#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_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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	t_alt_count	t_ref_count
ANO9	338440	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	418583	418583	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr11:418583C>T	ENST00000332826.6	-	23	2221	c.2137G>A	c.(2137-2139)Gcc>Acc	p.A713T	SIGIRR_ENST00000382520.2_5'Flank|SIGIRR_ENST00000332725.3_5'Flank|SIGIRR_ENST00000397632.3_5'Flank	NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	713					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						ATGCACAAGGCCACGTGCTAG	0.627																																																0													73.0	66.0	68.0					11																	418583		2203	4299	6502	SO:0001583	missense	338440			U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	20679	protein-coding gene	gene with protein product			"""tumor protein p53 inducible protein 5"", ""transmembrane protein 16J"""	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.2137G>A	11.37:g.418583C>T	ENSP00000332788:p.Ala713Thr		B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP	ENST00000332826.6	37	CCDS31326.1	.	.	.	.	.	.	.	.	.	.	c	17.00	3.276223	0.59649	.	.	ENSG00000185101	ENST00000332826	T	0.65364	-0.15	3.56	3.56	0.40772	.	0.317587	0.28114	N	0.016548	T	0.75759	0.3893	M	0.62723	1.935	0.38214	D	0.940558	D;D	0.89917	1.0;1.0	D;D	0.79784	0.962;0.993	T	0.81191	-0.1045	10	0.62326	D	0.03	.	15.7152	0.77663	0.0:1.0:0.0:0.0	.	414;713	A1A5B4-2;A1A5B4	.;ANO9_HUMAN	T	713	ENSP00000332788:A713T	ENSP00000332788:A713T	A	-	1	0	ANO9	408583	0.998000	0.40836	0.859000	0.33776	0.047000	0.14425	2.990000	0.49401	2.011000	0.59026	0.478000	0.44815	GCC		0.627	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302		23	39	23	39
RB1	5925	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	13	48953728	48953728	+	Splice_Site	SNP	A	A	G			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr13:48953728A>G	ENST00000267163.4	+	14	1470		c.e14-1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(10)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GTTTGTTTGTAGCGATACAAA	0.333		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	25	Whole gene deletion(15)|Unknown(10)	bone(11)|breast(5)|central_nervous_system(2)|lung(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	GRCh37	CS030552	RB1	S							18.0	19.0	19.0					13																	48953728		2200	4299	6499	SO:0001630	splice_region_variant	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1333-1A>G	13.37:g.48953728A>G			A8K5E3|P78499|Q5VW46|Q8IZL4	Splice_Site	SNP	ENST00000267163.4	37	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.605344	0.87157	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0294	0.80567	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RB1	47851729	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.469000	0.90395	2.185000	0.69588	0.455000	0.32223	.		0.333	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		Intron	10	8	10	8
GMPR2	51292	hgsc.bcm.edu;broad.mit.edu	37	14	24707610	24707610	+	Splice_Site	SNP	A	A	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr14:24707610A>T	ENST00000355299.4	+	9	1317	c.856A>T	c.(856-858)Aga>Tga	p.R286*	GMPR2_ENST00000348719.7_Missense_Mutation_p.R286W|GMPR2_ENST00000420554.2_Splice_Site_p.R304*|GMPR2_ENST00000559104.1_Splice_Site_p.R271*|GMPR2_ENST00000399440.2_Splice_Site_p.R286*|GMPR2_ENST00000557854.1_Missense_Mutation_p.R304W|GMPR2_ENST00000559836.1_Splice_Site_p.R286*|GMPR2_ENST00000456667.3_Splice_Site_p.R258*|GMPR2_ENST00000559910.1_Splice_Site_p.R253*	NM_001002000.1	NP_001002000.1	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	286	GMP binding.				GMP metabolic process (GO:0046037)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		GGCTGAGTACAGGTATGTGTG	0.512																																																0													93.0	98.0	97.0					14																	24707610		2041	4201	6242	SO:0001630	splice_region_variant	51292				CCDS41935.1, CCDS45087.1, CCDS61419.1, CCDS73624.1	14q11.2	2006-11-24							4377	protein-coding gene	gene with protein product		610781					Standard	XM_005267742		Approved		uc001wnw.3	Q9P2T1		ENST00000355299.4:c.857+1A>T	14.37:g.24707610A>T			D3DS66|Q567T0|Q6IAJ8|Q86T14	Missense_Mutation	SNP	ENST00000355299.4	37	CCDS41935.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.8|20.8	4.046371|4.046371	0.75846|0.75846	.|.	.|.	ENSG00000100938|ENSG00000100938	ENST00000348719|ENST00000355299;ENST00000421944;ENST00000420554;ENST00000399440;ENST00000456667	T|.	0.25085|.	1.82|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|.	0.34542|.	0.0901|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|.	0.25847|.	-1.0120|.	9|.	0.72032|0.02654	D|T	0.01|1	.|.	12.1849|12.1849	0.54231|0.54231	0.8576:0.1424:0.0:0.0|0.8576:0.1424:0.0:0.0	.|.	286|.	Q6PKC0|.	.|.	W|X	286|286;286;304;286;258	ENSP00000334409:R286W|.	ENSP00000334409:R286W|ENSP00000347449:R286X	R|R	+|+	1|1	2|2	GMPR2|GMPR2	23777450|23777450	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.803000|0.803000	0.45373|0.45373	7.209000|7.209000	0.77916|0.77916	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	AGG|AGA		0.512	GMPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415821.2	NM_016576	Nonsense_Mutation	3	44	3	44
MAGEL2	54551	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	23889301	23889301	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr15:23889301C>T	ENST00000532292.1	-	1	1874	c.1780G>A	c.(1780-1782)Gtc>Atc	p.V594I		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	477					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AACCTCAGGACAAGCATCTTG	0.522																																																0													62.0	63.0	63.0					15																	23889301		1939	4144	6083	SO:0001583	missense	54551			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1780G>A	15.37:g.23889301C>T	ENSP00000433433:p.Val594Ile			Missense_Mutation	SNP	ENST00000532292.1	37																																																																																					0.522	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		20	37	20	37
IST1	9798	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	71958718	71958718	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr16:71958718T>C	ENST00000378799.6	+	9	1255	c.899T>C	c.(898-900)gTt>gCt	p.V300A	IST1_ENST00000535424.1_Missense_Mutation_p.V313A|IST1_ENST00000329908.8_Silent_p.L299L|IST1_ENST00000544564.1_Missense_Mutation_p.V300A|IST1_ENST00000538850.1_Missense_Mutation_p.V152A|IST1_ENST00000606369.1_Missense_Mutation_p.V152A|IST1_ENST00000538565.1_3'UTR|IST1_ENST00000378798.5_Missense_Mutation_p.V269A|RP11-498D10.5_ENST00000567146.1_RNA|IST1_ENST00000541571.2_Missense_Mutation_p.V300A			P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	298	Interaction with VTA1.				abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of proteolysis (GO:0045862)|protein localization (GO:0008104)|viral capsid secondary envelopment (GO:0046745)|viral release from host cell (GO:0019076)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|midbody (GO:0030496)	MIT domain binding (GO:0090541)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)										GCACAGATTGTTGGTGAGTAG	0.418																																																0													122.0	108.0	113.0					16																	71958718		2198	4300	6498	SO:0001583	missense	9798			BC004359	CCDS10905.1, CCDS59271.1, CCDS59272.1, CCDS59273.1, CCDS59274.1	16q22.2	2011-08-18	2011-08-18	2011-08-18	ENSG00000182149	ENSG00000182149			28977	protein-coding gene	gene with protein product			"""KIAA0174"""	KIAA0174		8724849, 19129480	Standard	NM_001270975		Approved		uc002fbm.2	P53990	OTTHUMG00000137597	ENST00000378799.6:c.899T>C	16.37:g.71958718T>C	ENSP00000368076:p.Val300Ala		A8KAH5|J3QLU7|Q3SYM4|Q9BQ81|Q9BWN2	Missense_Mutation	SNP	ENST00000378799.6	37	CCDS59272.1	.	.	.	.	.	.	.	.	.	.	T	2.242	-0.373646	0.05034	.	.	ENSG00000182149	ENST00000535424;ENST00000378799;ENST00000538963;ENST00000538850;ENST00000378798	.	.	.	5.94	3.62	0.41486	.	0.515127	0.21532	N	0.073036	T	0.23451	0.0567	.	.	.	0.32852	D	0.506802	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.24799	-1.0150	8	0.08599	T	0.76	-1.5232	5.2026	0.15273	0.0:0.1562:0.1526:0.6912	.	269;313	P53990-2;A8KAH5	.;.	A	313;300;289;152;269	.	ENSP00000368075:V269A	V	+	2	0	KIAA0174	70516219	1.000000	0.71417	0.879000	0.34478	0.768000	0.43524	1.935000	0.40173	0.454000	0.26884	0.519000	0.50382	GTT		0.418	IST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269005.2	NM_014761		23	10	23	10
