#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
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50.0	50.0	50.0					17																	7578406		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		28	62	28	62
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7578467	7578467	+	Missense_Mutation	SNP	T	T	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr17:7578467T>G	ENST00000269305.4	-	5	652	c.463A>C	c.(463-465)Acc>Ccc	p.T155P	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.T155P|TP53_ENST00000413465.2_Missense_Mutation_p.T155P|TP53_ENST00000420246.2_Missense_Mutation_p.T155P|TP53_ENST00000445888.2_Missense_Mutation_p.T155P|TP53_ENST00000359597.4_Missense_Mutation_p.T155P	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	155	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1868473}.|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation; does not induce SNAI1 degradation). {ECO:0000269|PubMed:14660794}.|T -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.T155P(17)|p.T155A(10)|p.0?(8)|p.?(5)|p.P152fs*14(5)|p.G154fs*14(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.P151_V173del23(1)|p.G154_R156delGTR(1)|p.T155fs*26(1)|p.T155fs*25(1)|p.D148_T155delDSTPPPGT(1)|p.T62P(1)|p.T23P(1)|p.D148fs*23(1)|p.T62A(1)|p.T23A(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.T155fs*15(1)|p.T155_R156delTR(1)|p.T155S(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CGGACGCGGGTGCCGGGCGGG	0.612		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	67	Substitution - Missense(32)|Deletion - Frameshift(16)|Whole gene deletion(8)|Deletion - In frame(5)|Unknown(5)|Insertion - Frameshift(1)	lung(18)|ovary(9)|oesophagus(7)|skin(6)|bone(5)|stomach(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|breast(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|pancreas(2)|urinary_tract(1)|liver(1)|prostate(1)											50.0	52.0	51.0					17																	7578467		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.463A>C	17.37:g.7578467T>G	ENSP00000269305:p.Thr155Pro		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	12.45	1.941154	0.34283	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99789	-6.75;-6.75;-6.75;-6.75;-6.75;-6.75;-6.75;-6.75;-6.75	5.59	0.31	0.15825	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.718085	0.14119	N	0.340173	D	0.99483	0.9816	M	0.76328	2.33	0.09310	N	1	D;P;B;D;P;P;D	0.63046	0.989;0.736;0.19;0.976;0.662;0.881;0.992	D;P;B;D;P;P;D	0.67900	0.954;0.743;0.256;0.928;0.833;0.874;0.937	D	0.98829	1.0750	10	0.72032	D	0.01	-6.4954	2.9983	0.06005	0.3258:0.3217:0.0:0.3525	.	116;155;155;62;155;155;155	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	P	155;155;155;155;155;155;144;62;23;62;23;155	ENSP00000410739:T155P;ENSP00000352610:T155P;ENSP00000269305:T155P;ENSP00000398846:T155P;ENSP00000391127:T155P;ENSP00000391478:T155P;ENSP00000425104:T23P;ENSP00000423862:T62P;ENSP00000424104:T155P	ENSP00000269305:T155P	T	-	1	0	TP53	7519192	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.301000	0.08232	0.124000	0.18369	0.533000	0.62120	ACC		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		45	48	45	48
KRT33A	3883	hgsc.bcm.edu;broad.mit.edu	37	17	39502881	39502881	+	Missense_Mutation	SNP	G	G	A	rs148488457		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr17:39502881G>A	ENST00000007735.3	-	6	960	c.916C>T	c.(916-918)Cgc>Tgc	p.R306C		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	306	Coil 2.|Rod.					extracellular space (GO:0005615)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				GAGCTGTAGCGGGCCTCGCTC	0.587																																																0								G	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	57.0	56.0	56.0		916	4.6	1.0	17	dbSNP_134	56	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRT33A	NM_004138.2	180	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	probably-damaging	306/405	39502881	3,13003	2203	4300	6503	SO:0001583	missense	3883			Y16788	CCDS11388.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000006059	ENSG00000006059		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6450	protein-coding gene	gene with protein product	"""hard keratin type I 3I"""	602761	"""keratin, hair, acidic, 3A"""	KRTHA3A		7565656, 16831889	Standard	NM_004138		Approved	Ha-3I, Krt1-3	uc002hwk.2	O76009	OTTHUMG00000133432	ENST00000007735.3:c.916C>T	17.37:g.39502881G>A	ENSP00000007735:p.Arg306Cys		B2RA87|Q6NTB9|Q6ZZB9	Missense_Mutation	SNP	ENST00000007735.3	37	CCDS11388.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714147	0.89112	4.54E-4	1.16E-4	ENSG00000006059	ENST00000007735	D	0.90563	-2.69	4.55	4.55	0.56014	Filament (1);	0.000000	0.64402	D	0.000003	D	0.96103	0.8730	M	0.91354	3.2	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	D	0.97001	0.9729	10	0.87932	D	0	.	16.8343	0.85953	0.0:0.0:1.0:0.0	.	306	O76009	KT33A_HUMAN	C	306	ENSP00000007735:R306C	ENSP00000007735:R306C	R	-	1	0	KRT33A	36756407	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.375000	0.66173	2.501000	0.84356	0.655000	0.94253	CGC		0.587	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257295.1	NM_004138		6	89	6	89
