#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SLC9A6	10479	broad.mit.edu	37	X	135106617	135106617	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chrX:135106617G>C	ENST00000370698.3	+	12	1530	c.1495G>C	c.(1495-1497)Gca>Cca	p.A499P	SLC9A6_ENST00000370695.4_Missense_Mutation_p.A531P|SLC9A6_ENST00000370701.1_Missense_Mutation_p.A479P	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	499					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TGGCACCACTGCAATGCTGTC	0.393																																						uc004ezk.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33						c.(1591-1593)Gca>Cca		Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 6 (SLC9A6), transcript variant 1, mRNA.							278.0	204.0	229.0					X																	135106617		2203	4300	6503	SO:0001583	missense	10479				regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity	g.chrX:135106617G>C	AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"""Solute carriers"""	11079	protein-coding gene	gene with protein product		300231	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 6"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 6"""			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.1495G>C	X.37:g.135106617G>C	ENSP00000359732:p.Ala499Pro					SLC9A6_uc011mvx.2_Missense_Mutation_p.A479P|SLC9A6_uc004ezj.3_Missense_Mutation_p.A499P	p.A531P	NM_001042537	NP_001036002	Q92581	SL9A6_HUMAN			11	1667	+	Acute lymphoblastic leukemia(192;0.000127)		499					A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Missense_Mutation	SNP	ENST00000370698.3	37	c.1591G>C	CCDS14654.1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.542890	0.27563	.	.	ENSG00000198689	ENST00000370701;ENST00000370698;ENST00000370695	T;T;T	0.11604	2.76;2.76;2.76	5.14	5.14	0.70334	Cation/H+ exchanger (1);	0.172283	0.51477	D	0.000084	T	0.02571	0.0078	N	0.00074	-2.255	0.51012	D	0.999903	B;B	0.06786	0.001;0.0	B;B	0.06405	0.001;0.002	T	0.49934	-0.8886	10	0.23302	T	0.38	.	16.1427	0.81536	0.0:0.0:1.0:0.0	.	531;499	Q92581-2;Q92581	.;SL9A6_HUMAN	P	479;499;531	ENSP00000359735:A479P;ENSP00000359732:A499P;ENSP00000359729:A531P	ENSP00000359729:A531P	A	+	1	0	SLC9A6	134934283	0.997000	0.39634	0.998000	0.56505	0.875000	0.50365	4.794000	0.62482	2.111000	0.64477	0.506000	0.49869	GCA		0.393	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1	NM_006359		58	151	0	0	0	1	0	58	151				
EIF2AK4	440275	broad.mit.edu	37	15	40268678	40268678	+	Silent	SNP	C	C	A			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr15:40268678C>A	ENST00000263791.5	+	12	1925	c.1882C>A	c.(1882-1884)Cgg>Agg	p.R628R	EIF2AK4_ENST00000382727.2_Silent_p.R628R	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	628	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CCCGGCCAGCCGGCAGTTCCG	0.632																																						uc001zkm.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40						c.(1882-1884)Cgg>Agg		Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.							30.0	32.0	32.0					15																	40268678		2077	4217	6294	SO:0001819	synonymous_variant	440275				translation	cytosolic ribosome	ATP binding|aminoacyl-tRNA ligase activity|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40268678C>A	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.1882C>A	15.37:g.40268678C>A						EIF2AK4_uc010bbj.1_Silent_p.R357R	p.R628R	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	11	1932	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	628			Protein kinase 2.		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Silent	SNP	ENST00000263791.5	37	c.1882C>A	CCDS42016.1																																																																																				0.632	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			3	79	0	0	0	1	0	3	79				
GAD2	2572	broad.mit.edu	37	10	26508106	26508106	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr10:26508106C>T	ENST00000376261.3	+	4	924	c.421C>T	c.(421-423)Ctt>Ttt	p.L141F	GAD2_ENST00000259271.3_Missense_Mutation_p.L141F|GAD2_ENST00000376248.1_Missense_Mutation_p.L27F	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	141					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCCTAATGAGCTTCTCCAAGA	0.343																																						uc001isp.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(421-423)Ctt>Ttt		Homo sapiens glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) (GAD2), transcript variant 2, mRNA.	L-Glutamic Acid(DB00142)						104.0	109.0	107.0					10																	26508106		2203	4300	6503	SO:0001583	missense	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	Golgi membrane|cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26508106C>T	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.421C>T	10.37:g.26508106C>T	ENSP00000365437:p.Leu141Phe					GAD2_uc009xkr.3_Missense_Mutation_p.L141F|GAD2_uc001isq.2_Missense_Mutation_p.L141F	p.L141F	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN			3	924	+			141					Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	37	c.421C>T	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408473	0.83340	.	.	ENSG00000136750	ENST00000376261;ENST00000259271;ENST00000428517;ENST00000376248	T;T;T;T	0.60797	0.82;0.82;0.16;0.82	5.61	5.61	0.85477	Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.80232	0.4585	M	0.85945	2.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.82843	-0.0257	10	0.87932	D	0	-15.3197	19.6436	0.95767	0.0:1.0:0.0:0.0	.	141;141	Q4G154;Q05329	.;DCE2_HUMAN	F	141;141;141;27	ENSP00000365437:L141F;ENSP00000259271:L141F;ENSP00000390434:L141F;ENSP00000365424:L27F	ENSP00000259271:L141F	L	+	1	0	GAD2	26548112	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.792000	0.55476	2.621000	0.88768	0.650000	0.86243	CTT		0.343	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		20	174	0	0	0	1	0	20	174				
