#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCF_CI95_high	i_CCF_CI95_low	i_CCF_CI_high	i_CCF_CI_low	i_CCF_hat	i_CCF_mean	i_CCF_median	i_CCF_mode	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_CancerGermlineMut	i_CGC_CancerMolecularGenetics	i_CGC_CancerSomaticMut	i_CGC_CancerSyndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_ChrBand	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_OtherGermlineMut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_TissueType	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_ExAC_AC	i_ExAC_AN	i_ExAC_LQ	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_IS_SCNA	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SCNA_NA	i_SCNA_NB	i_SCNA_q_hat	i_SCNA_tau	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_bcgsc	i_broad	i_build	i_cDNA_Change	i_ccds_id	i_clonal	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_GERP_NR	i_dbNSFP_GERP_RS	i_dbNSFP_GERP_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_dna_fraction_in_tumor	i_entrez_gene_id	i_external_id_capture	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_hgsc	i_igv_bad	i_localAssembly_detected	i_min_val_count_KRAS	i_min_val_count_localAssembly	i_min_val_count_rna	i_min_val_count_targeted	i_n_alt_count	i_n_alt_count_KRAS	i_n_alt_count_full	i_n_alt_count_localAssembly	i_n_ref_count	i_n_ref_count_KRAS	i_n_ref_count_full	i_n_ref_count_localAssembly	i_passExAC	i_ploidy	i_pon_loglike	i_pon_pass_loglike	i_purity	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_KRAS	i_t_alt_count_full	i_t_alt_count_localAssembly	i_t_ref_count_KRAS	i_t_ref_count_full	i_t_ref_count_localAssembly	i_ucsc	i_validation_judgement_KRAS	i_validation_judgement_localAssembly	i_validation_judgement_rna	i_validation_judgement_targeted	i_validation_normal_alt_count_rna	i_validation_normal_alt_count_targeted	i_validation_normal_ref_count_rna	i_validation_normal_ref_count_targeted	i_validation_power_KRAS	i_validation_power_localAssembly	i_validation_power_rna	i_validation_power_targeted	i_validation_tumor_alt_count_rna	i_validation_tumor_alt_count_targeted	i_validation_tumor_ref_count_rna	i_validation_tumor_ref_count_targeted	t_alt_count	t_ref_count
TP53	7157	broad.mit.edu	37	17	7577558	7577558	+	Frame_Shift_Del	DEL	G	G	-	rs397516437		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08			G	-	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr17:7577558delG	ENST00000269305.4	-	7	912	c.723delC	c.(721-723)tccfs	p.S241fs	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Del_p.S241fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.S241fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.S241fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.S241fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.S241fs	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	241	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		S -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228}.|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (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.C242fs*5(9)|p.0?(8)|p.?(5)|p.S241del(5)|p.S241F(5)|p.N239_C242delNSSC(3)|p.S241S(3)|p.N239_C242>S(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*20(1)|p.C242fs*23(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)	CGCCCATGCAGGAACTGTTAC	0.577		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)	ENST00000269305.4	0.830000	0.420000	7.300000e-01	5.100000e-01	0.610000	0.624867	0.610000	0.610000		111	yes	Rec	yes	Li-Fraumeni syndrome	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	17p13	7157	Mis, N, F	tumor protein p53				"""L, E, M, O"""	L, E, M, O		breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types	breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types		50	Deletion - In frame(13)|Deletion - Frameshift(13)|Whole gene deletion(8)|Unknown(5)|Substitution - Missense(5)|Substitution - coding silent(3)|Insertion - Frameshift(1)|Insertion - In frame(1)|Complex - deletion inframe(1)	p.C242fs*5(9)|p.0?(8)|p.?(5)|p.S241del(5)|p.S241F(5)|p.N239_C242delNSSC(3)|p.S241S(3)|p.N239_C242>S(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*20(1)|p.C242fs*23(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)	large_intestine(8)|biliary_tract(6)|breast(5)|upper_aerodigestive_tract(4)|stomach(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|central_nervous_system(2)|urinary_tract(2)|oesophagus(2)|skin(2)|eye(2)|pancreas(2)|liver(1)	24185						c.(721-723)tccfs	Other conserved DNA damage response genes	tumor protein p53	Acetylsalicylic acid(DB00945)						138.0	107.0	117.0					17																	7577558		2203	4300	6503	SO:0001589	frameshift_variant	7157	0	0		Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	g.chr17:7577558delG	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.723delC	chr17.hg19:g.7577558delG	ENSP00000269305:p.Ser241fs	1	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)				TP53_ENST00000445888.2_Frame_Shift_Del_p.S241fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Del_p.S241fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.S241fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.S241fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.S241fs	p.S241fs	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	0	1	1	1.766681	P04637	P53_HUMAN		7	912	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	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	Frame_Shift_Del	DEL	ENST00000269305.4	0	1	hg19	c.723delC	CCDS11118.1	0																																																																																								0.149425		TCGA-FB-AAPY-01A-11D-A40W-08	0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1		19	2	2	0		0	1	54		54	53	1	1.920000	-3.142702	1	0.260000	NM_000546			30	32		294	287	0		1	0	1	0	0	54	620		0.957408	8.549890e-01	1	0	56	36	603	30	294
PARD3	56288	broad.mit.edu	37	10	34663823	34663823	+	Silent	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr10:34663823G>A	ENST00000374789.3	-	11	1972	c.1647C>T	c.(1645-1647)gaC>gaT	p.D549D	PARD3_ENST00000374794.3_Silent_p.D505D|PARD3_ENST00000374768.1_5'Flank|PARD3_ENST00000545260.1_Silent_p.D505D|PARD3_ENST00000350537.4_Silent_p.D549D|PARD3_ENST00000374776.1_Silent_p.D549D|PARD3_ENST00000340077.5_Silent_p.D549D|PARD3_ENST00000545693.1_Silent_p.D549D|PARD3_ENST00000374788.3_Silent_p.D549D|PARD3_ENST00000374790.3_Silent_p.D505D|PARD3_ENST00000346874.4_Silent_p.D549D|PARD3_ENST00000544292.1_Silent_p.D279D|PARD3_ENST00000374773.1_Silent_p.D549D	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	549					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GGTGGAAGGCGTCTTCCTGGC	0.478																																						ENST00000374789.3	1.000000	0.980000	1	9.900000e-01	0.990000	0.998779	0.990000	1.000000																										0				63						c.(1645-1647)gaC>gaT		par-3 family cell polarity regulator							179.0	180.0	179.0					10																	34663823		2203	4300	6503	SO:0001819	synonymous_variant	56288	1	121410	39				g.chr10:34663823G>A	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.1647C>T	chr10.hg19:g.34663823G>A		0					PARD3_ENST00000374773.1_Silent_p.D549D|PARD3_ENST00000545693.1_Silent_p.D549D|PARD3_ENST00000545260.1_Silent_p.D505D|PARD3_ENST00000374794.3_Silent_p.D505D|PARD3_ENST00000374788.3_Silent_p.D549D|PARD3_ENST00000544292.1_Silent_p.D279D|PARD3_ENST00000374768.1_5'Flank|PARD3_ENST00000374776.1_Silent_p.D549D|PARD3_ENST00000346874.4_Silent_p.D549D|PARD3_ENST00000374790.3_Silent_p.D505D|PARD3_ENST00000350537.4_Silent_p.D549D|PARD3_ENST00000340077.5_Silent_p.D549D	p.D549D	NM_019619.3	NP_062565.2	1	2	3	2.039750	Q8TEW0	PARD3_HUMAN		11	1972	-		Breast(68;0.0707)	F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Silent	SNP	ENST00000374789.3	1	1	hg19	c.1647C>T	CCDS7178.1	1																																																																																								0.264779		TCGA-FB-AAPY-01A-11D-A40W-08	0.478	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	0	0	1		20	2	2	1		1	1	158		158	156	1	1.920000	-20.000000	1	0.260000	NM_019619			138	136		788	784	1		1	1		1	0	158	0		1.000000	9.421334e-01	0	8	0	21	0	138	788
CPXM2	119587	broad.mit.edu	37	10	125539748	125539748	+	Missense_Mutation	SNP	G	G	A	rs372846460		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr10:125539748G>A	ENST00000241305.3	-	7	1067	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W	RP11-391M7.3_ENST00000446888.1_RNA|CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	305					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		ATCTCGTTCCGGCGGTGATAA	0.448																																						ENST00000241305.3	1.000000	0.580000	8.900000e-01	6.700000e-01	0.760000	0.781340	0.760000	0.750000																										0				47						c.(913-915)Cgg>Tgg		carboxypeptidase X (M14 family), member 2		G	TRP/ARG	0,4406		0,0,2203	176.0	172.0	173.0		913	2.6	1.0	10		173	1,8599	1.2+/-3.3	0,1,4299	no	missense	CPXM2	NM_198148.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	305/757	125539748	1,13005	2203	4300	6503	SO:0001583	missense	119587	6	121412	41				g.chr10:125539748G>A	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.913C>T	chr10.hg19:g.125539748G>A	ENSP00000241305:p.Arg305Trp	0					CPXM2_ENST00000368854.3_5'UTR|RP11-391M7.3_ENST00000446888.1_RNA	p.R305W	NM_198148.2	NP_937791.2	1	2	3	2.059041	Q8N436	CPXM2_HUMAN		7	1067	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	1	1	hg19	c.913C>T	CCDS7637.1	0	.	.	.	.	.	.	.	.	.	.	G	14.50	2.555273	0.45487	0.0	1.16E-4	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	D	0.96459	-4.02	4.62	2.6	0.31112	4.62	2.6	0.31112	.	0.059335	0.64402	D	0.000003	D	0.95996	0.8696	L	0.44542	1.39	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	D	0.94907	0.8061	10	0.87932	D	0	-16.204	7.5893	0.28012	0.0955:0.0:0.684:0.2205	.	305	Q8N436	CPXM2_HUMAN	W	305;138;305	ENSP00000241305:R305W	ENSP00000241305:R305W	R	-	1	2	2	CPXM2	125529738	125529738	1.000000	0.71417	0.998000	0.56505	0.342000	0.28953	2.618000	0.46393	1.169000	0.42739	-0.136000	0.14681	CGG	0.268558		TCGA-FB-AAPY-01A-11D-A40W-08	0.448	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	1	0	1		2	2	2	0		0	0	115		115	112	1	1.920000	-3.221883	1	0.260000	NM_198148			59	59		547	545	0		1	0		0	0	115	0		1.000000	3.714629e-01	0	0	0	13	0	59	547
OR4D5	219875	broad.mit.edu	37	11	123810641	123810641	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr11:123810641C>A	ENST00000307033.2	+	1	392	c.318C>A	c.(316-318)ttC>ttA	p.F106L		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TCTTCCACTTCATTGGAGGCA	0.498																																						ENST00000307033.2	1.000000	0.900000	1	9.900000e-01	0.990000	0.994015	0.990000	1.000000																										0				41						c.(316-318)ttC>ttA		olfactory receptor, family 4, subfamily D, member 5							128.0	108.0	115.0					11																	123810641		2202	4299	6501	SO:0001583	missense	219875	0	0					g.chr11:123810641C>A	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.318C>A	chr11.hg19:g.123810641C>A	ENSP00000305970:p.Phe106Leu	0						p.F106L	NM_001001965.1	NP_001001965.1	1	2	3	2.039641	Q8NGN0	OR4D5_HUMAN		1	392	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	1	1	hg19	c.318C>A	CCDS31699.1	1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.580034	0.46006	.	.	ENSG00000171014	ENST00000307033	T	0.00408	7.54	5.5	4.58	0.56647	5.5	4.58	0.56647	GPCR, rhodopsin-like superfamily (1);	0.132917	0.34386	N	0.004004	T	0.00178	0.0005	N	0.04063	-0.285	0.32942	D	0.518614	B	0.17038	0.02	B	0.18871	0.023	T	0.33111	-0.9881	10	0.13470	T	0.59	-18.5794	8.7808	0.34789	0.0:0.8248:0.0:0.1752	.	106	Q8NGN0	OR4D5_HUMAN	L	106	ENSP00000305970:F106L	ENSP00000305970:F106L	F	+	3	2	2	OR4D5	123315851	123315851	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	0.448000	0.21726	2.575000	0.86900	0.655000	0.94253	TTC	0.264779		TCGA-FB-AAPY-01A-11D-A40W-08	0.498	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	1	0	1		2	2	2	0		0	0	80		80	80	1	1.920000	-20.000000	1	0.260000	NM_001001965			57	56		320	315	1		1			0	0	80	0		1.000000	0	0	0	0	0	0	57	320
OR8B12	219858	broad.mit.edu	37	11	124412927	124412927	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr11:124412927C>A	ENST00000306842.2	-	1	648	c.624G>T	c.(622-624)atG>atT	p.M208I		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		TGACAATGGGCATTCCAACGT	0.453																																						ENST00000306842.2	1.000000	0.730000	1	8.900000e-01	0.990000	0.963158	0.990000	1.000000																										0				31						c.(622-624)atG>atT		olfactory receptor, family 8, subfamily B, member 12							97.0	77.0	84.0					11																	124412927		2201	4299	6500	SO:0001583	missense	219858	0	0					g.chr11:124412927C>A		CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"""GPCR / Class A : Olfactory receptors"""	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.624G>T	chr11.hg19:g.124412927C>A	ENSP00000307159:p.Met208Ile	0						p.M208I	NM_001005195.1	NP_001005195.1	1	2	3	2.039641	Q8NGG6	OR8BC_HUMAN		1	648	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	B2RNF6|Q6IEW8|Q96RC7	Missense_Mutation	SNP	ENST00000306842.2	1	1	hg19	c.624G>T	CCDS31711.1	1	.	.	.	.	.	.	.	.	.	.	C	0.960	-0.703660	0.03255	.	.	ENSG00000170953	ENST00000306842	T	0.30981	1.51	3.89	-0.137	0.13469	3.89	-0.137	0.13469	GPCR, rhodopsin-like superfamily (1);	1.388370	0.04278	N	0.343265	T	0.09247	0.0228	N	0.00436	-1.5	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.17198	-1.0377	10	0.39692	T	0.17	.	4.7775	0.13187	0.0:0.4882:0.1521:0.3598	.	208	Q8NGG6	OR8BC_HUMAN	I	208	ENSP00000307159:M208I	ENSP00000307159:M208I	M	-	3	0	0	OR8B12	123918137	123918137	0.000000	0.05858	0.002000	0.10522	0.015000	0.08874	-2.035000	0.01423	-0.013000	0.14199	-0.145000	0.13849	ATG	0.264779		TCGA-FB-AAPY-01A-11D-A40W-08	0.453	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387061.1	1	0	1		2	2	2	0		0	0	36		36	36	1	1.920000	-20.000000	1	0.260000				24	24		147	147	1		1			0	0	36	0		1.000000	0	0	0	0	0	0	24	147
C11orf40	143501	broad.mit.edu	37	11	4594586	4594586	+	Missense_Mutation	SNP	A	A	T	rs143067877		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr11:4594586A>T	ENST00000307616.1	-	2	257	c.258T>A	c.(256-258)gaT>gaA	p.D86E		NM_144663.1	NP_653264.1	Q8WZ69	CK040_HUMAN	chromosome 11 open reading frame 40	86										large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGTGGCCGTTATCACCCATCA	0.473																																						ENST00000307616.1	1.000000	0.330000	6.200000e-01	4.100000e-01	0.500000	0.534024	0.500000	0.500000																										0				7						c.(256-258)gaT>gaA		chromosome 11 open reading frame 40							218.0	178.0	192.0					11																	4594586		2201	4298	6499	SO:0001583	missense	143501	2	121412	37				g.chr11:4594586A>T		CCDS31354.1	11p15.5	2005-10-03			ENSG00000171987	ENSG00000171987			23986	protein-coding gene	gene with protein product							Standard	NM_144663		Approved	NOV1	uc010qyg.2	Q8WZ69	OTTHUMG00000165345	ENST00000307616.1:c.258T>A	chr11.hg19:g.4594586A>T	ENSP00000302918:p.Asp86Glu	0						p.D86E	NM_144663.1	NP_653264.1	1	2	3	2.049718	Q8WZ69	CK040_HUMAN		2	257	-		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Missense_Mutation	SNP	ENST00000307616.1	1	1	hg19	c.258T>A	CCDS31354.1	0	.	.	.	.	.	.	.	.	.	.	A	8.861	0.946988	0.18356	.	.	ENSG00000171987	ENST00000307616	T	0.54866	0.55	1.45	-1.1	0.09872	1.45	-1.1	0.09872	.	.	.	.	.	T	0.26304	0.0642	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.16808	-1.0390	9	0.87932	D	0	.	2.2405	0.04018	0.4644:0.3189:0.2167:0.0	.	86	Q8WZ69	CK040_HUMAN	E	86	ENSP00000302918:D86E	ENSP00000302918:D86E	D	-	3	2	2	C11orf40	4551162	4551162	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.039000	0.03550	-0.336000	0.08438	0.338000	0.21704	GAT	0.266673		TCGA-FB-AAPY-01A-11D-A40W-08	0.473	C11orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383529.1	1	0	1		2	2	2	0		0	0	80		80	79	1	1.920000	-20.000000	1	0.260000	NM_144663			26	26		383	378	0		1			0	0	80	0		1.000000	0	0	0	0	0	0	26	383