DCC	1630	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	18	51025871	51025871	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr18:51025871T>C	ENST00000442544.2	+	27	4718	c.4102T>C	c.(4102-4104)Tct>Cct	p.S1368P	RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Missense_Mutation_p.S1001P	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1368					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ACCACTTTTGTCTCAGCCAGG	0.443																																																0													131.0	118.0	122.0					18																	51025871		2203	4300	6503	SO:0001583	missense	1630			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.4102T>C	18.37:g.51025871T>C	ENSP00000389140:p.Ser1368Pro			Missense_Mutation	SNP	ENST00000442544.2	37	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	T	13.03	2.114284	0.37339	.	.	ENSG00000187323	ENST00000442544	T	0.43688	0.94	6.06	6.06	0.98353	Neogenin, C-terminal (1);	0.077035	0.53938	D	0.000053	T	0.26340	0.0643	N	0.10733	0.035	0.53005	D	0.999965	B	0.14012	0.009	B	0.20384	0.029	T	0.09596	-1.0667	10	0.25106	T	0.35	-10.1546	15.6085	0.76696	0.0:0.0:0.0:1.0	.	1368	P43146	DCC_HUMAN	P	1368	ENSP00000389140:S1368P	ENSP00000389140:S1368P	S	+	1	0	DCC	49279869	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.349000	0.52217	2.327000	0.79052	0.533000	0.62120	TCT		0.443	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		85	124	85	124
PTPN14	5784	hgsc.bcm.edu;broad.mit.edu	37	1	214625279	214625279	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr1:214625279C>G	ENST00000366956.5	-	3	407	c.213G>C	c.(211-213)caG>caC	p.Q71H	PTPN14_ENST00000543945.1_Missense_Mutation_p.Q71H	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	71	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		ATCGTGCTTGCTGGCTCTTGC	0.458																																					Colon(92;557 1424 24372 34121 40073)											0													100.0	98.0	99.0					1																	214625279		2203	4300	6503	SO:0001583	missense	5784			X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.213G>C	1.37:g.214625279C>G	ENSP00000355923:p.Gln71His		Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820529	0.71028	.	.	ENSG00000152104	ENST00000366956;ENST00000543945	T;T	0.76448	-1.02;-1.02	5.55	4.64	0.57946	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.124291	0.56097	D	0.000031	T	0.76212	0.3956	N	0.20574	0.59	0.53688	D	0.999979	D	0.60575	0.988	P	0.62298	0.9	T	0.78091	-0.2339	10	0.66056	D	0.02	.	9.7817	0.40651	0.0:0.7861:0.1403:0.0735	.	71	Q15678	PTN14_HUMAN	H	71	ENSP00000355923:Q71H;ENSP00000443330:Q71H	ENSP00000355923:Q71H	Q	-	3	2	PTPN14	212691902	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.986000	0.49370	1.348000	0.45733	0.555000	0.69702	CAG		0.458	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		9	134	9	134
KIF16B	55614	hgsc.bcm.edu;broad.mit.edu	37	20	16360692	16360692	+	Missense_Mutation	SNP	C	C	T	rs372163476		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr20:16360692C>T	ENST00000354981.2	-	19	2112	c.1955G>A	c.(1954-1956)cGc>cAc	p.R652H	KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Missense_Mutation_p.R652H|KIF16B_ENST00000408042.1_Missense_Mutation_p.R652H	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	652	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CTCCTGCTTGCGAATCTGGAG	0.522													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16685	0.0		0.0	False		,,,				2504	0.0															0								C	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	129.0	116.0	121.0		1955,1955,1955	5.3	1.0	20		121	0,8600		0,0,4300	no	missense,missense,missense	KIF16B	NM_001199865.1,NM_001199866.1,NM_024704.4	29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	652/1267,652/1393,652/1318	16360692	1,13005	2203	4300	6503	SO:0001583	missense	55614			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.1955G>A	20.37:g.16360692C>T	ENSP00000347076:p.Arg652His		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	CCDS13122.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.87|17.87	3.494737|3.494737	0.64186|0.64186	2.27E-4|2.27E-4	0.0|0.0	ENSG00000089177|ENSG00000089177	ENST00000450176|ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	.|T;T;T	.|0.18174	.|2.23;2.23;2.23	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	.|0.063176	.|0.64402	.|D	.|0.000004	T|T	0.41558|0.41558	0.1164|0.1164	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;0.999	.|D;D;D;P	.|0.68621	.|0.949;0.959;0.949;0.891	T|T	0.09422|0.09422	-1.0675|-1.0675	5|10	.|0.45353	.|T	.|0.12	.|.	19.2754|19.2754	0.94030|0.94030	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|652;652;652;652	.|Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.|.;.;.;KI16B_HUMAN	T|H	87|652	.|ENSP00000347076:R652H;ENSP00000347995:R652H;ENSP00000384164:R652H	.|ENSP00000347076:R652H	A|R	-|-	1|2	0|0	KIF16B|KIF16B	16308692|16308692	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.514000|0.514000	0.34195|0.34195	3.214000|3.214000	0.51161|0.51161	2.630000|2.630000	0.89119|0.89119	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.522	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		12	199	12	199
PPP1R16B	26051	hgsc.bcm.edu;broad.mit.edu	37	20	37547124	37547124	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr20:37547124G>A	ENST00000299824.1	+	11	1708	c.1519G>A	c.(1519-1521)Gcc>Acc	p.A507T	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.A465T	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	507					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CAGCAGCATGGCCAGGACGGG	0.612																																																0													64.0	54.0	58.0					20																	37547124		2203	4300	6503	SO:0001583	missense	26051			AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.1519G>A	20.37:g.37547124G>A	ENSP00000299824:p.Ala507Thr		A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	ENST00000299824.1	37	CCDS13309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.34|13.34	2.208923|2.208923	0.39003|0.39003	.|.	.|.	ENSG00000101445|ENSG00000101445	ENST00000299824;ENST00000373331|ENST00000438192	T;T|.	0.71103|.	-0.35;-0.54|.	5.35|5.35	-1.5|-1.5	0.08691|0.08691	.|.	0.737333|.	0.13754|.	N|.	0.365064|.	T|.	0.22936|.	0.0554|.	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.001;0.001|.	T|.	0.28554|.	-1.0040|.	10|.	0.35671|.	T|.	0.21|.	.|.	4.2176|4.2176	0.10542|0.10542	0.2739:0.0:0.4803:0.2458|0.2739:0.0:0.4803:0.2458	.|.	465;507|.	E9PFS8;Q96T49|.	.;PP16B_HUMAN|.	T|X	507;465|407	ENSP00000299824:A507T;ENSP00000362428:A465T|.	ENSP00000299824:A507T|.	A|W	+|+	1|3	0|0	PPP1R16B|PPP1R16B	36980538|36980538	0.123000|0.123000	0.22298|0.22298	0.912000|0.912000	0.35992|0.35992	0.995000|0.995000	0.86356|0.86356	0.375000|0.375000	0.20518|0.20518	-0.219000|-0.219000	0.10003|0.10003	-0.136000|-0.136000	0.14681|0.14681	GCC|TGG		0.612	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		5	72	5	72