NF1	4763	hgsc.bcm.edu;broad.mit.edu	37	17	29497016	29497016	+	Splice_Site	SNP	G	G	A			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr17:29497016G>A	ENST00000358273.4	+	5	969		c.e5+1		NF1_ENST00000431387.4_Splice_Site|NF1_ENST00000356175.3_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTCCTGAAGGGTAAGTTTAAA	0.289			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(4)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)	GRCh37	CD000950|CS000893|CS072269	NF1	D|S							55.0	56.0	56.0					17																	29497016		2203	4296	6499	SO:0001630	splice_region_variant	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.586+1G>A	17.37:g.29497016G>A			O00662|Q14284|Q14930|Q14931|Q9UMK3	Splice_Site	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950091	0.73787	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175	.	.	.	5.59	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4671	0.67492	0.0708:0.0:0.9292:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NF1	26521142	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	8.518000	0.90559	1.382000	0.46385	0.591000	0.81541	.		0.289	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	Intron	14	35	14	35
NF1	4763	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	29677227	29677227	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr17:29677227C>T	ENST00000358273.4	+	50	7731	c.7348C>T	c.(7348-7350)Cga>Tga	p.R2450*	NF1_ENST00000417592.2_Nonsense_Mutation_p.R163*|NF1_ENST00000444181.2_Nonsense_Mutation_p.R243*|NF1_ENST00000356175.3_Nonsense_Mutation_p.R2429*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2450					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.R2450*(6)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGAAGAAGTTCGAAGTCGCTG	0.363			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	17	Whole gene deletion(8)|Substitution - Nonsense(6)|Unknown(3)	soft_tissue(10)|autonomic_ganglia(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|central_nervous_system(1)|lung(1)	GRCh37	CD000998|CM000818	NF1	D|M							159.0	145.0	150.0					17																	29677227		2203	4300	6503	SO:0001587	stop_gained	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7348C>T	17.37:g.29677227C>T	ENSP00000351015:p.Arg2450*		O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.276767	0.80580	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181;ENST00000417592	.	.	.	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.382	0.66916	0.1478:0.8522:0.0:0.0	.	.	.	.	X	2450;2429;2095;243;163	.	ENSP00000348498:R2429X	R	+	1	2	NF1	26701353	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.331000	0.43894	2.626000	0.88956	0.563000	0.77884	CGA		0.363	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		41	80	41	80
SLC16A5	9121	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	73096729	73096729	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr17:73096729C>G	ENST00000450736.2	+	4	1386	c.971C>G	c.(970-972)gCa>gGa	p.A324G	SLC16A5_ENST00000538213.2_Missense_Mutation_p.A364G|SLC16A5_ENST00000580123.1_Missense_Mutation_p.A324G|SLC16A5_ENST00000329783.4_Missense_Mutation_p.A324G			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	324					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	GTGTGTGCGGCATCAGGTGAC	0.617																																																0													528.0	459.0	483.0					17																	73096729		2203	4300	6503	SO:0001583	missense	9121			U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"""Solute carriers"""	10926	protein-coding gene	gene with protein product		603879	"""solute carrier family 16 (monocarboxylic acid transporters), member 5"", ""solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"""			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.971C>G	17.37:g.73096729C>G	ENSP00000390564:p.Ala324Gly		B4E288	Missense_Mutation	SNP	ENST00000450736.2	37	CCDS11713.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.756560	0.31137	.	.	ENSG00000170190	ENST00000329783;ENST00000450736;ENST00000538213	T;T;T	0.42513	0.97;0.97;0.97	4.72	-5.38	0.02673	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.644621	0.15354	N	0.266816	T	0.37758	0.1015	L	0.29908	0.895	0.09310	N	1	P;P	0.48407	0.822;0.91	P;P	0.51657	0.596;0.676	T	0.47861	-0.9084	10	0.62326	D	0.03	.	14.3245	0.66509	0.0:0.2305:0.0:0.7695	.	364;324	B4E288;O15375	.;MOT6_HUMAN	G	324;324;364	ENSP00000330141:A324G;ENSP00000390564:A324G;ENSP00000440212:A364G	ENSP00000330141:A324G	A	+	2	0	SLC16A5	70608324	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	0.062000	0.14389	-0.936000	0.03723	-0.367000	0.07326	GCA		0.617	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445547.1	NM_004695		291	546	291	546
DSG2	1829	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	18	29099849	29099849	+	Silent	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr18:29099849C>T	ENST00000261590.8	+	3	374	c.165C>T	c.(163-165)ccC>ccT	p.P55P	DSG2_ENST00000585206.1_Silent_p.P55P	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	55	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TCACCGCCCCCGTGGCTCTTC	0.443																																																0													69.0	71.0	70.0					18																	29099849		1876	4111	5987	SO:0001819	synonymous_variant	1829			Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.165C>T	18.37:g.29099849C>T			Q4KKU6	Silent	SNP	ENST00000261590.8	37	CCDS42423.1																																																																																				0.443	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		33	46	33	46
CCDC159	126075	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	11462650	11462650	+	Splice_Site	SNP	G	G	A			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr19:11462650G>A	ENST00000588790.1	+	8	937		c.e8+1		CCDC159_ENST00000458408.1_Splice_Site			P0C7I6	CC159_HUMAN	coiled-coil domain containing 159											endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						CAGAAGCTCCGTGAGTTCCTG	0.612																																																0													52.0	58.0	56.0					19																	11462650		1997	4146	6143	SO:0001630	splice_region_variant	126075			BC038439	CCDS45976.1	19p13.2	2010-02-17			ENSG00000183401	ENSG00000183401			26996	protein-coding gene	gene with protein product							Standard	NM_001080503		Approved		uc010xlt.2	P0C7I6		ENST00000588790.1:c.490+1G>A	19.37:g.11462650G>A			B4DEG3|B4DWR8|B4E133|B7ZAM4	Splice_Site	SNP	ENST00000588790.1	37	CCDS45976.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.273022	0.23221	.	.	ENSG00000183401	ENST00000458408;ENST00000427879	.	.	.	4.53	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.236	0.65927	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC159	11323650	1.000000	0.71417	1.000000	0.80357	0.049000	0.14656	4.574000	0.60900	2.073000	0.62155	0.555000	0.69702	.		0.612	CCDC159-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458761.1	NM_001080503	Intron	8	14	8	14
