:24569263G>A	AK129934	AK129934	CCDS9609.1, CCDS41928.1	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			2006-06-09			ENSG00000100889	ENSG00000100889	ENSG00000100889	ENSG00000100889	4.1.1.32			8725	8725	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614095	614095						8645161, 9657976	8645161, 9657976	Standard	Standard	XM_005267726	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	uc001wlt.3	Q16822	Q16822	OTTHUMG00000028791	OTTHUMG00000028791	ENST00000216780.4:c.1075G>A	14.37:g.24569263G>A	ENSP00000216780:p.Ala359Thr		PCK2_ENST00000396973.4_Missense_Mutation_p.A359T|PCK2_ENST00000216780.4_Missense_Mutation_p.A359T|PCK2_ENST00000561286.1_Missense_Mutation_p.A225T|PCK2_ENST00000558096.1_Missense_Mutation_p.A225T|NRL_ENST00000561028.1_Intron|PCK2_ENST00000559250.1_Missense_Mutation_p.A371T	p.A225T			Q16822	PCKGM_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	7	1591	+			359		O43253|Q86U01|Q9BV62	Missense_Mutation	SNP	ENST00000216780.4	37	c.673G>A	CCDS9609.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.467635	0.43839	.	.	ENSG00000100889	ENST00000216780;ENST00000396973;ENST00000545054	T;T;T	0.04317	3.65;3.65;3.65	5.49	5.49	0.81192	5.49	5.49	0.81192	.	0.289751	0.42053	D	0.000771	T	0.04815	0.0130	N	0.21142	0.635	0.38824	D	0.955709	B;B;B;B	0.15473	0.001;0.007;0.013;0.007	B;B;B;B	0.17979	0.014;0.017;0.02;0.017	T	0.49466	-0.8937	10	0.20046	T	0.44	-16.065	16.8589	0.86013	0.0:0.0:1.0:0.0	.	225;359;359;359	B4DW73;Q16822;Q16822-2;Q6IB91	.;PCKGM_HUMAN;.;.	T	359;359;225	ENSP00000216780:A359T;ENSP00000380171:A359T;ENSP00000441826:A225T	ENSP00000216780:A359T	A	+	1	0	0	PCK2	23639103	23639103	0.751000	0.28327	1.000000	0.80357	0.967000	0.64934	2.457000	0.45005	2.579000	0.87056	0.655000	0.94253	GCC		0.522	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071900.3		93.692302	-52	-52	110	110	NM_001018073		32	93.695751	93.695751	33	0.492308	0	0	0	1	0	32	33	0.492308
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"""guanine nucleotide binding protein (G protein), q polypeptide"""		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa	guanine nucleotide binding protein (G protein), q polypeptide						108.0	105.0	106.0					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		80.866073	-20	-20	92	92	NM_002072		25	81.229505	81.229505	35	0.416667	0	0	0	1	0	25	35	0.416667
PRRC2B	84726	broad.mit.edu	37	9	134350898	134350898	+	Missense_Mutation	SNP	C	C	T	rs559310957		TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr9:134350898C>T	ENST00000357304.4	+	15	3437	c.3382C>T	c.(3382-3384)Cgg>Tgg	p.R1128W	PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1128							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CAAGCCCCGACGGAGAGTTGC	0.672													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14338	0.0		0.0	False		,,,				2504	0.0					ENST00000357304.4											0			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						c.(3382-3384)Cgg>Tgg	proline-rich coiled-coil 2B						12.0	14.0	13.0					9																	134350898		1905	4081	5986	SO:0001583	missense	84726					protein binding	g.chr9:134350898C>T	AB011087	AB011087	CCDS48044.1	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723	ENSG00000130723	ENSG00000130723				28121	28121	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1	"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	9628581	Standard	Standard	NM_013318	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	uc004can.4	Q5JSZ5	Q5JSZ5	OTTHUMG00000020827	OTTHUMG00000020827	ENST00000357304.4:c.3382C>T	9.37:g.134350898C>T	ENSP00000349856:p.Arg1128Trp		PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron	p.R1128W	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN			15	3437	+			1128		O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	c.3382C>T	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.711147	0.48517	.	.	ENSG00000130723	ENST00000357304;ENST00000418650	T	0.28895	1.59	5.82	5.82	0.92795	5.82	5.82	0.92795	.	.	.	.	.	T	0.50956	0.1646	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.39643	-0.9604	8	.	.	.	.	13.9723	0.64250	0.1514:0.8486:0.0:0.0	.	424;1128	Q5H9R5;Q5JSZ5	.;PRC2B_HUMAN	W	1128;424	ENSP00000349856:R1128W	.	R	+	1	2	2	PRRC2B	133340719	133340719	0.994000	0.37717	0.997000	0.53966	0.276000	0.26787	0.882000	0.28186	2.756000	0.94617	0.561000	0.74099	CGG		0.672	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			9.592395	1	1	23	23			4	10.501447	10.501447	12	0.250000	0	0	0	1	0	4	12	0.25