AGBL2	79841	broad.mit.edu	37	11	47681762	47681762	+	Missense_Mutation	SNP	G	G	A	rs138759912	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr11:47681762G>A	ENST00000525123.1	-	19	2957	c.2672C>T	c.(2671-2673)gCg>gTg	p.A891V	AGBL2_ENST00000298861.4_Missense_Mutation_p.A891V|AGBL2_ENST00000357610.3_Missense_Mutation_p.A893V	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	891						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						TGGGTATGCCGCCATGGCAGC	0.507													G|||	8	0.00159744	0.0061	0.0	5008	,	,		17768	0.0		0.0	False		,,,				2504	0.0					ENST00000525123.1	1.000000	0.670000	1	7.800000e-01	0.900000	0.897157	0.900000	1.000000																										0				34						c.(2671-2673)gCg>gTg		ATP/GTP binding protein-like 2		G	VAL/ALA	9,4393	15.5+/-35.6	0,9,2192	131.0	113.0	119.0		2672	0.6	0.0	11	dbSNP_134	119	0,8596		0,0,4298	yes	missense	AGBL2	NM_024783.3	64	0,9,6490	AA,AG,GG		0.0,0.2045,0.0692	benign	891/903	47681762	9,12989	2201	4298	6499	SO:0001583	missense	79841	25	121412	48				g.chr11:47681762G>A		CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"""cytoplasmic carboxypeptidase 2"""					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.2672C>T	chr11.hg19:g.47681762G>A	ENSP00000435582:p.Ala891Val	0					AGBL2_ENST00000298861.4_Missense_Mutation_p.A891V|AGBL2_ENST00000357610.3_Missense_Mutation_p.A893V	p.A891V	NM_024783.3	NP_079059.2	1	2	3	2.049718	Q5U5Z8	CBPC2_HUMAN		19	2957	-			A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Missense_Mutation	SNP	ENST00000525123.1	1	1	hg19	c.2672C>T	CCDS7944.1	1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	G	3.229	-0.157929	0.06544	0.002045	0.0	ENSG00000165923	ENST00000528609;ENST00000525123;ENST00000357610;ENST00000298861	T;T;T	0.09538	2.97;2.97;2.97	4.79	0.562	0.17290	4.79	0.562	0.17290	.	0.950318	0.08662	N	0.912279	T	0.03915	0.0110	N	0.16478	0.41	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.46555	-0.9183	10	0.13108	T	0.6	2.8316	6.4798	0.22057	0.4834:0.0:0.5166:0.0	.	891	Q5U5Z8	CBPC2_HUMAN	V	274;891;893;891	ENSP00000435582:A891V;ENSP00000350228:A893V;ENSP00000298861:A891V	ENSP00000298861:A891V	A	-	2	0	0	AGBL2	47638338	47638338	0.000000	0.05858	0.000000	0.03702	0.105000	0.19272	-0.127000	0.10547	0.017000	0.15025	-0.384000	0.06662	GCG	0.266673		TCGA-FB-AAPY-01A-11D-A40W-08	0.507	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	1	0	1		2	2	2	0		0	0	69		69	68	1	1.920000	-2.966615	1	0.260000	NM_024783			44	42		335	334	1		1	0		0	0	69	0		1.000000	7.202794e-02	0	1	0	3	0	44	335
NRXN2	9379	broad.mit.edu	37	11	64375284	64375284	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr11:64375284G>A	ENST00000377551.1	-	22	4734	c.4523C>T	c.(4522-4524)aCg>aTg	p.T1508M	NRXN2_ENST00000301894.2_Missense_Mutation_p.T462M|NRXN2_ENST00000377559.3_Missense_Mutation_p.T1438M|NRXN2_ENST00000265459.6_Missense_Mutation_p.T1508M|NRXN2_ENST00000409571.1_Missense_Mutation_p.T1501M			Q9P2S2	NRX2A_HUMAN	neurexin 2	1508					adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CTCGTCGTCCGTGGGGGGGAG	0.687																																						ENST00000377551.1	1.000000	0.380000	1	6.000000e-01	0.890000	0.832069	0.890000	1.000000																										0				71						c.(4522-4524)aCg>aTg		neurexin 2							38.0	33.0	35.0					11																	64375284		2189	4292	6481	SO:0001583	missense	9379	0	0					g.chr11:64375284G>A		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.4523C>T	chr11.hg19:g.64375284G>A	ENSP00000366774:p.Thr1508Met	0					NRXN2_ENST00000301894.2_Missense_Mutation_p.T462M|NRXN2_ENST00000265459.6_Missense_Mutation_p.T1508M|NRXN2_ENST00000377559.3_Missense_Mutation_p.T1438M|NRXN2_ENST00000409571.1_Missense_Mutation_p.T1501M	p.T1508M			1	2	3	2.039641	Q9P2S2	NRX2A_HUMAN		22	4734	-			A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	0	1	hg19	c.4523C>T	CCDS8077.1	1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.350585	0.61183	.	.	ENSG00000110076	ENST00000301894;ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T;T	0.65549	0.35;-0.15;-0.16;-0.15;-0.04	3.9	3.9	0.45041	3.9	3.9	0.45041	.	.	.	.	.	T	0.66790	0.2825	N	0.24115	0.695	0.50313	D	0.99986	D;D;D;D	0.89917	0.999;0.979;0.989;1.0	P;P;P;D	0.87578	0.83;0.582;0.63;0.998	T	0.71500	-0.4574	9	0.72032	D	0.01	.	13.7387	0.62833	0.0:0.0:1.0:0.0	.	1438;1508;1254;462	Q9P2S2-2;Q9P2S2;E7EV67;P58401	.;NRX2A_HUMAN;.;NRX2B_HUMAN	M	462;1508;1438;1508;1438;1501	ENSP00000301894:T462M;ENSP00000366774:T1508M;ENSP00000366782:T1438M;ENSP00000265459:T1508M;ENSP00000386416:T1501M	ENSP00000265459:T1508M	T	-	2	0	0	NRXN2	64131860	64131860	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	5.307000	0.65762	1.899000	0.54978	0.313000	0.20887	ACG	0.264779		TCGA-FB-AAPY-01A-11D-A40W-08	0.687	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	0	0	1		2	2	2	0		0	0	12		12	12	1	1.920000	-11.896020	1	0.260000	NM_015080			6	6		48	46	0		1	0		0	0	12	0		0.963891	6.872679e-01	0	0	0	20	0	6	48
MAP4K2	5871	broad.mit.edu	37	11	64566932	64566932	+	Silent	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr11:64566932G>A	ENST00000294066.2	-	14	1105	c.1014C>T	c.(1012-1014)ggC>ggT	p.G338G	MAP4K2_ENST00000377350.3_Silent_p.G338G|MAP4K2_ENST00000468062.1_5'Flank	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	338					activation of JUN kinase activity (GO:0007257)|immune response (GO:0006955)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|positive regulation of JNK cascade (GO:0046330)|protein phosphorylation (GO:0006468)|vesicle targeting (GO:0006903)	Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						TGCGTGGGGCGCCAAATTTCA	0.597																																						ENST00000294066.2	1.000000	0.060000	2.100000e-01	9.000000e-02	0.140000	0.184809	0.140000	0.140000																										0				8						c.(1012-1014)ggC>ggT		mitogen-activated protein kinase kinase kinase kinase 2							79.0	75.0	76.0					11																	64566932		2201	4297	6498	SO:0001819	synonymous_variant	5871	0	0					g.chr11:64566932G>A	BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6864	protein-coding gene	gene with protein product		603166		RAB8IP		7515885	Standard	NM_004579		Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.1014C>T	chr11.hg19:g.64566932G>A		0					MAP4K2_ENST00000468062.1_5'Flank|MAP4K2_ENST00000377350.3_Silent_p.G338G	p.G338G	NM_004579.3	NP_004570.2	1	2	3	2.039641	Q12851	M4K2_HUMAN		14	1105	-			Q86VU3	Silent	SNP	ENST00000294066.2	0	1	hg19	c.1014C>T	CCDS8082.1	0																																																																																								0.264779		TCGA-FB-AAPY-01A-11D-A40W-08	0.597	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105239.1	0	0	1		2	2	2	0		0	0	64		64	62	1	1.920000	-2.129064	0	0.260000	NM_004579			7	6		394	390	0		1	0		0	0	64	0		0.979934	6.266901e-02	0	0	0	20	0	7	394
NTM	50863	broad.mit.edu	37	11	132177680	132177680	+	Silent	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr11:132177680C>T	ENST00000374786.1	+	4	1103	c.624C>T	c.(622-624)gcC>gcT	p.A208A	NTM_ENST00000374791.3_Silent_p.A208A|NTM_ENST00000425719.2_Silent_p.A208A|NTM_ENST00000374784.1_Silent_p.A208A|NTM_ENST00000539799.1_Silent_p.A208A|NTM_ENST00000427481.2_Silent_p.A199A|NTM_ENST00000474900.1_3'UTR	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	208	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						ATGACGTGGCCGCGCCCGTGG	0.582																																						ENST00000374786.1	1.000000	0.760000	1	9.300000e-01	0.990000	0.972472	0.990000	1.000000																										0				56						c.(622-624)gcC>gcT		neurotrimin							89.0	77.0	81.0					11																	132177680		2201	4297	6498	SO:0001819	synonymous_variant	50863	1	121412	27				g.chr11:132177680C>T	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.624C>T	chr11.hg19:g.132177680C>T		0					NTM_ENST00000539799.1_Silent_p.A208A|NTM_ENST00000425719.2_Silent_p.A208A|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374784.1_Silent_p.A208A|NTM_ENST00000374791.3_Silent_p.A208A|NTM_ENST00000427481.2_Silent_p.A199A	p.A208A	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	1	2	3	2.039641	Q9P121	NTRI_HUMAN		4	1103	+			A0MTT2|Q6UXJ3|Q86VJ9	Silent	SNP	ENST00000374786.1	1	1	hg19	c.624C>T	CCDS8491.1	1																																																																																								0.264779		TCGA-FB-AAPY-01A-11D-A40W-08	0.582	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	1	0	1		2	2	2	0		0	0	41		41	40	1	1.920000	-20.000000	1	0.260000	NM_016522			26	26		154	151	1		1	0		0	0	41	0		1.000000	9.744702e-01	0	0	0	38	0	26	154
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000256078.4	1.000000	0.540000	1	6.800000e-01	0.850000	0.844974	0.850000	1.000000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes			Dom	yes		12	12p12.1	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog				"""L, E, M, O"""	L, E, M, O			pancreatic, colorectal, lung, thyroid, AML, others	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	2	121404	44	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	chr12.hg19:g.25398284C>T	ENSP00000256078:p.Gly12Asp	0	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	p.G12D	NM_033360.2	NP_203524.1	1	2	3	2.104873	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)	2	98	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	0	0	hg19	c.35G>A	CCDS8703.1	1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	0	KRAS	25289551	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	0.276920		TCGA-FB-AAPY-01A-11D-A40W-08	0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1		13	2	2	1		1	1	61		61	58	1	1.920000	-10.133150	1	0.260000	NM_033360			22	22		190	188	1		1	0	1	1	0	61	273		0.958067	2.110806e-01	1	1	29	6	255	22	190
LRP1	4035	broad.mit.edu	37	12	57578958	57578958	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr12:57578958A>G	ENST00000243077.3	+	40	6899	c.6433A>G	c.(6433-6435)Atc>Gtc	p.I2145V		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2145					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCTTAAAGACATCAAAGTCTT	0.627																																						ENST00000243077.3	1.000000	0.470000	8.700000e-01	5.600000e-01	0.670000	0.707914	0.670000	0.650000																										0				184						c.(6433-6435)Atc>Gtc		low density lipoprotein receptor-related protein 1	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						61.0	65.0	63.0					12																	57578958		2203	4300	6503	SO:0001583	missense	4035	0	0					g.chr12:57578958A>G	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.6433A>G	chr12.hg19:g.57578958A>G	ENSP00000243077:p.Ile2145Val	0						p.I2145V	NM_002332.2	NP_002323.2	1	2	3	2.104873	Q07954	LRP1_HUMAN		40	6899	+			Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	1	1	hg19	c.6433A>G	CCDS8932.1	0	.	.	.	.	.	.	.	.	.	.	A	12.65	2.002798	0.35320	.	.	ENSG00000123384	ENST00000243077	D	0.91180	-2.8	5.31	5.31	0.75309	5.31	5.31	0.75309	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000001	D	0.88683	0.6503	N	0.14661	0.345	0.80722	D	1	P	0.48640	0.913	P	0.61592	0.891	D	0.85470	0.1172	10	0.12103	T	0.63	.	14.2419	0.65963	1.0:0.0:0.0:0.0	.	2145	Q07954	LRP1_HUMAN	V	2145	ENSP00000243077:I2145V	ENSP00000243077:I2145V	I	+	1	0	0	LRP1	55865225	55865225	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	5.392000	0.66272	2.014000	0.59158	0.402000	0.26972	ATC	0.276920		TCGA-FB-AAPY-01A-11D-A40W-08	0.627	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	1	0	1		2	2	2	0		0	0	88		88	86	1	1.920000	-20.000000	1	0.260000	NM_002332			38	37		422	411	0		1	0		0	0	88	0		1.000000	5.594590e-01	0	0	0	22	0	38	422
MDM1	56890	broad.mit.edu	37	12	68720759	68720759	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr12:68720759G>A	ENST00000303145.7	-	3	262	c.176C>T	c.(175-177)cCt>cTt	p.P59L	MDM1_ENST00000540418.1_Intron|MDM1_ENST00000545724.1_5'UTR|MDM1_ENST00000430606.2_Missense_Mutation_p.P59L|MDM1_ENST00000393543.3_3'UTR|MDM1_ENST00000411698.2_Missense_Mutation_p.P59L	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	59					retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		GTCATGGTAAGGGACTCTTCT	0.413																																						ENST00000303145.7	1.000000	0.630000	9.400000e-01	7.300000e-01	0.830000	0.837529	0.830000	0.850000																										0				33						c.(175-177)cCt>cTt		Mdm1 nuclear protein homolog (mouse)							74.0	78.0	77.0					12																	68720759		2203	4300	6503	SO:0001583	missense	56890	1	121410	34				g.chr12:68720759G>A	AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"""Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"""			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.176C>T	chr12.hg19:g.68720759G>A	ENSP00000302537:p.Pro59Leu	1					MDM1_ENST00000545724.1_5'UTR|MDM1_ENST00000540418.1_Intron|MDM1_ENST00000430606.2_Missense_Mutation_p.P59L|MDM1_ENST00000393543.3_3'UTR|MDM1_ENST00000411698.2_Missense_Mutation_p.P59L	p.P59L	NM_017440.4	NP_059136.2	0	1	1	1.819842	Q8TC05	MDM1_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	3	262	-			B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Missense_Mutation	SNP	ENST00000303145.7	1	1	hg19	c.176C>T	CCDS8983.1	0	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110659	0.77210	.	.	ENSG00000111554	ENST00000303145;ENST00000411698;ENST00000541686;ENST00000430606	T;T;T;T	0.26957	1.7;1.7;1.7;1.7	5.1	5.1	0.69264	5.1	5.1	0.69264	.	0.115685	0.56097	D	0.000021	T	0.52141	0.1716	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.51395	-0.8711	9	.	.	.	-18.3387	17.0854	0.86610	0.0:0.0:1.0:0.0	.	59;59;59	E7EPQ3;Q8TC05-2;Q8TC05	.;.;MDM1_HUMAN	L	59;59;54;59	ENSP00000302537:P59L;ENSP00000391006:P59L;ENSP00000446000:P54L;ENSP00000408694:P59L	.	P	-	2	0	0	MDM1	67007026	67007026	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	6.242000	0.72376	2.532000	0.85374	0.561000	0.74099	CCT	0.150694		TCGA-FB-AAPY-01A-11D-A40W-08	0.413	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402402.1	1	0	1		2	2	2	0		0	0	78		78	77	1	1.920000	-2.807064	1	0.260000	NM_020128			44	44		297	293	1		1	0		0	0	78	0		1.000000	3.344040e-01	0	1	0	8	0	44	297
