#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_ACHILLES_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
AGRN	375790	broad.mit.edu	37	1	984830	984830	+	Splice_Site	SNP	G	G	A	rs372918766		TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr1:984830G>A	ENST00000379370.2	+	25	4563	c.4513G>A	c.(4513-4515)Gtg>Atg	p.V1505M		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1505	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)	p.V1505M(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CCAGGCTGCCGTGTGAGTCCC	0.677																																							uc001ack.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|breast(1)	3						c.(4513-4515)GTG>ATG		agrin precursor		G	MET/VAL	1,4403	2.1+/-5.4	0,1,2201	51.0	59.0	56.0		4513	2.2	0.4	1		56	0,8600		0,0,4300	no	missense-near-splice	AGRN	NM_198576.3	21	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign	1505/2046	984830	1,13003	2202	4300	6502	SO:0001630	splice_region_variant	375790				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:984830G>A	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.4514+1G>A	1.37:g.984830G>A							p.V1505M	NM_198576	NP_940978	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	25	4563	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	1505			Laminin G-like 1.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	37	c.4513G>A	CCDS30551.1	.	.	.	.	.	.	.	.	.	.	g	6.374	0.437179	0.12104	2.27E-4	0.0	ENSG00000188157	ENST00000379370	T	0.76448	-1.02	4.17	2.23	0.28157	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.707453	0.11278	N	0.580626	T	0.72399	0.3455	M	0.72118	2.19	0.35041	D	0.7597	B	0.32071	0.355	B	0.25884	0.064	T	0.68746	-0.5327	10	0.31617	T	0.26	-4.6219	9.3045	0.37867	0.1859:0.0:0.8141:0.0	.	1505	O00468	AGRIN_HUMAN	M	1505	ENSP00000368678:V1505M	ENSP00000368678:V1505M	V	+	1	0	AGRN	974693	0.945000	0.32115	0.424000	0.26647	0.011000	0.07611	1.906000	0.39887	0.326000	0.23384	0.282000	0.19409	GTG		0.677	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576	Missense_Mutation	6	19	0	0	0	0.02938	0	6	19				
AGO1	26523	broad.mit.edu	37	1	36383924	36383924	+	Splice_Site	SNP	T	T	C			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr1:36383924T>C	ENST00000373204.4	+	17	2378	c.2165T>C	c.(2164-2166)aTt>aCt	p.I722T	AGO1_ENST00000373206.1_Splice_Site_p.I647T	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	722	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.I722T(1)									TCTATACAGATTGGGAAGAGT	0.502																																							uc001bzl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2164-2166)ATT>ACT		eukaryotic translation initiation factor 2C, 1							289.0	269.0	276.0					1																	36383924		2203	4300	6503	SO:0001630	splice_region_variant	26523				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	protein binding|RNA binding	g.chr1:36383924T>C	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.2164-1T>C	1.37:g.36383924T>C						EIF2C1_uc001bzk.2_Missense_Mutation_p.I647T|EIF2C1_uc009vuy.2_RNA	p.I722T	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN			17	2378	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	722			Piwi.		Q5TA57|Q6P4S0	Missense_Mutation	SNP	ENST00000373204.4	37	c.2165T>C	CCDS398.1	.	.	.	.	.	.	.	.	.	.	T	9.740	1.164693	0.21538	.	.	ENSG00000092847	ENST00000373206;ENST00000373204	T;T	0.08896	3.05;3.04	5.19	5.19	0.71726	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.050276	0.85682	D	0.000000	T	0.06781	0.0173	N	0.25144	0.715	0.80722	D	1	B	0.22541	0.071	B	0.26310	0.068	T	0.23868	-1.0176	10	0.08837	T	0.75	-7.8464	15.3598	0.74464	0.0:0.0:0.0:1.0	.	722	Q9UL18	AGO1_HUMAN	T	647;722	ENSP00000362302:I647T;ENSP00000362300:I722T	ENSP00000362300:I722T	I	+	2	0	EIF2C1	36156511	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	2.089000	0.63090	0.533000	0.62120	ATT		0.502	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3		Missense_Mutation	39	175	0	0	0	0.092188	0	39	175				
MANEAL	149175	broad.mit.edu	37	1	38260316	38260316	+	Silent	SNP	C	C	G			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr1:38260316C>G	ENST00000373045.6	+	1	843	c.462C>G	c.(460-462)tcC>tcG	p.S154S	MANEAL_ENST00000329006.5_5'Flank|MANEAL_ENST00000397631.3_Silent_p.S154S|MANEAL_ENST00000525897.1_5'Flank	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	154						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)	p.S154S(1)		endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ACTTGGGCTCCAGCTTCTACC	0.677																																							uc001cby.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(460-462)TCC>TCG		mannosidase, endo-alpha-like isoform 3							9.0	12.0	11.0					1																	38260316		1662	3772	5434	SO:0001819	synonymous_variant	149175					Golgi membrane|integral to membrane	hydrolase activity	g.chr1:38260316C>G	AK055996	CCDS426.1, CCDS44110.1, CCDS44111.1	1p34.3	2008-02-05			ENSG00000185090	ENSG00000185090			26452	protein-coding gene	gene with protein product							Standard	NM_152496		Approved	FLJ31434	uc001cby.2	Q5VSG8	OTTHUMG00000004317	ENST00000373045.6:c.462C>G	1.37:g.38260316C>G						MANEAL_uc001cbx.2_Silent_p.S154S|MANEAL_uc001cbz.2_5'Flank	p.S154S	NM_001113482	NP_001106954	Q5VSG8	MANEL_HUMAN			1	543	+	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	154			Lumenal (Potential).		Q6DD86|Q6P497|Q8N5P8|Q96G55|Q96N42	Silent	SNP	ENST00000373045.6	37	c.462C>G	CCDS44110.1																																																																																				0.677	MANEAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012469.2	NM_152496		3	20	0	0	0	0.115264	0	3	20				
INADL	10207	broad.mit.edu	37	1	62455859	62455859	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr1:62455859T>A	ENST00000371158.2	+	28	3804	c.3690T>A	c.(3688-3690)taT>taA	p.Y1230*	INADL_ENST00000543708.1_Nonsense_Mutation_p.Y14*|INADL_ENST00000545929.1_5'UTR|INADL_ENST00000316485.6_Nonsense_Mutation_p.Y1230*	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1230					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.Y1230*(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GACAAAGATATGCAGATCTGC	0.353																																							uc001dab.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(1)	4						c.(3688-3690)TAT>TAA		InaD-like							51.0	48.0	49.0					1																	62455859		2203	4300	6503	SO:0001587	stop_gained	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62455859T>A	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.3690T>A	1.37:g.62455859T>A	ENSP00000360200:p.Tyr1230*					INADL_uc009waf.1_Nonsense_Mutation_p.Y1230*|INADL_uc001daa.2_Nonsense_Mutation_p.Y1230*|INADL_uc001dad.3_Nonsense_Mutation_p.Y927*|INADL_uc001dac.2_RNA|INADL_uc010oot.1_Nonsense_Mutation_p.Y14*|INADL_uc009wag.2_Nonsense_Mutation_p.Y14*|INADL_uc010oou.1_5'UTR	p.Y1230*	NM_176877	NP_795352	Q8NI35	INADL_HUMAN			28	3804	+			1230					O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Nonsense_Mutation	SNP	ENST00000371158.2	37	c.3690T>A	CCDS617.2	.	.	.	.	.	.	.	.	.	.	T	42	9.773680	0.99260	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000307297;ENST00000543708	.	.	.	5.63	4.51	0.55191	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7011	0.51571	0.0:0.069:0.0:0.931	.	.	.	.	X	1230;1230;1230;1230;14;14	.	ENSP00000307496:Y14X	Y	+	3	2	INADL	62228447	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.096000	0.30976	0.969000	0.38237	-0.254000	0.11334	TAT		0.353	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		17	28	0	0	0	0.0333	0	17	28				