INPP5D	3635	broad.mit.edu	37	2	233990613	233990613	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr2:233990613A>T	ENST00000359570.5	+	4	508	c.508A>T	c.(508-510)Agc>Tgc	p.S170C	INPP5D_ENST00000474278.1_3'UTR|INPP5D_ENST00000538935.1_Missense_Mutation_p.S170C			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	170					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GCGACTGCAAAGCATGGACAC	0.602																																					NSCLC(82;1215 1426 16163 20348 41018)	uc010zmo.2																			0				central_nervous_system(1)|ovary(1)	2						c.(508-510)Agc>Tgc		Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.							29.0	32.0	31.0					2																	233990613		2037	4203	6240	SO:0001583	missense	3635				T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity	g.chr2:233990613A>T	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.508A>T	2.37:g.233990613A>T	ENSP00000352575:p.Ser170Cys					INPP5D_uc010zmp.2_Missense_Mutation_p.S169C	p.S170C	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	3	661	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	170					O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37	c.508A>T		.	.	.	.	.	.	.	.	.	.	A	13.38	2.220376	0.39201	.	.	ENSG00000168918	ENST00000422935;ENST00000451407;ENST00000359570;ENST00000538935	D;D;D;D	0.96459	-3.0;-2.99;-4.02;-3.98	5.23	1.34	0.21922	.	0.784649	0.12877	N	0.431757	D	0.93223	0.7841	.	.	.	0.20403	N	0.999904	P;B	0.34892	0.474;0.343	B;B	0.42214	0.38;0.211	D	0.87332	0.2325	9	0.59425	D	0.04	.	0.454	0.00505	0.4294:0.1846:0.2091:0.1769	.	169;170	Q92835-2;Q92835	.;SHIP1_HUMAN	C	169;170;170;170	ENSP00000409018:S169C;ENSP00000415253:S170C;ENSP00000352575:S170C;ENSP00000441010:S170C	ENSP00000352575:S170C	S	+	1	0	INPP5D	233698857	0.023000	0.18921	0.963000	0.40424	0.717000	0.41224	0.080000	0.14802	0.840000	0.34995	0.529000	0.55759	AGC		0.602	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		7	32	0	0	0	1	0	7	32				
MUC16	94025	broad.mit.edu	37	19	9074980	9074980	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr19:9074980T>C	ENST00000397910.4	-	3	12669	c.12466A>G	c.(12466-12468)Acc>Gcc	p.T4156A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4158	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAGAGCTGGTTTCTTCCACA	0.493																																						uc002mkp.3																			0		p.T4156T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(12466-12468)Acc>Gcc		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							163.0	150.0	154.0					19																	9074980		1985	4168	6153	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9074980T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.12466A>G	19.37:g.9074980T>C	ENSP00000381008:p.Thr4156Ala						p.T4156A	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			2	12670	-			4158			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.12466A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	6.676	0.493274	0.12702	.	.	ENSG00000181143	ENST00000397910	T	0.25085	1.82	1.6	-0.615	0.11587	.	.	.	.	.	T	0.21427	0.0516	L	0.55481	1.735	.	.	.	B	0.19817	0.039	B	0.22753	0.041	T	0.26467	-1.0102	8	0.87932	D	0	.	4.216	0.10535	0.0:0.431:0.0:0.569	.	4156	B5ME49	.	A	4156	ENSP00000381008:T4156A	ENSP00000381008:T4156A	T	-	1	0	MUC16	8935980	0.000000	0.05858	0.000000	0.03702	0.490000	0.33462	-0.271000	0.08572	-0.262000	0.09392	0.260000	0.18958	ACC		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		20	104	0	0	0	1	0	20	104				
FMNL3	91010	broad.mit.edu	37	12	50050234	50050234	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr12:50050234G>A	ENST00000293590.5	-	9	1071	c.838C>T	c.(838-840)Cga>Tga	p.R280*	FMNL3_ENST00000550488.1_Nonsense_Mutation_p.R280*|FMNL3_ENST00000352151.5_Nonsense_Mutation_p.R229*|FMNL3_ENST00000335154.5_Nonsense_Mutation_p.R280*			Q8IVF7	FMNL3_HUMAN	formin-like 3	280	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TGACCTCCTCGCACCAAACAC	0.507																																						uc001ruv.1																			0				breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						c.(838-840)Cga>Tga		Homo sapiens formin-like 3 (FMNL3), transcript variant 1, mRNA.							76.0	77.0	77.0					12																	50050234		2043	4228	6271	SO:0001587	stop_gained	91010				actin cytoskeleton organization		Rho GTPase binding|actin binding	g.chr12:50050234G>A	AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.838C>T	12.37:g.50050234G>A	ENSP00000293590:p.Arg280*					FMNL3_uc001ruw.1_Nonsense_Mutation_p.R229*|FMNL3_uc001ruu.1_Nonsense_Mutation_p.R130*	p.R280*	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN			8	1072	-			280			GBD/FH3.		B0JZA7|Q6ZRJ1	Nonsense_Mutation	SNP	ENST00000293590.5	37	c.838C>T		.	.	.	.	.	.	.	.	.	.	G	33	5.264890	0.95399	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	.	.	.	5.44	4.5	0.54988	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3473	0.60582	0.0:0.0:0.7491:0.2509	.	.	.	.	X	280;280;229;280	.	ENSP00000293590:R280X	R	-	1	2	FMNL3	48336501	0.319000	0.24607	1.000000	0.80357	0.998000	0.95712	0.674000	0.25218	2.732000	0.93576	0.655000	0.94253	CGA		0.507	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736		3	52	0	0	0	1	0	3	52				
FMNL1	752	broad.mit.edu	37	17	43311541	43311541	+	Silent	SNP	G	G	A			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr17:43311541G>A	ENST00000331495.3	+	6	924	c.588G>A	c.(586-588)gtG>gtA	p.V196V	FMNL1_ENST00000592006.1_3'UTR|FMNL1_ENST00000328118.3_Silent_p.V196V	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	196	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						CCTCCTCCGTGCCCAAAAGCC	0.572																																					GBM(164;1247 1997 8702 11086 51972)	uc002iin.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						c.(586-588)gtG>gtA		Homo sapiens formin-like 1 (FMNL1), mRNA.							63.0	67.0	66.0					17																	43311541		2203	4300	6503	SO:0001819	synonymous_variant	752				actin cytoskeleton organization		Rho GTPase binding|actin binding	g.chr17:43311541G>A	AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.588G>A	17.37:g.43311541G>A						FMNL1_uc002iio.3_Silent_p.V141V	p.V196V	NM_005892	NP_005883	O95466	FMNL_HUMAN			5	788	+			196			GBD/FH3.		D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Silent	SNP	ENST00000331495.3	37	c.588G>A	CCDS11497.1																																																																																				0.572	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	NM_005892		44	66	0	0	0	1	0	44	66				