ZNF429	353088	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	21720518	21720518	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr19:21720518C>A	ENST00000358491.4	+	4	1871	c.1663C>A	c.(1663-1665)Cat>Aat	p.H555N	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	555					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						ACTTACTCAACATAAGAAAAT	0.353																																																0													43.0	48.0	46.0					19																	21720518		2125	4265	6390	SO:0001583	missense	353088			AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.1663C>A	19.37:g.21720518C>A	ENSP00000351280:p.His555Asn		A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	37	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	14.16	2.452417	0.43531	.	.	ENSG00000197013	ENST00000358491	D	0.86865	-2.18	0.876	0.876	0.19138	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94703	0.8291	H	0.96691	3.865	0.33209	D	0.553162	D	0.89917	1.0	D	0.91635	0.999	D	0.93418	0.6774	9	0.87932	D	0	.	8.5632	0.33523	0.0:1.0:0.0:0.0	.	555	Q86V71	ZN429_HUMAN	N	555	ENSP00000351280:H555N	ENSP00000351280:H555N	H	+	1	0	ZNF429	21512358	0.863000	0.29885	0.058000	0.19502	0.058000	0.15608	3.561000	0.53770	0.293000	0.22520	0.298000	0.19748	CAT		0.353	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415		14	45	14	45
SPTBN4	57731	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	40998962	40998962	+	Splice_Site	SNP	G	G	A			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr19:40998962G>A	ENST00000352632.3	+	5	673		c.e5+1		SPTBN4_ENST00000598249.1_Splice_Site|SPTBN4_ENST00000338932.3_Splice_Site|SPTBN4_ENST00000344104.3_Splice_Site|SPTBN4_ENST00000595535.1_Splice_Site			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4						actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGACAGCTGGGTAAGCACCCC	0.522																																																0													96.0	75.0	82.0					19																	40998962		2203	4300	6503	SO:0001630	splice_region_variant	57731			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.587+1G>A	19.37:g.40998962G>A			E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Splice_Site	SNP	ENST00000352632.3	37	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173093	0.57584	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	.	.	.	3.73	3.73	0.42828	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4617	0.67453	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPTBN4	45690802	1.000000	0.71417	1.000000	0.80357	0.628000	0.37860	9.567000	0.98161	1.927000	0.55829	0.281000	0.19383	.		0.522	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2		Intron	6	18	6	18
FLG	2312	hgsc.bcm.edu;broad.mit.edu	37	1	152278733	152278733	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr1:152278733G>T	ENST00000368799.1	-	3	8664	c.8629C>A	c.(8629-8631)Caa>Aaa	p.Q2877K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2877	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTCTGATTGTCCCTGGACT	0.577									Ichthyosis																																							0													128.0	207.0	181.0					1																	152278733		2102	4296	6398	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8629C>A	1.37:g.152278733G>T	ENSP00000357789:p.Gln2877Lys		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	9.273	1.046170	0.19748	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.03330	3.97	3.37	-3.7	0.04437	.	.	.	.	.	T	0.01029	0.0034	M	0.65975	2.015	0.09310	N	1	B	0.21452	0.056	B	0.15870	0.014	T	0.50056	-0.8872	9	0.06625	T	0.88	.	8.6919	0.34271	0.1006:0.5507:0.3487:0.0	.	2877	P20930	FILA_HUMAN	K	2877;139	ENSP00000357789:Q2877K	ENSP00000357786:Q139K	Q	-	1	0	FLG	150545357	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.555000	0.05999	-1.210000	0.02627	-2.382000	0.00231	CAA		0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		101	402	101	402
CRNN	49860	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	152382287	152382287	+	Missense_Mutation	SNP	C	C	T	rs150002541		TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr1:152382287C>T	ENST00000271835.3	-	3	1333	c.1271G>A	c.(1270-1272)cGc>cAc	p.R424H	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	424					response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCACACAGCGCCTTGGGTG	0.602																																																0													130.0	96.0	108.0					1																	152382287		2203	4300	6503	SO:0001583	missense	49860			AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.1271G>A	1.37:g.152382287C>T	ENSP00000271835:p.Arg424His		B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	C	1.445	-0.566464	0.03910	.	.	ENSG00000143536	ENST00000271835	T	0.04360	3.64	3.21	7.04E-4	0.14043	.	1.038600	0.07643	N	0.930585	T	0.00875	0.0029	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48937	-0.8990	10	0.15499	T	0.54	.	5.2824	0.15682	0.0:0.5968:0.1715:0.2317	.	424	Q9UBG3	CRNN_HUMAN	H	424	ENSP00000271835:R424H	ENSP00000271835:R424H	R	-	2	0	CRNN	150648911	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.599000	0.05700	-0.567000	0.06046	-1.318000	0.01297	CGC		0.602	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		17	40	17	40
C4BPB	725	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	207265091	207265091	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr1:207265091T>A	ENST00000243611.5	+	3	629	c.335T>A	c.(334-336)aTc>aAc	p.I112N	C4BPB_ENST00000367078.3_Missense_Mutation_p.I112N|C4BPB_ENST00000451804.2_Missense_Mutation_p.I102N|C4BPB_ENST00000367076.3_Missense_Mutation_p.I111N|C4BPB_ENST00000391923.1_Missense_Mutation_p.I112N	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	112	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)				breast(2)|lung(1)|ovary(1)	4						GACCACTACATCCTCAAGGGC	0.493																																																0													129.0	111.0	117.0					1																	207265091		2203	4300	6503	SO:0001583	missense	725			L11245	CCDS1476.1, CCDS31005.1	1q32	2008-07-18	2001-11-28		ENSG00000123843	ENSG00000123843			1328	protein-coding gene	gene with protein product	"""complement component 4 binding protein, beta chain"", ""C4b binding protein, beta chain"""	120831	"""complement component 4-binding protein, beta"""	C4BP		2300577, 8325877	Standard	XM_005273255		Approved		uc001hfj.3	P20851	OTTHUMG00000036035	ENST00000243611.5:c.335T>A	1.37:g.207265091T>A	ENSP00000243611:p.Ile112Asn		A5JYP8|D3DT81|Q5VVR0|Q9BS25	Missense_Mutation	SNP	ENST00000243611.5	37	CCDS1476.1	.	.	.	.	.	.	.	.	.	.	T	16.47	3.132904	0.56828	.	.	ENSG00000123843	ENST00000367078;ENST00000452902;ENST00000243611;ENST00000367076;ENST00000391923;ENST00000451804	T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	5.04	5.04	0.67666	Complement control module (2);Sushi/SCR/CCP (3);	0.229124	0.30809	N	0.008827	T	0.68742	0.3034	L	0.46947	1.48	0.31774	N	0.63177	D;D;D;D	0.76494	0.999;0.997;0.992;0.99	D;D;D;D	0.72338	0.977;0.959;0.947;0.912	T	0.67558	-0.5640	10	0.17369	T	0.5	-6.0645	11.1008	0.48172	0.0:0.0:0.0:1.0	.	102;102;112;111	E7EQT9;B4DDY0;P20851;P20851-2	.;.;C4BPB_HUMAN;.	N	112;112;112;111;112;102	ENSP00000356045:I112N;ENSP00000392237:I112N;ENSP00000243611:I112N;ENSP00000356043:I111N;ENSP00000375790:I112N;ENSP00000405649:I102N	ENSP00000243611:I112N	I	+	2	0	C4BPB	205331714	0.951000	0.32395	0.551000	0.28230	0.877000	0.50540	2.043000	0.41231	2.127000	0.65507	0.482000	0.46254	ATC		0.493	C4BPB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087847.2	NM_000716		8	59	8	59