RBM19	9904	broad.mit.edu	37	12	114377796	114377796	+	Missense_Mutation	SNP	C	C	T	rs201979395		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr12:114377796C>T	ENST00000545145.2	-	15	1985	c.1907G>A	c.(1906-1908)cGc>cAc	p.R636H	RBM19_ENST00000392561.3_Missense_Mutation_p.R636H|RBM19_ENST00000261741.5_Missense_Mutation_p.R636H|RP11-780K2.1_ENST00000550206.1_RNA	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	636	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GAAGGCCTTGCGGGCCTCCAG	0.622																																						ENST00000545145.2	0.230000	0.040000	1.700000e-01	7.000000e-02	0.110000	0.127789	0.110000	0.110000																										0				55						c.(1906-1908)cGc>cAc		RNA binding motif protein 19		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	47.0	53.0	51.0		1907,1907,1907	2.4	1.0	12		51	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	RBM19	NM_001146698.1,NM_001146699.1,NM_016196.3	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	636/961,636/961,636/961	114377796	1,13005	2203	4300	6503	SO:0001583	missense	9904	0	0					g.chr12:114377796C>T	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.1907G>A	chr12.hg19:g.114377796C>T	ENSP00000442053:p.Arg636His	1					RP11-780K2.1_ENST00000550206.1_RNA|RBM19_ENST00000261741.5_Missense_Mutation_p.R636H|RBM19_ENST00000392561.3_Missense_Mutation_p.R636H	p.R636H	NM_001146699.1	NP_001140171.1	0	1	1	1.816916	Q9Y4C8	RBM19_HUMAN		15	1985	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	0	1	hg19	c.1907G>A	CCDS9172.1	0	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745338	0.69418	0.0	1.16E-4	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.09073	3.02;3.02;3.02	4.3	2.42	0.29668	4.3	2.42	0.29668	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.185022	0.44483	N	0.000448	T	0.19805	0.0476	M	0.65320	2	0.39781	D	0.972299	D	0.71674	0.998	D	0.68353	0.957	T	0.01146	-1.1437	10	0.87932	D	0	-11.8564	6.7325	0.23390	0.0:0.5626:0.0:0.4373	.	636	Q9Y4C8	RBM19_HUMAN	H	636	ENSP00000442053:R636H;ENSP00000376344:R636H;ENSP00000261741:R636H	ENSP00000261741:R636H	R	-	2	0	0	RBM19	112862179	112862179	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.445000	0.66594	0.820000	0.34516	0.561000	0.74099	CGC	0.151960		TCGA-FB-AAPY-01A-11D-A40W-08	0.622	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	0	0	1		2	2	2	0		0	0	54		54	54	1	1.920000	-1.927406	0	0.260000	NM_016196			6	6		354	347	0		1	0		0	0	54	0		0.963120	3.624288e-02	0	0	0	15	0	6	354
LCP1	3936	broad.mit.edu	37	13	46730641	46730641	+	Silent	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr13:46730641C>T	ENST00000398576.2	-	8	811	c.423G>A	c.(421-423)cgG>cgA	p.R141R	LCP1_ENST00000460190.1_5'Flank|LCP1_ENST00000323076.2_Silent_p.R141R			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	141	Actin-binding 1.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)	p.R141R(1)		breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		GGATGACATGCCGACAATCAG	0.383			T	BCL6	NHL																																	ENST00000398576.2	1.000000	0.020000	1.100000e-01	4.000000e-02	0.060000	0.127049	0.060000	0.060000				Dom	yes			Dom	yes		13	13q14.1-q14.3	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)				L	L	BCL6		NHL		1	Substitution - coding silent(1)	p.R141R(1)	kidney(1)	34						c.(421-423)cgG>cgA		lymphocyte cytosolic protein 1 (L-plastin)							251.0	241.0	244.0					13																	46730641		2203	4300	6503	SO:0001819	synonymous_variant	3936	0	0					g.chr13:46730641C>T	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.423G>A	chr13.hg19:g.46730641C>T		0					LCP1_ENST00000460190.1_5'Flank|LCP1_ENST00000323076.2_Silent_p.R141R	p.R141R			1	2	3	2.050384	P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	8	811	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	B2R613|B4DUA0|Q5TBN4	Silent	SNP	ENST00000398576.2	0	1	hg19	c.423G>A	CCDS9403.1	0																																																																																								0.266673		TCGA-FB-AAPY-01A-11D-A40W-08	0.383	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	0	0	1		2	2	2	0		0	0	103		103	103	1	1.920000	-1.751656	0	0.260000	NM_002298			6	8		709	700	0		1	0		0	0	103	0		0.963989	1.346060e-01	0	0	0	63	0	6	709
ESR2	2100	broad.mit.edu	37	14	64735549	64735549	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr14:64735549G>T	ENST00000341099.4	-	4	1033	c.616C>A	c.(616-618)Ctt>Att	p.L206I	ESR2_ENST00000553796.1_Missense_Mutation_p.L206I|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000353772.3_Missense_Mutation_p.L206I|ESR2_ENST00000357782.2_Missense_Mutation_p.L206I|ESR2_ENST00000554572.1_Missense_Mutation_p.L206I|ESR2_ENST00000358599.5_Missense_Mutation_p.L206I|ESR2_ENST00000555278.1_Missense_Mutation_p.L206I|ESR2_ENST00000542956.1_Missense_Mutation_p.L206I|ESR2_ENST00000557772.1_Missense_Mutation_p.L206I|ESR2_ENST00000267525.6_Missense_Mutation_p.L206I	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	206					brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	CACTTCCGAAGTCGGCAGGCC	0.478																																						ENST00000341099.4	1.000000	0.950000	1	9.900000e-01	0.990000	0.997447	0.990000	1.000000																										0				23						c.(616-618)Ctt>Att		estrogen receptor 2 (ER beta)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)						129.0	127.0	127.0					14																	64735549		2203	4300	6503	SO:0001583	missense	2100	0	0					g.chr14:64735549G>T	X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"""Nuclear hormone receptors"""	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.616C>A	chr14.hg19:g.64735549G>T	ENSP00000343925:p.Leu206Ile	0					ESR2_ENST00000357782.2_Missense_Mutation_p.L206I|ESR2_ENST00000557772.1_Missense_Mutation_p.L206I|ESR2_ENST00000267525.6_Missense_Mutation_p.L206I|ESR2_ENST00000353772.3_Missense_Mutation_p.L206I|ESR2_ENST00000542956.1_Missense_Mutation_p.L206I|ESR2_ENST00000555278.1_Missense_Mutation_p.L206I|ESR2_ENST00000553796.1_Missense_Mutation_p.L206I|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000358599.5_Missense_Mutation_p.L206I|ESR2_ENST00000554572.1_Missense_Mutation_p.L206I	p.L206I	NM_001437.2	NP_001428.1	1	2	3	2.030151	Q92731	ESR2_HUMAN		4	1033	-			A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Missense_Mutation	SNP	ENST00000341099.4	1	1	hg19	c.616C>A	CCDS9762.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.413647	0.96072	.	.	ENSG00000140009	ENST00000556275;ENST00000542956;ENST00000554572;ENST00000353772;ENST00000358599;ENST00000555278;ENST00000553796;ENST00000357782;ENST00000557772;ENST00000341099;ENST00000267525	D;D;D;D;D;D;D;D;D;D;D	0.97994	-4.65;-4.65;-4.65;-4.65;-4.65;-4.65;-4.65;-4.65;-4.65;-4.65;-4.65	5.67	5.67	0.87782	5.67	5.67	0.87782	Zinc finger, NHR/GATA-type (1);Nuclear hormone receptor, ligand-binding (1);Zinc finger, nuclear hormone receptor-type (5);	0.059913	0.64402	D	0.000002	D	0.98820	0.9602	M	0.82923	2.615	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.996;0.999;0.997;0.997;0.996	D	0.99758	1.1020	10	0.87932	D	0	.	19.7793	0.96412	0.0:0.0:1.0:0.0	.	206;206;206;206;206	Q92731-7;Q92731;Q92731-6;Q92731-5;F1D8N3	.;ESR2_HUMAN;.;.;.	I	206	ENSP00000452485:L206I;ENSP00000441792:L206I;ENSP00000450699:L206I;ENSP00000335551:L206I;ENSP00000351412:L206I;ENSP00000450488:L206I;ENSP00000452426:L206I;ENSP00000350427:L206I;ENSP00000451582:L206I;ENSP00000343925:L206I;ENSP00000267525:L206I	ENSP00000267525:L206I	L	-	1	0	0	ESR2	63805302	63805302	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.756000	0.98918	2.678000	0.91216	0.555000	0.69702	CTT	0.263828		TCGA-FB-AAPY-01A-11D-A40W-08	0.478	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280621.1	1	0	1		2	2	2	0		0	0	87		87	87	1	1.920000	-20.000000	1	0.260000				87	85		487	478	0		1	0		0	0	87	0		1.000000	0	0	0	0	1	0	87	487
ATP10A	57194	broad.mit.edu	37	15	25953443	25953443	+	Silent	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr15:25953443G>A	ENST00000356865.6	-	11	2460	c.2349C>T	c.(2347-2349)gaC>gaT	p.D783D		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	783					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCCCTCTGGCGTCAACTAGGT	0.502																																						ENST00000356865.6	1.000000	0.690000	1	8.100000e-01	0.940000	0.917706	0.940000	1.000000																										0				103						c.(2347-2349)gaC>gaT		ATPase, class V, type 10A							86.0	77.0	80.0					15																	25953443		2203	4300	6503	SO:0001819	synonymous_variant	57194	2	121412	36				g.chr15:25953443G>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2349C>T	chr15.hg19:g.25953443G>A		0						p.D783D	NM_024490.3	NP_077816.1	1	2	3	2.036004	O60312	AT10A_HUMAN		11	2460	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	1	1	hg19	c.2349C>T	CCDS32178.1	1																																																																																								0.264779		TCGA-FB-AAPY-01A-11D-A40W-08	0.502	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	1	0	1		2	2	2	0		0	0	55		55	51	1	1.920000	-17.880320	1	0.260000	NM_024490			44	44		320	318	0		1	0		0	0	55	0		1.000000	5.618492e-01	0	0	0	15	0	44	320
ATP10A	57194	broad.mit.edu	37	15	26026228	26026228	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr15:26026228C>T	ENST00000356865.6	-	2	703	c.592G>A	c.(592-594)Gcc>Acc	p.A198T		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	198					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCCAGGTTGGCGGTCTCGATG	0.602																																						ENST00000356865.6	1.000000	0.650000	1	7.600000e-01	0.880000	0.879937	0.880000	1.000000																										0				103						c.(592-594)Gcc>Acc		ATPase, class V, type 10A							86.0	86.0	86.0					15																	26026228		2203	4300	6503	SO:0001583	missense	57194	1	121412	31				g.chr15:26026228C>T	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.592G>A	chr15.hg19:g.26026228C>T	ENSP00000349325:p.Ala198Thr	0						p.A198T	NM_024490.3	NP_077816.1	1	2	3	2.036004	O60312	AT10A_HUMAN		2	703	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	1	1	hg19	c.592G>A	CCDS32178.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.527017	0.96431	.	.	ENSG00000206190	ENST00000356865	D	0.91996	-2.95	4.67	4.67	0.58626	4.67	4.67	0.58626	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.96163	0.8749	M	0.88775	2.98	0.58432	D	0.999998	D	0.60160	0.987	P	0.62491	0.903	D	0.96807	0.9594	10	0.66056	D	0.02	-27.9289	16.7413	0.85460	0.0:1.0:0.0:0.0	.	198	O60312	AT10A_HUMAN	T	198	ENSP00000349325:A198T	ENSP00000349325:A198T	A	-	1	0	0	ATP10A	23577321	23577321	1.000000	0.71417	0.948000	0.38648	0.963000	0.63663	5.657000	0.67996	2.428000	0.82296	0.561000	0.74099	GCC	0.264779		TCGA-FB-AAPY-01A-11D-A40W-08	0.602	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	1	0	1		2	2	2	0		0	0	88		88	85	1	1.920000	-3.075757	1	0.260000	NM_024490			45	41		351	338	1		1	0		0	0	88	0		1.000000	4.102712e-01	0	0	0	12	0	45	351
CCDC102A	92922	broad.mit.edu	37	16	57559977	57559977	+	Silent	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr16:57559977C>T	ENST00000258214.2	-	3	894	c.648G>A	c.(646-648)gaG>gaA	p.E216E		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	216										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						GGCTGCGCGCCTCCCAGCAGT	0.716																																						ENST00000258214.2	1.000000	0.520000	1	7.800000e-01	0.990000	0.924819	0.990000	1.000000																										0				8						c.(646-648)gaG>gaA		coiled-coil domain containing 102A							12.0	13.0	12.0					16																	57559977		2191	4288	6479	SO:0001819	synonymous_variant	92922	0	0					g.chr16:57559977C>T	BC008285	CCDS10784.1	16q13	2008-02-05			ENSG00000135736	ENSG00000135736			28097	protein-coding gene	gene with protein product						12477932	Standard	NM_033212		Approved	MGC10992	uc002elw.3	Q96A19	OTTHUMG00000133472	ENST00000258214.2:c.648G>A	chr16.hg19:g.57559977C>T		0						p.E216E	NM_033212.3	NP_149989.2	1	2	3	2.042215	Q96A19	C102A_HUMAN		3	894	-			Q9BT74	Silent	SNP	ENST00000258214.2	0	1	hg19	c.648G>A	CCDS10784.1	1																																																																																								0.265727		TCGA-FB-AAPY-01A-11D-A40W-08	0.716	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257348.1	1	0	1		2	2	2	0		0	0	10		10	10	1	1.920000	-14.577000	1	0.260000	NM_033212			7	7		42	42	1		1	0		0	0	10	0		0.983355	1.837844e-01	0	0	0	5	0	7	42
MAP2K4	6416	broad.mit.edu	37	17	11998898	11998898	+	Missense_Mutation	SNP	C	C	T	rs375500789		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr17:11998898C>T	ENST00000353533.5	+	4	463	c.400C>T	c.(400-402)Cgg>Tgg	p.R134W	MAP2K4_ENST00000581941.1_3'UTR|MAP2K4_ENST00000415385.3_Missense_Mutation_p.R145W	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	134	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.R134W(2)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		CCAGAGAATTCGGTCAACAGT	0.338			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	ENST00000353533.5	0.990000	0.600000	9.300000e-01	7.000000e-01	0.820000	0.821104	0.820000	0.840000				Rec	yes			Rec	yes		17	17p11.2	17p11.2	6416	D, Mis, N	mitogen-activated protein kinase kinase 4				E	E			pancreatic, breast, colorectal		13	Whole gene deletion(10)|Substitution - Missense(2)|Unknown(1)	p.0?(10)|p.R134W(2)|p.?(1)	breast(4)|ovary(4)|large_intestine(2)|biliary_tract(1)|skin(1)|pancreas(1)	100						c.(400-402)Cgg>Tgg		mitogen-activated protein kinase kinase 4							112.0	109.0	110.0					17																	11998898		2203	4300	6503	SO:0001583	missense	6416	0	0					g.chr17:11998898C>T	L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.400C>T	chr17.hg19:g.11998898C>T	ENSP00000262445:p.Arg134Trp	1					MAP2K4_ENST00000581941.1_3'UTR|MAP2K4_ENST00000415385.3_Missense_Mutation_p.R145W	p.R134W	NM_003010.2	NP_003001.1	0	1	1	1.766681	P45985	MP2K4_HUMAN		4	463	+		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)	B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Missense_Mutation	SNP	ENST00000353533.5	1	1	hg19	c.400C>T	CCDS11162.1	0	.	.	.	.	.	.	.	.	.	.	C	14.66	2.600257	0.46423	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	T;T	0.66815	-0.23;-0.23	5.97	4.94	0.65067	5.97	4.94	0.65067	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.83454	0.5258	M	0.87456	2.885	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.997	D	0.85848	0.1402	10	0.87932	D	0	.	14.9277	0.70893	0.1438:0.8562:0.0:0.0	.	6;145;134	B7ZA62;P45985-2;P45985	.;.;MP2K4_HUMAN	W	134;145;111;6	ENSP00000262445:R134W;ENSP00000410402:R145W	ENSP00000262445:R134W	R	+	1	2	2	MAP2K4	11939623	11939623	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.735000	0.62051	2.835000	0.97688	0.591000	0.81541	CGG	0.149425		TCGA-FB-AAPY-01A-11D-A40W-08	0.338	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1	1	0	1		2	2	2	0		0	0	58		58	57	1	1.920000	-2.967195	1	0.260000				34	34		231	229	1		1	0	1	0	0	58	211		1.000000	2.818035e-01	9.999999e-01	1	33	7	151	34	231