FASN	2194	broad.mit.edu	37	17	80043235	80043235	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr17:80043235A>T	ENST00000306749.2	-	24	4384	c.4166T>A	c.(4165-4167)gTg>gAg	p.V1389E	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1389					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CTTCAGGCCCACCAGGCGCAG	0.701																																					Colon(59;314 1043 11189 28578 32273)	uc002kdu.3																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(4165-4167)gTg>gAg		Homo sapiens fatty acid synthase (FASN), mRNA.	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						18.0	25.0	23.0					17																	80043235		2181	4280	6461	SO:0001583	missense	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80043235A>T	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.4166T>A	17.37:g.80043235A>T	ENSP00000304592:p.Val1389Glu					FASN_uc002kdw.1_Missense_Mutation_p.V605E	p.V1389E	NM_004104	NP_004095	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		23	4283	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		1389					Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	c.4166T>A	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.505049	0.85282	.	.	ENSG00000169710	ENST00000306749;ENST00000545909	T	0.10573	2.86	4.49	4.49	0.54785	.	0.073236	0.53938	D	0.000042	T	0.33876	0.0878	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.21930	-1.0231	10	0.87932	D	0	-29.7612	14.0429	0.64687	1.0:0.0:0.0:0.0	.	1389	P49327	FAS_HUMAN	E	1389;354	ENSP00000304592:V1389E	ENSP00000304592:V1389E	V	-	2	0	FASN	77636524	1.000000	0.71417	0.997000	0.53966	0.828000	0.46876	8.907000	0.92634	1.772000	0.52199	0.379000	0.24179	GTG		0.701	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		6	15	0	0	0	1	0	6	15				
GARNL3	84253	broad.mit.edu	37	9	130106562	130106562	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr9:130106562A>G	ENST00000373387.4	+	15	1652	c.1300A>G	c.(1300-1302)Aag>Gag	p.K434E	GARNL3_ENST00000435213.2_Missense_Mutation_p.K412E|GARNL3_ENST00000314904.5_Missense_Mutation_p.K434E	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	434					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						AGAGTCACCCAAGTCAGCGCG	0.423																																						uc011mae.2																			0		p.Q434K(1)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						c.(1300-1302)Aag>Gag		Homo sapiens GTPase activating Rap/RanGAP domain-like 3 (GARNL3), mRNA.							136.0	152.0	147.0					9																	130106562		2203	4300	6503	SO:0001583	missense	84253				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	g.chr9:130106562A>G	BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.1300A>G	9.37:g.130106562A>G	ENSP00000362485:p.Lys434Glu					GARNL3_uc011mad.2_Missense_Mutation_p.K412E|GARNL3_uc004bqt.1_Missense_Mutation_p.K215E	p.K434E	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN			14	1701	+			434					B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	ENST00000373387.4	37	c.1300A>G	CCDS6869.2	.	.	.	.	.	.	.	.	.	.	A	18.94	3.729582	0.69074	.	.	ENSG00000136895	ENST00000435213;ENST00000314904;ENST00000373387	D;D;D	0.87412	-2.24;-2.21;-2.25	5.58	5.58	0.84498	.	0.042704	0.85682	D	0.000000	T	0.81494	0.4834	L	0.44542	1.39	0.58432	D	0.99999	B;B;B	0.31769	0.339;0.224;0.013	B;B;B	0.24701	0.055;0.055;0.006	T	0.78863	-0.2036	9	.	.	.	.	14.5659	0.68176	1.0:0.0:0.0:0.0	.	434;412;375	Q5VVW2;B7Z3Q6;Q5VVW4	GARL3_HUMAN;.;.	E	412;434;434	ENSP00000396205:K412E;ENSP00000313970:K434E;ENSP00000362485:K434E	.	K	+	1	0	GARNL3	129146383	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.833000	0.92089	2.113000	0.64589	0.460000	0.39030	AAG		0.423	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	NM_032293		17	280	0	0	0	1	0	17	280				
SNAI2	6591	broad.mit.edu	37	8	49832563	49832563	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr8:49832563C>T	ENST00000396822.1	-	3	874	c.517G>A	c.(517-519)Gcc>Acc	p.A173T	SNAI2_ENST00000020945.1_Missense_Mutation_p.A173T			O43623	SNAI2_HUMAN	snail family zinc finger 2	173					canonical Wnt signaling pathway (GO:0060070)|cartilage morphogenesis (GO:0060536)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to ionizing radiation (GO:0071479)|desmosome disassembly (GO:0035921)|embryo development (GO:0009790)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|epithelium development (GO:0060429)|negative regulation of anoikis (GO:2000811)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter (GO:1900387)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|negative regulation of vitamin D receptor signaling pathway (GO:0070563)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone acetylation (GO:0035066)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of chemokine production (GO:0032642)|regulation of osteoblast differentiation (GO:0045667)|regulation of tight junction assembly (GO:2000810)|sensory perception of sound (GO:0007605)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				ATCTTCAGGGCGCCCAGGCTC	0.483																																						uc003xqp.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18						c.