PDE4DIP	9659	broad.mit.edu	37	1	144918885	144918885	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr1:144918885T>C	ENST00000369354.3	-	10	1490	c.1301A>G	c.(1300-1302)cAa>cGa	p.Q434R	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q571R|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q434R|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.Q434R|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q500R|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.Q434R|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.Q571R|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.Q597R|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.Q597R|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.Q221R			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	434					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.Q434R(2)|p.Q597R(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTGGATGTTTTGTTCCTGGGT	0.438			T	PDGFRB	MPD																																		uc001elw.3		NA		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		3	Substitution - Missense(3)		lung(3)	ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(1300-1302)CAA>CGA		phosphodiesterase 4D interacting protein isoform							461.0	484.0	477.0					1																	144918885		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144918885T>C	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.1301A>G	1.37:g.144918885T>C	ENSP00000358360:p.Gln434Arg					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.Q500R|PDE4DIP_uc001emc.1_Missense_Mutation_p.Q434R|PDE4DIP_uc001emd.1_Missense_Mutation_p.Q434R|PDE4DIP_uc001emb.1_Missense_Mutation_p.Q597R|PDE4DIP_uc001eme.1_5'UTR|PDE4DIP_uc001emf.1_Missense_Mutation_p.Q221R	p.Q434R	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	10	1592	-			434			Potential.		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.1301A>G	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	T	18.55	3.647215	0.67358	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.64803	4.66;4.75;4.75;4.76;4.75;3.75;3.76;2.75;2.75;-0.12	5.64	5.64	0.86602	.	.	.	.	.	T	0.67951	0.2948	L	0.53249	1.67	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.988;0.999;0.993;0.996	D;P;D;P;D	0.85130	0.995;0.829;0.997;0.903;0.909	T	0.69731	-0.5066	9	0.45353	T	0.12	.	13.7964	0.63173	0.0:0.0:0.0:1.0	.	597;434;597;500;434	E9PL24;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;MYOME_HUMAN	R	500;434;434;597;571;571;434;434;597;597;221	ENSP00000327209:Q500R;ENSP00000358360:Q434R;ENSP00000358363:Q434R;ENSP00000435654:Q571R;ENSP00000358366:Q571R;ENSP00000358357:Q434R;ENSP00000358355:Q434R;ENSP00000316434:Q597R;ENSP00000433392:Q597R;ENSP00000436791:Q221R	ENSP00000327209:Q500R	Q	-	2	0	PDE4DIP	143630242	0.998000	0.40836	0.994000	0.49952	0.958000	0.62258	3.411000	0.52672	2.144000	0.66660	0.528000	0.53228	CAA		0.438	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		168	587	0	0	0	0.139131	0	168	587				
RBP3	5949	broad.mit.edu	37	10	48389514	48389514	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr10:48389514A>G	ENST00000224600.4	-	1	1477	c.1364T>C	c.(1363-1365)gTg>gCg	p.V455A	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	455	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)	p.V455A(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TGGGGCCAACACACCCAGGAC	0.622																																							uc001jez.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(1363-1365)GTG>GCG		retinol-binding protein 3 precursor	Vitamin A(DB00162)						60.0	54.0	56.0					10																	48389514		2203	4300	6503	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48389514A>G	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.1364T>C	10.37:g.48389514A>G	ENSP00000224600:p.Val455Ala						p.V455A	NM_002900	NP_002891	P10745	RET3_HUMAN			1	1478	-			455			4 X approximate tandem repeats.|2.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.1364T>C	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.249287	0.00268	.	.	ENSG00000107618	ENST00000224600	T	0.61742	0.08	5.43	-5.69	0.02428	Interphotoreceptor retinol-binding (2);	1.805250	0.02762	N	0.118749	T	0.22322	0.0538	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09058	-1.0692	10	0.17369	T	0.5	-5.7676	1.8371	0.03142	0.4955:0.1831:0.1608:0.1606	.	455	P10745	RET3_HUMAN	A	455	ENSP00000224600:V455A	ENSP00000224600:V455A	V	-	2	0	RBP3	48009520	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.064000	0.14437	-0.951000	0.03654	-1.251000	0.01509	GTG		0.622	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		6	30	0	0	0	0.038147	0	6	30				
FOLH1	2346	broad.mit.edu	37	11	49178267	49178267	+	Splice_Site	SNP	A	A	G			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr11:49178267A>G	ENST00000256999.2	-	15	1884		c.e15+1		FOLH1_ENST00000533034.1_Splice_Site|FOLH1_ENST00000356696.3_Splice_Site|FOLH1_ENST00000340334.7_Splice_Site|FOLH1_ENST00000343844.4_Splice_Site	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1						folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)	p.?(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	AGATTCACTTACCCAATTTTT	0.328																																							uc001ngy.2		NA																	1	Unknown(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.e15+1		folate hydrolase 1 isoform 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						89.0	96.0	94.0					11																	49178267		2201	4295	6496	SO:0001630	splice_region_variant	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49178267A>G	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1623+1T>C	11.37:g.49178267A>G						FOLH1_uc001ngx.2_5'Flank|FOLH1_uc001ngz.2_Splice_Site_p.W541_splice|FOLH1_uc009yly.2_Splice_Site_p.W526_splice|FOLH1_uc009ylz.2_Splice_Site_p.W526_splice|FOLH1_uc009yma.2_Splice_Site_p.W233_splice	p.W541_splice	NM_004476	NP_004467	Q04609	FOLH1_HUMAN			15	1884	-								A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Splice_Site	SNP	ENST00000256999.2	37	c.1623_splice	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	A	14.44	2.535064	0.45073	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000343844;ENST00000533034	.	.	.	3.78	3.78	0.43462	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7541	0.46225	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FOLH1	49134843	1.000000	0.71417	0.999000	0.59377	0.762000	0.43233	7.695000	0.84257	1.721000	0.51461	0.338000	0.21704	.		0.328	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476	Intron	26	144	0	0	0	0.144211	0	26	144				