DSCAM	1826	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	21	41496241	41496241	+	Missense_Mutation	SNP	C	C	T	rs201680585		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr21:41496241C>T	ENST00000400454.1	-	20	4054	c.3577G>A	c.(3577-3579)Gcg>Acg	p.A1193T		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1193	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTCACACCCGCGGGAGGACCT	0.597																																					Melanoma(134;970 1778 1785 21664 32388)											0								C	THR/ALA	1,3999		0,1,1999	72.0	81.0	78.0		3577	5.2	0.2	21		78	3,8299		0,3,4148	yes	missense	DSCAM	NM_001389.3	58	0,4,6147	TT,TC,CC		0.0361,0.025,0.0325	possibly-damaging	1193/2013	41496241	4,12298	2000	4151	6151	SO:0001583	missense	1826			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.3577G>A	21.37:g.41496241C>T	ENSP00000383303:p.Ala1193Thr		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349760	0.61183	2.5E-4	3.61E-4	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.55234	0.53;0.53	5.2	5.2	0.72013	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.056768	0.64402	D	0.000001	T	0.54759	0.1878	L	0.37697	1.125	0.58432	D	0.999993	D	0.61697	0.99	P	0.50825	0.651	T	0.53968	-0.8363	10	0.39692	T	0.17	.	18.7183	0.91684	0.0:1.0:0.0:0.0	.	1193	O60469	DSCAM_HUMAN	T	1193;945	ENSP00000383303:A1193T;ENSP00000385342:A945T	ENSP00000383303:A1193T	A	-	1	0	DSCAM	40418111	1.000000	0.71417	0.222000	0.23844	0.143000	0.21401	7.636000	0.83301	2.392000	0.81423	0.563000	0.77884	GCG		0.597	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		66	105	66	105
TMPRSS2	7113	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	21	42845269	42845269	+	Silent	SNP	G	G	A	rs562033822		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr21:42845269G>A	ENST00000332149.5	-	9	1016	c.882C>T	c.(880-882)gcC>gcT	p.A294A	TMPRSS2_ENST00000398585.3_Silent_p.A331A|TMPRSS2_ENST00000458356.1_Silent_p.A294A	NM_005656.3	NP_005647.3	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	294	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				positive regulation of viral entry into host cell (GO:0046598)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				CGCAGTGGGCGGCTGTCACGA	0.692			T	"""ERG, ETV1, ETV4, ETV5"""	prostate								G|||	1	0.000199681	0.0	0.0	5008	,	,		14299	0.001		0.0	False		,,,				2504	0.0						Dom	yes		21	21q22.3	7113	"""transmembrane protease, serine 2"""		E	0																																										SO:0001819	synonymous_variant	7113			U75329	CCDS33564.1, CCDS54486.1	21q22.3	2010-04-13			ENSG00000184012	ENSG00000184012		"""Serine peptidases / Transmembrane"""	11876	protein-coding gene	gene with protein product		602060				9325052	Standard	NM_005656		Approved	PRSS10	uc010gor.3	O15393	OTTHUMG00000086762	ENST00000332149.5:c.882C>T	21.37:g.42845269G>A			A8K6Z8|B2R8E5|B7Z459|D3DSJ2|F8WES1|Q6GTK7|Q9BXX1	Silent	SNP	ENST00000332149.5	37	CCDS33564.1																																																																																				0.692	TMPRSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195189.1			7	9	7	9
REL	5966	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	61149057	61149057	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr2:61149057C>T	ENST00000295025.8	+	11	1567	c.1247C>T	c.(1246-1248)gCc>gTc	p.A416V	REL_ENST00000394479.3_Missense_Mutation_p.A384V	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	416					cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			TCATCAGTGGCCCACCCCACC	0.502			A		Hodgkin Lymphoma																																		Dom	yes		2	2p13-p12	5966	v-rel reticuloendotheliosis viral oncogene homolog (avian)		L	0													101.0	95.0	97.0					2																	61149057		2203	4300	6503	SO:0001583	missense	5966			M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.1247C>T	2.37:g.61149057C>T	ENSP00000295025:p.Ala416Val		Q17RU2|Q2PNZ7|Q6LDY0	Missense_Mutation	SNP	ENST00000295025.8	37	CCDS1864.1	.	.	.	.	.	.	.	.	.	.	C	6.447	0.450642	0.12223	.	.	ENSG00000162924	ENST00000295025;ENST00000394479	T;T	0.43294	0.95;0.95	5.01	5.01	0.66863	.	0.784404	0.11498	N	0.558006	T	0.28896	0.0717	N	0.24115	0.695	0.09310	N	1	B;B	0.20887	0.049;0.006	B;B	0.22386	0.039;0.014	T	0.12553	-1.0543	10	0.18710	T	0.47	-47.3276	9.883	0.41245	0.0:0.9053:0.0:0.0947	.	384;416	Q17RU2;Q04864	.;REL_HUMAN	V	416;384	ENSP00000295025:A416V;ENSP00000377989:A384V	ENSP00000295025:A416V	A	+	2	0	REL	61002561	0.000000	0.05858	0.006000	0.13384	0.030000	0.12068	0.598000	0.24074	2.479000	0.83701	0.585000	0.79938	GCC		0.502	REL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251576.3	NM_002908		10	84	10	84