(517-519)Gcc>Acc		Homo sapiens snail homolog 2 (Drosophila) (SNAI2), mRNA.							91.0	91.0	91.0					8																	49832563		2203	4300	6503	SO:0001583	missense	6591				canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:49832563C>T	U97060	CCDS6146.1	8q11.21	2013-05-23	2013-05-23	2002-02-28	ENSG00000019549	ENSG00000019549		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	11094	protein-coding gene	gene with protein product		602150	"""slug homolog, zinc finger protein (chicken)"", ""snail homolog 2 (Drosophila)"""	SLUG		9337409, 9721220	Standard	NM_003068		Approved	SLUGH1, SNAIL2	uc003xqp.3	O43623	OTTHUMG00000149912	ENST00000396822.1:c.517G>A	8.37:g.49832563C>T	ENSP00000380034:p.Ala173Thr						p.A173T	NM_003068	NP_003059	O43623	SNAI2_HUMAN			1	692	-		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)	173					B2R6P6|Q53FC1	Missense_Mutation	SNP	ENST00000396822.1	37	c.517G>A	CCDS6146.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.948696	0.92660	.	.	ENSG00000019549	ENST00000020945;ENST00000396822	T;T	0.50548	0.74;0.74	5.52	5.52	0.82312	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.49677	0.1571	N	0.04655	-0.195	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.61222	-0.7106	10	0.44086	T	0.13	-19.3139	19.4195	0.94715	0.0:1.0:0.0:0.0	.	173	O43623	SNAI2_HUMAN	T	173	ENSP00000020945:A173T;ENSP00000380034:A173T	ENSP00000020945:A173T	A	-	1	0	SNAI2	49995116	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	7.487000	0.81328	2.585000	0.87301	0.655000	0.94253	GCC		0.483	SNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313873.2	NM_003068		34	52	0	0	0	1	0	34	52				
ZNF300	91975	broad.mit.edu	37	5	150278070	150278070	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr5:150278070T>C	ENST00000274599.5	-	4	482	c.62A>G	c.(61-63)gAg>gGg	p.E21G	ZNF300_ENST00000427179.1_Missense_Mutation_p.E21G|ZNF300_ENST00000418587.2_5'UTR|ZNF300_ENST00000394226.2_Missense_Mutation_p.E21G|ZNF300_ENST00000446148.2_Missense_Mutation_p.E37G	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	21	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGCTGCCACTCCTCCTGGGT	0.463																																						uc021yfx.1																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27						c.(109-111)gAg>gGg		Homo sapiens zinc finger protein 300 (ZNF300), transcript variant 1, mRNA.							101.0	103.0	102.0					5																	150278070		2203	4300	6503	SO:0001583	missense	91975				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:150278070T>C	AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"""Zinc fingers, C2H2-type"", ""-"""	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.62A>G	5.37:g.150278070T>C	ENSP00000274599:p.Glu21Gly					ZNF300_uc021yfy.1_Missense_Mutation_p.E21G|ZNF300_uc021yfz.1_5'UTR	p.E37G	NM_001172831	NP_001166303	Q96RE9	ZN300_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	538	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	21			KRAB.		A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	ENST00000274599.5	37	c.110A>G	CCDS4311.2	.	.	.	.	.	.	.	.	.	.	T	18.42	3.620428	0.66787	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000427179;ENST00000394226	T;T;T;T	0.12255	2.7;2.7;2.7;2.7	3.26	3.26	0.37387	Krueppel-associated box (4);	.	.	.	.	T	0.51601	0.1684	H	0.99011	4.4	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.66720	-0.5852	9	0.87932	D	0	.	9.8868	0.41266	0.0:0.0:0.0:1.0	.	21	Q96RE9	ZN300_HUMAN	G	37;21;21;21	ENSP00000397178:E37G;ENSP00000274599:E21G;ENSP00000414195:E21G;ENSP00000377773:E21G	ENSP00000274599:E21G	E	-	2	0	ZNF300	150258263	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.741000	0.62095	1.510000	0.48803	0.383000	0.25322	GAG		0.463	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_052860		42	224	0	0	0	1	0	42	224				
ITIH6	347365	broad.mit.edu	37	X	54776381	54776381	+	Missense_Mutation	SNP	G	G	A	rs149644769	byFrequency	TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chrX:54776381G>A	ENST00000218436.6	-	13	3918	c.3889C>T	c.(3889-3891)Cgc>Tgc	p.R1297C		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	1297					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										ACATGAGAGCGCTTCACCAGC	0.577													G|||	2	0.000529801	0.0015	0.0	3775	,	,		12755	0.0		0.0	False		,,,				2504	0.0					uc004dtj.2																			0											c.(3889-3891)Cgc>Tgc		Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.		G	CYS/ARG	11,3824		0,10,1,1622,570	50.0	36.0	41.0		3889	1.6	0.9	X	dbSNP_134	41	0,6728		0,0,0,2428,1872	yes	missense	ITIH5L	NM_198510.2	180	0,10,1,4050,2442	AA,AG,A,GG,G		0.0,0.2868,0.1041	benign	1297/1314	54776381	11,10552	2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54776381G>A	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.3889C>T	X.37:g.54776381G>A	ENSP00000218436:p.Arg1297Cys						p.R1297C	NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN			12	3919	-			1297					A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.3889C>T	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.786780	0.31593	0.002868	0.0	ENSG00000102313	ENST00000218436	T	0.02446	4.29	3.58	1.58	0.23477	.	0.646937	0.14187	U	0.335654	T	0.03827	0.0108	L	0.49778	1.585	0.27356	N	0.956114	B	0.15473	0.013	B	0.04013	0.001	T	0.28235	-1.0050	10	0.52906	T	0.07	.	10.0142	0.42006	0.1377:0.0:0.8623:0.0	.	1297	Q6UXX5	ITH5L_HUMAN	C	1297	ENSP00000218436:R1297C	ENSP00000218436:R1297C	R	-	1	0	ITIH5L	54793106	0.000000	0.05858	0.915000	0.36163	0.957000	0.61999	-0.204000	0.09425	-0.099000	0.12263	0.284000	0.19432	CGC		0.577	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		4	57	0	0	0	1	0	4	57				