OBSCN	84033	hgsc.bcm.edu;ucsc.edu	37	1	228486408	228486408	+	Intron	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr1:228486408C>T	ENST00000422127.1	+	43	11703				OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000359599.6_3'UTR|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000570156.2_Silent_p.L4400L|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000366707.4_Silent_p.L1090L	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGGCCACGCTCACTGTCAGGG	0.547																																																0													96.0	80.0	85.0					1																	228486408		876	1991	2867	SO:0001627	intron_variant	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.11659+3664C>T	1.37:g.228486408C>T			Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	CCDS58065.1																																																																																				0.547	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		24	33	24	33
UCKL1	54963	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	62577859	62577859	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr20:62577859C>T	ENST00000354216.6	-	2	293	c.251G>A	c.(250-252)cGg>cAg	p.R84Q	UCKL1_ENST00000358711.3_Missense_Mutation_p.R84Q|UCKL1_ENST00000492660.1_5'UTR|UCKL1_ENST00000369908.5_Missense_Mutation_p.R69Q|UCKL1_ENST00000369892.3_Missense_Mutation_p.R84Q	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	84					CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCAGGGCGGCCGCCCGGCGGT	0.677																																																0													60.0	55.0	57.0					20																	62577859		2202	4294	6496	SO:0001583	missense	54963			AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"""uridine kinase-like 1"""	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.251G>A	20.37:g.62577859C>T	ENSP00000346155:p.Arg84Gln		B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Missense_Mutation	SNP	ENST00000354216.6	37	CCDS13547.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.917149	0.73098	.	.	ENSG00000198276	ENST00000354216;ENST00000369892;ENST00000358711;ENST00000369908;ENST00000418992	.	.	.	4.56	4.56	0.56223	.	0.000000	0.64402	D	0.000001	T	0.78898	0.4356	M	0.78916	2.43	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.77004	0.989;0.727	T	0.82022	-0.0663	9	0.62326	D	0.03	-36.5592	15.4917	0.75611	0.0:1.0:0.0:0.0	.	69;84	B7Z8N2;Q9NWZ5	.;UCKL1_HUMAN	Q	84;84;84;69;69	.	ENSP00000346155:R84Q	R	-	2	0	UCKL1	62048303	1.000000	0.71417	0.975000	0.42487	0.005000	0.04900	7.330000	0.79181	2.063000	0.61619	0.313000	0.20887	CGG		0.677	UCKL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080236.1	NM_017859		17	15	17	15
APOB	338	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	21226162	21226162	+	Silent	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr2:21226162C>T	ENST00000233242.1	-	29	12259	c.12132G>A	c.(12130-12132)agG>agA	p.R4044R	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4044					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTCCCGGACCCTCAACTCAG	0.393																																																0													207.0	232.0	223.0					2																	21226162		2203	4300	6503	SO:0001819	synonymous_variant	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.12132G>A	2.37:g.21226162C>T			O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	CCDS1703.1																																																																																				0.393	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			114	268	114	268
MFSD6	54842	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	191301884	191301884	+	Missense_Mutation	SNP	G	G	A	rs554501896		TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr2:191301884G>A	ENST00000392328.1	+	3	1453	c.1129G>A	c.(1129-1131)Gtt>Att	p.V377I	MFSD6_ENST00000281416.7_Missense_Mutation_p.V377I	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	377					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						CGTCTTCGGCGTTCTCATGAC	0.512													G|||	1	0.000199681	0.0008	0.0	5008	,	,		23425	0.0		0.0	False		,,,				2504	0.0															0													83.0	70.0	74.0					2																	191301884		2203	4300	6503	SO:0001583	missense	54842				CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.1129G>A	2.37:g.191301884G>A	ENSP00000376141:p.Val377Ile		D3KSZ4|Q86TH2|Q9NXM3	Missense_Mutation	SNP	ENST00000392328.1	37	CCDS2306.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376776	0.82682	.	.	ENSG00000151690	ENST00000392328;ENST00000281416	T;T	0.80304	-1.36;-1.36	6.16	6.16	0.99307	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.83031	0.5166	N	0.24115	0.695	0.80722	D	1	D	0.65815	0.995	D	0.62955	0.909	T	0.81564	-0.0875	10	0.38643	T	0.18	-28.433	19.848	0.96722	0.0:0.0:1.0:0.0	.	377	Q6ZSS7	MFSD6_HUMAN	I	377	ENSP00000376141:V377I;ENSP00000281416:V377I	ENSP00000281416:V377I	V	+	1	0	MFSD6	191010129	1.000000	0.71417	0.933000	0.37362	0.839000	0.47603	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	GTT		0.512	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255931.1			19	31	19	31
SLC25A38	54977	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	39431997	39431997	+	Splice_Site	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr3:39431997C>T	ENST00000273158.4	+	3	652	c.275C>T	c.(274-276)cCt>cTt	p.P92L		NM_017875.2	NP_060345.2			solute carrier family 25, member 38											breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GGGATGTCCCCTGTAAGCTGC	0.478																																																0													193.0	184.0	187.0					3																	39431997		2203	4300	6503	SO:0001630	splice_region_variant	54977			BC013194	CCDS2685.1	3p22.1	2013-05-22			ENSG00000144659	ENSG00000144659		"""Solute carriers"""	26054	protein-coding gene	gene with protein product		610819				16949250	Standard	NM_017875		Approved	FLJ20551	uc003cjo.2	Q96DW6	OTTHUMG00000131289	ENST00000273158.4:c.276+1C>T	3.37:g.39431997C>T				Splice_Site	SNP	ENST00000273158.4	37	CCDS2685.1	.	.	.	.	.	.	.	.	.	.	c	31	5.104653	0.94245	.	.	ENSG00000144659	ENST00000273158;ENST00000431510	D;D	0.81739	-1.53;-1.53	4.99	4.99	0.66335	Mitochondrial carrier domain (2);	0.049507	0.85682	D	0.000000	D	0.91222	0.7234	M	0.90145	3.09	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92575	0.6069	10	0.56958	D	0.05	-17.6854	15.8374	0.78808	0.0:1.0:0.0:0.0	.	92	Q96DW6	S2538_HUMAN	L	92;88	ENSP00000273158:P92L;ENSP00000394244:P88L	ENSP00000273158:P92L	P	+	2	0	SLC25A38	39407001	1.000000	0.71417	0.979000	0.43373	0.987000	0.75469	7.427000	0.80284	2.334000	0.79466	0.650000	0.86243	CCT		0.478	SLC25A38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254057.3	NM_017875	Missense_Mutation	13	58	13	58