KRT79	338785	broad.mit.edu	37	12	53216887	53216887	+	Missense_Mutation	SNP	C	C	T			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr12:53216887C>T	ENST00000330553.5	-	7	1314	c.1280G>A	c.(1279-1281)cGt>cAt	p.R427H		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	427	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTGGTAGTCACGCAGCAGCCG	0.617																																						ENST00000330553.5											0			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1279-1281)cGt>cAt	keratin 79						95.0	87.0	89.0					12																	53216887		2203	4300	6503	SO:0001583	missense	338785				keratin filament	structural molecule activity	g.chr12:53216887C>T	AJ564105	AJ564105	CCDS8839.1	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640	ENSG00000185640	ENSG00000185640		"""-"", ""Intermediate filaments type II, keratins (basic)"""	"""-"", ""Intermediate filaments type II, keratins (basic)"""	28930	28930	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""keratin 6-like"""	"""keratin 6-like"""	611160	611160						11683385	11683385	Standard	Standard	NM_175834	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	uc001sbb.3	Q5XKE5	Q5XKE5	OTTHUMG00000169878	OTTHUMG00000169878	ENST00000330553.5:c.1280G>A	12.37:g.53216887C>T	ENSP00000328358:p.Arg427His			p.R427H	NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN			7	1314	-			427	Coil 2.|Rod.	Q6P465|Q7Z793	Missense_Mutation	SNP	ENST00000330553.5	37	c.1280G>A	CCDS8839.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.182379	0.38511	.	.	ENSG00000185640	ENST00000330553;ENST00000549255	D;D	0.89810	-2.57;-2.57	3.92	2.1	0.27182	3.92	2.1	0.27182	Filament (1);	0.000000	0.44902	D	0.000418	D	0.85737	0.5766	M	0.75150	2.29	0.34666	D	0.723239	P	0.38148	0.62	B	0.37387	0.248	D	0.85802	0.1374	10	0.72032	D	0.01	.	5.2249	0.15389	0.1628:0.6584:0.0:0.1788	.	427	Q5XKE5	K2C79_HUMAN	H	427;13	ENSP00000328358:R427H;ENSP00000449159:R13H	ENSP00000328358:R427H	R	-	2	0	0	KRT79	51503154	51503154	0.002000	0.14202	0.072000	0.20136	0.078000	0.17371	1.184000	0.32053	0.623000	0.30267	-0.263000	0.10527	CGT		0.617	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1		40.772292	4	4	103	103	NM_175834		13	40.888158	40.888158	17	0.433333	0	0	0	1	0	13	17	0.433333
FAM177A1P1	728710	broad.mit.edu	37	4	99877173	99877173	+	RNA	DEL	A	A	-			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr4:99877173delA	ENST00000583654.1	+	0	237																											AGAGGCTTTGAAAATGTAGAA	0.398																																						ENST00000583654.1											0																																																0						g.chr4:99877173delA																																																		4.37:g.99877173delA											0	237	+						RNA	DEL	ENST00000583654.1	37																																																																																											0.398	RP11-571L19.7-001	KNOWN	non_canonical_other|not_organism_supported|basic	antisense	antisense	OTTHUMT00000441787.1	.	.	-7	-7	13	13			2			4	0.33						2	4	0.33
PLEKHG2	64857	broad.mit.edu	37	19	39905669	39905669	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YZ-A983-01A-11D-A39W-08	TCGA-YZ-A983-10B-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	699c8dc5-4c3b-4069-aac9-634da96679d1	fc2a9e37-ddcc-43d4-8d65-815c22a42e3a	g.chr19:39905669delT	ENST00000409794.3	+	3	997	c.147delT	c.(145-147)tctfs	p.S49fs	PLEKHG2_ENST00000458508.2_Intron|PLEKHG2_ENST00000409797.2_Frame_Shift_Del_p.S49fs|PLEKHG2_ENST00000425673.1_Frame_Shift_Del_p.S49fs|PLEKHG2_ENST00000378550.1_Frame_Shift_Del_p.S49fs	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	49					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCCGAGGTTCTGGGAGCTCCA	0.662																																						ENST00000425673.1											0			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(145-147)tctfs	pleckstrin homology domain containing, family G (with RhoGef domain) member 2						9.0	9.0	9.0					19																	39905669		2187	4277	6464	SO:0001589	frameshift_variant	64857			apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39905669delT	AK024429	AK024429	CCDS33022.2	CCDS33022.2	19q13.2	2013-01-11			2013-01-11			ENSG00000090924	ENSG00000090924	ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	29515	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611893	611893						11839748, 18045877	11839748, 18045877	Standard	Standard	NM_022835	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	uc010xuz.2	Q9H7P9	Q9H7P9	OTTHUMG00000152570	OTTHUMG00000152570	ENST00000409794.3:c.147delT	19.37:g.39905669delT	ENSP00000386733:p.Ser49fs		PLEKHG2_ENST00000409797.2_Frame_Shift_Del_p.S49fs|PLEKHG2_ENST00000458508.2_Intron|PLEKHG2_ENST00000378550.1_Frame_Shift_Del_p.S49fs|PLEKHG2_ENST00000409794.3_Frame_Shift_Del_p.S49fs	p.S49fs			Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		3	472	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		49		B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Frame_Shift_Del	DEL	ENST00000409794.3	37	c.147delT	CCDS33022.2																																																																																									0.662	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	.	.	-13	-13	6	6	NM_022835		2			4	0.33						2	4	0.33