AHNAK	79026	broad.mit.edu	37	11	62298187	62298187	+	Silent	SNP	G	G	C			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr11:62298187G>C	ENST00000378024.4	-	5	3976	c.3702C>G	c.(3700-3702)ccC>ccG	p.P1234P	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1234					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.P1234P(2)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGTCCATTTTGGGTCCTTTGA	0.483																																							uc001ntl.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(3700-3702)CCC>CCG		AHNAK nucleoprotein isoform 1							261.0	270.0	267.0					11																	62298187		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62298187G>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.3702C>G	11.37:g.62298187G>C						AHNAK_uc001ntk.1_Intron	p.P1234P	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	4002	-		Melanoma(852;0.155)	1234					A1A586	Silent	SNP	ENST00000378024.4	37	c.3702C>G	CCDS31584.1																																																																																				0.483	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		64	297	0	0	0	0.139131	0	64	297				
CDC42EP2	10435	broad.mit.edu	37	11	65088480	65088480	+	Missense_Mutation	SNP	C	C	A			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr11:65088480C>A	ENST00000544348.1	+	2	717	c.111C>A	c.(109-111)ttC>ttA	p.F37L	CDC42EP2_ENST00000533419.1_Missense_Mutation_p.F37L|CDC42EP2_ENST00000279249.2_Missense_Mutation_p.F37L			O14613	BORG1_HUMAN	CDC42 effector protein (Rho GTPase binding) 2	37	CRIB. {ECO:0000255|PROSITE- ProRule:PRU00057}.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|Rho GTPase activator activity (GO:0005100)	p.F37L(1)		lung(1)	1						TGGGGGACTTCCGCCACACCA	0.607																																							uc001odl.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(109-111)TTC>TTA		Cdc42 effector protein 2							61.0	58.0	59.0					11																	65088480		2201	4297	6498	SO:0001583	missense	10435				actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity	g.chr11:65088480C>A	AF098290	CCDS8099.1	11q13	2008-07-18				ENSG00000149798			16263	protein-coding gene	gene with protein product	"""CRIB-containing BOGR1 protein"""	606132				10490598, 11035016	Standard	NM_006779		Approved	CEP2, BORG1	uc001odl.3	O14613		ENST00000544348.1:c.111C>A	11.37:g.65088480C>A	ENSP00000442534:p.Phe37Leu						p.F37L	NM_006779	NP_006770	O14613	BORG1_HUMAN			2	561	+			37			CRIB.		B2RD85|Q9UNS0	Missense_Mutation	SNP	ENST00000544348.1	37	c.111C>A	CCDS8099.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692016	0.88735	.	.	ENSG00000149798	ENST00000279249;ENST00000533419;ENST00000544348	D;D;D	0.91011	-2.77;-2.77;-2.77	5.23	5.23	0.72850	PAK-box/P21-Rho-binding (3);	0.000000	0.85682	D	0.000000	D	0.93151	0.7819	L	0.50333	1.59	0.52501	D	0.999959	D	0.67145	0.996	D	0.65874	0.939	D	0.92627	0.6113	10	0.46703	T	0.11	-0.0014	16.3336	0.83051	0.0:1.0:0.0:0.0	.	37	O14613	BORG1_HUMAN	L	37	ENSP00000279249:F37L;ENSP00000431660:F37L;ENSP00000442534:F37L	ENSP00000279249:F37L	F	+	3	2	CDC42EP2	64845056	0.991000	0.36638	1.000000	0.80357	0.996000	0.88848	0.376000	0.20535	2.720000	0.93068	0.591000	0.81541	TTC		0.607	CDC42EP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387258.1	NM_006779		15	53	1	0	1.02788e-11	0.0333	1.16364e-11	15	53				
GRM5	2915	broad.mit.edu	37	11	88780796	88780796	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr11:88780796T>C	ENST00000305447.4	-	1	394	c.245A>G	c.(244-246)gAc>gGc	p.D82G	GRM5_ENST00000455756.2_Missense_Mutation_p.D82G|GRM5_ENST00000418177.2_Missense_Mutation_p.D82G|GRM5_ENST00000305432.5_Missense_Mutation_p.D82G|GRM5_ENST00000393294.3_Missense_Mutation_p.D82G|GRM5_ENST00000393297.1_Missense_Mutation_p.D82G	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	82					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.D82G(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	GAGTGTGGGGTCTGAATTGAT	0.527																																							uc001pcq.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9						c.(244-246)GAC>GGC		glutamate receptor, metabotropic 5 isoform a	Acamprosate(DB00659)						71.0	64.0	67.0					11																	88780796		2201	4297	6498	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88780796T>C	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.245A>G	11.37:g.88780796T>C	ENSP00000306138:p.Asp82Gly					GRM5_uc009yvm.2_Missense_Mutation_p.D82G|GRM5_uc009yvn.1_Missense_Mutation_p.D82G	p.D82G	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			1	445	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	82			Extracellular (Potential).		Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.245A>G	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	T	17.56	3.419406	0.62622	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297;ENST00000393294	T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	5.56	4.41	0.53225	Extracellular ligand-binding receptor (1);	0.047102	0.85682	D	0.000000	T	0.79125	0.4393	M	0.88906	2.99	0.49915	D	0.999838	P;P;B	0.42556	0.783;0.501;0.203	P;B;B	0.51777	0.679;0.397;0.377	T	0.80086	-0.1529	9	.	.	.	.	11.8291	0.52283	0.1315:0.0:0.0:0.8685	.	82;82;82	A8MT20;P41594-2;P41594	.;.;GRM5_HUMAN	G	82	ENSP00000402912:D82G;ENSP00000405690:D82G;ENSP00000305905:D82G;ENSP00000306138:D82G;ENSP00000376975:D82G;ENSP00000376972:D82G	.	D	-	2	0	GRM5	88420444	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	7.906000	0.87423	0.900000	0.36469	0.460000	0.39030	GAC		0.527	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		13	16	0	0	0	0.146539	0	13	16				
ATP8B4	79895	broad.mit.edu	37	15	50211114	50211114	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr15:50211114G>A	ENST00000284509.6	-	19	2098	c.1957C>T	c.(1957-1959)Cag>Tag	p.Q653*	ATP8B4_ENST00000559829.1_Nonsense_Mutation_p.Q653*	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	653						Golgi apparatus (GO:0005794)|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)	p.Q653*(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ACACCCTCCTGTAACTTATCT	0.343																																							uc001zxu.2		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(3)|ovary(2)|breast(2)|large_intestine(1)	8						c.(1957-1959)CAG>TAG		ATPase class I type 8B member 4							149.0	139.0	143.0					15																	50211114		2196	4294	6490	SO:0001587	stop_gained	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50211114G>A	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.1957C>T	15.37:g.50211114G>A	ENSP00000284509:p.Gln653*					ATP8B4_uc010ber.2_Nonsense_Mutation_p.Q526*|ATP8B4_uc010ufd.1_Nonsense_Mutation_p.Q463*|ATP8B4_uc010ufe.1_RNA	p.Q653*	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	19	2099	-		all_lung(180;0.00183)	653			Cytoplasmic (Potential).		Q9H727	Nonsense_Mutation	SNP	ENST00000284509.6	37	c.1957C>T	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	G	40	7.924737	0.98563	.	.	ENSG00000104043	ENST00000284509	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.0671	0.80891	0.0:0.0:1.0:0.0	.	.	.	.	X	653	.	ENSP00000284509:Q653X	Q	-	1	0	ATP8B4	47998406	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	9.405000	0.97313	2.472000	0.83506	0.650000	0.86243	CAG		0.343	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		20	95	0	0	0	0.069288	0	20	95				