KRTAP4-2	85291	broad.mit.edu	37	17	39334112	39334112	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr17:39334112C>T	ENST00000377726.2	-	1	348	c.305G>A	c.(304-306)cGc>cAc	p.R102H		NM_033062.3	NP_149051	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	102	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament (GO:0045095)		p.R102H(1)		kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGCTGGGGCGGCAGCAGGT	0.657																																						ENST00000377726.2	1.000000	0.940000	1	9.900000e-01	0.990000	0.997079	0.990000	1.000000																										1	Substitution - Missense(1)	p.R102H(1)	upper_aerodigestive_tract(1)	7						c.(304-306)cGc>cAc		keratin associated protein 4-2							59.0	70.0	66.0					17																	39334112		2202	4296	6498	SO:0001583	missense	85291	5	121392	40				g.chr17:39334112C>T	AJ406934	CCDS11384.1	17q21.2	2013-06-25			ENSG00000244537	ENSG00000244537		"""Keratin associated proteins"""	18900	protein-coding gene	gene with protein product						11279113	Standard	NM_033062		Approved	KAP4.2	uc002hwd.3	Q9BYR5	OTTHUMG00000133437	ENST00000377726.2:c.305G>A	chr17.hg19:g.39334112C>T	ENSP00000366955:p.Arg102His	0						p.R102H	NM_033062.3	NP_149051	1	2	3	2.030134	Q9BYR5	KRA42_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)	1	348	-		Breast(137;0.000496)	A0JP64	Missense_Mutation	SNP	ENST00000377726.2	1	1	hg19	c.305G>A	CCDS11384.1	1	.	.	.	.	.	.	.	.	.	.	.	15.62	2.886123	0.51908	.	.	ENSG00000244537	ENST00000377726;ENST00000458321	T	0.01505	4.82	4.21	0.00697	0.14069	4.21	0.00697	0.14069	.	5.476650	0.00783	U	0.001287	T	0.04634	0.0126	M	0.74467	2.265	0.09310	N	1	D	0.53885	0.963	P	0.46389	0.515	T	0.42999	-0.9418	10	0.33141	T	0.24	.	6.1825	0.20480	0.5372:0.303:0.1599:0.0	.	102	Q9BYR5	KRA42_HUMAN	H	102;219	ENSP00000366955:R102H	ENSP00000366955:R102H	R	-	2	0	0	KRTAP4-2	36587638	36587638	0.000000	0.05858	0.005000	0.12908	0.538000	0.34931	-2.424000	0.01029	0.251000	0.21505	0.609000	0.83330	CGC	0.263828		TCGA-FB-AAPY-01A-11D-A40W-08	0.657	KRTAP4-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257305.1	1	0	1		2	2	2	1		1	0	84		84	83	1	1.920000	-20.000000	1	0.260000				78	75		434	428	1		1			1	0	84	0		1.000000	0	0	0	0	0	0	78	434
GJC1	10052	broad.mit.edu	37	17	42882797	42882797	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr17:42882797G>A	ENST00000426548.1	-	3	658	c.389C>T	c.(388-390)aCg>aTg	p.T130M	GJC1_ENST00000592524.1_Missense_Mutation_p.T130M|GJC1_ENST00000330514.4_Missense_Mutation_p.T130M|GJC1_ENST00000590758.1_Missense_Mutation_p.T130M	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	130					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle tissue development (GO:0048738)|cell development (GO:0048468)|cell-cell junction assembly (GO:0007043)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vasculogenesis (GO:0001570)|visual perception (GO:0007601)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion channel activity (GO:0005216)			NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				GTCCTCCTCCGTTTCTTCCAG	0.483																																						ENST00000426548.1	1.000000	0.810000	1	9.100000e-01	0.990000	0.967820	0.990000	1.000000																										0				19						c.(388-390)aCg>aTg		gap junction protein, gamma 1, 45kDa							154.0	141.0	146.0					17																	42882797		2203	4300	6503	SO:0001583	missense	10052	6	121412	40				g.chr17:42882797G>A	U03493	CCDS11487.1	17q21.31	2008-02-04	2007-11-06	2007-11-06		ENSG00000182963		"""Ion channels / Gap junction proteins (connexins)"""	4280	protein-coding gene	gene with protein product	"""connexin 45"""	608655	"""gap junction protein, alpha 7, 45kDa"""	GJA7		7966354	Standard	NM_005497		Approved	CX45	uc002ihl.3	P36383		ENST00000426548.1:c.389C>T	chr17.hg19:g.42882797G>A	ENSP00000411528:p.Thr130Met	0					GJC1_ENST00000592524.1_Missense_Mutation_p.T130M|GJC1_ENST00000330514.4_Missense_Mutation_p.T130M|GJC1_ENST00000590758.1_Missense_Mutation_p.T130M	p.T130M	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	1	2	3	2.030134	P36383	CXG1_HUMAN		3	658	-		Prostate(33;0.0959)	B3KW68|Q4VAY0	Missense_Mutation	SNP	ENST00000426548.1	1	1	hg19	c.389C>T	CCDS11487.1	1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.883056	0.33255	.	.	ENSG00000182963	ENST00000426548;ENST00000330514	D;D	0.97976	-4.64;-4.64	5.27	5.27	0.74061	5.27	5.27	0.74061	.	0.449024	0.23777	N	0.044678	D	0.96160	0.8748	L	0.29908	0.895	0.40774	D	0.983116	P	0.47484	0.896	P	0.47044	0.535	D	0.96891	0.9653	10	0.54805	T	0.06	.	17.8983	0.88896	0.0:0.0:1.0:0.0	.	130	P36383	CXG1_HUMAN	M	130	ENSP00000411528:T130M;ENSP00000333193:T130M	ENSP00000333193:T130M	T	-	2	0	0	GJC1	40238323	40238323	1.000000	0.71417	0.995000	0.50966	0.210000	0.24377	7.686000	0.84128	2.462000	0.83206	0.462000	0.41574	ACG	0.263828		TCGA-FB-AAPY-01A-11D-A40W-08	0.483	GJC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448661.1	1	0	1		2	2	2	0		0	0	93		93	90	1	1.920000	-2.690408	1	0.260000	NM_005497			78	79		516	508	1		1	0		0	0	93	0		1.000000	2.349599e-01	0	0	0	7	0	78	516
KCNH6	81033	broad.mit.edu	37	17	61611293	61611293	+	Missense_Mutation	SNP	C	C	T	rs184322799	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr17:61611293C>T	ENST00000583023.1	+	5	733	c.722C>T	c.(721-723)gCg>gTg	p.A241V	KCNH6_ENST00000580652.1_Missense_Mutation_p.A241V|KCNH6_ENST00000456941.2_Missense_Mutation_p.A241V|KCNH6_ENST00000581784.1_Missense_Mutation_p.A241V|KCNH6_ENST00000314672.5_Missense_Mutation_p.A241V	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	241					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.A241V(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	AAGCTGCAGGCGCCGCGCATC	0.672													C|||	4	0.000798722	0.0023	0.0	5008	,	,		16650	0.001		0.0	False		,,,				2504	0.0					ENST00000583023.1	1.000000	0.990000	1	9.900000e-01	0.990000	0.999799	0.990000	1.000000																										1	Substitution - Missense(1)	p.A241V(1)	endometrium(1)	54						c.(721-723)gCg>gTg		potassium voltage-gated channel, subfamily H (eag-related), member 6	Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	C	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	100.0	85.0	90.0		722,722	2.9	0.8	17		90	0,8600		0,0,4300	no	missense,missense	KCNH6	NM_173092.1,NM_030779.2	64,64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	241/906,241/995	61611293	1,13005	2203	4300	6503	SO:0001583	missense	81033	16	121410	43				g.chr17:61611293C>T	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.722C>T	chr17.hg19:g.61611293C>T	ENSP00000463533:p.Ala241Val	0					KCNH6_ENST00000581784.1_Missense_Mutation_p.A241V|KCNH6_ENST00000580652.1_Missense_Mutation_p.A241V|KCNH6_ENST00000314672.5_Missense_Mutation_p.A241V|KCNH6_ENST00000456941.2_Missense_Mutation_p.A241V	p.A241V	NM_030779.2	NP_110406.1	1	2	3	2.030134	Q9H252	KCNH6_HUMAN		5	733	+			Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	1	1	hg19	c.722C>T	CCDS11638.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.97	1.501304	0.26861	2.27E-4	0.0	ENSG00000173826	ENST00000314672;ENST00000456941	D;D	0.94650	-3.48;-3.48	3.9	2.93	0.34026	3.9	2.93	0.34026	.	0.064020	0.64402	D	0.000008	D	0.92645	0.7663	M	0.68952	2.095	0.50039	D	0.999849	B;B;P;B;B	0.47841	0.004;0.001;0.901;0.003;0.006	B;B;B;B;B	0.42319	0.007;0.004;0.383;0.002;0.005	D	0.91303	0.5068	10	0.49607	T	0.09	.	11.9936	0.53189	0.0:0.9134:0.0:0.0866	.	118;241;241;241;241	B4DPJ3;B4DKC0;Q9H252-2;Q9H252;Q9H252-3	.;.;.;KCNH6_HUMAN;.	V	241	ENSP00000318212:A241V;ENSP00000396900:A241V	ENSP00000318212:A241V	A	+	2	0	0	KCNH6	58965025	58965025	1.000000	0.71417	0.842000	0.33263	0.406000	0.30931	5.929000	0.70096	0.969000	0.38237	-0.657000	0.03884	GCG	0.263828		TCGA-FB-AAPY-01A-11D-A40W-08	0.672	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	1	0	1		2	2	2	0		0	0	73		73	68	1	1.920000	-4.565590	1	0.260000	NM_030779			79	78		385	380	1		1	0		0	0	73	0		1.000000	7.857973e-02	0	0	0	3	0	79	385
LRRC37A3	374819	broad.mit.edu	37	17	62893346	62893346	+	Silent	SNP	C	C	A	rs201745948		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr17:62893346C>A	ENST00000584306.1	-	3	560	c.30G>T	c.(28-30)gcG>gcT	p.A10A	LRRC37A3_ENST00000319651.5_Silent_p.A10A|RP11-927P21.2_ENST00000581622.1_RNA|LRRC37A3_ENST00000339474.5_Intron|RP11-927P21.1_ENST00000577938.1_RNA|LRRC37A3_ENST00000400877.3_Intron|LRRC37A3_ENST00000577487.1_5'Flank|RP11-927P21.1_ENST00000584131.1_RNA|RP11-927P21.1_ENST00000584959.1_RNA	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	10						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ACATGACACACGCTAGTGCCG	0.572																																						ENST00000584306.1	1.000000	0.030000	1.200000e-01	5.000000e-02	0.080000	0.116584	0.080000	0.080000																										0				40						c.(28-30)gcG>gcT		leucine rich repeat containing 37, member A3							63.0	135.0	111.0					17																	62893346		2178	4300	6478	SO:0001819	synonymous_variant	374819	0	0					g.chr17:62893346C>A	AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.30G>T	chr17.hg19:g.62893346C>A		0					RP11-927P21.1_ENST00000584131.1_RNA|LRRC37A3_ENST00000319651.5_Silent_p.A10A|RP11-927P21.1_ENST00000577938.1_RNA|LRRC37A3_ENST00000577487.1_5'Flank|RP11-927P21.1_ENST00000584959.1_RNA|RP11-927P21.2_ENST00000581622.1_RNA|LRRC37A3_ENST00000400877.3_Intron|LRRC37A3_ENST00000339474.5_Intron	p.A10A	NM_199340.2	NP_955372.2	1	2	3	2.030134	O60309	L37A3_HUMAN		3	560	-			Q49A01|Q49A80|Q8NB33	Silent	SNP	ENST00000584306.1	0	1	hg19	c.30G>T	CCDS32708.1	0																																																																																								0.263828		TCGA-FB-AAPY-01A-11D-A40W-08	0.572	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1	0	0	1		14	2	2	1		1	1	241		241	240	1	1.920000	-2.841452	1	0.260000	NM_199340			10	9		926	896	0		0	0		1	0	241	0		0.241578	2.157438e-03	0	0	0	6	0	10	926
APCDD1	147495	broad.mit.edu	37	18	10471951	10471951	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr18:10471951C>T	ENST00000355285.5	+	3	1021	c.667C>T	c.(667-669)Ctc>Ttc	p.L223F	APCDD1_ENST00000578882.1_Intron	NM_153000.4	NP_694545.1			adenomatosis polyposis coli down-regulated 1											NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		TCACCACAACCTCGACCACCT	0.572																																						ENST00000355285.5	1.000000	0.990000	1	9.900000e-01	0.990000	0.999998	0.990000	1.000000																										0				22						c.(667-669)Ctc>Ttc		adenomatosis polyposis coli down-regulated 1							110.0	103.0	105.0					18																	10471951		2203	4300	6503	SO:0001583	missense	147495	0	0					g.chr18:10471951C>T	AB056722	CCDS11849.1	18p11.21	2006-07-07			ENSG00000154856	ENSG00000154856			15718	protein-coding gene	gene with protein product		607479				12384519	Standard	NM_153000		Approved	B7323	uc002kom.4	Q8J025	OTTHUMG00000131635	ENST00000355285.5:c.667C>T	chr18.hg19:g.10471951C>T	ENSP00000347433:p.Leu223Phe	0					APCDD1_ENST00000578882.1_Intron	p.L223F	NM_153000.4	NP_694545.1	1	2	3	2.111398				3	1021	+				Missense_Mutation	SNP	ENST00000355285.5	1	1	hg19	c.667C>T	CCDS11849.1	1	.	.	.	.	.	.	.	.	.	.	C	5.558	0.287867	0.10513	.	.	ENSG00000154856	ENST00000355285;ENST00000423585	T	0.18174	2.23	5.3	1.14	0.20703	5.3	1.14	0.20703	.	0.067248	0.64402	D	0.000011	T	0.15825	0.0381	M	0.69823	2.125	0.80722	D	1	B	0.06786	0.001	B	0.11329	0.006	T	0.08743	-1.0707	10	0.14656	T	0.56	-22.2921	7.5727	0.27918	0.0:0.4399:0.0:0.5601	.	223	Q8J025	APCD1_HUMAN	F	223;274	ENSP00000347433:L223F	ENSP00000347433:L223F	L	+	1	0	0	APCDD1	10461951	10461951	1.000000	0.71417	0.931000	0.37212	0.062000	0.15995	1.147000	0.31602	0.329000	0.23460	0.655000	0.94253	CTC	0.277837		TCGA-FB-AAPY-01A-11D-A40W-08	0.572	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254529.2	1	0	1		20	2	2	0		0	1	114		114	111	1	1.920000	-3.342749	1	0.260000	NM_153000			123	123		578	568	1		1	0		0	0	114	0		1.000000	9.995072e-01	0	0	0	54	0	123	578
ROCK1	6093	broad.mit.edu	37	18	18562785	18562785	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr18:18562785C>T	ENST00000399799.2	-	21	3438	c.2498G>A	c.(2497-2499)aGa>aAa	p.R833K		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	833	Glu-rich.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TTCATTTCCTCTATACTGTCT	0.333																																						ENST00000399799.2			0	0																														0				16						c.(2497-2499)aGa>aAa		Rho-associated, coiled-coil containing protein kinase 1							111.0	105.0	107.0					18																	18562785		2203	4300	6503	SO:0001583	missense	6093	0	0					g.chr18:18562785C>T		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.2498G>A	chr18.hg19:g.18562785C>T	ENSP00000382697:p.Arg833Lys							p.R833K	NM_005406.2	NP_005397.1					Q13464	ROCK1_HUMAN		21	3438	-	Melanoma(1;0.165)		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	1	1	hg19	c.2498G>A	CCDS11870.2		.	.	.	.	.	.	.	.	.	.	C	16.46	3.130305	0.56721	.	.	ENSG00000067900	ENST00000399799	T	0.12879	2.64	5.17	5.17	0.71159	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.14787	0.0357	L	0.47716	1.5	0.58432	D	0.999991	B	0.06786	0.001	B	0.04013	0.001	T	0.09707	-1.0662	10	0.14252	T	0.57	.	18.8588	0.92264	0.0:1.0:0.0:0.0	.	833	Q13464	ROCK1_HUMAN	K	833	ENSP00000382697:R833K	ENSP00000382697:R833K	R	-	2	0	0	ROCK1	16816783	16816783	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	5.210000	0.65214	2.699000	0.92147	0.591000	0.81541	AGA			TCGA-FB-AAPY-01A-11D-A40W-08	0.333	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	1	0	1		2	2	2	0		0	0	55		55	55	1	1.920000	-2.744810	1	0.260000	NM_005406			52	52		351	347	0		1	0		0	0	55	0		1.000000	9.939542e-01	0	1	0	54	0	52	351
SMAD4	4089	broad.mit.edu	37	18	48581229	48581229	+	Nonsense_Mutation	SNP	C	C	A	rs377767331		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr18:48581229C>A	ENST00000342988.3	+	5	1071	c.533C>A	c.(532-534)tCa>tAa	p.S178*	SMAD4_ENST00000452201.2_3'UTR|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.S178*|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.S178*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	178					atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(3)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GAAGGACATTCAATTCAAACC	0.438																																						ENST00000342988.3	1.000000	0.810000	9.900000e-01	8.900000e-01	0.950000	0.946001	0.950000	0.990000																										39	Whole gene deletion(36)|Unknown(3)	p.0?(36)|p.?(3)	pancreas(26)|large_intestine(3)|stomach(3)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	454	GRCh37	CM994756	SMAD4	M		c.(532-534)tCa>tAa		SMAD family member 4							196.0	138.0	157.0					18																	48581229		2203	4300	6503	SO:0001587	stop_gained	4089	0	0					g.chr18:48581229C>A	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.533C>A	chr18.hg19:g.48581229C>A	ENSP00000341551:p.Ser178*	1					SMAD4_ENST00000452201.2_3'UTR|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.S178*|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.S178*	p.S178*	NM_005359.5	NP_005350.1	0	1	1	1.766790	Q13485	SMAD4_HUMAN		5	1071	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	A8K405	Nonsense_Mutation	SNP	ENST00000342988.3	0	1	hg19	c.533C>A	CCDS11950.1	1	.	.	.	.	.	.	.	.	.	.	C	42	9.219139	0.99105	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	.	.	.	5.86	5.86	0.93980	5.86	5.86	0.93980	.	0.282373	0.35378	N	0.003258	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	19.3335	0.94306	0.0:1.0:0.0:0.0	.	.	.	.	X	178	.	ENSP00000341551:S178X	S	+	2	0	0	SMAD4	46835227	46835227	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.952000	0.56691	2.937000	0.99478	0.650000	0.86243	TCA	0.149425		TCGA-FB-AAPY-01A-11D-A40W-08	0.438	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	1	0	1		2	2	2	0		0	0	79		79	77	1	1.920000	-3.253371	1	0.260000	NM_005359			68	67		332	328	1		1	1	1	0	0	79	580		1.000000	9.472578e-01	1	3	83	23	516	68	332