CFTR	1080	broad.mit.edu	37	7	117234990	117234990	+	Missense_Mutation	SNP	T	T	C	rs397508390		TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr7:117234990T>C	ENST00000003084.6	+	15	2629	c.2497T>C	c.(2497-2499)Ttt>Ctt	p.F833L	CFTR_ENST00000454343.1_Missense_Mutation_p.F772L	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	833				F -> L (in Ref. 1; AAA35680). {ECO:0000305}.	cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	TCAGGAGTGCTTTTTTGATGA	0.323									Cystic Fibrosis																													uc003vjd.3																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69						c.(2497-2499)Ttt>Ctt		Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	Bumetanide(DB00887)|Glibenclamide(DB01016)						122.0	119.0	120.0					7																	117234990		2203	4300	6503	SO:0001583	missense	1080	Cystic Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding	g.chr7:117234990T>C	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.2497T>C	7.37:g.117234990T>C	ENSP00000003084:p.Phe833Leu					CFTR_uc011knq.2_Missense_Mutation_p.F239L	p.F833L	NM_000492	NP_000483	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		14	2629	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		833	F -> L (in Ref. 1; AAA35680).				Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.2497T>C	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	T	14.38	2.518595	0.44763	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.95821	-3.82;-3.82;-3.82	5.34	4.17	0.49024	ABC transporter, transmembrane domain, type 1 (1);	0.092924	0.85682	N	0.000000	D	0.92166	0.7516	L	0.49350	1.555	0.54753	D	0.999981	B	0.12013	0.005	B	0.23574	0.047	D	0.86331	0.1698	10	0.12103	T	0.63	-17.4483	11.4499	0.50147	0.0:0.0715:0.0:0.9285	.	833	P13569	CFTR_HUMAN	L	833;772;803	ENSP00000003084:F833L;ENSP00000403677:F772L;ENSP00000389119:F803L	ENSP00000003084:F833L	F	+	1	0	CFTR	117022226	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	5.508000	0.67006	0.955000	0.37878	0.482000	0.46254	TTT		0.323	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		3	107	0	0	0	1	0	3	107				
XPR1	9213	broad.mit.edu	37	1	180849246	180849246	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr1:180849246G>A	ENST00000367590.4	+	14	2041	c.1843G>A	c.(1843-1845)Gaa>Aaa	p.E615K	XPR1_ENST00000367589.3_Missense_Mutation_p.E550K	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	615	EXS. {ECO:0000255|PROSITE- ProRule:PRU00712}.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						CCTGGAGAATGAACATCTGAA	0.458																																						uc001goi.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						c.(1843-1845)Gaa>Aaa		Homo sapiens xenotropic and polytropic retrovirus receptor 1 (XPR1), transcript variant 1, mRNA.							113.0	113.0	113.0					1																	180849246		2203	4300	6503	SO:0001583	missense	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180849246G>A	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.1843G>A	1.37:g.180849246G>A	ENSP00000356562:p.Glu615Lys					XPR1_uc009wxn.3_Missense_Mutation_p.E550K	p.E615K	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN			13	2035	+			615			EXS.		O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	37	c.1843G>A	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	G	36	5.831657	0.97003	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T;T	0.66280	-0.2;-0.2	5.57	5.57	0.84162	EXS, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.86539	0.5957	H	0.96142	3.775	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90527	0.4493	10	0.87932	D	0	-13.3488	19.1489	0.93479	0.0:0.0:1.0:0.0	.	550;615	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	K	615;550	ENSP00000356562:E615K;ENSP00000356561:E550K	ENSP00000356561:E550K	E	+	1	0	XPR1	179115869	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	9.726000	0.98782	2.599000	0.87857	0.591000	0.81541	GAA		0.458	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		45	51	0	0	0	1	0	45	51				
PLXNA2	5362	broad.mit.edu	37	1	208234068	208234068	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr1:208234068A>G	ENST00000367033.3	-	13	3458	c.2701T>C	c.(2701-2703)Tgc>Cgc	p.C901R		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	901	IPT/TIG 1.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		AGGGGCGTGCAGGGCACCCCA	0.637																																						uc001hgz.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(2701-2703)Tgc>Cgc		Homo sapiens plexin A2 (PLXNA2), mRNA.							58.0	55.0	56.0					1																	208234068		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208234068A>G	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.2701T>C	1.37:g.208234068A>G	ENSP00000356000:p.Cys901Arg						p.C901R	NM_025179	NP_079455	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	12	3459	-			901			IPT/TIG 1.		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.2701T>C	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.643486	0.87859	.	.	ENSG00000076356	ENST00000367033	T	0.63580	-0.05	5.08	5.08	0.68730	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.84871	0.5568	H	0.95504	3.68	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89618	0.3846	10	0.87932	D	0	.	14.8772	0.70504	1.0:0.0:0.0:0.0	.	901	O75051	PLXA2_HUMAN	R	901	ENSP00000356000:C901R	ENSP00000356000:C901R	C	-	1	0	PLXNA2	206300691	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.956000	0.93066	1.925000	0.55765	0.533000	0.62120	TGC		0.637	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		3	52	0	0	0	1	0	3	52				
PNLDC1	154197	broad.mit.edu	37	6	160225058	160225058	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr6:160225058G>C	ENST00000610273.1	+	5	448	c.277G>C	c.(277-279)Gaa>Caa	p.E93Q	PNLDC1_ENST00000609334.1_3'UTR|PNLDC1_ENST00000392167.3_Missense_Mutation_p.E104Q	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	93						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TTTGGACTCAGAATTCTCCTT	0.398																																						uc003qsy.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(310-312)Gaa>Caa		Homo sapiens poly(A)-specific ribonuclease (PARN)-like domain containing 1 (PNLDC1), mRNA.							152.0	157.0	155.0					6																	160225058		2203	4300	6503	SO:0001583	missense	154197					integral to membrane|nucleus	nucleic acid binding	g.chr6:160225058G>C	AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.277G>C	6.37:g.160225058G>C	ENSP00000476448:p.Glu93Gln					PNLDC1_uc003qsx.1_Missense_Mutation_p.E93Q	p.E104Q	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	4	349	+		Breast(66;0.00519)|Ovarian(120;0.123)	93					Q5TAP7|Q8N7X5	Missense_Mutation	SNP	ENST00000610273.1	37	c.310G>C	CCDS5271.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064215	0.36373	.	.	ENSG00000146453	ENST00000275275;ENST00000392167	T;T	0.22539	1.95;1.95	5.61	4.69	0.59074	Ribonuclease H-like (1);	0.090906	0.47455	D	0.000239	T	0.06600	0.0169	N	0.22421	0.69	0.36519	D	0.870023	B;P	0.38420	0.433;0.63	B;B	0.34873	0.068;0.191	T	0.24548	-1.0157	10	0.25751	T	0.34	.	13.4577	0.61208	0.0:0.1566:0.8434:0.0	.	104;93	Q8NA58-2;Q8NA58	.;PNDC1_HUMAN	Q	93;104	ENSP00000275275:E93Q;ENSP00000376007:E104Q	ENSP00000275275:E93Q	E	+	1	0	PNLDC1	160145048	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	4.286000	0.58995	2.640000	0.89533	0.655000	0.94253	GAA		0.398	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_173516		100	184	0	0	0	1	0	100	184				