GRIN2A	2903	broad.mit.edu	37	16	9858195	9858195	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr16:9858195G>A	ENST00000396573.2	-	14	3515	c.3206C>T	c.(3205-3207)aCg>aTg	p.T1069M	GRIN2A_ENST00000404927.2_Missense_Mutation_p.T1069M|GRIN2A_ENST00000562109.1_Missense_Mutation_p.T1069M|GRIN2A_ENST00000396575.2_Missense_Mutation_p.T1069M|GRIN2A_ENST00000535259.1_Missense_Mutation_p.T912M|GRIN2A_ENST00000330684.3_Missense_Mutation_p.T1069M	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1069					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.T1069M(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCTGTGGCACGTGGCCCGATT	0.502																																							uc002czo.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(3205-3207)ACG>ATG		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						128.0	121.0	124.0					16																	9858195		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9858195G>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3206C>T	16.37:g.9858195G>A	ENSP00000379818:p.Thr1069Met					GRIN2A_uc010uym.1_Missense_Mutation_p.T1069M|GRIN2A_uc010uyn.1_Missense_Mutation_p.T912M|GRIN2A_uc002czr.3_Missense_Mutation_p.T1069M	p.T1069M	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			13	3754	-			1069			Cytoplasmic (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.3206C>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.591479	0.46214	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.12465	2.7;2.68;2.69;2.7;2.7	5.33	5.33	0.75918	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.198738	0.53938	D	0.000051	T	0.30198	0.0757	L	0.57536	1.79	0.52099	D	0.99994	P;P;D	0.65815	0.937;0.949;0.995	P;P;P	0.58077	0.666;0.775;0.832	T	0.00559	-1.1671	9	.	.	.	.	18.0262	0.89270	0.0:0.0:1.0:0.0	.	912;1069;1069	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	M	1069;1069;912;1069;1069	ENSP00000379818:T1069M;ENSP00000385872:T1069M;ENSP00000441572:T912M;ENSP00000332549:T1069M;ENSP00000379820:T1069M	.	T	-	2	0	GRIN2A	9765696	1.000000	0.71417	0.957000	0.39632	0.405000	0.30901	7.396000	0.79891	2.491000	0.84063	0.655000	0.94253	ACG		0.502	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			28	104	0	0	0	0.099896	0	28	104				
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs202140854	byFrequency	TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		CTTACATCCAGCTTGAGTAGT	0.259																																							uc010vbl.1		NA																	0					0						c.(106-108)CTG>TTG		SubName: Full=Putative uncharacterized protein ENSP00000219758;																																						730092							g.chr16:21817457G>A			16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21817457G>A						uc002diq.3_Intron	p.L36L	NR_003370						7	603	-								A8K6T4|B3KWX9|O75704	Silent	SNP	ENST00000546471.1	37	c.106C>T																																																																																					0.259	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1	NR_003370		3	22	0	0	0	0.009096	0	3	22				
SLC9A5	6553	broad.mit.edu	37	16	67298944	67298944	+	Splice_Site	SNP	A	A	C			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr16:67298944A>C	ENST00000299798.11	+	14	2080	c.2015A>C	c.(2014-2016)aAg>aCg	p.K672T	CTC-277H1.7_ENST00000573063.1_RNA	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	672					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.K672T(1)		breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		GGTCCTCAGAAGGATGGTGTG	0.562																																							uc002esm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(2014-2016)AAG>ACG		solute carrier family 9 (sodium/hydrogen							101.0	103.0	103.0					16																	67298944		1937	4154	6091	SO:0001630	splice_region_variant	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67298944A>C		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.2014-1A>C	16.37:g.67298944A>C						SLC9A5_uc010cee.2_Missense_Mutation_p.K377T|SLC9A5_uc010vji.1_Missense_Mutation_p.K176T	p.K672T	NM_004594	NP_004585	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	14	2078	+		Ovarian(137;0.0563)	672					A5PKY7|Q9Y626	Missense_Mutation	SNP	ENST00000299798.11	37	c.2015A>C	CCDS42178.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.170159	0.38315	.	.	ENSG00000135740	ENST00000299798;ENST00000360183	T	0.57752	0.38	4.66	4.66	0.58398	.	1.826610	0.02767	N	0.119241	T	0.47358	0.1441	L	0.27053	0.805	0.32990	D	0.524889	B;B	0.28933	0.228;0.008	B;B	0.30855	0.121;0.004	T	0.41822	-0.9487	10	0.56958	D	0.05	.	10.7495	0.46200	1.0:0.0:0.0:0.0	.	185;672	F8WDV9;Q14940	.;SL9A5_HUMAN	T	672;185	ENSP00000299798:K672T	ENSP00000299798:K672T	K	+	2	0	SLC9A5	65856445	1.000000	0.71417	1.000000	0.80357	0.406000	0.30931	4.809000	0.62591	1.854000	0.53819	0.260000	0.18958	AAG		0.562	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1		Missense_Mutation	6	56	0	0	0	0.021553	0	6	56				
TP53	7157	broad.mit.edu	37	17	7573967	7573967	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr17:7573967G>A	ENST00000269305.4	-	10	1249	c.1060C>T	c.(1060-1062)Cag>Tag	p.Q354*	TP53_ENST00000420246.2_3'UTR|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q354*|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron	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	354	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		Q -> E (in a sporadic cancer; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> R (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.0?(8)|p.Q354*(2)|p.I332fs*5(1)|p.Q354K(1)|p.?(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)	TTCCCAGCCTGGGCATCCTTG	0.597		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)	Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		13	Whole gene deletion(8)|Substitution - Nonsense(2)|Substitution - Missense(1)|Unknown(1)|Deletion - Frameshift(1)	p.0?(7)|p.Q354R(2)|p.I332fs*5(1)|p.Q354K(1)|p.?(1)	bone(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|lung(2)|upper_aerodigestive_tract(1)|large_intestine(1)|stomach(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(1060-1062)CAG>TAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							56.0	43.0	47.0					17																	7573967		2203	4300	6503	SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7573967G>A	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.1060C>T	17.37:g.7573967G>A	ENSP00000269305:p.Gln354*	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_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Nonsense_Mutation_p.Q222*|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Nonsense_Mutation_p.Q354*	p.Q354*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	10	1254	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	354		Q -> R (in sporadic cancers; somatic mutation).|Q -> E (in a sporadic cancer; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).	Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Interaction with HIPK2.		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.1060C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.037761	0.97226	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	.	.	.	5.43	4.4	0.53042	.	0.794537	0.11789	N	0.529378	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-7.1955	6.2331	0.20747	0.0919:0.0:0.7227:0.1854	.	.	.	.	X	354;354;343	.	ENSP00000269305:Q354X	Q	-	1	0	TP53	7514692	0.837000	0.29446	0.909000	0.35828	0.924000	0.55760	2.910000	0.48766	2.549000	0.85964	0.561000	0.74099	CAG		0.597	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		4	18	0	0	0	0.014758	0	4	18				