KDR	3791	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	55956204	55956204	+	Silent	SNP	C	C	T	rs147630437		TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr4:55956204C>T	ENST00000263923.4	-	23	3406	c.3111G>A	c.(3109-3111)tcG>tcA	p.S1037S	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1037	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CGTTCTTCTCCGATAAGAGGA	0.428			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																													Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	0								C		0,4406		0,0,2203	98.0	95.0	96.0		3111	-2.3	1.0	4	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KDR	NM_002253.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1037/1357	55956204	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3791			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.3111G>A	4.37:g.55956204C>T			A2RRS0|B5A925|C5IFA0|O60723|Q14178	Silent	SNP	ENST00000263923.4	37	CCDS3497.1																																																																																				0.428	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			27	53	27	53
SEC31A	22872	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	83763471	83763471	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr4:83763471G>C	ENST00000395310.2	-	22	2972	c.2790C>G	c.(2788-2790)caC>caG	p.H930Q	SEC31A_ENST00000355196.2_Missense_Mutation_p.H930Q|SEC31A_ENST00000443462.2_Missense_Mutation_p.H925Q|SEC31A_ENST00000311785.7_Intron|SEC31A_ENST00000500777.2_Intron|SEC31A_ENST00000432794.1_Missense_Mutation_p.H930Q|SEC31A_ENST00000448323.1_Missense_Mutation_p.H930Q|SEC31A_ENST00000264405.5_Missense_Mutation_p.H694Q|SEC31A_ENST00000508502.1_Missense_Mutation_p.H930Q|SEC31A_ENST00000513858.1_Intron|SEC31A_ENST00000326950.5_Missense_Mutation_p.H891Q|SEC31A_ENST00000505472.1_Missense_Mutation_p.H961Q|SEC31A_ENST00000509142.1_Intron|SEC31A_ENST00000505984.1_Missense_Mutation_p.H891Q|SEC31A_ENST00000348405.4_Missense_Mutation_p.H891Q	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	930	Interaction with PDCD6.|Pro-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				AAGAGGCCTGGTGCTGTGCTG	0.552																																																0													95.0	77.0	83.0					4																	83763471		2203	4300	6503	SO:0001583	missense	22872			AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.2790C>G	4.37:g.83763471G>C	ENSP00000378721:p.His930Gln		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Missense_Mutation	SNP	ENST00000395310.2	37	CCDS3596.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.300|5.300	0.240791|0.240791	0.10077|0.10077	.|.	.|.	ENSG00000138674|ENSG00000138674	ENST00000348405;ENST00000395310;ENST00000443462;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000505472;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984|ENST00000503937	T;T;T;T;T;T;T;T;T;T;T|.	0.35973|.	1.47;2.54;2.52;2.44;2.54;1.47;1.28;2.53;2.54;3.38;2.44|.	5.83|5.83	3.91|3.91	0.45181|0.45181	.|.	0.336600|.	0.31797|.	N|.	0.007044|.	T|T	0.38852|0.38852	0.1056|0.1056	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	B;P;P;B;B;P;B|.	0.46621|.	0.167;0.553;0.61;0.256;0.203;0.881;0.24|.	B;B;B;B;B;B;B|.	0.39971|.	0.085;0.205;0.134;0.113;0.036;0.315;0.108|.	T|T	0.13045|0.13045	-1.0524|-1.0524	10|5	0.21014|.	T|.	0.42|.	-5.7809|-5.7809	7.5349|7.5349	0.27704|0.27704	0.1414:0.2124:0.6462:0.0|0.1414:0.2124:0.6462:0.0	.|.	925;891;891;930;930;694;930|.	B4DIW6;B7ZL00;O94979-4;O94979-2;O94979;O94979-7;O94979-8|.	.;.;.;.;SC31A_HUMAN;.;.|.	Q|S	891;930;925;930;930;891;961;930;930;694;891|80	ENSP00000337602:H891Q;ENSP00000378721:H930Q;ENSP00000408027:H925Q;ENSP00000407944:H930Q;ENSP00000400926:H930Q;ENSP00000325087:H891Q;ENSP00000421633:H961Q;ENSP00000424635:H930Q;ENSP00000347329:H930Q;ENSP00000264405:H694Q;ENSP00000424451:H891Q|.	ENSP00000264405:H694Q|.	H|T	-|-	3|2	2|0	SEC31A|SEC31A	83982495|83982495	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.795000|0.795000	0.44927|0.44927	3.581000|3.581000	0.53914|0.53914	1.190000|1.190000	0.43042|0.43042	0.563000|0.563000	0.77884|0.77884	CAC|ACC		0.552	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		10	16	10	16
RXFP1	59350	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	159526262	159526262	+	Silent	SNP	C	C	T	rs367796878		TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr4:159526262C>T	ENST00000307765.5	+	5	686	c.435C>T	c.(433-435)tgC>tgT	p.C145C	RXFP1_ENST00000448688.2_Silent_p.C64C|RXFP1_ENST00000423548.1_Silent_p.C145C|RXFP1_ENST00000470033.1_Silent_p.C112C|RXFP1_ENST00000343542.5_Silent_p.C145C|RXFP1_ENST00000460056.2_Silent_p.C64C	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	145					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CTCCTGATTGCTTCAAGAATT	0.299													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18202	0.0		0.0	False		,,,				2504	0.0															0								C		1,3627		0,1,1813	48.0	46.0	47.0		435	2.9	1.0	4		47	0,8132		0,0,4066	no	coding-synonymous	RXFP1	NM_021634.2		0,1,5879	TT,TC,CC		0.0,0.0276,0.0085		145/758	159526262	1,11759	1814	4066	5880	SO:0001819	synonymous_variant	59350			AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"""GPCR / Class A : Relaxin family peptide receptors"""	19718	protein-coding gene	gene with protein product		606654	"""leucine-rich repeat-containing G protein-coupled receptor 7"""	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.435C>T	4.37:g.159526262C>T			B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Silent	SNP	ENST00000307765.5	37	CCDS43276.1																																																																																				0.299	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634		11	30	11	30
ZFP42	132625	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	188924355	188924355	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr4:188924355C>T	ENST00000326866.4	+	4	802	c.394C>T	c.(394-396)Cca>Tca	p.P132S	ZFP42_ENST00000509524.1_Missense_Mutation_p.P132S	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	132					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GAAAGAGCTTCCACAAAAGAT	0.418																																																0													93.0	102.0	99.0					4																	188924355		2203	4300	6503	SO:0001583	missense	132625			AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.394C>T	4.37:g.188924355C>T	ENSP00000317686:p.Pro132Ser		D3DP65|Q8WXE2	Missense_Mutation	SNP	ENST00000326866.4	37	CCDS3849.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.702083	0.30232	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.13089	2.62;2.62	4.17	1.41	0.22369	.	0.463995	0.19454	N	0.113872	T	0.06280	0.0162	L	0.29908	0.895	0.09310	N	1	B	0.23058	0.079	B	0.18263	0.021	T	0.35425	-0.9789	10	0.08837	T	0.75	.	0.9866	0.01447	0.1944:0.4239:0.1748:0.207	.	132	Q96MM3	ZFP42_HUMAN	S	132	ENSP00000317686:P132S;ENSP00000424662:P132S	ENSP00000317686:P132S	P	+	1	0	ZFP42	189161349	0.064000	0.20934	0.001000	0.08648	0.028000	0.11728	-0.189000	0.09629	0.275000	0.22094	0.655000	0.94253	CCA		0.418	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		46	80	46	80
PCDHB13	56123	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	140594885	140594885	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr5:140594885C>T	ENST00000341948.4	+	1	1377	c.1190C>T	c.(1189-1191)gCg>gTg	p.A397V		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	397	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGAAATCCGCGGAAAACTTT	0.453																																																0													88.0	88.0	88.0					5																	140594885		2203	4300	6503	SO:0001583	missense	56123			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1190C>T	5.37:g.140594885C>T	ENSP00000345491:p.Ala397Val		A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	N	1.475	-0.558750	0.03967	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.01871	4.59	3.5	-7.0	0.01599	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.00384	0.0012	N	0.00077	-2.24	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.41378	-0.9512	9	0.02654	T	1	.	0.9798	0.01433	0.4075:0.2613:0.1187:0.2125	.	397	Q9Y5F0	PCDBD_HUMAN	V	397	ENSP00000345491:A397V	ENSP00000345491:A397V	A	+	2	0	PCDHB13	140575069	0.000000	0.05858	0.000000	0.03702	0.359000	0.29487	-0.329000	0.07935	-1.588000	0.01627	-0.708000	0.03648	GCG		0.453	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		25	56	25	56