LRSAM1	90678	broad.mit.edu	37	9	130253549	130253549	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr9:130253549A>G	ENST00000323301.4	+	19	2082	c.1478A>G	c.(1477-1479)aAg>aGg	p.K493R	LRSAM1_ENST00000373324.4_Intron|LRSAM1_ENST00000373322.1_Missense_Mutation_p.K493R|LRSAM1_ENST00000300417.6_Missense_Mutation_p.K493R|LRSAM1_ENST00000483302.1_3'UTR	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	493					cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						TTAAAGAGGAAGTCCCTGGAC	0.507																																						uc004brb.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						c.(1477-1479)aAg>aGg		Homo sapiens leucine rich repeat and sterile alpha motif containing 1 (LRSAM1), transcript variant 2, mRNA.							98.0	100.0	100.0					9																	130253549		2203	4300	6503	SO:0001583	missense	90678				negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:130253549A>G	AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"""Sterile alpha motif (SAM) domain containing"""	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.1478A>G	9.37:g.130253549A>G	ENSP00000322937:p.Lys493Arg					LRSAM1_uc010mxk.2_Intron|LRSAM1_uc004brc.2_Missense_Mutation_p.K493R|LRSAM1_uc004brd.2_Missense_Mutation_p.K493R|LRSAM1_uc004bre.2_Missense_Mutation_p.K73R	p.K493R	NM_001005373	NP_612370	Q6UWE0	LRSM1_HUMAN			19	1850	+			493					Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Missense_Mutation	SNP	ENST00000323301.4	37	c.1478A>G	CCDS6873.1	.	.	.	.	.	.	.	.	.	.	A	11.32	1.603293	0.28534	.	.	ENSG00000148356	ENST00000300417;ENST00000323301;ENST00000373322	T;T;T	0.33865	1.39;1.39;1.39	5.49	5.49	0.81192	.	0.106321	0.64402	D	0.000006	T	0.17066	0.0410	N	0.11064	0.09	0.31790	N	0.629758	P	0.39060	0.657	B	0.35182	0.197	T	0.12502	-1.0545	10	0.02654	T	1	-25.1647	13.838	0.63421	1.0:0.0:0.0:0.0	.	493	Q6UWE0	LRSM1_HUMAN	R	493	ENSP00000300417:K493R;ENSP00000322937:K493R;ENSP00000362419:K493R	ENSP00000300417:K493R	K	+	2	0	LRSAM1	129293370	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.062000	0.57492	2.212000	0.71576	0.533000	0.62120	AAG		0.507	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054164.1	NM_138361		4	75	0	0	0	1	0	4	75				
SPOP	8405	broad.mit.edu	37	17	47696667	47696667	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr17:47696667G>C	ENST00000393328.2	-	5	646	c.281C>G	c.(280-282)cCa>cGa	p.P94R	SPOP_ENST00000393331.3_Missense_Mutation_p.P94R|SPOP_ENST00000347630.2_Missense_Mutation_p.P94R|SPOP_ENST00000504102.1_Missense_Mutation_p.P94R|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000503676.1_Missense_Mutation_p.P94R	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	94	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TTCACTCTTTGGACAGCTGAC	0.413										Prostate(2;0.17)																												uc010dbk.3																			0				endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(280-282)cCa>cGa		Homo sapiens speckle-type POZ protein (SPOP), transcript variant 2, mRNA.							126.0	118.0	121.0					17																	47696667		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696667G>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.281C>G	17.37:g.47696667G>C	ENSP00000377001:p.Pro94Arg	Prostate(2;0.17)				SPOP_uc002ipg.3_Missense_Mutation_p.P94R|SPOP_uc002ipb.3_Missense_Mutation_p.P94R|SPOP_uc002ipc.3_Missense_Mutation_p.P94R|SPOP_uc002ipd.3_Missense_Mutation_p.P94R|SPOP_uc002ipe.3_Missense_Mutation_p.P94R|SPOP_uc002ipf.3_Missense_Mutation_p.P94R	p.P94R	NM_003563	NP_003554	O43791	SPOP_HUMAN			4	913	-			94			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.281C>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187912	0.57909	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508	T;T;T;T;T;T;T;T;T;T	0.64438	1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08;1.08;-0.1	5.52	5.52	0.82312	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.62950	0.2470	L	0.49571	1.57	0.80722	D	1	P	0.47484	0.896	P	0.46237	0.508	T	0.56547	-0.7961	10	0.18710	T	0.47	-2.4743	19.2223	0.93803	0.0:0.0:1.0:0.0	.	94	O43791	SPOP_HUMAN	R	94;94;94;94;94;47;94;94;94;94;94	ENSP00000377001:P94R;ENSP00000377004:P94R;ENSP00000240327:P94R;ENSP00000425905:P94R;ENSP00000420908:P94R;ENSP00000426986:P94R;ENSP00000420960:P94R;ENSP00000426262:P94R;ENSP00000424119:P94R;ENSP00000426537:P94R	ENSP00000240327:P94R	P	-	2	0	SPOP	45051666	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.652000	0.98499	2.873000	0.98535	0.563000	0.77884	CCA		0.413	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		45	89	0	0	0	1	0	45	89				