KRTAP4-11	653240	broad.mit.edu	37	17	39274424	39274424	+	Missense_Mutation	SNP	G	G	C			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr17:39274424G>C	ENST00000391413.2	-	1	182	c.144C>G	c.(142-144)agC>agG	p.S48R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	48	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.S48R(2)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCCTGCAGCAGCTGGACACAC	0.672																																							uc002hvz.2		NA																	2	Substitution - Missense(2)		lung(1)|endometrium(1)		0						c.(142-144)AGC>AGG		keratin associated protein 4-11							11.0	16.0	14.0					17																	39274424		687	1589	2276	SO:0001583	missense	653240					keratin filament		g.chr17:39274424G>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.144C>G	17.37:g.39274424G>C	ENSP00000375232:p.Ser48Arg						p.S48R	NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	183	-		Breast(137;0.000496)	48		Missing (in allele KAP4.14).	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].|5.		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.144C>G	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	13.52	2.262143	0.39995	.	.	ENSG00000212721	ENST00000391413	T	0.01963	4.53	3.91	3.91	0.45181	.	0.663392	0.11138	N	0.595595	T	0.06826	0.0174	M	0.91717	3.235	0.27842	N	0.941075	B	0.21606	0.058	B	0.25614	0.062	T	0.08310	-1.0728	10	0.66056	D	0.02	.	7.305	0.26443	0.1194:0.0:0.8806:0.0	.	48	Q9BYQ6	KR411_HUMAN	R	48	ENSP00000375232:S48R	ENSP00000375232:S48R	S	-	3	2	KRTAP4-11	36527950	0.739000	0.28196	0.990000	0.47175	0.119000	0.20118	0.787000	0.26858	2.015000	0.59207	0.609000	0.83330	AGC		0.672	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			3	33	0	0	0	0.115264	0	3	33				
Unknown	0	broad.mit.edu	37	17	58179841	58179841	+	IGR	SNP	A	A	G			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr17:58179841A>G								CTD-2319I12.1 (10595 upstream) : CTD-2319I12.4 (24054 downstream)														p.Y61Y(1)									ACAGACTAGCATATCTTTTGT	0.373																																							uc010wot.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(322-324)TAT>TAC		adaptor-related protein complex 1 sigma 2																																				SO:0001628	intergenic_variant	653653							g.chr17:58179841A>G																													17.37:g.58179841A>G							p.Y108Y	NM_003916	NP_003907					1	440	-									Silent	SNP		37	c.324T>C																																																																																				0	0.373									32	120	0	0	0	0.069456	0	32	120				
POTEC	388468	broad.mit.edu	37	18	14543092	14543092	+	Silent	SNP	G	G	A	rs45502401	byFrequency	TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr18:14543092G>A	ENST00000358970.5	-	1	53	c.54C>T	c.(52-54)ttC>ttT	p.F18F	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	18										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TCCTGAGATCGAATGGCTTCT	0.572																																							uc010dln.2		NA																	0				skin(3)	3						c.(52-54)TTC>TTT		ANKRD26-like family B, member 2							125.0	104.0	111.0					18																	14543092		692	1591	2283	SO:0001819	synonymous_variant	388468							g.chr18:14543092G>A	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.54C>T	18.37:g.14543092G>A						POTEC_uc010xaj.1_RNA	p.F18F	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			1	508	-			18						Silent	SNP	ENST00000358970.5	37	c.54C>T	CCDS45835.1																																																																																				0.572	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		8	79	0	0	0	0.080935	0	8	79				
CABLES1	91768	broad.mit.edu	37	18	20814573	20814573	+	Splice_Site	SNP	G	G	A			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr18:20814573G>A	ENST00000256925.7	+	5	1090	c.1090G>A	c.(1090-1092)Gac>Aac	p.D364N	CABLES1_ENST00000400473.2_Splice_Site_p.D37N|TMEM241_ENST00000450466.2_Intron|CABLES1_ENST00000585061.1_Intron|CABLES1_ENST00000420687.2_Splice_Site_p.D99N	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	364	Interacts with CDK3. {ECO:0000250}.				blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|nervous system development (GO:0007399)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)	cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)	p.D364N(1)		breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TCCTCCCAGGGACTTGAAGTT	0.478																																							uc002kuc.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1090-1092)GAC>AAC		Cdk5 and Abl enzyme substrate 1 isoform 2							68.0	70.0	69.0					18																	20814573		1963	4179	6142	SO:0001630	splice_region_variant	91768				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding	g.chr18:20814573G>A	BC037218	CCDS42417.1, CCDS42418.1, CCDS58615.1	18q11.2	2005-08-16				ENSG00000134508			25097	protein-coding gene	gene with protein product		609194				12477932	Standard	NM_138375		Approved	HsT2563, FLJ35924	uc002kuc.2	Q8TDN4		ENST00000256925.7:c.1089-1G>A	18.37:g.20814573G>A						C18orf45_uc010xaq.1_Intron|CABLES1_uc002kub.2_Intron|CABLES1_uc002kud.2_Missense_Mutation_p.D99N	p.D364N	NM_001100619	NP_001094089	Q8TDN4	CABL1_HUMAN			5	1090	+	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)		364			Interacts with CDK3 (By similarity).		B4DK60|Q8N3Y8|Q8NA22|Q9BTG1	Missense_Mutation	SNP	ENST00000256925.7	37	c.1090G>A	CCDS42417.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889164	0.91889	.	.	ENSG00000134508	ENST00000400473;ENST00000256925;ENST00000420687	T;T;T	0.49139	0.86;0.79;0.82	5.81	4.94	0.65067	.	0.043309	0.85682	N	0.000000	T	0.45094	0.1325	M	0.70595	2.14	0.80722	D	1	B;P	0.42409	0.003;0.779	B;B	0.32149	0.005;0.141	T	0.54289	-0.8316	10	0.66056	D	0.02	-11.3715	14.8909	0.70609	0.0686:0.0:0.9314:0.0	.	99;364	Q8TDN4-2;Q8TDN4	.;CABL1_HUMAN	N	37;364;99	ENSP00000383321:D37N;ENSP00000256925:D364N;ENSP00000413851:D99N	ENSP00000256925:D364N	D	+	1	0	CABLES1	19068571	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.755000	0.91646	1.452000	0.47756	0.655000	0.94253	GAC		0.478	CABLES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445198.2	NM_138375	Missense_Mutation	7	9	0	0	0	0.047766	0	7	9				