DYNC1I2	1781	hgsc.bcm.edu;broad.mit.edu	37	2	172586272	172586272	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr2:172586272T>C	ENST00000397119.3	+	15	1612	c.1445T>C	c.(1444-1446)aTc>aCc	p.I482T	DYNC1I2_ENST00000358002.6_Missense_Mutation_p.I474T|DYNC1I2_ENST00000410079.3_Missense_Mutation_p.I474T|DYNC1I2_ENST00000534253.2_Missense_Mutation_p.I482T|DYNC1I2_ENST00000409197.1_Missense_Mutation_p.I456T|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.I456T|DYNC1I2_ENST00000409317.1_Missense_Mutation_p.I476T|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.I482T|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.I476T|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.I456T|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.I482T	NM_001378.1	NP_001369.1	Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	482					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|microtubule (GO:0005874)|vesicle (GO:0031982)	microtubule motor activity (GO:0003777)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			ATCACTGGCATCCATTGTCAT	0.398																																																0													116.0	113.0	114.0					2																	172586272		1910	4127	6037	SO:0001583	missense	1781			AK055491	CCDS46450.1, CCDS63054.1, CCDS63056.1, CCDS63057.1	2q31.1	2013-01-10	2005-11-24	2005-11-24	ENSG00000077380	ENSG00000077380		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2964	protein-coding gene	gene with protein product		603331	"""dynein, cytoplasmic, intermediate polypeptide 2"""	DNCI2		10049579, 16260502	Standard	NM_001378		Approved		uc002uha.2	Q13409	OTTHUMG00000154061	ENST00000397119.3:c.1445T>C	2.37:g.172586272T>C	ENSP00000380308:p.Ile482Thr		B7ZA04|D3DPD4|D3DPD5|D3DPD6|Q32LY9|Q53S84|Q5BJF8|Q7Z4X1|Q96NG7|Q96S87|Q9BXZ5|Q9NT58	Missense_Mutation	SNP	ENST00000397119.3	37	CCDS46450.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.403338	0.83230	.	.	ENSG00000077380	ENST00000340296;ENST00000534253;ENST00000263811;ENST00000397119;ENST00000410079;ENST00000508530;ENST00000409197;ENST00000409317;ENST00000409773;ENST00000409453;ENST00000358002	T;T;T;T;T;T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12	5.93	5.93	0.95920	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.042149	0.85682	D	0.000000	T	0.78355	0.4270	M	0.82056	2.57	0.80722	D	1	P;P;P;P;P	0.51537	0.457;0.932;0.908;0.946;0.881	B;P;P;P;P	0.60609	0.363;0.833;0.826;0.877;0.833	T	0.79040	-0.1966	10	0.44086	T	0.13	-8.5776	16.3736	0.83374	0.0:0.0:0.0:1.0	.	205;474;456;456;482	B4DX93;B7ZA04;Q13409-6;Q13409-3;Q13409	.;.;.;.;DC1I2_HUMAN	T	456;482;476;482;474;456;456;476;482;482;474	ENSP00000339430:I456T;ENSP00000433791:I482T;ENSP00000263811:I476T;ENSP00000380308:I482T;ENSP00000386522:I474T;ENSP00000423339:I456T;ENSP00000386397:I456T;ENSP00000386591:I476T;ENSP00000386415:I482T;ENSP00000386886:I482T;ENSP00000350692:I474T	ENSP00000263811:I476T	I	+	2	0	DYNC1I2	172294518	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.013000	0.88655	2.273000	0.75805	0.482000	0.46254	ATC		0.398	DYNC1I2-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333683.2	NM_001378		10	141	10	141
NBEAL1	65065	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	204003429	204003429	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr2:204003429G>C	ENST00000449802.1	+	30	5052	c.4719G>C	c.(4717-4719)caG>caC	p.Q1573H		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1573										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTCAAATTCAGATCCAGTTGC	0.373																																																0													169.0	166.0	167.0					2																	204003429		1838	4077	5915	SO:0001583	missense	65065			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.4719G>C	2.37:g.204003429G>C	ENSP00000399903:p.Gln1573His		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221015	0.58560	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.54279	0.58	5.24	2.97	0.34412	.	0.883383	0.09917	N	0.738934	T	0.50667	0.1629	L	0.57536	1.79	0.32354	N	0.558063	P;P	0.49961	0.93;0.93	P;P	0.44732	0.459;0.459	T	0.59005	-0.7535	10	0.56958	D	0.05	.	6.9128	0.24344	0.4748:0.0:0.5252:0.0	.	1573;1562	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	H	1573	ENSP00000399903:Q1573H	ENSP00000344985:Q1573H	Q	+	3	2	NBEAL1	203711674	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.555000	0.36277	1.051000	0.40369	0.655000	0.94253	CAG		0.373	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			24	246	24	246
NDUFS1	4719	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	206991481	206991481	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr2:206991481C>G	ENST00000233190.6	-	17	2238	c.1972G>C	c.(1972-1974)Gat>Cat	p.D658H	NDUFS1_ENST00000457011.1_Missense_Mutation_p.D542H|NDUFS1_ENST00000440274.1_Missense_Mutation_p.D622H|NDUFS1_ENST00000449699.1_Missense_Mutation_p.D658H|NDUFS1_ENST00000432169.1_Missense_Mutation_p.D547H|NDUFS1_ENST00000423725.1_Missense_Mutation_p.D601H|NDUFS1_ENST00000455934.2_Missense_Mutation_p.D672H	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	658					apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCTTCAATATCATCATATCGA	0.393																																																0													155.0	154.0	154.0					2																	206991481		2203	4300	6503	SO:0001583	missense	4719				CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7707	protein-coding gene	gene with protein product	"""complex I 75kDa subunit"", ""NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"""	157655	"""NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"""			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.1972G>C	2.37:g.206991481C>G	ENSP00000233190:p.Asp658His		B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Missense_Mutation	SNP	ENST00000233190.6	37	CCDS2366.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.104414	0.37145	.	.	ENSG00000023228	ENST00000233190;ENST00000423725;ENST00000457011;ENST00000440274;ENST00000455934;ENST00000449699;ENST00000432169	D;D;D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96;-1.96;-1.96	5.8	4.9	0.64082	NADH-quinone oxidoreductase, chain G, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.83677	0.5306	M	0.69823	2.125	0.80722	D	1	B;B;B;B	0.12630	0.002;0.003;0.006;0.006	B;B;B;B	0.21151	0.016;0.03;0.033;0.02	T	0.78375	-0.2228	10	0.13108	T	0.6	-13.5009	16.9862	0.86340	0.0:0.8731:0.1269:0.0	.	547;622;672;658	B4DPG1;E7ENF3;B4DJA0;P28331	.;.;.;NDUS1_HUMAN	H	658;601;542;622;672;658;547	ENSP00000233190:D658H;ENSP00000397760:D601H;ENSP00000400976:D542H;ENSP00000409766:D622H;ENSP00000392709:D672H;ENSP00000399912:D658H;ENSP00000409689:D547H	ENSP00000233190:D658H	D	-	1	0	NDUFS1	206699726	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.780000	0.55386	2.751000	0.94390	0.650000	0.86243	GAT		0.393	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4	NM_005006		18	181	18	181