GRM6	2916	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	178418950	178418951	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr5:178418950_178418951CC>AT	ENST00000517717.1	-	3	676_677	c.638_639GG>AT	c.(637-639)tGG>tAT	p.W213Y	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.W213Y			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	213					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		ACACATAGTTCCATCCCAGTGC	0.624																																																0																																										SO:0001583	missense	2916			U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.638_639delinsAT	5.37:g.178418950_178418951delinsAT	ENSP00000430767:p.Trp213Tyr			Missense_Mutation|Nonsense_Mutation	SNP	ENST00000517717.1	37	CCDS4442.1																																																																																				0.624	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			10	24|23	10	23
HIVEP1	3096	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	12122495	12122495	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr6:12122495G>C	ENST00000379388.2	+	4	2799	c.2467G>C	c.(2467-2469)Gtg>Ctg	p.V823L		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	823					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ATCAAAGCAAGTGTTTCTTCT	0.403																																																0													147.0	138.0	141.0					6																	12122495		1900	4119	6019	SO:0001583	missense	3096			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.2467G>C	6.37:g.12122495G>C	ENSP00000368698:p.Val823Leu		B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.849286	0.91277	.	.	ENSG00000095951	ENST00000379388	T	0.28895	1.59	6.01	6.01	0.97437	.	0.000000	0.33005	N	0.005391	T	0.54532	0.1864	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.51741	-0.8667	9	.	.	.	-21.4334	20.5211	0.99222	0.0:0.0:1.0:0.0	.	823	P15822	ZEP1_HUMAN	L	823	ENSP00000368698:V823L	.	V	+	1	0	HIVEP1	12230481	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.954000	0.87848	2.861000	0.98227	0.650000	0.86243	GTG		0.403	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		80	36	80	36
PTCHD4	442213	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	47846810	47846810	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr6:47846810A>C	ENST00000339488.4	-	3	1803	c.1770T>G	c.(1768-1770)aaT>aaG	p.N590K		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	590						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										AGATGATATCATTTCGAAAAT	0.423																																																0													61.0	62.0	62.0					6																	47846810		2203	4300	6503	SO:0001583	missense	442213				CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.1770T>G	6.37:g.47846810A>C	ENSP00000341914:p.Asn590Lys		B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	A	9.098	1.003356	0.19121	.	.	ENSG00000244694	ENST00000339488	D	0.84730	-1.89	5.48	-5.58	0.02512	.	0.102556	0.64402	D	0.000003	T	0.58032	0.2094	L	0.44542	1.39	0.80722	D	1	B	0.21071	0.051	B	0.25759	0.063	T	0.55036	-0.8203	10	0.06236	T	0.91	.	15.2769	0.73748	0.543:0.0:0.457:0.0	.	590	Q6ZW05	CF138_HUMAN	K	590	ENSP00000341914:N590K	ENSP00000341914:N590K	N	-	3	2	C6orf138	47954769	0.064000	0.20934	0.714000	0.30535	0.984000	0.73092	-0.459000	0.06728	-1.557000	0.01692	-0.924000	0.02725	AAT		0.423	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		44	13	44	13
PRDM13	59336	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	100062566	100062566	+	Missense_Mutation	SNP	C	C	G	rs371900807		TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr6:100062566C>G	ENST00000369215.4	+	4	2360	c.2055C>G	c.(2053-2055)gaC>gaG	p.D685E		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	685					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		ACGACAGTGACGTGGACGTCT	0.701																																																0													27.0	30.0	29.0					6																	100062566		1744	3847	5591	SO:0001583	missense	59336			AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.2055C>G	6.37:g.100062566C>G	ENSP00000358217:p.Asp685Glu		Q5TGC1|Q5TGC2	Missense_Mutation	SNP	ENST00000369215.4	37	CCDS43487.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.849228	0.51270	.	.	ENSG00000112238	ENST00000369215;ENST00000369214	T;T	0.06371	3.31;3.32	5.8	2.75	0.32379	.	0.000000	0.43747	D	0.000523	T	0.01254	0.0041	N	0.19112	0.55	0.31318	N	0.686321	P	0.43750	0.816	B	0.38616	0.277	T	0.53989	-0.8360	10	0.31617	T	0.26	-34.8029	6.5707	0.22537	0.0:0.6072:0.1229:0.2699	.	685	Q9H4Q3	PRD13_HUMAN	E	685;695	ENSP00000358217:D685E;ENSP00000358216:D695E	ENSP00000358216:D695E	D	+	3	2	PRDM13	100169287	0.998000	0.40836	1.000000	0.80357	0.978000	0.69477	0.653000	0.24902	0.249000	0.21456	0.655000	0.94253	GAC		0.701	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2			24	15	24	15
COG5	10466	hgsc.bcm.edu;broad.mit.edu	37	7	107167729	107167729	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr7:107167729C>T	ENST00000347053.3	-	6	634	c.584G>A	c.(583-585)gGg>gAg	p.G195E	COG5_ENST00000475638.2_5'UTR|COG5_ENST00000297135.3_Missense_Mutation_p.G195E|COG5_ENST00000393603.2_Missense_Mutation_p.G195E	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	195					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						TCTACTTCCCCCTTGCAGTTG	0.338																																																0													101.0	93.0	95.0					7																	107167729		2203	4300	6503	SO:0001583	missense	10466			AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"""Components of oligomeric golgi complex"""	14857	protein-coding gene	gene with protein product		606821	"""golgi transport complex 1 (90 kDa subunit)"""	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.584G>A	7.37:g.107167729C>T	ENSP00000334703:p.Gly195Glu		A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	ENST00000347053.3	37	CCDS5743.1	.	.	.	.	.	.	.	.	.	.	C	33	5.227669	0.95173	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.19105	2.18;2.17;2.17	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.46171	0.1379	M	0.76574	2.34	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70016	0.956;0.967	T	0.21381	-1.0247	10	0.15499	T	0.54	-10.1045	19.6818	0.95967	0.0:1.0:0.0:0.0	.	195;195	Q9UP83;Q9UP83-2	COG5_HUMAN;.	E	195	ENSP00000334703:G195E;ENSP00000297135:G195E;ENSP00000377228:G195E	ENSP00000297135:G195E	G	-	2	0	COG5	106954965	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.677000	0.68142	2.724000	0.93272	0.650000	0.86243	GGG		0.338	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060216.4			17	15	17	15