CIB3	117286	broad.mit.edu	37	19	16284278	16284278	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr19:16284278G>T	ENST00000269878.4	-	1	58	c.9C>A	c.(7-9)aaC>aaA	p.N3K	CIB3_ENST00000541493.1_5'UTR|CIB3_ENST00000379859.3_Missense_Mutation_p.N3K	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	3							calcium ion binding (GO:0005509)	p.N3K(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						CTGTCTGCTTGTTGCCCATGG	0.592																																							uc002nds.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(7-9)AAC>AAA		DNA-dependent protein kinase catalytic							218.0	156.0	177.0					19																	16284278		2203	4300	6503	SO:0001583	missense	117286						calcium ion binding	g.chr19:16284278G>T	AB050868	CCDS12340.1, CCDS74305.1	19p13.12	2013-01-10						"""EF-hand domain containing"""	24580	protein-coding gene	gene with protein product		610645					Standard	XM_005259728		Approved	KIP3	uc002nds.3	Q96Q77		ENST00000269878.4:c.9C>A	19.37:g.16284278G>T	ENSP00000269878:p.Asn3Lys					CIB3_uc010eae.2_5'UTR|CIB3_uc010eaf.2_RNA|CIB3_uc010eag.2_Missense_Mutation_p.N3K	p.N3K	NM_054113	NP_473454	Q96Q77	CIB3_HUMAN			1	9	-			3					E7EUX1|Q2M1W0|Q6ISP1	Missense_Mutation	SNP	ENST00000269878.4	37	c.9C>A	CCDS12340.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.448163	0.63178	.	.	ENSG00000141977	ENST00000269878;ENST00000379859;ENST00000541493	T;T	0.67698	-0.28;0.03	4.68	3.64	0.41730	.	0.237431	0.39759	N	0.001264	T	0.79064	0.4383	M	0.74647	2.275	0.21762	N	0.999552	D;D	0.89917	1.0;0.983	D;P	0.87578	0.998;0.792	T	0.69439	-0.5145	10	0.72032	D	0.01	-35.014	10.4869	0.44729	0.0907:0.0:0.9093:0.0	.	3;3	E7EUX1;Q96Q77	.;CIB3_HUMAN	K	3	ENSP00000269878:N3K;ENSP00000369188:N3K	ENSP00000269878:N3K	N	-	3	2	CIB3	16145278	1.000000	0.71417	0.983000	0.44433	0.765000	0.43378	3.711000	0.54868	1.307000	0.44944	0.561000	0.74099	AAC		0.592	CIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460351.1	NM_054113		19	52	1	0	1.28384e-07	0.062417	1.42649e-07	19	52				
IRF3	3661	broad.mit.edu	37	19	50167985	50167985	+	Silent	SNP	A	A	G			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr19:50167985A>G	ENST00000597198.1	-	2	492	c.111T>C	c.(109-111)ccT>ccC	p.P37P	IRF3_ENST00000600022.1_Intron|IRF3_ENST00000600911.1_Silent_p.P37P|IRF3_ENST00000599144.1_Intron|IRF3_ENST00000601291.1_Silent_p.P37P|BCL2L12_ENST00000246785.3_5'Flank|IRF3_ENST00000309877.7_Silent_p.P37P|IRF3_ENST00000596822.1_Intron|BCL2L12_ENST00000441864.2_5'Flank|IRF3_ENST00000599223.1_Silent_p.P37P|IRF3_ENST00000442265.2_Silent_p.P37P|IRF3_ENST00000377135.4_Silent_p.P37P|IRF3_ENST00000593922.1_Intron|IRF3_ENST00000596765.1_Intron|BCL2L12_ENST00000246784.3_5'Flank|IRF3_ENST00000377139.3_Silent_p.P37P|IRF3_ENST00000598808.1_Intron			Q14653	IRF3_HUMAN	interferon regulatory factor 3	37					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dsRNA (GO:0071359)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage apoptotic process (GO:0071888)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of interferon-beta biosynthetic process (GO:0045358)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|programmed necrotic cell death (GO:0097300)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)	p.P37P(1)		breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		CGTGCTTCCAAGGGATGCGGA	0.657																																							uc010end.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(109-111)CCT>CCC		interferon regulatory factor 3							99.0	94.0	96.0					19																	50167985		2203	4300	6503	SO:0001819	synonymous_variant	3661				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr19:50167985A>G		CCDS12775.1, CCDS56099.1, CCDS59407.1, CCDS59408.1, CCDS59409.1	19q13.3-q13.4	2008-07-16				ENSG00000126456			6118	protein-coding gene	gene with protein product		603734				8524823	Standard	NM_001571		Approved		uc002pow.3	Q14653		ENST00000597198.1:c.111T>C	19.37:g.50167985A>G						IRF3_uc002pos.1_5'Flank|IRF3_uc002pot.1_Silent_p.P37P|IRF3_uc002pox.1_Silent_p.P37P|IRF3_uc002poy.1_Silent_p.P37P|IRF3_uc002pou.2_Silent_p.P37P|IRF3_uc002pov.2_Intron|IRF3_uc002pow.2_Silent_p.P37P|IRF3_uc002poz.1_Silent_p.P37P|IRF3_uc010ene.1_Silent_p.P37P|BCL2L12_uc002ppa.2_5'Flank|BCL2L12_uc002ppb.2_5'Flank	p.P37P	NM_001571	NP_001562	Q14653	IRF3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)	2	493	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	37			IRF tryptophan pentad repeat.		A8K7L2|B2RAZ3|Q5FBY1|Q5FBY2|Q5FBY4|Q7Z5G6	Silent	SNP	ENST00000597198.1	37	c.111T>C	CCDS12775.1																																																																																				0.657	IRF3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465962.1	NM_001571		25	87	0	0	0	0.144211	0	25	87				
DEFB121	245934	broad.mit.edu	37	20	29992817	29992817	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr20:29992817A>G	ENST00000376314.2	-	2	243	c.130T>C	c.(130-132)Tgc>Cgc	p.C44R	DEFB121_ENST00000376312.3_5'UTR	NM_001011878.2	NP_001011878.1	Q5J5C9	DB121_HUMAN	defensin, beta 121	44					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.C44R(1)		large_intestine(1)|lung(1)	2	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TCAGTTTTGCATAATATATAG	0.388																																							uc002wvv.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(130-132)TGC>CGC		defensin, beta 121 precursor							222.0	205.0	211.0					20																	29992817		2203	4300	6503	SO:0001583	missense	245934				defense response to bacterium	extracellular region		g.chr20:29992817A>G	AI476463	CCDS33456.1	20q11.1	2008-07-17			ENSG00000204548	ENSG00000204548		"""Defensins, beta"""	18101	protein-coding gene	gene with protein product	"""defensin, beta 21"""					11854508	Standard	NM_001011878		Approved	DEFB-21	uc021wbq.1	Q5J5C9	OTTHUMG00000032171	ENST00000376314.2:c.130T>C	20.37:g.29992817A>G	ENSP00000417128:p.Cys44Arg						p.C44R	NM_001011878	NP_001011878	Q5J5C9	DB121_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	166	-	all_hematologic(12;0.158)		44					A1L4N1	Missense_Mutation	SNP	ENST00000376314.2	37	c.130T>C	CCDS33456.1	.	.	.	.	.	.	.	.	.	.	A	14.23	2.474319	0.43942	.	.	ENSG00000204548	ENST00000376314	T	0.76316	-1.01	3.51	3.51	0.40186	.	0.000000	0.42420	D	0.000708	D	0.85673	0.5751	.	.	.	0.35826	D	0.824953	D	0.89917	1.0	D	0.91635	0.999	D	0.88865	0.3329	9	0.72032	D	0.01	.	8.7062	0.34356	1.0:0.0:0.0:0.0	.	44	Q5J5C9	DB121_HUMAN	R	44	ENSP00000417128:C44R	ENSP00000417128:C44R	C	-	1	0	DEFB121	29456478	0.855000	0.29742	0.293000	0.24932	0.024000	0.10985	2.997000	0.49457	1.822000	0.53115	0.460000	0.39030	TGC		0.388	DEFB121-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354404.1	NM_001011878		18	84	0	0	0	0.0333	0	18	84				