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	679	Substitution - Missense(678)|Complex - compound substitution(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)											81.0	74.0	76.0					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			53	76	53	76
VIL1	7429	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	219299321	219299321	+	Missense_Mutation	SNP	G	G	A	rs372157130		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr2:219299321G>A	ENST00000248444.5	+	14	1661	c.1573G>A	c.(1573-1575)Gcc>Acc	p.A525T	VIL1_ENST00000392114.2_Missense_Mutation_p.A214T	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	525	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGAACTGGCGCCAACAACAC	0.572																																																0								G	THR/ALA	0,4406		0,0,2203	97.0	97.0	97.0		1573	-0.9	0.0	2		97	1,8599	1.2+/-3.3	0,1,4299	no	missense	VIL1	NM_007127.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	525/828	219299321	1,13005	2203	4300	6503	SO:0001583	missense	7429			X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.1573G>A	2.37:g.219299321G>A	ENSP00000248444:p.Ala525Thr		B2R9A7|Q53S11|Q96AC8	Missense_Mutation	SNP	ENST00000248444.5	37	CCDS2417.1	.	.	.	.	.	.	.	.	.	.	G	8.337	0.827757	0.16749	0.0	1.16E-4	ENSG00000127831	ENST00000248444;ENST00000392114;ENST00000419986	T;T;T	0.21932	1.98;1.98;1.98	4.32	-0.924	0.10462	.	0.552241	0.16675	N	0.204208	T	0.14056	0.0340	L	0.42245	1.32	0.41404	D	0.987699	B	0.19935	0.04	B	0.12156	0.007	T	0.08472	-1.0720	10	0.35671	T	0.21	-1.1485	5.3805	0.16189	0.2965:0.0:0.5747:0.1288	.	525	P09327	VILI_HUMAN	T	525;214;94	ENSP00000248444:A525T;ENSP00000375962:A214T;ENSP00000394030:A94T	ENSP00000248444:A525T	A	+	1	0	VIL1	219007565	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	0.322000	0.19576	-0.438000	0.07232	-0.215000	0.12644	GCC		0.572	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		68	81	68	81
MAB21L2	10586	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	151505024	151505024	+	Missense_Mutation	SNP	G	G	C	rs368334008		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr4:151505024G>C	ENST00000317605.4	+	1	1948	c.843G>C	c.(841-843)gaG>gaC	p.E281D	LRBA_ENST00000507224.1_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000535741.1_Intron|RP11-1336O20.2_ENST00000507934.1_RNA|LRBA_ENST00000503716.1_5'Flank|LRBA_ENST00000357115.3_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	281					camera-type eye development (GO:0043010)|embryonic body morphogenesis (GO:0010172)|eye development (GO:0001654)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		TGCTGTACGAGTGCGAGAAAC	0.627																																																0													91.0	82.0	85.0					4																	151505024		2203	4300	6503	SO:0001583	missense	10586			AF155219	CCDS3774.1	4q31.3	2013-10-22	2001-11-28		ENSG00000181541	ENSG00000181541			6758	protein-coding gene	gene with protein product		604357	"""mab-21 (C. elegans)-like 2"""				Standard	NM_006439		Approved		uc003ilw.3	Q9Y586	OTTHUMG00000161442	ENST00000317605.4:c.843G>C	4.37:g.151505024G>C	ENSP00000324701:p.Glu281Asp		B3KP37|Q9HBA7	Missense_Mutation	SNP	ENST00000317605.4	37	CCDS3774.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.150864	0.57151	.	.	ENSG00000181541	ENST00000317605	T	0.09817	2.94	5.14	3.4	0.38934	Ricin B lectin (1);	0.000000	0.85682	D	0.000000	T	0.32133	0.0819	M	0.85099	2.735	0.54753	D	0.999983	D	0.89917	1.0	D	0.91635	0.999	T	0.21008	-1.0258	10	0.17369	T	0.5	-21.8938	11.9474	0.52936	0.1437:0.0:0.8563:0.0	.	281	Q9Y586	MB212_HUMAN	D	281	ENSP00000324701:E281D	ENSP00000324701:E281D	E	+	3	2	MAB21L2	151724474	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.882000	0.48546	0.657000	0.30906	-0.379000	0.06801	GAG		0.627	MAB21L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364937.1	NM_006439		8	73	8	73
CTSO	1519	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	156847189	156847189	+	Nonstop_Mutation	SNP	C	C	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr4:156847189C>G	ENST00000433477.3	-	8	1034	c.965G>C	c.(964-966)tGa>tCa	p.*322S		NM_001334.2	NP_001325.1	P43235	CATK_HUMAN	cathepsin O	0					bone resorption (GO:0045453)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|intramembranous ossification (GO:0001957)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|proteoglycan binding (GO:0043394)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		CCCAACATGTCACACAAATAT	0.308																																					Pancreas(148;2303 2598 8989 35298)											0													93.0	88.0	90.0					4																	156847189		2203	4300	6503	SO:0001578	stop_lost	1519			X77383	CCDS3794.1	4q32.1	2012-10-03			ENSG00000256043	ENSG00000256043		"""Cathepsins"""	2542	protein-coding gene	gene with protein product		600550		CTSO1		9790772	Standard	NM_001334		Approved		uc003ipg.3	P43234	OTTHUMG00000161942	ENST00000433477.3:c.965G>C	4.37:g.156847189C>G			Q6FHS6	Nonstop_Mutation	SNP	ENST00000433477.3	37	CCDS3794.1	.	.	.	.	.	.	.	.	.	.	C	4.465	0.086207	0.08583	.	.	ENSG00000256043	ENST00000433477	.	.	.	5.68	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.102	0.48179	0.0:0.8579:0.0:0.1421	.	.	.	.	S	322	.	.	X	-	2	2	CTSO	157066639	1.000000	0.71417	0.992000	0.48379	0.034000	0.12701	2.961000	0.49168	1.541000	0.49316	0.655000	0.94253	TGA		0.308	CTSO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366469.1	NM_001334		9	29	9	29