CXorf22	170063	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	35985795	35985795	+	Missense_Mutation	SNP	C	C	T	rs369720331		TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chrX:35985795C>T	ENST00000297866.5	+	10	1726	c.1660C>T	c.(1660-1662)Cgc>Tgc	p.R554C		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	554										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CTTGGCAAAACGCAAGAATTA	0.393																																																0								C	CYS/ARG	0,3833		0,0,1631,571	121.0	101.0	108.0		1660	-10.1	0.0	X		108	1,6727		0,1,2427,1872	no	missense	CXorf22	NM_152632.3	180	0,1,4058,2443	TT,TC,CC,C		0.0149,0.0,0.0095	benign	554/977	35985795	1,10560	2202	4300	6502	SO:0001583	missense	0			BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.1660C>T	X.37:g.35985795C>T	ENSP00000297866:p.Arg554Cys		Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	C	10.87	1.471486	0.26423	0.0	1.49E-4	ENSG00000165164	ENST00000297866	T	0.13901	2.55	5.07	-10.1	0.00402	.	1.146510	0.06263	N	0.694209	T	0.03783	0.0107	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.36915	-0.9728	10	0.38643	T	0.18	-28.5459	0.2978	0.00268	0.3628:0.1526:0.2139:0.2707	.	554	Q6ZTR5	CX022_HUMAN	C	554	ENSP00000297866:R554C	ENSP00000297866:R554C	R	+	1	0	CXorf22	35895716	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.468000	0.06656	-2.576000	0.00465	-0.365000	0.07479	CGC		0.393	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		18	54	18	54
APEX2	27301	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	55033526	55033526	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chrX:55033526A>T	ENST00000374987.3	+	6	1281	c.1215A>T	c.(1213-1215)caA>caT	p.Q405H	ALAS2_ENST00000498636.1_5'Flank	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	405					base-excision repair (GO:0006284)|cell cycle (GO:0007049)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						GCTGTCCCCAAGCCTCTCCTG	0.587								Other BER factors																																								0													42.0	45.0	44.0					X																	55033526		2203	4300	6503	SO:0001583	missense	27301			AB021260	CCDS14365.1	Xp11.23	2014-02-18			ENSG00000169188	ENSG00000169188	4.2.99.18		17889	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 2"""	300773				11376153	Standard	NM_014481		Approved	APEXL2, APE2, XTH2, ZGRF2	uc004dtz.4	Q9UBZ4	OTTHUMG00000021642	ENST00000374987.3:c.1215A>T	X.37:g.55033526A>T	ENSP00000364126:p.Gln405His		Q9Y5X7	Missense_Mutation	SNP	ENST00000374987.3	37	CCDS14365.1	.	.	.	.	.	.	.	.	.	.	A	11.61	1.689085	0.29962	.	.	ENSG00000169188	ENST00000374987	T	0.60672	0.17	4.59	4.59	0.56863	.	0.966665	0.08542	N	0.930417	T	0.54078	0.1836	L	0.57536	1.79	0.09310	N	0.999999	B	0.19935	0.04	B	0.17722	0.019	T	0.44003	-0.9356	10	0.39692	T	0.17	-0.9589	8.6289	0.33906	0.8263:0.0:0.0:0.1737	.	405	Q9UBZ4	APEX2_HUMAN	H	405	ENSP00000364126:Q405H	ENSP00000364126:Q405H	Q	+	3	2	APEX2	55050251	0.967000	0.33354	0.007000	0.13788	0.258000	0.26162	3.091000	0.50199	1.779000	0.52309	0.486000	0.48141	CAA		0.587	APEX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056845.1			9	18	9	18
OPHN1	4983	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	67283790	67283790	+	Silent	SNP	G	G	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chrX:67283790G>T	ENST00000355520.5	-	21	2705	c.2064C>A	c.(2062-2064)gcC>gcA	p.A688A	OPHN1_ENST00000484842.1_5'UTR|OPHN1_ENST00000540071.1_Intron	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	688	Pro-rich.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						GTCCATTGGTGGCCTTTGGGG	0.607																																																0													65.0	49.0	54.0					X																	67283790		2203	4300	6503	SO:0001819	synonymous_variant	4983			AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"""Rho GTPase activating proteins"""	8148	protein-coding gene	gene with protein product		300127	"""mental retardation, X-linked 60"""	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.2064C>A	X.37:g.67283790G>T			B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Silent	SNP	ENST00000355520.5	37	CCDS14388.1																																																																																				0.607	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1	NM_002547		15	27	15	27
ACSL4	2182	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	108921235	108921235	+	Silent	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chrX:108921235C>T	ENST00000469796.2	-	8	1431	c.1035G>A	c.(1033-1035)ccG>ccA	p.P345P	ACSL4_ENST00000348502.6_Silent_p.P304P|ACSL4_ENST00000340800.2_Silent_p.P345P			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	345					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.P345P(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	AGAGTGTAAGCGGAGAAGAAT	0.428																																					Pancreas(188;358 2127 38547 41466 45492)											1	Substitution - coding silent(1)	endometrium(1)											142.0	126.0	131.0					X																	108921235		2203	4300	6503	SO:0001819	synonymous_variant	2182			BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"""Acyl-CoA synthetase family"""	3571	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", "" long-chain fatty-acid-Coenzyme A ligase 4"""	300157	"""fatty-acid-Coenzyme A ligase, long-chain 4"", ""mental retardation, X-linked 63"", ""mental retardation, X-linked 68"""	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.1035G>A	X.37:g.108921235C>T			D3DUY2|O60848|O60849|Q5JWV8	Silent	SNP	ENST00000469796.2	37	CCDS14548.1																																																																																				0.428	ACSL4-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358155.2	NM_004458		57	88	57	88
DCAF12L1	139170	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	125685930	125685930	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chrX:125685930C>T	ENST00000371126.1	-	1	904	c.662G>A	c.(661-663)cGg>cAg	p.R221Q		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	221										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CGGGTCCATCCGCCACAGCGC	0.657																																																0													34.0	35.0	34.0					X																	125685930		2203	4299	6502	SO:0001583	missense	139170			BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.662G>A	X.37:g.125685930C>T	ENSP00000360167:p.Arg221Gln		Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.347104	0.24426	.	.	ENSG00000198889	ENST00000371126	T	0.63255	-0.03	3.89	-7.77	0.01227	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.294574	0.18487	N	0.139762	T	0.43077	0.1231	L	0.35644	1.08	0.09310	N	1	B	0.25169	0.119	B	0.15484	0.013	T	0.02220	-1.1193	10	0.41790	T	0.15	.	12.5689	0.56326	0.0:0.1288:0.1003:0.7709	.	221	Q5VU92	DC121_HUMAN	Q	221	ENSP00000360167:R221Q	ENSP00000360167:R221Q	R	-	2	0	DCAF12L1	125513611	0.000000	0.05858	0.000000	0.03702	0.351000	0.29236	-0.412000	0.07132	-2.563000	0.00472	0.429000	0.28392	CGG		0.657	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		17	32	17	32