ARHGEF10L	55160	broad.mit.edu	37	1	17914071	17914071	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr1:17914071G>A	ENST00000361221.3	+	3	313	c.154G>A	c.(154-156)Gtc>Atc	p.V52I	ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.V52I|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.V52I|ARHGEF10L_ENST00000375420.3_5'Flank|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.V52I	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	52						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AGCCCTGGGCGTCCCCAGCCT	0.597																																						uc001ban.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(154-156)Gtc>Atc		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.							147.0	161.0	156.0					1																	17914071		2203	4300	6503	SO:0001583	missense	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17914071G>A	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.154G>A	1.37:g.17914071G>A	ENSP00000355060:p.Val52Ile					ARHGEF10L_uc009vpe.1_Missense_Mutation_p.V52I|ARHGEF10L_uc001bao.3_Missense_Mutation_p.V52I|ARHGEF10L_uc001bap.3_Missense_Mutation_p.V52I|ARHGEF10L_uc010ocr.1_5'Flank	p.V52I	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	2	313	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	52					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	c.154G>A	CCDS182.1	.	.	.	.	.	.	.	.	.	.	G	9.654	1.142294	0.21205	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415	T;T;T;T	0.60040	0.4;0.37;0.22;0.37	4.57	0.572	0.17357	.	1.016860	0.07891	N	0.971123	T	0.37839	0.1018	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.26975	0.165;0.072;0.021;0.012	B;B;B;B	0.19148	0.023;0.016;0.024;0.01	T	0.18335	-1.0340	10	0.16420	T	0.52	-5.8202	6.3153	0.21186	0.4222:0.0:0.5778:0.0	.	52;52;52;52	Q9HCE6-5;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;ARGAL_HUMAN	I	52	ENSP00000355060:V52I;ENSP00000399401:V52I;ENSP00000394621:V52I;ENSP00000364564:V52I	ENSP00000355060:V52I	V	+	1	0	ARHGEF10L	17786658	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.029000	0.12329	0.248000	0.21435	-0.258000	0.10820	GTC		0.597	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		5	304	0	0	0	1	0	5	304				
TTC36	143941	broad.mit.edu	37	11	118398234	118398234	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr11:118398234G>A	ENST00000302783.4	+	1	48	c.25G>A	c.(25-27)Gtg>Atg	p.V9M	RP11-770J1.3_ENST00000528578.1_RNA|TTC36_ENST00000539546.1_5'UTR|RP11-770J1.3_ENST00000532597.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000554407.1_RNA|RP11-770J1.3_ENST00000556583.1_RNA	NM_001080441.1	NP_001073910.1	A6NLP5	TTC36_HUMAN	tetratricopeptide repeat domain 36	9										lung(2)	2						TGATCAGGCAGTGCTGCAGGC	0.537																																						uc001ptg.1																			0				lung(2)	2						c.(25-27)Gtg>Atg		Homo sapiens tetratricopeptide repeat domain 36 (TTC36), mRNA.							174.0	170.0	171.0					11																	118398234		2200	4295	6495	SO:0001583	missense	143941						binding	g.chr11:118398234G>A	EU489483	CCDS31687.1	11q23.3	2013-01-10			ENSG00000172425	ENSG00000172425		"""Tetratricopeptide (TTC) repeat domain containing"""	33708	protein-coding gene	gene with protein product	"""HSP70 binding protein 21"""						Standard	NM_001080441		Approved	HBP21	uc001ptg.1	A6NLP5	OTTHUMG00000166338	ENST00000302783.4:c.25G>A	11.37:g.118398234G>A	ENSP00000307640:p.Val9Met					TTC36_uc010ryb.1_Non-coding_Transcript|TTC36_uc010ryc.1_5'UTR	p.V9M	NM_001080441	NP_001073910	A6NLP5	TTC36_HUMAN			0	25	+			9					B7ZW72|B9EJD8	Missense_Mutation	SNP	ENST00000302783.4	37	c.25G>A	CCDS31687.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.998718	0.93227	.	.	ENSG00000172425	ENST00000302783	T	0.53206	0.63	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.71134	0.3304	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73288	-0.4030	10	0.87932	D	0	-23.6162	19.7782	0.96405	0.0:0.0:1.0:0.0	.	9	A6NLP5	TTC36_HUMAN	M	9	ENSP00000307640:V9M	ENSP00000307640:V9M	V	+	1	0	TTC36	117903444	1.000000	0.71417	0.930000	0.37139	0.858000	0.48976	7.505000	0.81655	2.676000	0.91093	0.563000	0.77884	GTG		0.537	TTC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389241.2	NM_001080441		4	285	0	0	0	1	0	4	285				
ASAP2	8853	broad.mit.edu	37	2	9463306	9463306	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr2:9463306C>G	ENST00000281419.3	+	6	867	c.527C>G	c.(526-528)aCt>aGt	p.T176S	ASAP2_ENST00000315273.4_Missense_Mutation_p.T176S	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	176					positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						ATGATTCGGACTGAAATAAGC	0.498																																						uc002qzh.2																			0		p.R175L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						c.(526-528)aCt>aGt		Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 (ASAP2), transcript variant 1, mRNA.							138.0	140.0	139.0					2																	9463306		2203	4300	6503	SO:0001583	missense	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9463306C>G	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.527C>G	2.37:g.9463306C>G	ENSP00000281419:p.Thr176Ser					ASAP2_uc002qzi.2_Missense_Mutation_p.T176S	p.T176S	NM_003887	NP_003878	O43150	ASAP2_HUMAN			5	867	+			176					D6W4Y8	Missense_Mutation	SNP	ENST00000281419.3	37	c.527C>G	CCDS1661.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.542974	0.86022	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.57436	0.41;0.4	5.11	5.11	0.69529	.	0.050455	0.85682	D	0.000000	T	0.66479	0.2793	L	0.46157	1.445	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.76071	0.987;0.97	T	0.61628	-0.7024	10	0.31617	T	0.26	.	18.3423	0.90309	0.0:1.0:0.0:0.0	.	176;176	O43150-2;O43150	.;ASAP2_HUMAN	S	176	ENSP00000281419:T176S;ENSP00000316404:T176S	ENSP00000281419:T176S	T	+	2	0	ASAP2	9380757	1.000000	0.71417	0.120000	0.21714	0.950000	0.60333	5.537000	0.67186	2.646000	0.89796	0.655000	0.94253	ACT		0.498	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887		88	137	0	0	0	1	0	88	137				