AKT2	208	broad.mit.edu	37	19	40762881	40762881	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr19:40762881C>T	ENST00000392038.2	-	3	425	c.127G>A	c.(127-129)Gag>Aag	p.E43K	AKT2_ENST00000424901.1_Missense_Mutation_p.E43K|AKT2_ENST00000579047.1_5'UTR|AKT2_ENST00000311278.6_Missense_Mutation_p.E43K	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	43	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			TCAGGGGCCTCGGGCCTCTCC	0.562			A		"""ovarian, pancreatic """																																	ENST00000392038.2	0.310000	0.060000	2.400000e-01	1.000000e-01	0.160000	0.175389	0.160000	0.150000				Dom	yes			Dom	yes		19	19q13.1-q13.2	19q13.1-q13.2	208	A	v-akt murine thymoma viral oncogene homolog 2				E	E			ovarian, pancreatic 		0				27						c.(127-129)Gag>Aag		v-akt murine thymoma viral oncogene homolog 2							88.0	83.0	84.0					19																	40762881		2203	4300	6503	SO:0001583	missense	208	0	0					g.chr19:40762881C>T	M77198	CCDS12552.1	19q13.1-q13.2	2013-01-10			ENSG00000105221	ENSG00000105221	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	392	protein-coding gene	gene with protein product		164731				1409633	Standard	NM_001626		Approved		uc002onf.3	P31751	OTTHUMG00000137375	ENST00000392038.2:c.127G>A	chr19.hg19:g.40762881C>T	ENSP00000375892:p.Glu43Lys	1					AKT2_ENST00000311278.6_Missense_Mutation_p.E43K|AKT2_ENST00000424901.1_Missense_Mutation_p.E43K|AKT2_ENST00000579047.1_5'UTR	p.E43K	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	1	2	3	2.291445	P31751	AKT2_HUMAN	Lung(22;0.000499)	3	425	-			B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	Missense_Mutation	SNP	ENST00000392038.2	0	1	hg19	c.127G>A	CCDS12552.1	0	.	.	.	.	.	.	.	.	.	.	C	15.56	2.868462	0.51588	.	.	ENSG00000105221	ENST00000392038;ENST00000358335;ENST00000424901;ENST00000311278;ENST00000537834;ENST00000452077;ENST00000392037;ENST00000416362;ENST00000423127;ENST00000456441;ENST00000416994;ENST00000427375;ENST00000441941	T;T;T;T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	5.27	5.27	0.74061	5.27	5.27	0.74061	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.093111	0.64402	D	0.000001	T	0.23688	0.0573	N	0.10733	0.035	0.49798	D	0.999823	B;B;B	0.22480	0.07;0.027;0.008	B;B;B	0.19666	0.026;0.015;0.004	T	0.09596	-1.0667	10	0.07482	T	0.82	.	17.8288	0.88674	0.0:1.0:0.0:0.0	.	43;43;43	B7Z8Z9;Q0VAN0;P31751	.;.;AKT2_HUMAN	K	43;42;43;43;43;43;43;43;43;43;43;43;43	ENSP00000375892:E43K;ENSP00000399532:E43K;ENSP00000309428:E43K;ENSP00000404083:E43K;ENSP00000375891:E43K;ENSP00000407999:E43K;ENSP00000403842:E43K;ENSP00000396532:E43K;ENSP00000392458:E43K;ENSP00000403890:E43K;ENSP00000396968:E43K	ENSP00000309428:E43K	E	-	1	0	0	AKT2	45454721	45454721	0.888000	0.30383	0.953000	0.39169	0.965000	0.64279	1.770000	0.38532	2.758000	0.94735	0.561000	0.74099	GAG	0.345133		TCGA-FB-AAPY-01A-11D-A40W-08	0.562	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268029.1	0	0	1		2	2	2	0		0	0	60		60	58	1	1.920000	-2.312410	0	0.260000	NM_001626			6	6		337	330	0		1	0		0	0	60	0		0.963042	5.061951e-01	0	1	0	87	0	6	337
ZNF114	163071	broad.mit.edu	37	19	48789965	48789965	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr19:48789965G>A	ENST00000595607.1	+	6	1578	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	ZNF114_ENST00000315849.1_Missense_Mutation_p.E362K|ZNF114_ENST00000597695.1_Missense_Mutation_p.E328K|ZNF114_ENST00000600687.1_Missense_Mutation_p.E362K			Q8NC26	ZN114_HUMAN	zinc finger protein 114	362					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		GAAGCCCTACGAATGTGAAGA	0.388																																						ENST00000595607.1	1.000000	0.990000	1	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										0				18						c.(1084-1086)Gaa>Aaa		zinc finger protein 114							113.0	112.0	113.0					19																	48789965		2203	4300	6503	SO:0001583	missense	163071	0	0					g.chr19:48789965G>A	BC014935	CCDS12713.1, CCDS74412.1	19q13.32	2013-01-08			ENSG00000178150	ENSG00000178150		"""Zinc fingers, C2H2-type"", ""-"""	12894	protein-coding gene	gene with protein product		603996					Standard	XM_005258580		Approved	MGC17986	uc002pim.1	Q8NC26		ENST00000595607.1:c.1084G>A	chr19.hg19:g.48789965G>A	ENSP00000469998:p.Glu362Lys	1					ZNF114_ENST00000315849.1_Missense_Mutation_p.E362K|ZNF114_ENST00000597695.1_Missense_Mutation_p.E328K|ZNF114_ENST00000600687.1_Missense_Mutation_p.E362K	p.E362K			1	2	3	2.291445	Q8NC26	ZN114_HUMAN		6	1578	+		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	A8K6B0|Q08AQ6	Missense_Mutation	SNP	ENST00000595607.1	1	1	hg19	c.1084G>A	CCDS12713.1	1	.	.	.	.	.	.	.	.	.	.	G	5.803	0.332407	0.10956	.	.	ENSG00000178150	ENST00000315849	T	0.19250	2.16	2.35	-1.76	0.08006	2.35	-1.76	0.08006	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05777	0.0151	N	0.01576	-0.805	0.09310	N	1	B	0.24882	0.113	B	0.16289	0.015	T	0.41627	-0.9498	9	0.16420	T	0.52	.	6.9118	0.24338	0.6724:0.0:0.3276:0.0	.	362	Q8NC26	ZN114_HUMAN	K	362	ENSP00000318898:E362K	ENSP00000318898:E362K	E	+	1	0	0	ZNF114	53481777	53481777	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-1.780000	0.01775	-0.303000	0.08856	0.205000	0.17691	GAA	0.345133		TCGA-FB-AAPY-01A-11D-A40W-08	0.388	ZNF114-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465601.1	0	0	1		2	2	2	0		0	0	132		132	129	1	1.920000	-8.001620	1	0.260000	NM_153608			229	224		662	649	1		1	0		0	0	132	0		1.000000	0	0	0	0	1	0	229	662
CNOT3	4849	broad.mit.edu	37	19	54649652	54649652	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr19:54649652C>T	ENST00000406403.1	+	8	2313	c.710C>T	c.(709-711)gCg>gTg	p.A237V	CNOT3_ENST00000358389.3_Missense_Mutation_p.A56V|CNOT3_ENST00000221232.5_Missense_Mutation_p.A237V			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	237					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					ACAGCACAGGCGCTGGTCGCC	0.632																																						ENST00000406403.1	0.670000	0.280000	5.700000e-01	3.600000e-01	0.460000	0.474233	0.460000	0.450000																										0				28						c.(709-711)gCg>gTg		CCR4-NOT transcription complex, subunit 3							115.0	94.0	101.0					19																	54649652		2203	4300	6503	SO:0001583	missense	4849	2	121412	34				g.chr19:54649652C>T	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.710C>T	chr19.hg19:g.54649652C>T	ENSP00000383954:p.Ala237Val	1					CNOT3_ENST00000221232.5_Missense_Mutation_p.A237V|CNOT3_ENST00000358389.3_Missense_Mutation_p.A56V	p.A237V			1	2	3	2.303890	O75175	CNOT3_HUMAN		8	2313	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	1	1	hg19	c.710C>T	CCDS12880.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.172407|5.172407	0.94807|0.94807	.|.	.|.	ENSG00000088038|ENSG00000088038	ENST00000221232;ENST00000358389;ENST00000406403|ENST00000440571	T;T;T|.	0.61510|.	0.89;0.1;0.89|.	4.79|4.79	4.79|4.79	0.61399|0.61399	4.79|4.79	4.79|4.79	0.61399|0.61399	.|.	0.179711|.	0.48767|.	D|.	0.000163|.	T|T	0.58047|0.58047	0.2095|0.2095	L|L	0.34521|0.34521	1.04|1.04	0.52099|0.52099	D|D	0.999947|0.999947	D;P;D|.	0.67145|.	0.978;0.886;0.996|.	B;B;P|.	0.47786|.	0.313;0.206;0.557|.	T|T	0.52968|0.52968	-0.8504|-0.8504	10|5	0.41790|.	T|.	0.15|.	-26.6693|-26.6693	17.1265|17.1265	0.86715|0.86715	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	237;237;161|.	B7Z6J7;O75175;Q6ZMJ6|.	.;CNOT3_HUMAN;.|.	V|C	237;56;237|159	ENSP00000221232:A237V;ENSP00000351159:A56V;ENSP00000383954:A237V|.	ENSP00000221232:A237V|.	A|R	+|+	2|1	0|0	0|0	CNOT3|CNOT3	59341464|59341464	59341464|59341464	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.923000|6.923000	0.75817|0.75817	2.663000|2.663000	0.90544|0.90544	0.655000|0.655000	0.94253|0.94253	GCG|CGC	0.345133		TCGA-FB-AAPY-01A-11D-A40W-08	0.632	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	1	0	1		2	2	2	0		0	0	48		48	45	1	1.920000	-19.984690	1	0.260000	NM_014516			20	18		361	346	0		1	1		0	0	48	0		0.999993	7.085765e-01	0	5	0	41	0	20	361
C1orf127	148345	broad.mit.edu	37	1	11007918	11007918	+	Silent	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:11007918C>T	ENST00000377008.4	-	11	2219	c.1773G>A	c.(1771-1773)acG>acA	p.T591T	C1orf127_ENST00000377004.4_Silent_p.T758T			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	591										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		TCAGGGTTTGCGTGGATGGAG	0.672																																						ENST00000377008.4	1.000000	0.500000	1	6.500000e-01	0.840000	0.830815	0.840000	1.000000																										0				32						c.(1771-1773)acG>acA		chromosome 1 open reading frame 127							46.0	42.0	43.0					1																	11007918		2203	4300	6503	SO:0001819	synonymous_variant	148345	1	121400	28				g.chr1:11007918C>T	AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.1773G>A	chr1.hg19:g.11007918C>T		0					C1orf127_ENST00000377004.4_Silent_p.T758T	p.T591T			1	2	3	2.049694	Q8N9H9	CA127_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	11	2219	-	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	A0AVG8|A6NKM7|Q5VXJ2	Silent	SNP	ENST00000377008.4	0	1	hg19	c.1773G>A		0	.	.	.	.	.	.	.	.	.	.	c	2.475	-0.321065	0.05386	.	.	ENSG00000175262	ENST00000418570;ENST00000520253	.	.	.	3.59	-6.14	0.02111	3.59	-6.14	0.02111	.	.	.	.	.	T	0.20495	0.0493	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30592	-0.9973	4	.	.	.	0.8678	5.6596	0.17662	0.0:0.2003:0.281:0.5187	.	.	.	.	H	593;710	.	.	R	-	2	0	0	C1orf127	10930505	10930505	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.158000	0.10070	-1.131000	0.02910	-0.930000	0.02707	CGC	0.266673		TCGA-FB-AAPY-01A-11D-A40W-08	0.672	C1orf127-202	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	20		20	20	1	1.920000	-3.222465	1	0.260000	NM_173507			16	15		135	133	1		1	0		0	0	20	0		0.999941	7.777647e-01	0	0	0	26	0	16	135
VPS13D	55187	broad.mit.edu	37	1	12516159	12516159	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:12516159G>A	ENST00000358136.3	+	66	12569	c.12439G>A	c.(12439-12441)Gta>Ata	p.V4147I	VPS13D_ENST00000496628.1_Intron|VPS13D_ENST00000356315.4_Missense_Mutation_p.V4122I|VPS13D_ENST00000543766.1_Missense_Mutation_p.V145I	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGAACACCTTGTAGCCGGCAT	0.532																																						ENST00000358136.3	1.000000	0.030000	1.800000e-01	6.000000e-02	0.110000	0.169453	0.110000	0.100000																										0				130						c.(12439-12441)Gta>Ata		vacuolar protein sorting 13 homolog D (S. cerevisiae)							100.0	74.0	83.0					1																	12516159		2203	4300	6503	SO:0001583	missense	55187	0	0					g.chr1:12516159G>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.12439G>A	chr1.hg19:g.12516159G>A	ENSP00000350854:p.Val4147Ile	0					VPS13D_ENST00000543766.1_Missense_Mutation_p.V145I|VPS13D_ENST00000356315.4_Missense_Mutation_p.V4122I|VPS13D_ENST00000496628.1_Intron	p.V4147I	NM_015378.2	NP_056193.2	1	2	3	2.049694				66	12569	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		Missense_Mutation	SNP	ENST00000358136.3	0	1	hg19	c.12439G>A	CCDS30588.1	0	.	.	.	.	.	.	.	.	.	.	G	36	5.629524	0.96671	.	.	ENSG00000048707	ENST00000356315;ENST00000358136;ENST00000543766	T;T;T	0.78003	0.59;0.59;-1.14	5.84	5.84	0.93424	5.84	5.84	0.93424	.	0.109616	0.64402	D	0.000009	D	0.86806	0.6021	M	0.71581	2.175	0.80722	D	1	P;D;D	0.67145	0.724;0.99;0.996	B;P;P	0.61940	0.372;0.896;0.889	D	0.85069	0.0939	10	0.40728	T	0.16	.	20.1454	0.98074	0.0:0.0:1.0:0.0	.	145;4122;4146	F5GX56;Q5THJ4-2;Q5THJ4	.;.;VP13D_HUMAN	I	4122;4147;145	ENSP00000348666:V4122I;ENSP00000350854:V4147I;ENSP00000441122:V145I	ENSP00000348666:V4122I	V	+	1	0	0	VPS13D	12438746	12438746	1.000000	0.71417	0.694000	0.30210	0.991000	0.79684	7.571000	0.82399	2.748000	0.94277	0.650000	0.86243	GTA	0.266673		TCGA-FB-AAPY-01A-11D-A40W-08	0.532	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	0	0	1		21	5	2	1		1	1	56		56	55	1	1.920000	-3.307309	1	0.260000	NM_015378			5	5		377	372	0		0	0		1	0	56	0		0.000920	1.919548e-03	0	0	0	46	0	5	377
UBR4	23352	broad.mit.edu	37	1	19439055	19439055	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:19439055G>A	ENST00000375254.3	-	78	11791	c.11764C>T	c.(11764-11766)Cgg>Tgg	p.R3922W	UBR4_ENST00000375218.3_3'UTR|UBR4_ENST00000375217.2_Missense_Mutation_p.R3915W|UBR4_ENST00000375267.2_Missense_Mutation_p.R3922W|UBR4_ENST00000375226.2_Missense_Mutation_p.R3898W	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3922					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ACCTCCTCCCGCATGGCCGCA	0.602																																						ENST00000375254.3	1.000000	0.030000	1.700000e-01	6.000000e-02	0.100000	0.169033	0.100000	0.100000																										0				171						c.(11764-11766)Cgg>Tgg		ubiquitin protein ligase E3 component n-recognin 4							64.0	70.0	68.0					1																	19439055		2203	4300	6503	SO:0001583	missense	23352	0	0					g.chr1:19439055G>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.11764C>T	chr1.hg19:g.19439055G>A	ENSP00000364403:p.Arg3922Trp	0					UBR4_ENST00000375217.2_Missense_Mutation_p.R3915W|UBR4_ENST00000375267.2_Missense_Mutation_p.R3922W|UBR4_ENST00000375226.2_Missense_Mutation_p.R3898W|UBR4_ENST00000375218.3_3'UTR	p.R3922W	NM_020765.2	NP_065816.2	1	2	3	2.051659	Q5T4S7	UBR4_HUMAN		78	11791	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	0	1	hg19	c.11764C>T	CCDS189.1	0	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187593	0.78789	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.85	2.67	0.31697	5.85	2.67	0.31697	.	0.000000	0.85682	D	0.000000	D	0.84437	0.5472	L	0.58810	1.83	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.85499	0.1190	10	0.87932	D	0	.	13.6518	0.62314	0.0:0.0:0.5163:0.4837	.	3922	Q5T4S7	UBR4_HUMAN	W	3922;3922;3915;3898	ENSP00000364403:R3922W;ENSP00000364416:R3922W;ENSP00000364365:R3915W;ENSP00000364374:R3898W	ENSP00000364365:R3915W	R	-	1	2	2	UBR4	19311642	19311642	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.609000	0.36858	0.734000	0.32515	0.655000	0.94253	CGG	0.267617		TCGA-FB-AAPY-01A-11D-A40W-08	0.602	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	0	0	1		2	2	2	0		0	0	65		65	61	1	1.920000	-2.642146	1	0.260000	NM_020765			5	6		407	402	0		1	0		0	0	65	0		0.936290	3.058344e-02	0	0	0	18	0	5	407