DNAH5	1767	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	13769245	13769245	+	Splice_Site	SNP	C	C	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr5:13769245C>G	ENST00000265104.4	-	58	9825	c.9721G>C	c.(9721-9723)Gtc>Ctc	p.V3241L	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3241	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTTTTAAGACCTAATTCAAT	0.413									Kartagener syndrome																																							0													184.0	185.0	185.0					5																	13769245		2203	4300	6503	SO:0001630	splice_region_variant	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9721-1G>C	5.37:g.13769245C>G			Q92860|Q96L74|Q9H5S7|Q9HCG9	Splice_Site	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057168	0.76074	.	.	ENSG00000039139	ENST00000265104	T	0.66099	-0.19	5.76	5.76	0.90799	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	T	0.57051	0.2027	L	0.41356	1.27	0.80722	D	1	P	0.36465	0.554	B	0.37508	0.252	T	0.50381	-0.8835	10	0.18276	T	0.48	.	20.3242	0.98691	0.0:1.0:0.0:0.0	.	3241	Q8TE73	DYH5_HUMAN	L	3241	ENSP00000265104:V3241L	ENSP00000265104:V3241L	V	-	1	0	DNAH5	13822245	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.639000	0.83342	2.882000	0.98803	0.655000	0.94253	GTC		0.413	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	Missense_Mutation	68	235	68	235
KIAA0825	285600	hgsc.bcm.edu;broad.mit.edu	37	5	93856210	93856210	+	Missense_Mutation	SNP	T	T	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr5:93856210T>G	ENST00000329378.7	-	5	962	c.713A>C	c.(712-714)gAt>gCt	p.D238A	KIAA0825_ENST00000312498.7_Missense_Mutation_p.D238A|KIAA0825_ENST00000427991.2_Missense_Mutation_p.D238A|KIAA0825_ENST00000513200.3_Missense_Mutation_p.D238A	NM_173665.2	NP_775936.1	Q8IV33	K0825_HUMAN	KIAA0825	238										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						AGCTATTACATCTAAATTTGA	0.308																																																0													70.0	74.0	73.0					5																	93856210		2202	4298	6500	SO:0001583	missense	285600			BX648338	CCDS4070.1	5q15	2011-02-23	2011-02-23	2011-02-23	ENSG00000185261	ENSG00000185261			28532	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 36"""	C5orf36		12477932	Standard	NM_173665		Approved	DKFZp686F0372, MGC34713	uc011cuk.2	Q8IV33	OTTHUMG00000131331	ENST00000329378.7:c.713A>C	5.37:g.93856210T>G	ENSP00000331385:p.Asp238Ala		O94914|Q6ZNN2	Missense_Mutation	SNP	ENST00000329378.7	37	CCDS4070.1	.	.	.	.	.	.	.	.	.	.	T	17.69	3.452679	0.63290	.	.	ENSG00000185261	ENST00000513200;ENST00000427991;ENST00000312498;ENST00000329378	T;T;D;D	0.85484	0.48;0.48;-1.99;-1.99	5.51	5.51	0.81932	.	0.348826	0.35349	N	0.003278	D	0.89305	0.6677	M	0.61703	1.905	0.38343	D	0.944118	D;D	0.63046	0.992;0.971	P;P	0.56865	0.808;0.651	D	0.91387	0.5132	10	0.62326	D	0.03	.	15.611	0.76716	0.0:0.0:0.0:1.0	.	238;238	Q8IV33;Q8IV33-2	K0825_HUMAN;.	A	238	ENSP00000424618:D238A;ENSP00000400288:D238A;ENSP00000312205:D238A;ENSP00000331385:D238A	ENSP00000312205:D238A	D	-	2	0	KIAA0825	93881966	1.000000	0.71417	0.924000	0.36721	0.680000	0.39746	4.586000	0.60984	2.091000	0.63221	0.477000	0.44152	GAT		0.308	KIAA0825-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371180.2	NM_173665		6	80	6	80
LRRC16A	55604	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	25606448	25606448	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr6:25606448G>C	ENST00000329474.6	+	35	4162	c.3794G>C	c.(3793-3795)aGt>aCt	p.S1265T		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1265					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CCCAAACCCAGTCTGGCAGCA	0.592																																																0													42.0	49.0	47.0					6																	25606448		1928	4143	6071	SO:0001583	missense	55604			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.3794G>C	6.37:g.25606448G>C	ENSP00000331983:p.Ser1265Thr		B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	G	7.111	0.576056	0.13623	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.16457	2.34	5.85	-4.9	0.03094	.	0.822297	0.11845	N	0.523953	T	0.05547	0.0146	L	0.44542	1.39	0.54753	D	0.999984	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.40590	-0.9555	10	0.21014	T	0.42	-3.8555	16.2597	0.82535	0.1093:0.596:0.2946:0.0	.	1265;1259;1220	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	T	1265;1220	ENSP00000331983:S1265T	ENSP00000331983:S1265T	S	+	2	0	LRRC16A	25714427	0.987000	0.35691	0.594000	0.28785	0.683000	0.39861	0.116000	0.15561	-0.766000	0.04639	-0.176000	0.13171	AGT		0.592	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		8	23	8	23
CLIC1	1192	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	31698750	31698750	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr6:31698750T>C	ENST00000375780.2	-	7	1167	c.595A>G	c.(595-597)Atc>Gtc	p.I199V	CLIC1_ENST00000395892.1_Missense_Mutation_p.I199V|CLIC1_ENST00000375779.2_Missense_Mutation_p.I199V|CLIC1_ENST00000375784.3_Missense_Mutation_p.I199V|DDAH2_ENST00000375789.2_5'Flank|DDAH2_ENST00000375787.2_5'Flank|DDAH2_ENST00000375792.3_5'Flank|DDAH2_ENST00000480913.1_5'Flank			O00299	CLIC1_HUMAN	chloride intracellular channel 1	199	GST C-terminal.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|platelet aggregation (GO:0070527)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of mitochondrial membrane potential (GO:0051881)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|brush border (GO:0005903)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						GCCTCGGGGATGGTGAATCCC	0.582																																																0													58.0	44.0	49.0					6																	31698750		1511	2709	4220	SO:0001583	missense	1192			U93205	CCDS4719.1	6p21.3	2012-09-26			ENSG00000213719	ENSG00000213719		"""Ion channels / Chloride channels : Intracellular"""	2062	protein-coding gene	gene with protein product		602872				9139710	Standard	NM_001288		Approved	NCC27, p64CLCP	uc003nwr.3	O00299	OTTHUMG00000031103	ENST00000375780.2:c.595A>G	6.37:g.31698750T>C	ENSP00000364935:p.Ile199Val		Q15089|Q502X1	Missense_Mutation	SNP	ENST00000375780.2	37	CCDS4719.