PCDHA3	56145	broad.mit.edu	37	5	140180926	140180926	+	Silent	SNP	C	C	A			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr5:140180926C>A	ENST00000522353.2	+	1	144	c.144C>A	c.(142-144)atC>atA	p.I48I	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.I48I|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	48	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCCGCATCGCGCAGGACC	0.647																																						uc003lhf.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(142-144)atC>atA		Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.							53.0	62.0	59.0					5																	140180926		2203	4300	6503	SO:0001819	synonymous_variant	56134				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140180926C>A	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.144C>A	5.37:g.140180926C>A						PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.I48I	p.I48I	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	144	+			61			Cadherin 1.		O75286	Silent	SNP	ENST00000522353.2	37	c.144C>A	CCDS54915.1																																																																																				0.647	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		4	142	0	0	0	1	0	4	142				
LCT	3938	broad.mit.edu	37	2	136574959	136574959	+	Silent	SNP	G	G	A	rs142388926		TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr2:136574959G>A	ENST00000264162.2	-	6	1669	c.1659C>T	c.(1657-1659)acC>acT	p.T553T	AC011893.3_ENST00000437007.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	553	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GGTGCTGGCCGGTGCCATAGC	0.572																																						uc002tuu.1																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(1657-1659)acC>acT		Homo sapiens lactase (LCT), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	76.0	73.0	74.0		1659	-8.4	0.3	2	dbSNP_134	74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LCT	NM_002299.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		553/1928	136574959	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136574959G>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.1659C>T	2.37:g.136574959G>A							p.T553T	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	5	1670	-			553			4 X approximate repeats.		Q4ZG58	Silent	SNP	ENST00000264162.2	37	c.1659C>T	CCDS2178.1																																																																																				0.572	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		3	94	0	0	0	1	0	3	94				
TG	7038	broad.mit.edu	37	8	133899146	133899149	+	Frame_Shift_Del	DEL	TGAA	TGAA	-	rs192077055	byFrequency	TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr8:133899146_133899149delTGAA	ENST00000220616.4	+	9	1569_1572	c.1529_1532delTGAA	c.(1528-1533)ttgaatfs	p.LN510fs	TG_ENST00000377869.1_Frame_Shift_Del_p.LN510fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	510					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GCAAGCTTCTTGAATGGAGGGAGA	0.451																																						uc003ytw.3																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(1528-1533)ttgaatfs		Homo sapiens thyroglobulin (TG), mRNA.																																				SO:0001589	frameshift_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133899146_133899149delTGAA	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.1529_1532delTGAA	8.37:g.133899146_133899149delTGAA	ENSP00000220616:p.Leu510fs						p.L510fs	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	8	1570_1573	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	510					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Frame_Shift_Del	DEL	ENST00000220616.4	37	c.1529_1532delTGAA	CCDS34944.1																																																																																				0.451	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		35	54						35	54	---	---	---	---
PTPRD	5789	broad.mit.edu	37	9	8733812	8733814	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-EM-A3FR-01A-11D-A21Z-08	TCGA-EM-A3FR-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bae2f08-da75-4991-acb8-5ba9912f9131	d2f5c569-964a-4cb4-a77e-a3df7bfbe36a	g.chr9:8733812_8733814delAGC	ENST00000381196.4	-	9	573_575	c.30_32delGCT	c.(28-33)ctgctc>ctc	p.10_11LL>L	PTPRD_ENST00000397606.3_In_Frame_Del_p.10_11LL>L|PTPRD_ENST00000397611.3_In_Frame_Del_p.10_11LL>L|PTPRD_ENST00000463477.1_In_Frame_Del_p.10_11LL>L|PTPRD_ENST00000537002.1_In_Frame_Del_p.10_11LL>L|PTPRD_ENST00000355233.5_In_Frame_Del_p.10_11LL>L|PTPRD_ENST00000358503.5_In_Frame_Del_p.10_11LL>L|PTPRD_ENST00000486161.1_In_Frame_Del_p.10_11LL>L|PTPRD_ENST00000360074.4_In_Frame_Del_p.10_11LL>L|PTPRD_ENST00000397617.3_In_Frame_Del_p.10_11LL>L|PTPRD_ENST00000540109.1_In_Frame_Del_p.10_11LL>L|PTPRD_ENST00000356435.5_In_Frame_Del_p.10_11LL>L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	10					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)		GAAAGTGAGGAGCAGCAGCAGCA	0.591										TSP Lung(15;0.13)																												uc003zkk.3																			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.(28-33)ctgctc>ctc		Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.			,,,,,	9,4115		1,7,2054					,,,,,	0.1	0.8			53	11,7977		1,9,3984	no	coding,coding,coding,coding,coding,coding	PTPRD	NM_130393.3,NM_130392.3,NM_130391.3,NM_002839.3,NM_001171025.1,NM_001040712.2	,,,,,	2,16,6038	A1A1,A1R,RR		0.1377,0.2182,0.1651	,,,,,	,,,,,		20,12092				SO:0001651	inframe_deletion	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8733812_8733814delAGC	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.30_32delGCT	9.37:g.8733821_8733823delAGC	ENSP00000370593:p.Leu12del	TSP Lung(15;0.13)				PTPRD_uc003zkp.3_In_Frame_Del_p.10_11LL>L|PTPRD_uc003zkq.3_In_Frame_Del_p.10_11LL>L|PTPRD_uc003zkr.3_In_Frame_Del_p.10_11LL>L|PTPRD_uc003zks.3_In_Frame_Del_p.10_11LL>L|PTPRD_uc022bdj.1_In_Frame_Del_p.10_11LL>L|PTPRD_uc003zkt.1_In_Frame_Del_p.10_11LL>L	p.10_11LL>L	NM_002839	NP_002830	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)	11	773_775	-		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)	10					B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	In_Frame_Del	DEL	ENST00000381196.4	37	c.30_32delGCT	CCDS43786.1																																																																																				0.591	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			2	4						2	4	---	---	---	---