DCAF8	50717	broad.mit.edu	37	1	160213756	160213756	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:160213756C>T	ENST00000368073.3	-	3	477	c.43G>A	c.(43-45)Gct>Act	p.A15T	DCAF8_ENST00000326837.2_Missense_Mutation_p.A15T|DCAF8_ENST00000368074.1_Missense_Mutation_p.A15T|DCAF8_ENST00000610139.1_Missense_Mutation_p.A15T|DCAF8_ENST00000556710.1_Missense_Mutation_p.A169T|DCAF8_ENST00000475733.1_Missense_Mutation_p.A15T|DCAF8_ENST00000608310.1_Missense_Mutation_p.A169T			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	15					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						TTACCATTAGCTAAGTCTGTT	0.463																																						ENST00000368073.3	1.000000	0.810000	1	8.900000e-01	0.980000	0.959085	0.980000	1.000000																										0				33						c.(43-45)Gct>Act		DDB1 and CUL4 associated factor 8							319.0	264.0	283.0					1																	160213756		2203	4300	6503	SO:0001583	missense	50717	0	0					g.chr1:160213756C>T	AK093176	CCDS1200.1	1q22-q23	2013-01-09	2009-07-17	2009-07-17	ENSG00000132716	ENSG00000132716		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24891	protein-coding gene	gene with protein product		615820	"""WD repeat domain 42A"""	WDR42A		11401431	Standard	NM_015726		Approved	H326, FLJ35857	uc010pjb.1	Q5TAQ9	OTTHUMG00000031604	ENST00000368073.3:c.43G>A	chr1.hg19:g.160213756C>T	ENSP00000357052:p.Ala15Thr	0					DCAF8_ENST00000610139.1_Missense_Mutation_p.A15T|DCAF8_ENST00000326837.2_Missense_Mutation_p.A15T|DCAF8_ENST00000608310.1_Missense_Mutation_p.A169T|DCAF8_ENST00000475733.1_Missense_Mutation_p.A15T|DCAF8_ENST00000556710.1_Missense_Mutation_p.A169T|DCAF8_ENST00000368074.1_Missense_Mutation_p.A15T	p.A15T			1	2	3	2.039386	Q5TAQ9	DCAF8_HUMAN		3	477	-			D3DVE6|Q12839|Q4QQI6|Q53F14|Q66K50|Q68CS7|Q96E00	Missense_Mutation	SNP	ENST00000368073.3	1	1	hg19	c.43G>A	CCDS1200.1	1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395161	0.62066	.	.	ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000258465	ENST00000368073;ENST00000326837;ENST00000368074;ENST00000555195;ENST00000540855;ENST00000447377;ENST00000440682;ENST00000407642;ENST00000419626;ENST00000556710	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.13;-0.13	5.48	5.48	0.80851	5.48	5.48	0.80851	.	0.098728	0.39020	U	0.001496	T	0.36552	0.0971	N	0.22421	0.69	0.38321	D	0.943512	P;B;B	0.37330	0.59;0.006;0.0	B;B;B	0.37304	0.246;0.007;0.0	T	0.33163	-0.9879	10	0.13108	T	0.6	.	14.4304	0.67246	0.0:0.8517:0.1483:0.0	.	169;15;15	G3V3G9;Q5TAQ9-2;Q5TAQ9	.;.;DCAF8_HUMAN	T	15;15;15;169;15;15;15;15;15;169	ENSP00000357052:A15T;ENSP00000318227:A15T;ENSP00000357053:A15T;ENSP00000451989:A169T;ENSP00000451235:A169T	ENSP00000318227:A15T	A	-	1	0	0	RP11-574F21.3;DCAF8	158480380	158480380	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.360000	0.44151	2.575000	0.86900	0.655000	0.94253	GCT	0.264779		TCGA-FB-AAPY-01A-11D-A40W-08	0.463	DCAF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077402.2	1	0	1		2	2	2	0		0	0	191		191	187	1	1.920000	-20.000000	1	0.260000	NM_015726			112	112		771	760	1		1	1		0	0	191	0		1.000000	9.644134e-01	0	7	0	32	0	112	771
GRIK3	2899	broad.mit.edu	37	1	37307495	37307495	+	Missense_Mutation	SNP	C	C	T	rs377447344		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:37307495C>T	ENST00000373091.3	-	10	1388	c.1372G>A	c.(1372-1374)Ggg>Agg	p.G458R	GRIK3_ENST00000373093.4_Missense_Mutation_p.G458R	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	458					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CGGTCATTCCCGTATAGCGTC	0.572																																						ENST00000373091.3	1.000000	0.730000	1	8.200000e-01	0.910000	0.911585	0.910000	1.000000																										0				89						c.(1372-1374)Ggg>Agg		glutamate receptor, ionotropic, kainate 3		C	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	186.0	172.0	177.0		1372	4.9	0.9	1		177	0,8600		0,0,4300	no	missense	GRIK3	NM_000831.3	125	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	458/920	37307495	1,13005	2203	4300	6503	SO:0001583	missense	2899	2	121412	39				g.chr1:37307495C>T	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1372G>A	chr1.hg19:g.37307495C>T	ENSP00000362183:p.Gly458Arg	0					GRIK3_ENST00000373093.4_Missense_Mutation_p.G458R	p.G458R	NM_000831.3	NP_000822.2	1	2	3	2.051659	Q13003	GRIK3_HUMAN		10	1388	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	1	1	hg19	c.1372G>A	CCDS416.1	1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.779833	0.70222	2.27E-4	0.0	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.80123	-1.34;-1.34	4.95	4.95	0.65309	4.95	4.95	0.65309	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.93485	0.7921	H	0.97051	3.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95656	0.8711	10	0.87932	D	0	.	18.5686	0.91126	0.0:1.0:0.0:0.0	.	458;458	A9Z1Z8;Q13003	.;GRIK3_HUMAN	R	458	ENSP00000362183:G458R;ENSP00000362185:G458R	ENSP00000362183:G458R	G	-	1	0	0	GRIK3	37080082	37080082	1.000000	0.71417	0.904000	0.35570	0.167000	0.22549	5.959000	0.70339	2.446000	0.82766	0.655000	0.94253	GGG	0.267617		TCGA-FB-AAPY-01A-11D-A40W-08	0.572	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	1	0	1		2	2	2	0		0	0	111		111	107	1	1.920000	-2.213283	0	0.260000	NM_000831			81	79		610	602	1		1			0	0	111	0		1.000000	0	0	0	0	0	0	81	610
ADSS	159	broad.mit.edu	37	1	244574656	244574656	+	Silent	SNP	C	C	T	rs191651118		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr1:244574656C>T	ENST00000366535.3	-	12	1567	c.1251G>A	c.(1249-1251)gcG>gcA	p.A417A	RP11-518L10.5_ENST00000417765.1_RNA	NM_001126.3	NP_001117.2			adenylosuccinate synthase											endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)			GTTCTTTAAACGCCCTTGCAT	0.333													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18077	0.0		0.0	False		,,,				2504	0.0					ENST00000366535.3	1.000000	0.990000	1	9.900000e-01	0.990000	0.998896	0.990000	1.000000																										0				12						c.(1249-1251)gcG>gcA		adenylosuccinate synthase							168.0	162.0	164.0					1																	244574656		2203	4300	6503	SO:0001819	synonymous_variant	159	4	121408	35				g.chr1:244574656C>T	BC012356	CCDS1624.1	1q44	2008-02-05			ENSG00000035687	ENSG00000035687	6.3.4.4		292	protein-coding gene	gene with protein product		103060				2004783, 1592113	Standard	NM_001126		Approved		uc001iaj.3	P30520	OTTHUMG00000040102	ENST00000366535.3:c.1251G>A	chr1.hg19:g.244574656C>T		0					RP11-518L10.5_ENST00000417765.1_RNA	p.A417A	NM_001126.3	NP_001117.2	1	2	3	2.046262			all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)	12	1567	-	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)		Silent	SNP	ENST00000366535.3	1	1	hg19	c.1251G>A	CCDS1624.1	1																																																																																								0.266673		TCGA-FB-AAPY-01A-11D-A40W-08	0.333	ADSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096697.1	1	0	1		2	2	2	0		0	0	84		84	84	1	1.920000	-20.000000	1	0.260000	NM_001126			65	66		335	333	1		1	1		0	0	84	0		1.000000	9.999951e-01	0	9	0	85	0	65	335
KRTAP19-3	337970	broad.mit.edu	37	21	31864178	31864178	+	Missense_Mutation	SNP	C	C	T	rs371263018		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr21:31864178C>T	ENST00000334063.4	-	1	97	c.98G>A	c.(97-99)cGc>cAc	p.R33H		NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	33						intermediate filament (GO:0005882)				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						ACCCAGTCTGCGGAAGCTGCC	0.582																																						ENST00000334063.4	1.000000	0.770000	9.800000e-01	8.300000e-01	0.900000	0.906844	0.900000	1.000000																										0				9						c.(97-99)cGc>cAc		keratin associated protein 19-3		C	HIS/ARG	0,4406		0,0,2203	149.0	155.0	153.0		98	-4.8	0.0	21		153	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRTAP19-3	NM_181609.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	33/82	31864178	1,13005	2203	4300	6503	SO:0001583	missense	337970	11	121412	45				g.chr21:31864178C>T	AP001708	CCDS13596.1	21q22.1	2011-02-10			ENSG00000244025	ENSG00000244025		"""Keratin associated proteins"""	18938	protein-coding gene	gene with protein product						12359730	Standard	NM_181609		Approved	KAP19.3	uc002yog.1	Q7Z4W3	OTTHUMG00000057782	ENST00000334063.4:c.98G>A	chr21.hg19:g.31864178C>T	ENSP00000386376:p.Arg33His	0						p.R33H	NM_181609.3	NP_853640.1	0	1	1	1.903979	Q7Z4W3	KR193_HUMAN		1	97	-				Missense_Mutation	SNP	ENST00000334063.4	1	1	hg19	c.98G>A	CCDS13596.1	1	.	.	.	.	.	.	.	.	.	.	C	9.864	1.197214	0.22037	0.0	1.16E-4	ENSG00000244025	ENST00000334063	T	0.10668	2.85	4.72	-4.85	0.03142	4.72	-4.85	0.03142	.	.	.	.	.	T	0.07324	0.0185	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37033	-0.9723	8	0.87932	D	0	.	6.2846	0.21027	0.0:0.2226:0.3779:0.3996	.	33	Q7Z4W3	KR193_HUMAN	H	33	ENSP00000386376:R33H	ENSP00000386376:R33H	R	-	2	0	0	KRTAP19-3	30786049	30786049	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	-0.462000	0.06704	-1.247000	0.02507	-0.218000	0.12543	CGC	0.209655		TCGA-FB-AAPY-01A-11D-A40W-08	0.582	KRTAP19-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128234.2	1	0	1		2	2	2	0		0	0	185		185	183	1	1.920000	-3.318794	1	0.260000				143	141		990	958	1		1			0	0	185	0		1.000000	0	0	0	0	0	0	143	990
KIF1A	547	broad.mit.edu	37	2	241712602	241712602	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr2:241712602C>T	ENST00000320389.7	-	13	1267	c.1109G>A	c.(1108-1110)cGc>cAc	p.R370H	KIF1A_ENST00000498729.2_Missense_Mutation_p.R370H	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	370					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CTTCAGCTCGCGGATCAGCTT	0.617																																						ENST00000320389.7	1.000000	0.840000	1	9.900000e-01	0.990000	0.987272	0.990000	1.000000																										0				66						c.(1108-1110)cGc>cAc		kinesin family member 1A							81.0	88.0	86.0					2																	241712602		2195	4297	6492	SO:0001583	missense	547	0	0					g.chr2:241712602C>T	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.1109G>A	chr2.hg19:g.241712602C>T	ENSP00000322791:p.Arg370His	0					KIF1A_ENST00000498729.2_Missense_Mutation_p.R370H	p.R370H	NM_004321.6	NP_004312.2	0	1	1	2.014424	Q12756	KIF1A_HUMAN		13	1267	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	1	1	hg19	c.1109G>A	CCDS46561.1	1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.777059	0.90195	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.76186	-0.89;-0.92;-1.0	3.83	3.83	0.44106	3.83	3.83	0.44106	.	0.000000	0.85682	U	0.000000	D	0.90225	0.6944	H	0.95850	3.73	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.999	D	0.93733	0.7043	10	0.87932	D	0	.	15.7385	0.77866	0.0:1.0:0.0:0.0	.	370;370;370	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	H	370	ENSP00000322791:R370H;ENSP00000438388:R370H;ENSP00000384231:R370H	ENSP00000322791:R370H	R	-	2	0	0	KIF1A	241361275	241361275	1.000000	0.71417	0.853000	0.33588	0.956000	0.61745	7.626000	0.83164	1.688000	0.51068	0.491000	0.48974	CGC	0.258071		TCGA-FB-AAPY-01A-11D-A40W-08	0.617	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	1	0	1		2	2	2	0		0	0	44		44	44	1	1.920000	-19.480280	1	0.260000	NM_138483			39	38		219	216	1		1			0	0	44	0		1.000000	0	0	0	0	0	0	39	219
KLF15	28999	broad.mit.edu	37	3	126070729	126070729	+	Missense_Mutation	SNP	G	G	A	rs552047494		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr3:126070729G>A	ENST00000296233.3	-	2	1267	c.1037C>T	c.(1036-1038)aCg>aTg	p.T346M	KLF15_ENST00000509675.1_5'Flank	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	346					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to peptide (GO:1901653)|glial cell differentiation (GO:0010001)|glomerular visceral epithelial cell differentiation (GO:0072112)|glucose transport (GO:0015758)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		CTTCTCACCCGTGTGCCGGCG	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		19251	0.0		0.001	False		,,,				2504	0.0					ENST00000296233.3	0.630000	0.120000	4.700000e-01	2.000000e-01	0.320000	0.343698	0.320000	0.290000																										0				12						c.(1036-1038)aCg>aTg		Kruppel-like factor 15							63.0	67.0	65.0					3																	126070729		2203	4300	6503	SO:0001583	missense	28999	1	121382	31				g.chr3:126070729G>A	AB029254	CCDS3036.1	3q21.3	2013-01-08			ENSG00000163884	ENSG00000163884		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	14536	protein-coding gene	gene with protein product	"""kidney-enriched Kruppel-like factor"""	606465				10982849	Standard	NM_014079		Approved	KKLF	uc011bkk.1	Q9UIH9	OTTHUMG00000162689	ENST00000296233.3:c.1037C>T	chr3.hg19:g.126070729G>A	ENSP00000296233:p.Thr346Met	0					KLF15_ENST00000509675.1_5'Flank	p.T346M	NM_014079.3	NP_054798.1	0	1	1	1.924892	Q9UIH9	KLF15_HUMAN		2	1267	-				Missense_Mutation	SNP	ENST00000296233.3	0	1	hg19	c.1037C>T	CCDS3036.1	0	.	.	.	.	.	.	.	.	.	.	G	23.6	4.439084	0.83885	.	.	ENSG00000163884	ENST00000296233	T	0.26373	1.74	5.37	5.37	0.77165	5.37	5.37	0.77165	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.55878	0.1948	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.60520	-0.7247	10	0.72032	D	0.01	.	16.9708	0.86298	0.0:0.0:1.0:0.0	.	346	Q9UIH9	KLF15_HUMAN	M	346	ENSP00000296233:T346M	ENSP00000296233:T346M	T	-	2	0	0	KLF15	127553419	127553419	1.000000	0.71417	0.991000	0.47740	0.972000	0.66771	9.792000	0.99085	2.688000	0.91661	0.491000	0.48974	ACG	0.221544		TCGA-FB-AAPY-01A-11D-A40W-08	0.592	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370096.1	1	0	1		2	2	2	0		0	0	15		15	14	1	1.920000	-3.397408	1	0.260000	NM_014079			5	6		117	114	0		1	0		0	0	15	0		0.936144	8.744613e-02	0	0	0	10	0	5	117
EIF2B5	8893	broad.mit.edu	37	3	183854501	183854501	+	Silent	SNP	T	T	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr3:183854501T>A	ENST00000273783.3	+	2	419	c.297T>A	c.(295-297)gcT>gcA	p.A99A	EIF2B5_ENST00000432569.1_Silent_p.A99A|RP11-778D9.12_ENST00000608232.1_RNA|RP11-778D9.12_ENST00000608135.1_RNA|EIF2B5_ENST00000498831.1_3'UTR|EIF2B5_ENST00000444495.1_Silent_p.A99A	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	99					astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GCTGGAAAGCTGCTCAAATCA	0.423																																						ENST00000273783.3	0.110000	0.010000	9.000000e-02	3.000000e-02	0.050000	0.063907	0.050000	0.060000																										0				27						c.(295-297)gcT>gcA		eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa							197.0	195.0	196.0					3																	183854501		2203	4300	6503	SO:0001819	synonymous_variant	8893	0	0					g.chr3:183854501T>A	U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"""eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"""			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.297T>A	chr3.hg19:g.183854501T>A		0					EIF2B5_ENST00000498831.1_3'UTR|RP11-778D9.12_ENST00000608232.1_RNA|RP11-778D9.12_ENST00000608135.1_RNA|EIF2B5_ENST00000432569.1_Silent_p.A99A|EIF2B5_ENST00000444495.1_Silent_p.A99A	p.A99A	NM_003907.2	NP_003898.2	0	1	1	1.924892	Q13144	EI2BE_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)	2	419	+	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Q541Z1|Q96D04	Silent	SNP	ENST00000273783.3	0	1	hg19	c.297T>A	CCDS3252.1	0																																																																																								0.221544		TCGA-FB-AAPY-01A-11D-A40W-08	0.423	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1	0	0	1		2	2	2	0		0	0	168		168	167	1	1.920000	-4.899695	1	0.260000				7	7		903	889	0		1	0		0	0	168	0		0.979514	1.276068e-01	0	1	0	68	0	7	903