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.469627	0.84533	.	.	ENSG00000213719	ENST00000375784;ENST00000375779;ENST00000375780;ENST00000395892	D;D;D;D	0.94576	-3.46;-3.46;-3.46;-3.46	4.77	4.77	0.60923	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.000000	0.64402	U	0.000002	D	0.92309	0.7560	L	0.51914	1.62	0.80722	D	1	P	0.48911	0.917	P	0.51974	0.686	D	0.91579	0.5277	10	0.37606	T	0.19	-16.1976	12.28	0.54759	0.0:0.0:0.0:1.0	.	199	O00299	CLIC1_HUMAN	V	199	ENSP00000364940:I199V;ENSP00000364934:I199V;ENSP00000364935:I199V;ENSP00000379229:I199V	ENSP00000364934:I199V	I	-	1	0	CLIC1	31806729	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	3.761000	0.55242	2.003000	0.58678	0.533000	0.62120	ATC		0.582	CLIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076167.3	NM_001288		20	38	20	38
BTNL2	56244	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	32370727	32370727	+	Missense_Mutation	SNP	C	C	T	rs79379254	byFrequency	TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr6:32370727C>T	ENST00000374993.1	-	3	693	c.694G>A	c.(694-696)Gtc>Atc	p.V232I	BTNL2_ENST00000429232.2_Intron|BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000374995.3_Intron|BTNL2_ENST00000454136.3_Missense_Mutation_p.V232I|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000414363.1_Intron	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	232	Ig-like V-type 2.					integral component of membrane (GO:0016021)				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						AGGCTGATGACCGACCCCTTC	0.582																																																0													57.0	49.0	52.0					6																	32370727		1510	2709	4219	SO:0001583	missense	56244			AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.694G>A	6.37:g.32370727C>T	ENSP00000364132:p.Val232Ile		A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Missense_Mutation	SNP	ENST00000374993.1	37		.	.	.	.	.	.	.	.	.	.	C	9.133	1.011963	0.19277	.	.	ENSG00000204290	ENST00000468270;ENST00000374993	T	0.03607	3.87	4.71	-2.87	0.05700	Immunoglobulin-like (1);	1.938530	0.02348	N	0.075646	T	0.00815	0.0027	N	0.24115	0.695	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.48387	-0.9040	10	0.27082	T	0.32	.	6.0989	0.20035	0.0:0.332:0.1399:0.5281	.	232	Q9UIR0	BTNL2_HUMAN	I	232	ENSP00000364132:V232I	ENSP00000364132:V232I	V	-	1	0	BTNL2	32478705	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.529000	0.00945	-0.757000	0.04697	-0.945000	0.02674	GTC		0.582	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_019602		24	24	24	24
ABCB1	5243	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	87183089	87183089	+	Silent	SNP	T	T	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr7:87183089T>C	ENST00000265724.3	-	10	1404	c.987A>G	c.(985-987)ggA>ggG	p.G329G	ABCB1_ENST00000543898.1_Silent_p.G265G	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	329	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TGAGTACTTGTCCAATAGAAT	0.378																																																0													103.0	96.0	98.0					7																	87183089		2203	4300	6503	SO:0001819	synonymous_variant	5243			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.987A>G	7.37:g.87183089T>C			A8K294|B5AK60|Q12755|Q14812	Silent	SNP	ENST00000265724.3	37	CCDS5608.1																																																																																				0.378	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		49	67	49	67
TAS2R4	50832	hgsc.bcm.edu;broad.mit.edu	37	7	141478489	141478489	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr7:141478489C>G	ENST00000247881.2	+	1	248	c.201C>G	c.(199-201)atC>atG	p.I67M	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	67					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|respiratory gaseous exchange (GO:0007585)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		TGAACACCATCTACTTCGTCT	0.443																																																0													250.0	226.0	234.0					7																	141478489		2203	4300	6503	SO:0001583	missense	50832			AF227131	CCDS5868.1	7q31.3-q32	2012-08-22			ENSG00000127364	ENSG00000127364		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14911	protein-coding gene	gene with protein product		604869				10761934, 10761935	Standard	NM_016944		Approved	T2R4	uc003vwq.1	Q9NYW5	OTTHUMG00000157634	ENST00000247881.2:c.201C>G	7.37:g.141478489C>G	ENSP00000247881:p.Ile67Met		Q645W5|Q75MV8	Missense_Mutation	SNP	ENST00000247881.2	37	CCDS5868.1	.	.	.	.	.	.	.	.	.	.	C	4.116	0.019698	0.08006	.	.	ENSG00000127364	ENST00000247881	T	0.00801	5.68	5.57	0.106	0.14540	.	1.737230	0.03035	N	0.152635	T	0.01695	0.0054	L	0.43152	1.355	0.09310	N	1	B	0.32365	0.367	B	0.40702	0.338	T	0.46331	-0.9199	10	0.48119	T	0.1	.	5.525	0.16953	0.0:0.3027:0.4503:0.247	.	67	Q9NYW5	TA2R4_HUMAN	M	67	ENSP00000247881:I67M	ENSP00000247881:I67M	I	+	3	3	TAS2R4	141124958	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.119000	0.03276	0.357000	0.24183	0.650000	0.86243	ATC		0.443	TAS2R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349285.1			20	258	20	258