PI4KA	5297	broad.mit.edu	37	22	21083678	21083678	+	Silent	SNP	C	C	G			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr22:21083678C>G	ENST00000572273.1	-	39	4661	c.4431G>C	c.(4429-4431)ctG>ctC	p.L1477L	PI4KA_ENST00000414196.3_Silent_p.L287L|PI4KA_ENST00000255882.6_Silent_p.L1535L			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1477	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.L1477L(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GCTTCTCACTCAGGCTGATGT	0.607																																					GBM(136;1332 1831 3115 23601 50806)	GBM(136;1332 1831 3115 23601 50806)	uc002zsz.3		NA																	2	Substitution - coding silent(2)		lung(2)	lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4						c.(4429-4431)CTG>CTC		phosphatidylinositol 4-kinase type 3 alpha							164.0	123.0	137.0					22																	21083678		2203	4300	6503	SO:0001819	synonymous_variant	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21083678C>G	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.4431G>C	22.37:g.21083678C>G						PI4KA_uc002zsy.3_Silent_p.L287L	p.L1477L	NM_058004	NP_477352	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		39	4662	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	1477					Q7Z625|Q9UPG2	Silent	SNP	ENST00000572273.1	37	c.4431G>C																																																																																					0.607	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		2	10	0	0	0	0.115264	0	2	10				
WBP2NL	164684	broad.mit.edu	37	22	42415801	42415801	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr22:42415801C>T	ENST00000328823.9	+	3	338	c.307C>T	c.(307-309)Cca>Tca	p.P103S	WBP2NL_ENST00000543212.1_Missense_Mutation_p.P29S	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	103					egg activation (GO:0007343)|male pronucleus assembly (GO:0035039)|meiotic nuclear division (GO:0007126)	perinuclear theca (GO:0033011)	WW domain binding (GO:0050699)	p.P103S(1)		breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						TCAGGCAGCTCCATATGGTAA	0.363																																							uc011ape.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(307-309)CCA>TCA		WBP2 N-terminal like							155.0	143.0	147.0					22																	42415801		2203	4300	6503	SO:0001583	missense	164684				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding	g.chr22:42415801C>T	BC022546	CCDS14029.1	22q13.2	2007-07-18			ENSG00000183066	ENSG00000183066			28389	protein-coding gene	gene with protein product	"""postacrosomal sheath WW domain-binding protein"""	610981				17289678	Standard	NM_152613		Approved	FLJ26145, MGC26816, PAWP	uc003bbt.3	Q6ICG8	OTTHUMG00000151270	ENST00000328823.9:c.307C>T	22.37:g.42415801C>T	ENSP00000332983:p.Pro103Ser					WBP2NL_uc003bbt.2_Missense_Mutation_p.P103S|WBP2NL_uc011apk.1_Intron|WBP2NL_uc003bbu.2_RNA|WBP2NL_uc003bbv.1_RNA	p.P103S	NM_152613	NP_689826	Q6ICG8	WBP2L_HUMAN			4	323	+			103					A3KFF7|A8MSG5|B3KXX4|Q8TBF0|Q8TBF3	Missense_Mutation	SNP	ENST00000328823.9	37	c.307C>T	CCDS14029.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.335148	0.60853	.	.	ENSG00000183066	ENST00000328823;ENST00000543212	T;T	0.38240	1.15;1.15	4.86	3.82	0.43975	WW-domain-binding protein (1);	0.158925	0.30109	N	0.010393	T	0.52141	0.1716	M	0.64170	1.965	0.52099	D	0.999949	D	0.67145	0.996	D	0.64042	0.921	T	0.52434	-0.8576	10	0.52906	T	0.07	-11.2025	12.5374	0.56150	0.0:0.9157:0.0:0.0843	.	103	Q6ICG8	WBP2L_HUMAN	S	103;29	ENSP00000332983:P103S;ENSP00000442447:P29S	ENSP00000332983:P103S	P	+	1	0	WBP2NL	40745747	1.000000	0.71417	0.990000	0.47175	0.706000	0.40770	3.085000	0.50151	2.532000	0.85374	0.655000	0.94253	CCA		0.363	WBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322037.1	NM_152613		30	74	0	0	0	0.144211	0	30	74				
TTLL12	23170	broad.mit.edu	37	22	43564118	43564118	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr22:43564118C>T	ENST00000216129.6	-	14	1894	c.1831G>A	c.(1831-1833)Gac>Aac	p.D611N	TTLL12_ENST00000494035.1_Missense_Mutation_p.D32N	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	611	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)			p.D611N(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				CGCTCACAGTCGGGGTTGAAG	0.597																																							uc003bdq.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1831-1833)GAC>AAC		tubulin tyrosine ligase-like family, member 12							169.0	134.0	146.0					22																	43564118		2203	4300	6503	SO:0001583	missense	23170				protein modification process		tubulin-tyrosine ligase activity	g.chr22:43564118C>T	D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"""Tubulin tyrosine ligase-like family"""	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.1831G>A	22.37:g.43564118C>T	ENSP00000216129:p.Asp611Asn					TTLL12_uc003bdp.2_3'UTR|TTLL12_uc003bdr.1_Missense_Mutation_p.D611N	p.D611N	NM_015140	NP_055955	Q14166	TTL12_HUMAN			14	1863	-		Ovarian(80;0.221)|Glioma(61;0.222)	611			TTL.		Q20WK5|Q9UGU3	Missense_Mutation	SNP	ENST00000216129.6	37	c.1831G>A	CCDS14047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.487386|5.487386	0.96323|0.96323	.|.	.|.	ENSG00000100304|ENSG00000100304	ENST00000216129;ENST00000423379|ENST00000357017	T|.	0.07800|.	3.16|.	5.13|5.13	5.13|5.13	0.70059|0.70059	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85137|0.85137	0.5628|0.5628	M|M	0.92026|0.92026	3.265|3.265	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	D|D	0.88764|0.88764	0.3259|0.3259	10|6	0.66056|0.87932	D|D	0.02|0	-31.1298|-31.1298	16.7513|16.7513	0.85487|0.85487	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	611;611|.	B1AH89;Q14166|.	.;TTL12_HUMAN|.	N|Q	611|210	ENSP00000216129:D611N|.	ENSP00000216129:D611N|ENSP00000349521:R210Q	D|R	-|-	1|2	0|0	TTLL12|TTLL12	41894062|41894062	1.000000|1.000000	0.71417|0.71417	0.941000|0.941000	0.38009|0.38009	0.953000|0.953000	0.61014|0.61014	7.624000|7.624000	0.83124|0.83124	2.386000|2.386000	0.81285|0.81285	0.491000|0.491000	0.48974|0.48974	GAC|CGA		0.597	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319611.1	NM_015140		19	49	0	0	0	0.049695	0	19	49				
BRPF1	7862	broad.mit.edu	37	3	9780966	9780966	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr3:9780966A>G	ENST00000457855.1	+	2	894	c.883A>G	c.(883-885)Atg>Gtg	p.M295V	BRPF1_ENST00000424362.1_Missense_Mutation_p.M295V|BRPF1_ENST00000383829.2_Missense_Mutation_p.M295V|BRPF1_ENST00000302054.3_Missense_Mutation_p.M295V|BRPF1_ENST00000433861.2_Missense_Mutation_p.M295V			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	295					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.M295V(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CTTCTGTGACATGTGCAACCT	0.557																																							uc003bse.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(883-885)ATG>GTG		bromodomain and PHD finger-containing protein 1							98.0	76.0	83.0					3																	9780966		2203	4300	6503	SO:0001583	missense	7862				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	g.chr3:9780966A>G	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.883A>G	3.37:g.9780966A>G	ENSP00000410210:p.Met295Val					BRPF1_uc003bsf.2_Missense_Mutation_p.M295V|BRPF1_uc003bsg.2_Missense_Mutation_p.M295V|BRPF1_uc011ati.1_Missense_Mutation_p.M295V	p.M295V	NM_004634	NP_004625	P55201	BRPF1_HUMAN			3	1282	+	Medulloblastoma(99;0.227)		295			PHD-type.		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	c.883A>G	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	A	14.87	2.664421	0.47572	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	D;D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18;-2.18	6.07	6.07	0.98685	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.79446	0.4447	N	0.05230	-0.09	0.80722	D	1	B;P;P;B	0.36633	0.198;0.539;0.562;0.236	B;B;B;B	0.44224	0.237;0.257;0.444;0.349	T	0.77848	-0.2435	10	0.15952	T	0.53	.	16.6288	0.85011	1.0:0.0:0.0:0.0	.	295;295;295;295	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	V	295	ENSP00000402485:M295V;ENSP00000398863:M295V;ENSP00000373340:M295V;ENSP00000306297:M295V;ENSP00000410210:M295V	ENSP00000306297:M295V	M	+	1	0	BRPF1	9755966	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.326000	0.78906	0.533000	0.62120	ATG		0.557	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		10	30	0	0	0	0.080935	0	10	30				