FLNB	2317	broad.mit.edu	37	3	58120468	58120468	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr3:58120468C>T	ENST00000295956.4	+	27	4805	c.4640C>T	c.(4639-4641)gCc>gTc	p.A1547V	FLNB_ENST00000348383.5_Missense_Mutation_p.A1547V|FLNB_ENST00000358537.3_Missense_Mutation_p.A1547V|FLNB_ENST00000357272.4_Missense_Mutation_p.A1547V|FLNB_ENST00000490882.1_Missense_Mutation_p.A1578V|FLNB_ENST00000429972.2_Missense_Mutation_p.A1547V|FLNB_ENST00000493452.1_Missense_Mutation_p.A1378V|FLNB_ENST00000419752.2_Missense_Mutation_p.A1378V	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1547					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GCCCGAGATGCCGGGGAAGGC	0.483																																						ENST00000295956.4	0.130000	0.020000	1.000000e-01	3.000000e-02	0.060000	0.071047	0.060000	0.060000																										0				120	GRCh37	CM061773	FLNB	M		c.(4639-4641)gCc>gTc		filamin B, beta							158.0	156.0	156.0					3																	58120468		2203	4300	6503	SO:0001583	missense	2317	0	0					g.chr3:58120468C>T	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.4640C>T	chr3.hg19:g.58120468C>T	ENSP00000295956:p.Ala1547Val	0					FLNB_ENST00000493452.1_Missense_Mutation_p.A1378V|FLNB_ENST00000357272.4_Missense_Mutation_p.A1547V|FLNB_ENST00000429972.2_Missense_Mutation_p.A1547V|FLNB_ENST00000490882.1_Missense_Mutation_p.A1578V|FLNB_ENST00000358537.3_Missense_Mutation_p.A1547V|FLNB_ENST00000419752.2_Missense_Mutation_p.A1378V|FLNB_ENST00000348383.5_Missense_Mutation_p.A1547V	p.A1547V	NM_001457.3	NP_001448.2	0	1	1	1.924892	O75369	FLNB_HUMAN		27	4805	+			B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	0	1	hg19	c.4640C>T	CCDS2885.1	0	.	.	.	.	.	.	.	.	.	.	C	35	5.522694	0.96431	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23	5.68	5.68	0.88126	5.68	5.68	0.88126	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.95010	0.8385	M	0.90595	3.13	0.80722	D	1	P;D;P;D;P;P	0.71674	0.832;0.998;0.879;0.977;0.917;0.917	P;D;P;P;P;P	0.77557	0.55;0.99;0.67;0.809;0.863;0.863	D	0.95415	0.8502	10	0.87932	D	0	.	19.7958	0.96481	0.0:1.0:0.0:0.0	.	1547;1578;1378;1378;1547;1547	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	V	1547;1578;1547;1547;1547;1547;1378;1378	ENSP00000295956:A1547V;ENSP00000420213:A1578V;ENSP00000351339:A1547V;ENSP00000415599:A1547V;ENSP00000232447:A1547V;ENSP00000349819:A1547V;ENSP00000418510:A1378V;ENSP00000414532:A1378V	ENSP00000295956:A1547V	A	+	2	0	0	FLNB	58095508	58095508	1.000000	0.71417	0.958000	0.39756	0.982000	0.71751	7.764000	0.85297	2.669000	0.90835	0.563000	0.77884	GCC	0.221544		TCGA-FB-AAPY-01A-11D-A40W-08	0.483	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	0	0	1		2	2	2	0		0	0	127		127	122	1	1.920000	-1.924228	0	0.260000	NM_001457			6	6		709	688	0		1	0		0	0	127	0		0.961540	2.417209e-01	0	0	0	96	0	6	709
TP63	8626	broad.mit.edu	37	3	189582120	189582120	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr3:189582120G>A	ENST00000264731.3	+	5	768	c.679G>A	c.(679-681)Gcc>Acc	p.A227T	TP63_ENST00000392460.3_Missense_Mutation_p.A227T|TP63_ENST00000382063.4_Missense_Mutation_p.A142T|TP63_ENST00000437221.1_Missense_Mutation_p.A133T|TP63_ENST00000418709.2_Missense_Mutation_p.A227T|TP63_ENST00000392463.2_Missense_Mutation_p.A133T|TP63_ENST00000456148.1_Missense_Mutation_p.A133T|TP63_ENST00000449992.1_Missense_Mutation_p.A48T|TP63_ENST00000440651.2_Missense_Mutation_p.A227T|TP63_ENST00000392461.3_Missense_Mutation_p.A133T|TP63_ENST00000354600.5_Missense_Mutation_p.A133T|TP63_ENST00000320472.5_Missense_Mutation_p.A227T	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	227					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TGTTATCCGCGCCATGCCTGT	0.517										HNSCC(45;0.13)																												ENST00000264731.3	0.160000	0.020000	1.200000e-01	4.000000e-02	0.070000	0.086106	0.070000	0.070000																										0				61						c.(679-681)Gcc>Acc		tumor protein p63							123.0	120.0	121.0					3																	189582120		2203	4300	6503	SO:0001583	missense	8626	0	0					g.chr3:189582120G>A	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.679G>A	chr3.hg19:g.189582120G>A	ENSP00000264731:p.Ala227Thr	0	HNSCC(45;0.13)				TP63_ENST00000437221.1_Missense_Mutation_p.A133T|TP63_ENST00000392461.3_Missense_Mutation_p.A133T|TP63_ENST00000440651.2_Missense_Mutation_p.A227T|TP63_ENST00000449992.1_Missense_Mutation_p.A48T|TP63_ENST00000456148.1_Missense_Mutation_p.A133T|TP63_ENST00000382063.4_Missense_Mutation_p.A142T|TP63_ENST00000418709.2_Missense_Mutation_p.A227T|TP63_ENST00000392460.3_Missense_Mutation_p.A227T|TP63_ENST00000320472.5_Missense_Mutation_p.A227T|TP63_ENST00000392463.2_Missense_Mutation_p.A133T|TP63_ENST00000354600.5_Missense_Mutation_p.A133T	p.A227T	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	0	1	1	1.924892	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	5	768	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	0	1	hg19	c.679G>A	CCDS3293.1	0	.	.	.	.	.	.	.	.	.	.	G	29.9	5.046830	0.93740	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	D;D;D;D;D;D;D;D;D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22	5.85	4.97	0.65823	5.85	4.97	0.65823	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99802	0.9915	M	0.75264	2.295	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	0.995;0.999;0.999;0.999;0.999;0.999;1.0;0.995;1.0;0.999	D	0.96749	0.9552	9	.	.	.	-13.4834	14.4917	0.67654	0.0715:0.0:0.9285:0.0	.	48;227;227;133;133;133;133;227;227;227	Q9H3D4-10;Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;.;P63_HUMAN;.	T	227;227;227;227;227;142;133;133;133;133;48;133	ENSP00000264731:A227T;ENSP00000407144:A227T;ENSP00000317510:A227T;ENSP00000376253:A227T;ENSP00000394337:A227T;ENSP00000371495:A142T;ENSP00000346614:A133T;ENSP00000392488:A133T;ENSP00000376256:A133T;ENSP00000376254:A133T;ENSP00000387839:A48T;ENSP00000389485:A133T	.	A	+	1	0	0	TP63	191064814	191064814	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	8.013000	0.88655	2.768000	0.95171	0.655000	0.94253	GCC	0.221544		TCGA-FB-AAPY-01A-11D-A40W-08	0.517	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	0	0	1		2	2	2	0		0	0	80		80	79	1	1.920000	-2.270054	0	0.260000	NM_003722			5	6		499	489	0		1	0		0	0	80	0		0.934826	0	0	0	0	1	0	5	499
PPIP5K2	23262	broad.mit.edu	37	5	102509562	102509562	+	Splice_Site	SNP	G	G	A			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr5:102509562G>A	ENST00000358359.3	+	21	2924	c.2415G>A	c.(2413-2415)gtG>gtA	p.V805V	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Splice_Site_p.V805V|PPIP5K2_ENST00000321521.9_Splice_Site_p.V805V	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	805					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CTAATTTTAGGTATTCTAGAG	0.303																																						ENST00000358359.3	1.000000	0.800000	1	9.500000e-01	0.990000	0.978998	0.990000	1.000000																										0				42						c.(2413-2415)gtG>gtA		diphosphoinositol pentakisphosphate kinase 2							127.0	124.0	125.0					5																	102509562		2202	4299	6501	SO:0001630	splice_region_variant	23262	0	0					g.chr5:102509562G>A	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.2415-1G>A	chr5.hg19:g.102509562G>A		0					PPIP5K2_ENST00000414217.1_Splice_Site_p.V805V|PPIP5K2_ENST00000321521.9_Splice_Site_p.V805V|PPIP5K2_ENST00000513500.1_3'UTR	p.V805V	NM_001276277.1	NP_001263206.1	1	2	3	2.044124	O43314	VIP2_HUMAN		21	2924	+			A1NI53|A6NGS8|Q8TB50	Splice_Site	SNP	ENST00000358359.3	1	0	hg19	c.2415G>A		1																																																																																								0.265727		TCGA-FB-AAPY-01A-11D-A40W-08	0.303	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	1	0	1		2	2	2	0		0	0	29		29	29	1	1.920000	-20.000000	1	0.260000	NM_015216	Silent		36	36		215	212	1		1	0		0	0	29	0		1.000000	4.898907e-01	0	1	0	10	0	36	215
PCSK1	5122	broad.mit.edu	37	5	95757592	95757592	+	Silent	SNP	G	G	A	rs6231	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr5:95757592G>A	ENST00000311106.3	-	5	849	c.612C>T	c.(610-612)aaC>aaT	p.N204N	PCSK1_ENST00000508626.1_Silent_p.N157N|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	204	Peptidase S8.				cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	ACTTGTTCTCGTTTGTGGGAT	0.333													G|||	268	0.0535144	0.1747	0.0173	5008	,	,		18913	0.0139		0.006	False		,,,				2504	0.0051					ENST00000311106.3	1.000000	0.730000	1	8.100000e-01	0.900000	0.904831	0.900000	1.000000																										0				36						c.(610-612)aaC>aaT		proprotein convertase subtilisin/kexin type 1	"""Insulin(DB00071)|Insulin Regular(DB00030)"	G	,	559,3847	250.9+/-257.8	34,491,1678	152.0	151.0	151.0		612,471	3.5	1.0	5	dbSNP_52	151	40,8560	26.8+/-75.7	0,40,4260	no	coding-synonymous,coding-synonymous	PCSK1	NM_000439.4,NM_001177875.1	,	34,531,5938	AA,AG,GG		0.4651,12.6872,4.6056	,	204/754,157/707	95757592	599,12407	2203	4300	6503	SO:0001819	synonymous_variant	5122	2126	121412	68				g.chr5:95757592G>A		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"""prohormone convertase 3"", ""prohormone convertase 1"", ""neuroendocrine convertase 1"", ""proprotein convertase 1"""	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.612C>T	chr5.hg19:g.95757592G>A		0					PCSK1_ENST00000508626.1_Silent_p.N157N|CTD-2337A12.1_ENST00000502645.2_RNA	p.N204N	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	1	2	3	2.044124	P29120	NEC1_HUMAN		5	849	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	B7Z8T7|E9PHA1|P78478|Q92532	Silent	SNP	ENST00000311106.3	1	0	hg19	c.612C>T	CCDS4081.1	1																																																																																								0.265727		TCGA-FB-AAPY-01A-11D-A40W-08	0.333	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	0	0	1		2	2	2	0		0	0	178		178	177	1	1.920000	-10.387400	1	0.260000	NM_000439			85	80		644	612	1		1	0		0	0	178	0		1.000000	1.955121e-01	0	0	0	7	0	85	644
PCDHA2	56146	broad.mit.edu	37	5	140176342	140176342	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr5:140176342A>G	ENST00000526136.1	+	1	1793	c.1793A>G	c.(1792-1794)gAc>gGc	p.D598G	PCDHA2_ENST00000378132.1_Missense_Mutation_p.D598G|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.D598G	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	598	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCAGTGGACGCTGACTCA	0.662																																						ENST00000526136.1	1.000000	0.780000	1	8.900000e-01	0.990000	0.960066	0.990000	1.000000																										0				71						c.(1792-1794)gAc>gGc		protocadherin alpha 2							160.0	144.0	149.0					5																	140176342		2203	4300	6503	SO:0001583	missense	56146	0	0					g.chr5:140176342A>G	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1793A>G	chr5.hg19:g.140176342A>G	ENSP00000431748:p.Asp598Gly	0					PCDHA2_ENST00000520672.2_Missense_Mutation_p.D598G|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.D598G|PCDHA1_ENST00000394633.3_Intron	p.D598G	NM_018905.2	NP_061728.1	1	2	3	2.044124	Q9Y5H9	PCDA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	1793	+			O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	1	1	hg19	c.1793A>G	CCDS54914.1	1	.	.	.	.	.	.	.	.	.	.	a	14.62	2.588873	0.46110	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.61627	0.09;0.09;0.09	3.91	3.91	0.45181	3.91	3.91	0.45181	Cadherin (4);Cadherin-like (1);	0.000000	0.41194	U	0.000923	D	0.84433	0.5471	H	0.99261	4.49	0.46222	D	0.998935	D;D;D	0.62365	0.967;0.991;0.967	P;D;D	0.68039	0.799;0.923;0.955	D	0.90120	0.4198	10	0.87932	D	0	.	12.7909	0.57533	1.0:0.0:0.0:0.0	.	598;598;598	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	G	598	ENSP00000430584:D598G;ENSP00000367372:D598G;ENSP00000431748:D598G	ENSP00000367372:D598G	D	+	2	0	0	PCDHA2	140156526	140156526	1.000000	0.71417	0.959000	0.39883	0.110000	0.19582	8.674000	0.91191	1.563000	0.49615	0.449000	0.29647	GAC	0.265727		TCGA-FB-AAPY-01A-11D-A40W-08	0.662	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	1	0	1		2	2	2	0		0	0	90		90	89	1	1.920000	-20.000000	1	0.260000	NM_018905			58	55		388	382	1		1			0	0	90	0		1.000000	0	0	0	0	0	0	58	388
MAK	4117	broad.mit.edu	37	6	10764813	10764813	+	Missense_Mutation	SNP	G	G	A	rs199594233		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr6:10764813G>A	ENST00000313243.2	-	14	2126	c.1744C>T	c.(1744-1746)Cgg>Tgg	p.R582W	SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000354489.2_Missense_Mutation_p.R582W|MAK_ENST00000538030.1_3'UTR|MAK_ENST00000474039.1_Missense_Mutation_p.R582W|RP11-637O19.3_ENST00000480294.1_Intron			P20794	MAK_HUMAN	male germ cell-associated kinase	582					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|photoreceptor cell maintenance (GO:0045494)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|transcription coactivator activity (GO:0003713)	p.R582R(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				AACTGCCCCCGACCAGTTTTT	0.398													G|||	1	0.000199681	0.0	0.0	5008	,	,		18592	0.0		0.001	False		,,,				2504	0.0					ENST00000313243.2	1.000000	0.860000	1	9.500000e-01	0.990000	0.982986	0.990000	1.000000																										1	Substitution - coding silent(1)	p.R582R(1)	lung(1)	22						c.(1744-1746)Cgg>Tgg		male germ cell-associated kinase							88.0	90.0	89.0					6																	10764813		2203	4300	6503	SO:0001583	missense	4117	17	121408	46				g.chr6:10764813G>A		CCDS4516.1, CCDS75398.1, CCDS75399.1	6p24.2	2014-01-28			ENSG00000111837	ENSG00000111837			6816	protein-coding gene	gene with protein product		154235				16951154	Standard	NM_005906		Approved	dJ417M14.2, RP62	uc021ylk.1	P20794	OTTHUMG00000014247	ENST00000313243.2:c.1744C>T	chr6.hg19:g.10764813G>A	ENSP00000313021:p.Arg582Trp	0					MAK_ENST00000538030.1_3'UTR|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000474039.1_Missense_Mutation_p.R582W|MAK_ENST00000354489.2_Missense_Mutation_p.R582W|RP11-637O19.3_ENST00000480294.1_Intron	p.R582W			0	1	1	1.907629	P20794	MAK_HUMAN		14	2126	-	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)	F1T0K6|G1FL29|Q547D0|Q9NUH7	Missense_Mutation	SNP	ENST00000313243.2	1	1	hg19	c.1744C>T	CCDS4516.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	25.7	4.660715	0.88154	.	.	ENSG00000111837	ENST00000313243;ENST00000354489	T;T	0.74002	-0.8;-0.8	5.66	5.66	0.87406	5.66	5.66	0.87406	.	0.265585	0.36932	N	0.002337	D	0.83704	0.5312	M	0.77103	2.36	0.80722	D	1	D	0.76494	0.999	P	0.62382	0.901	D	0.85294	0.1069	10	0.87932	D	0	.	19.3453	0.94361	0.0:0.0:1.0:0.0	.	582	P20794	MAK_HUMAN	W	582	ENSP00000313021:R582W;ENSP00000346484:R582W	ENSP00000313021:R582W	R	-	1	2	2	MAK	10872799	10872799	1.000000	0.71417	0.963000	0.40424	0.994000	0.84299	6.187000	0.72039	2.648000	0.89879	0.655000	0.94253	CGG	0.220478		TCGA-FB-AAPY-01A-11D-A40W-08	0.398	MAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039841.1	1	0	1		2	2	2	0		0	0	152		152	147	1	1.920000	-3.075884	1	0.260000	NM_005906			87	86		512	505	0		1	0		0	0	152	0		1.000000	0	0	0	0	1	0	87	512