PLAA	9373	hgsc.bcm.edu;broad.mit.edu	37	9	26905915	26905915	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr9:26905915C>T	ENST00000397292.3	-	14	2399	c.1982G>A	c.(1981-1983)aGg>aAg	p.R661K		NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	661	PUL. {ECO:0000255|PROSITE- ProRule:PRU00729}.				inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		GCAAAAAGTCCTGAGAGCAAG	0.458																																					Melanoma(175;2670 2735 14091 35526)											0													71.0	71.0	71.0					9																	26905915		2203	4300	6503	SO:0001583	missense	9373			AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"""WD repeat domain containing"""	9043	protein-coding gene	gene with protein product	"""DOA1 homolog (S. cerevisiae)"""	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.1982G>A	9.37:g.26905915C>T	ENSP00000380460:p.Arg661Lys		Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Missense_Mutation	SNP	ENST00000397292.3	37	CCDS35000.1	.	.	.	.	.	.	.	.	.	.	C	31	5.097201	0.94197	.	.	ENSG00000137055	ENST00000397292	T	0.49432	0.78	6.07	6.07	0.98685	PUL (2);	0.000000	0.85682	D	0.000000	T	0.65207	0.2669	M	0.72353	2.195	0.80722	D	1	D	0.55800	0.973	P	0.55508	0.777	T	0.62402	-0.6862	10	0.46703	T	0.11	-14.4978	20.6593	0.99626	0.0:1.0:0.0:0.0	.	661	Q9Y263	PLAP_HUMAN	K	661	ENSP00000380460:R661K	ENSP00000380460:R661K	R	-	2	0	PLAA	26895915	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.288000	0.78691	2.885000	0.99019	0.655000	0.94253	AGG		0.458	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	NM_001031689		6	64	6	64
AGPAT3	56894	broad.mit.edu;ucsc.edu	37	21	45379705	45379705	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr21:45379705G>A	ENST00000398063.2	+	2	635	c.143G>A	c.(142-144)cGc>cAc	p.R48H	AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398061.1_Missense_Mutation_p.R48H|AGPAT3_ENST00000398058.1_Missense_Mutation_p.R48H|AGPAT3_ENST00000291572.8_Missense_Mutation_p.R48H|AGPAT3_ENST00000327505.2_Missense_Mutation_p.R48H|AGPAT3_ENST00000546158.1_Missense_Mutation_p.R48H	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	48					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		CTCTACCGCCGCCTCAACTGC	0.667																																					Pancreas(60;623 1650 5574 52796)											0													41.0	31.0	35.0					21																	45379705		2203	4300	6503	SO:0001583	missense	56894			AF156774	CCDS13703.1	21q22.3	2013-02-05			ENSG00000160216	ENSG00000160216	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	326	protein-coding gene	gene with protein product		614794					Standard	XM_005261159		Approved	LPAAT-gamma	uc002zdw.3	Q9NRZ7	OTTHUMG00000086892	ENST00000398063.2:c.143G>A	21.37:g.45379705G>A	ENSP00000381140:p.Arg48His		D3DSL2|Q3ZCU2|Q6UWP6|Q6ZUC6|Q8N3Q7|Q9NRZ6	Missense_Mutation	SNP	ENST00000398063.2	37	CCDS13703.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.491112	0.64074	.	.	ENSG00000160216	ENST00000291572;ENST00000448287;ENST00000398061;ENST00000327505;ENST00000445582;ENST00000398063;ENST00000438598;ENST00000398058;ENST00000457068;ENST00000422850;ENST00000546158	T;T;T;T;T;T;T;T	0.47177	1.41;1.41;1.41;1.41;1.41;0.85;0.85;1.41	4.4	3.5	0.40072	.	0.479193	0.19678	N	0.108575	T	0.47229	0.1434	M	0.68593	2.085	0.43583	D	0.995922	B	0.27316	0.175	B	0.28139	0.086	T	0.55805	-0.8083	10	0.72032	D	0.01	-12.5677	12.5545	0.56246	0.0835:0.0:0.9165:0.0	.	48	Q9NRZ7	PLCC_HUMAN	H	48	ENSP00000291572:R48H;ENSP00000381138:R48H;ENSP00000332989:R48H;ENSP00000381140:R48H;ENSP00000381135:R48H;ENSP00000413906:R48H;ENSP00000414440:R48H;ENSP00000443510:R48H	ENSP00000291572:R48H	R	+	2	0	AGPAT3	44204133	1.000000	0.71417	0.918000	0.36340	0.954000	0.61252	3.588000	0.53964	2.003000	0.58678	0.454000	0.30748	CGC		0.667	AGPAT3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195722.1	NM_020132		5	34	5	34
PURG	29942	broad.mit.edu;ucsc.edu	37	8	30889490	30889490	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr8:30889490T>C	ENST00000475541.1	-	1	1741	c.809A>G	c.(808-810)gAc>gGc	p.D270G	PURG_ENST00000339382.2_Missense_Mutation_p.D270G|WRN_ENST00000298139.5_5'Flank	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	270						nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		CCTTTTATTGTCCACTCTGAA	0.438																																																0													72.0	67.0	68.0					8																	30889490		2203	4300	6503	SO:0001583	missense	29942			AF195513	CCDS34878.1, CCDS6081.1	8p11	2004-02-09			ENSG00000172733	ENSG00000172733			17930	protein-coding gene	gene with protein product						12034829	Standard	NM_013357		Approved	PURG-A, PURG-B	uc003xin.3	Q9UJV8	OTTHUMG00000157357	ENST00000475541.1:c.809A>G	8.37:g.30889490T>C	ENSP00000418721:p.Asp270Gly		Q8TE64	Missense_Mutation	SNP	ENST00000475541.1	37	CCDS6081.1	.	.	.	.	.	.	.	.	.	.	T	18.49	3.635646	0.67130	.	.	ENSG00000172733	ENST00000339382;ENST00000475541	T;T	0.35789	1.29;1.29	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.59142	0.2172	M	0.73372	2.23	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.83275	0.996;0.993	T	0.60919	-0.7167	10	0.48119	T	0.1	-15.004	14.8371	0.70192	0.0:0.0:0.0:1.0	.	270;270	Q9UJV8;Q9UJV8-2	PURG_HUMAN;.	G	270	ENSP00000345168:D270G;ENSP00000418721:D270G	ENSP00000345168:D270G	D	-	2	0	PURG	31009032	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	1.974000	0.57490	0.533000	0.62120	GAC		0.438	PURG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348565.1	NM_013357		58	59	58	59
ATRX	546	broad.mit.edu;hgsc.bcm.edu	37	X	76919037	76919038	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chrX:76919037_76919038insT	ENST00000373344.5	-	12	4167_4168	c.3953_3954insA	c.(3952-3954)aatfs	p.N1318fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.N1280fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1318	Interaction with DAXX.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AATTGACTTGATTTTTTGCTTC	0.351			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)																																								SO:0001589	frameshift_variant	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3954dupA	X.37:g.76919043_76919043dupT	ENSP00000362441:p.Asn1318fs		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS	ENST00000373344.5	37	CCDS14434.1																																																																																				0.351	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		21	3	21	3