CXorf40B	541578	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	149100914	149100914	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chrX:149100914T>A	ENST00000370406.3	-	5	1153	c.325A>T	c.(325-327)Aat>Tat	p.N109Y	CXorf40B_ENST00000355203.2_Missense_Mutation_p.N109Y|CXorf40B_ENST00000462691.1_Missense_Mutation_p.N109Y|CXorf40B_ENST00000370404.1_Missense_Mutation_p.N109Y|XX-FW81066F1.2_ENST00000457775.1_RNA			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B	109										endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGCTTGATTTTCTAGTTCC	0.473																																																0													203.0	175.0	185.0					X																	149100914		2200	4299	6499	SO:0001583	missense	0			BC009523	CCDS35426.1	Xq28	2012-11-28			ENSG00000197021	ENSG00000197021			17402	protein-coding gene	gene with protein product							Standard	XM_005274698		Approved		uc004fdy.3	Q96DE9	OTTHUMG00000034327	ENST00000370406.3:c.325A>T	X.37:g.149100914T>A	ENSP00000359434:p.Asn109Tyr			Missense_Mutation	SNP	ENST00000370406.3	37	CCDS35426.1	.	.	.	.	.	.	.	.	.	.	t	10.26	1.300080	0.23650	.	.	ENSG00000197021	ENST00000462691;ENST00000370406;ENST00000355203;ENST00000370404	D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05	3.22	3.22	0.36961	PUA-like domain (1);	0.556675	0.19535	N	0.111935	D	0.92001	0.7466	M	0.72118	2.19	0.28154	N	0.929277	P	0.50528	0.936	P	0.48141	0.568	D	0.86980	0.2103	10	0.72032	D	0.01	-4.9379	10.4696	0.44629	0.0:0.0:0.0:1.0	.	109	Q96DE9	CX04B_HUMAN	Y	109	ENSP00000417546:N109Y;ENSP00000359434:N109Y;ENSP00000347339:N109Y;ENSP00000359432:N109Y	ENSP00000347339:N109Y	N	-	1	0	CXorf40B	148851572	0.982000	0.34865	0.003000	0.11579	0.008000	0.06430	2.202000	0.42743	1.093000	0.41377	0.242000	0.17961	AAT		0.473	CXorf40B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082896.2	NP_001013867		39	70	39	70
MYO5A	4644	broad.mit.edu;ucsc.edu	37	15	52622645	52622645	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr15:52622645C>T	ENST00000399231.3	-	34	4628	c.4385G>A	c.(4384-4386)cGa>cAa	p.R1462Q	MYO5A_ENST00000553916.1_Missense_Mutation_p.R1460Q|MYO5A_ENST00000356338.6_Missense_Mutation_p.R1435Q|MYO5A_ENST00000399233.2_Missense_Mutation_p.R1459Q|MYO5A_ENST00000358212.6_Missense_Mutation_p.R1487Q	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1462					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GTTGACTGGTCGGATGGGTTC	0.418																																																0													175.0	163.0	167.0					15																	52622645		1856	4084	5940	SO:0001583	missense	4644				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.4385G>A	15.37:g.52622645C>T	ENSP00000382177:p.Arg1462Gln		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609371	0.66558	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88	5.45	5.45	0.79879	.	0.169778	0.53938	D	0.000049	T	0.35219	0.0924	L	0.57536	1.79	0.53005	D	0.999969	D;B;P	0.55800	0.973;0.019;0.683	P;B;B	0.52710	0.707;0.01;0.072	T	0.03463	-1.1034	10	0.16420	T	0.52	.	13.5614	0.61790	0.0:0.9252:0.0:0.0748	.	192;1462;1435	B5LY56;Q9Y4I1;Q9Y4I1-2	.;MYO5A_HUMAN;.	Q	1462;969;1459;1435;1487;1065;1460	ENSP00000382177:R1462Q;ENSP00000382179:R1459Q;ENSP00000348693:R1435Q;ENSP00000350945:R1487Q;ENSP00000451109:R1460Q	ENSP00000348693:R1435Q	R	-	2	0	MYO5A	50409937	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	1.450000	0.35134	2.559000	0.86315	0.557000	0.71058	CGA		0.418	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		58	99	58	99
NCKAP1L	3071	broad.mit.edu;ucsc.edu	37	12	54902315	54902315	+	Splice_Site	SNP	G	G	A			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr12:54902315G>A	ENST00000293373.6	+	5	585	c.506G>A	c.(505-507)gGt>gAt	p.G169D	NCKAP1L_ENST00000545638.2_Splice_Site_p.G119D	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	169					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CATGGGCATGGGTGAGTTAAG	0.423																																																0													218.0	207.0	211.0					12																	54902315		2203	4300	6503	SO:0001630	splice_region_variant	3071			AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.506+1G>A	12.37:g.54902315G>A			B4DUT5|Q52LW0	Splice_Site	SNP	ENST00000293373.6	37	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.242675	0.58995	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.29655	1.56;1.56	5.72	4.82	0.62117	.	0.201788	0.49305	D	0.000143	T	0.20210	0.0486	N	0.08118	0	0.80722	D	1	B	0.21147	0.052	B	0.30179	0.112	T	0.05699	-1.0869	10	0.40728	T	0.16	-0.5203	14.5708	0.68210	0.0:0.1471:0.8529:0.0	.	169	P55160	NCKPL_HUMAN	D	169;119	ENSP00000293373:G169D;ENSP00000445596:G119D	ENSP00000293373:G169D	G	+	2	0	NCKAP1L	53188582	1.000000	0.71417	0.919000	0.36401	0.847000	0.48162	6.085000	0.71343	1.393000	0.46605	0.655000	0.94253	GGT		0.423	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337	Missense_Mutation	68	141	68	141
OR3A2	4995	broad.mit.edu;ucsc.edu	37	17	3181629	3181629	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr17:3181629T>A	ENST00000408891.2	-	1	639	c.601A>T	c.(601-603)Acc>Tcc	p.T201S	RP11-64J4.2_ENST00000573491.1_RNA	NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	201					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)			ovary(1)	1						TTGAGTTGGGTGCTGGAGCAG	0.552																																					GBM(166;478 2018 3875 5042 31983)|Esophageal Squamous(77;407 1232 1405 14297 15272)											0													78.0	72.0	74.0					17																	3181629		2203	4300	6503	SO:0001583	missense	4995			U04713	CCDS42233.1	17p13.3	2012-08-09				ENSG00000221882		"""GPCR / Class A : Olfactory receptors"""	8283	protein-coding gene	gene with protein product						8921386, 10673334	Standard	NM_002551		Approved	OLFRA04, OR228, OR17-228	uc002fvg.3	P47893		ENST00000408891.2:c.601A>T	17.37:g.3181629T>A	ENSP00000386180:p.Thr201Ser		Q6IFM3|Q9P1Q3	Missense_Mutation	SNP	ENST00000408891.2	37	CCDS42233.1	.	.	.	.	.	.	.	.	.	.	T	17.13	3.311715	0.60414	.	.	ENSG00000221882	ENST00000408891	T	0.00207	8.55	4.9	3.82	0.43975	GPCR, rhodopsin-like superfamily (1);	0.128372	0.35495	N	0.003165	T	0.00384	0.0012	M	0.77406	2.37	0.21386	N	0.999703	P	0.39480	0.675	P	0.53185	0.72	T	0.16424	-1.0403	10	0.72032	D	0.01	-21.6715	5.982	0.19413	0.1457:0.0823:0.0:0.772	.	201	P47893	OR3A2_HUMAN	S	201	ENSP00000386180:T201S	ENSP00000386180:T201S	T	-	1	0	OR3A2	3128379	0.956000	0.32656	0.992000	0.48379	0.859000	0.49053	1.886000	0.39688	1.004000	0.39156	-0.375000	0.07067	ACC		0.552	OR3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438370.1			28	62	28	62
PTEN	5728	broad.mit.edu;hgsc.bcm.edu	37	10	89720803	89720804	+	Frame_Shift_Ins	INS	-	-	A	rs398123330		TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr10:89720803_89720804insA	ENST00000371953.3	+	8	2311_2312	c.954_955insA	c.(955-957)actfs	p.T319fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	319	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.		Missing (in glioma; reduced tumor suppressor activity; fails to inactivate AKT/PKB). {ECO:0000269|PubMed:9090379}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.L318fs*2(27)|p.T319fs*1(24)|p.T319fs*6(6)|p.R55fs*1(5)|p.V317fs*3(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319del(2)|p.V317fs*6(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.L318fs*3(1)|p.L316fs*1(1)|p.T319fs*4(1)|p.W274_F341del(1)|p.V317_K322del(1)|p.T318fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ATCTAGTACTTACTTTAACAAA	0.327		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	121	Deletion - Frameshift(70)|Whole gene deletion(37)|Deletion - In frame(6)|Insertion - Frameshift(6)|Unknown(2)	endometrium(38)|central_nervous_system(29)|prostate(17)|skin(8)|breast(7)|ovary(6)|lung(4)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|soft_tissue(2)|urinary_tract(2)|liver(2)	GRCh37	CD972424|CI075686	PTEN	D|I	rs146650273																																			SO:0001589	frameshift_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.955dupA	10.37:g.89720804_89720804dupA	ENSP00000361021:p.Thr319fs		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Ins	INS	ENST00000371953.3	37	CCDS31238.1																																																																																				0.327	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		57	24	57	24