CDYL	9425	broad.mit.edu	37	6	4892101	4892101	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr6:4892101C>T	ENST00000328908.5	+	4	472	c.341C>T	c.(340-342)aCg>aTg	p.T114M	CDYL_ENST00000472453.1_Intron|CDYL_ENST00000397588.3_Missense_Mutation_p.T60M|CDYL_ENST00000449732.2_5'UTR|CDYL_ENST00000343762.5_5'UTR			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	114	Chromo. {ECO:0000255|PROSITE- ProRule:PRU00053}.|Interaction with EZH2.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		AGACGCCACACGGAGAAGCAG	0.507																																						ENST00000328908.5	0.300000	0.050000	2.200000e-01	9.000000e-02	0.140000	0.163121	0.140000	0.140000																										0				30						c.(340-342)aCg>aTg		chromodomain protein, Y-like							149.0	146.0	147.0					6																	4892101		2203	4300	6503	SO:0001583	missense	9425	1	121412	35				g.chr6:4892101C>T	AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"""CDY-like, autosomal"", ""testis-specific chromodomain Y-like protein"""	603778	"""chromodomain protein, Y chromosome-like"""			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.341C>T	chr6.hg19:g.4892101C>T	ENSP00000330512:p.Thr114Met	0					CDYL_ENST00000343762.5_5'UTR|CDYL_ENST00000449732.2_5'UTR|CDYL_ENST00000472453.1_Intron|CDYL_ENST00000397588.3_Missense_Mutation_p.T60M	p.T114M			0	1	1	1.907629	Q9Y232	CDYL1_HUMAN		4	472	+	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)	A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Missense_Mutation	SNP	ENST00000328908.5	0	1	hg19	c.341C>T		0	.	.	.	.	.	.	.	.	.	.	C	8.820	0.937390	0.18206	.	.	ENSG00000153046	ENST00000328908;ENST00000397588	T;T	0.55930	0.97;0.49	5.79	1.46	0.22682	5.79	1.46	0.22682	Chromo domain-like (1);Chromo domain/shadow (2);	0.437153	0.26029	N	0.026769	T	0.19127	0.0459	L	0.57536	1.79	0.09310	N	0.999993	B;B	0.27140	0.037;0.169	B;B	0.20577	0.025;0.03	T	0.13176	-1.0519	10	0.28530	T	0.3	.	2.7961	0.05401	0.3942:0.3057:0.2149:0.0852	.	60;114	Q9Y232-2;Q9Y232	.;CDYL1_HUMAN	M	114;60	ENSP00000330512:T114M;ENSP00000380718:T60M	ENSP00000330512:T114M	T	+	2	0	0	CDYL	4837100	4837100	0.057000	0.20700	0.224000	0.23877	0.400000	0.30750	0.442000	0.21628	0.327000	0.23409	0.650000	0.86243	ACG	0.220478		TCGA-FB-AAPY-01A-11D-A40W-08	0.507	CDYL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000039736.1	0	0	1		2	2	2	0		0	0	50		50	48	1	1.920000	-3.014201	1	0.260000	NM_004824			5	5		258	254	0		1	0		0	0	50	0		0.934947	4.257413e-02	0	0	0	14	0	5	258
XPO5	57510	broad.mit.edu	37	6	43540277	43540277	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr6:43540277T>C	ENST00000265351.7	-	3	476	c.266A>G	c.(265-267)tAt>tGt	p.Y89C		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	89	Necessary for interaction with Ran.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			GTTCTTCAGATACACCTTCTC	0.423																																						ENST00000265351.7	0.310000	0.070000	2.400000e-01	1.100000e-01	0.170000	0.183736	0.170000	0.170000																										0				34						c.(265-267)tAt>tGt		exportin 5							205.0	192.0	196.0					6																	43540277		1978	4169	6147	SO:0001583	missense	57510	0	0					g.chr6:43540277T>C	AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.266A>G	chr6.hg19:g.43540277T>C	ENSP00000265351:p.Tyr89Cys	1						p.Y89C	NM_020750.2	NP_065801.1	0	1	1	1.899097	Q9HAV4	XPO5_HUMAN	all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)	3	476	-	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Missense_Mutation	SNP	ENST00000265351.7	0	1	hg19	c.266A>G	CCDS47430.1	0	.	.	.	.	.	.	.	.	.	.	T	13.05	2.122120	0.37436	.	.	ENSG00000124571	ENST00000265351	T	0.67523	-0.27	4.88	0.572	0.17357	4.88	0.572	0.17357	Armadillo-like helical (1);Armadillo-type fold (1);Importin-beta, N-terminal (1);	0.296130	0.34411	N	0.003997	T	0.27169	0.0666	N	0.20986	0.625	0.47374	D	0.999402	B	0.02656	0.0	B	0.01281	0.0	T	0.07309	-1.0779	10	0.39692	T	0.17	-8.5042	5.3596	0.16081	0.3917:0.0735:0.0:0.5348	.	89	Q9HAV4	XPO5_HUMAN	C	89	ENSP00000265351:Y89C	ENSP00000265351:Y89C	Y	-	2	0	0	XPO5	43648255	43648255	0.998000	0.40836	0.987000	0.45799	0.975000	0.68041	2.130000	0.42064	0.258000	0.21686	-0.336000	0.08194	TAT	0.211844		TCGA-FB-AAPY-01A-11D-A40W-08	0.423	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2	0	0	1		2	2	2	0		0	0	71		71	70	1	1.920000	-8.442419	1	0.260000	NM_020750			8	8		340	337	0		1	0		0	0	71	0		0.989196	1.810591e-02	0	0	0	8	0	8	340
PARP12	64761	broad.mit.edu	37	7	139756817	139756817	+	Missense_Mutation	SNP	T	T	A	rs539142185		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr7:139756817T>A	ENST00000263549.3	-	3	1472	c.599A>T	c.(598-600)gAt>gTt	p.D200V		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	200						nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					ATTAGAGAAATCATGGGATCT	0.438																																						ENST00000263549.3	1.000000	0.800000	1	9.000000e-01	0.990000	0.964149	0.990000	1.000000																										0				19						c.(598-600)gAt>gTt		poly (ADP-ribose) polymerase family, member 12							92.0	98.0	96.0					7																	139756817		2203	4300	6503	SO:0001583	missense	64761	0	0					g.chr7:139756817T>A	AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	21919	protein-coding gene	gene with protein product		612481	"""zinc finger CCCH-type domain containing 1"""	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.599A>T	chr7.hg19:g.139756817T>A	ENSP00000263549:p.Asp200Val	0						p.D200V	NM_022750.2	NP_073587.1	1	2	3	2.052201	Q9H0J9	PAR12_HUMAN		3	1472	-	Melanoma(164;0.0142)		Q9H610|Q9NP36|Q9NTI3	Missense_Mutation	SNP	ENST00000263549.3	1	1	hg19	c.599A>T	CCDS5857.1	1	.	.	.	.	.	.	.	.	.	.	T	13.07	2.127084	0.37533	.	.	ENSG00000059378	ENST00000263549	T	0.40756	1.02	5.31	2.88	0.33553	5.31	2.88	0.33553	Zinc finger, CCCH-type (3);	0.829138	0.11297	N	0.578676	T	0.41558	0.1164	M	0.69358	2.11	0.22581	N	0.998967	B	0.14438	0.01	B	0.19946	0.027	T	0.41484	-0.9506	10	0.72032	D	0.01	.	7.4741	0.27365	0.1274:0.0701:0.0:0.8025	.	200	Q9H0J9	PAR12_HUMAN	V	200	ENSP00000263549:D200V	ENSP00000263549:D200V	D	-	2	0	0	PARP12	139403286	139403286	0.998000	0.40836	0.644000	0.29465	0.955000	0.61496	2.199000	0.42715	0.393000	0.25203	0.445000	0.29226	GAT	0.267617		TCGA-FB-AAPY-01A-11D-A40W-08	0.438	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	1	0	1		2	2	2	0		0	0	94		94	93	1	1.920000	-20.000000	1	0.260000	NM_022750			71	71		477	476	1		1	1		0	0	94	0		1.000000	6.983821e-01	0	3	0	15	0	71	477
DMRT3	58524	broad.mit.edu	37	9	990483	990483	+	Silent	SNP	C	C	T	rs145231691	byFrequency	TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chr9:990483C>T	ENST00000190165.2	+	2	935	c.897C>T	c.(895-897)tcC>tcT	p.S299S		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	299					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		AGCGAACTTCCGCAGAACCTG	0.577													C|||	5	0.000998403	0.003	0.0014	5008	,	,		17312	0.0		0.0	False		,,,				2504	0.0					ENST00000190165.2	1.000000	0.860000	1	9.200000e-01	0.960000	0.964234	0.960000	0.990000																										0				26						c.(895-897)tcC>tcT		doublesex and mab-3 related transcription factor 3		C		26,4380	32.6+/-62.9	0,26,2177	111.0	98.0	103.0		897	-8.9	0.0	9	dbSNP_134	103	0,8600		0,0,4300	no	coding-synonymous	DMRT3	NM_021240.2		0,26,6477	TT,TC,CC		0.0,0.5901,0.1999		299/473	990483	26,12980	2203	4300	6503	SO:0001819	synonymous_variant	58524	60	121412	51				g.chr9:990483C>T	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"""testis-specific protein"""	614754	"""DMRT-like family A3"""	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.897C>T	chr9.hg19:g.990483C>T		1						p.S299S	NM_021240.2	NP_067063.1	0	1	1	1.766215	Q9NQL9	DMRT3_HUMAN		2	935	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Silent	SNP	ENST00000190165.2	1	1	hg19	c.897C>T	CCDS6443.1	1																																																																																								0.149425		TCGA-FB-AAPY-01A-11D-A40W-08	0.577	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	1	0	1		2	2	2	0		0	0	44		44	40	1	1.920000	-2.948555	1	0.260000	NM_021240			65	64		255	251	1		1			0	0	44	0		1.000000	0	0	0	0	0	0	65	255
KDM6A	7403	broad.mit.edu	37	X	44833922	44833922	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chrX:44833922T>C	ENST00000377967.4	+	4	387	c.346T>C	c.(346-348)Tac>Cac	p.Y116H	KDM6A_ENST00000536777.1_Missense_Mutation_p.Y116H|KDM6A_ENST00000382899.4_Missense_Mutation_p.Y116H|KDM6A_ENST00000543216.1_Missense_Mutation_p.Y116H	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	116	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0(14)|p.0?(6)|p.?(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ATTATCTGCATACCAGAGGTA	0.348			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4	0.160000	0.020000	1.100000e-01	4.000000e-02	0.070000	0.080490	0.070000	0.070000				Rec	yes			Rec	yes		X	Xp11.2	Xp11.2	7403	D, N, F, S	"""lysine (K)-specific demethylase 6A, UTX"""				"""E, L"""	E, L			renal, oesophageal SCC, MM		21	No detectable mRNA/protein(14)|Whole gene deletion(6)|Unknown(1)	p.0(14)|p.0?(6)|p.?(1)	haematopoietic_and_lymphoid_tissue(13)|oesophagus(4)|breast(2)|pancreas(2)	170						c.(346-348)Tac>Cac		lysine (K)-specific demethylase 6A							206.0	164.0	178.0					X																	44833922		2203	4300	6503	SO:0001583	missense	7403	0	0					g.chrX:44833922T>C	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.346T>C	chrX.hg19:g.44833922T>C	ENSP00000367203:p.Tyr116His						KDM6A_ENST00000536777.1_Missense_Mutation_p.Y116H|KDM6A_ENST00000382899.4_Missense_Mutation_p.Y116H|KDM6A_ENST00000543216.1_Missense_Mutation_p.Y116H	p.Y116H	NM_021140.2	NP_066963.2	0	1	1		O15550	KDM6A_HUMAN		4	387	+			Q52LL9|Q5JVQ7	Missense_Mutation	SNP	ENST00000377967.4	0	1	hg19	c.346T>C	CCDS14265.1	0	.	.	.	.	.	.	.	.	.	.	T	18.32	3.597277	0.66332	.	.	ENSG00000147050	ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000542299	T;T;T;T	0.76709	2.23;2.23;-1.04;2.23	4.75	4.75	0.60458	4.75	4.75	0.60458	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.116882	0.64402	D	0.000012	D	0.87402	0.6168	M	0.82823	2.61	0.51233	D	0.999919	D;D;D;D;D	0.76494	0.997;0.998;0.999;0.995;0.997	D;D;D;D;D	0.79784	0.991;0.983;0.993;0.969;0.961	D	0.88806	0.3288	10	0.87932	D	0	-7.0249	10.9422	0.47281	0.0:0.0:0.0:1.0	.	116;116;116;116;116	F8W8R6;F5H6S1;B7ZKN5;B4E253;O15550	.;.;.;.;KDM6A_HUMAN	H	116	ENSP00000367203:Y116H;ENSP00000437405:Y116H;ENSP00000372355:Y116H;ENSP00000443078:Y116H	ENSP00000367203:Y116H	Y	+	1	0	0	KDM6A	44718866	44718866	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.968000	0.70413	1.853000	0.53794	0.441000	0.28932	TAC	0.260000		TCGA-FB-AAPY-01A-11D-A40W-08	0.348	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	0	0	1		2	2	2	0		0	0	41		41	41	1	1.920000	-5.974334	1	0.260000	NM_021140			4	4		230	230	0		1	0	0	0	0	41	4		0.891132	5.055988e-03	5.055988e-03	0	0	5	5	4	230
FAM104B	90736	broad.mit.edu	37	X	55172659	55172659	+	Missense_Mutation	SNP	A	A	G	rs5018687		TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chrX:55172659A>G	ENST00000358460.4	-	3	359	c.206T>C	c.(205-207)aTt>aCt	p.I69T	FAM104B_ENST00000425133.2_Missense_Mutation_p.I70T|FAM104B_ENST00000478918.1_5'Flank|FAM104B_ENST00000332132.4_Missense_Mutation_p.I70T|FAM104B_ENST00000477847.2_Missense_Mutation_p.I66T|FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000489298.1_Missense_Mutation_p.I68T			Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B	69								p.I70T(2)		endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						TTCAGTAACAATCTGGTTTAA	0.458																																						ENST00000358460.4	0.160000	0.030000	1.200000e-01	5.000000e-02	0.080000	0.089472	0.080000	0.080000																										2	Substitution - Missense(2)	p.I70T(2)	endometrium(2)	8						c.(205-207)aTt>aCt		family with sequence similarity 104, member B							141.0	113.0	123.0					X																	55172659		2203	4300	6503	SO:0001583	missense	90736	0	0					g.chrX:55172659A>G	BC000919	CCDS35305.1, CCDS35305.2, CCDS55422.1, CCDS55423.1, CCDS55424.1, CCDS55425.1, CCDS55426.1	Xp11.22	2008-02-05	2006-05-16	2006-05-16	ENSG00000182518	ENSG00000182518			25085	protein-coding gene	gene with protein product			"""chromosome X open reading frame 44"""	CXorf44		12477932	Standard	NM_138362		Approved	FLJ20434	uc004dug.2	Q5XKR9	OTTHUMG00000021646	ENST00000358460.4:c.206T>C	chrX.hg19:g.55172659A>G	ENSP00000364101:p.Ile69Thr						FAM104B_ENST00000478918.1_5'Flank|FAM104B_ENST00000477847.2_Missense_Mutation_p.I66T|FAM104B_ENST00000332132.4_Missense_Mutation_p.I70T|FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000489298.1_Missense_Mutation_p.I68T|FAM104B_ENST00000425133.2_Missense_Mutation_p.I70T	p.I69T			0	1	1		Q5XKR9	F104B_HUMAN		3	359	-			A6NEH1|B4DSV6|D6R9S5|D6RDJ5|E9PH40|Q8WVU5|Q9BRA1	Missense_Mutation	SNP	ENST00000358460.4	0	1	hg19	c.206T>C	CCDS35305.2	0	.	.	.	.	.	.	.	.	.	.	a	7.632	0.678969	0.14841	.	.	ENSG00000182518	ENST00000358460;ENST00000332132;ENST00000425133;ENST00000477847;ENST00000489298	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	1.6	-0.877	0.10621	1.6	-0.877	0.10621	.	0.273281	0.24341	N	0.039374	T	0.34424	0.0897	N	0.20685	0.6	0.09310	N	1	B;B;B	0.33000	0.007;0.393;0.393	B;P;B	0.51701	0.003;0.677;0.291	T	0.41215	-0.9521	10	0.21014	T	0.42	-1.7781	4.1887	0.10411	0.5262:0.0:0.4738:0.0	rs5018687;rs5018687	70;69;70	Q5XKR9-3;Q5XKR9;Q5XKR9-2	.;F104B_HUMAN;.	T	69;70;70;66;68	ENSP00000364101:I69T;ENSP00000333394:I70T;ENSP00000397188:I70T;ENSP00000421161:I66T;ENSP00000423164:I68T	ENSP00000333394:I70T	I	-	2	0	0	FAM104B	55189384	55189384	0.000000	0.05858	0.000000	0.03702	0.238000	0.25445	-0.374000	0.07484	-0.346000	0.08312	0.356000	0.21956	ATT	0.260000		TCGA-FB-AAPY-01A-11D-A40W-08	0.458	FAM104B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056851.1	0	0	1		17	2	2	0		0	1	55		55	58	1	1.920000	-2.129250	0	0.260000	NM_138362			6	5		290	283	0		0	0		0	0	55	0		0.012911	5.848170e-01	0	0	0	89	0	6	290
AFF2	2334	broad.mit.edu	37	X	148072839	148072839	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPY-01A-11D-A40W-08	TCGA-FB-AAPY-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5708a05-d6ea-45e7-95b3-396cb55160cb	1df543cd-3c9f-4509-bcee-0ce063aa435c	g.chrX:148072839C>T	ENST00000370460.2	+	21	4392	c.3913C>T	c.(3913-3915)Cgc>Tgc	p.R1305C	AFF2_ENST00000286437.5_Missense_Mutation_p.R946C|AFF2_ENST00000370457.5_Missense_Mutation_p.R1270C|AFF2_ENST00000342251.3_Missense_Mutation_p.R1272C	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1305					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GTGTTGGCTGCGCATCGATGC	0.542																																						ENST00000370460.2	0.990000	0.750000	9.600000e-01	8.200000e-01	0.890000	0.892045	0.890000	0.900000																										0				109						c.(3913-3915)Cgc>Tgc		AF4/FMR2 family, member 2							243.0	163.0	190.0					X																	148072839		2203	4300	6503	SO:0001583	missense	2334	1	121404	31				g.chrX:148072839C>T	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3913C>T	chrX.hg19:g.148072839C>T	ENSP00000359489:p.Arg1305Cys						AFF2_ENST00000370457.5_Missense_Mutation_p.R1270C|AFF2_ENST00000342251.3_Missense_Mutation_p.R1272C|AFF2_ENST00000286437.5_Missense_Mutation_p.R946C	p.R1305C	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	0	1	1		P51816	AFF2_HUMAN		21	4392	+	Acute lymphoblastic leukemia(192;6.56e-05)		A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	1	1	hg19	c.3913C>T	CCDS14684.1	1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676515	0.88445	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52	5.46	5.46	0.80206	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.85890	0.5802	M	0.82193	2.58	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.85130	0.997;0.995;0.995;0.979;0.979;0.988	D	0.88026	0.2772	10	0.87932	D	0	.	18.3752	0.90433	0.0:1.0:0.0:0.0	.	946;1270;1270;1266;1295;1305	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	C	1305;1270;1272;946	ENSP00000359489:R1305C;ENSP00000359486:R1270C;ENSP00000345459:R1272C;ENSP00000286437:R946C	ENSP00000286437:R946C	R	+	1	0	0	AFF2	147880545	147880545	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.696000	0.84270	2.279000	0.76181	0.594000	0.82650	CGC	0.260000		TCGA-FB-AAPY-01A-11D-A40W-08	0.542	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	1	0	1		2	2	2	0		0	0	82		82	82	1	1.920000	-20.000000	1	0.260000	NM_002025			112	112		362	360	1		1			0	0	82	0		1.000000	0	0	0	0	0	0	112	362