SCN5A	6331	broad.mit.edu	37	3	38592973	38592973	+	Silent	SNP	T	T	A	rs201559770		TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr3:38592973T>A	ENST00000333535.4	-	28	5039	c.4890A>T	c.(4888-4890)atA>atT	p.I1630I	SCN5A_ENST00000413689.1_Silent_p.I1630I|SCN5A_ENST00000414099.2_Silent_p.I1612I|SCN5A_ENST00000455624.2_Silent_p.I1597I|SCN5A_ENST00000443581.1_Silent_p.I1629I|SCN5A_ENST00000450102.2_Silent_p.I1576I|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000425664.1_Silent_p.I1612I|SCN5A_ENST00000423572.2_Silent_p.I1629I|SCN5A_ENST00000449557.2_Silent_p.I1576I|SCN5A_ENST00000451551.2_Silent_p.I1576I			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1630					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.I1630I(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GGATGCGGCCTATTCGGGCCA	0.597																																							uc003cio.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9						c.(4888-4890)ATA>ATT		voltage-gated sodium channel type V alpha	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						94.0	97.0	96.0					3																	38592973		2203	4300	6503	SO:0001819	synonymous_variant	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38592973T>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.4890A>T	3.37:g.38592973T>A						SCN5A_uc003cin.2_Silent_p.I1629I|SCN5A_uc003cil.3_Silent_p.I1630I|SCN5A_uc010hhi.2_Silent_p.I1612I|SCN5A_uc010hhk.2_Silent_p.I1597I|SCN5A_uc011ayr.1_Silent_p.I1576I	p.I1630I	NM_198056	NP_932173	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	28	5084	-	Medulloblastoma(35;0.163)		1630			Helical; Voltage-sensor; Name=S4 of repeat IV; (Potential).		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	c.4890A>T	CCDS46796.1																																																																																				0.597	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		18	60	0	0	0	0.055883	0	18	60				
EPHA3	2042	broad.mit.edu	37	3	89462377	89462377	+	Missense_Mutation	SNP	G	G	T	rs374235660		TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr3:89462377G>T	ENST00000336596.2	+	10	2074	c.1849G>T	c.(1849-1851)Gat>Tat	p.D617Y	EPHA3_ENST00000494014.1_Missense_Mutation_p.D617Y	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	617					cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.D617Y(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CAAGGAATTGGATGCCACCAA	0.433										TSP Lung(6;0.00050)																													uc003dqy.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33						c.(1849-1851)GAT>TAT		ephrin receptor EphA3 isoform a precursor		G	TYR/ASP	0,4406		0,0,2203	178.0	156.0	164.0		1849	5.9	1.0	3		164	1,8597	1.2+/-3.3	0,1,4298	no	missense	EPHA3	NM_005233.5	160	0,1,6501	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging	617/984	89462377	1,13003	2203	4299	6502	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89462377G>T	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1849G>T	3.37:g.89462377G>T	ENSP00000337451:p.Asp617Tyr	TSP Lung(6;0.00050)				EPHA3_uc010hon.1_RNA	p.D617Y	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	10	2074	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	617			Cytoplasmic (Potential).		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.1849G>T	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.775379	0.90108	0.0	1.16E-4	ENSG00000044524	ENST00000336596;ENST00000494014	T;T	0.22539	1.95;1.95	5.95	5.95	0.96441	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.59582	0.2204	M	0.92970	3.365	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.67209	-0.5728	9	.	.	.	.	20.3812	0.98933	0.0:0.0:1.0:0.0	.	617	P29320	EPHA3_HUMAN	Y	617	ENSP00000337451:D617Y;ENSP00000419190:D617Y	.	D	+	1	0	EPHA3	89545067	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.775000	0.98995	2.821000	0.97095	0.650000	0.86243	GAT		0.433	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		21	62	1	0	2.37509e-13	0.055883	2.74049e-13	21	62				
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		1582	Substitution - Missense(1582)	p.H1047R(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(3139-3141)CAT>CGT		phosphoinositide-3-kinase, catalytic, alpha							99.0	89.0	92.0					3																	178952085		1912	4130	6042	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952085A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.H1047R	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3297	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3140A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			14	34	0	0	0	0.132662	0	14	34				
TLR6	10333	broad.mit.edu	37	4	38830532	38830532	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr4:38830532G>A	ENST00000381950.1	-	1	628	c.563C>T	c.(562-564)aCa>aTa	p.T188I	TLR6_ENST00000436693.2_Missense_Mutation_p.T188I			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	188					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|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)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.T188I(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TAGACTTTCTGTCTCATTTTC	0.328																																							uc003gtm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(562-564)ACA>ATA		toll-like receptor 6 precursor							31.0	35.0	34.0					4																	38830532		2197	4299	6496	SO:0001583	missense	10333				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	g.chr4:38830532G>A		CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"""CD molecules"""	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.563C>T	4.37:g.38830532G>A	ENSP00000371376:p.Thr188Ile					TLR6_uc010ifg.1_Missense_Mutation_p.T188I	p.T188I	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN			1	629	-			188			Extracellular (Potential).|LRR 6.		B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Missense_Mutation	SNP	ENST00000381950.1	37	c.563C>T	CCDS3446.1	.	.	.	.	.	.	.	.	.	.	G	4.018	0.000734	0.07819	.	.	ENSG00000174130	ENST00000436693;ENST00000381950;ENST00000508542	T;T	0.02369	4.32;4.32	5.6	-4.27	0.03744	.	1.505420	0.03803	N	0.264830	T	0.03263	0.0095	L	0.51422	1.61	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.46884	-0.9159	10	0.62326	D	0.03	.	2.5872	0.04833	0.134:0.322:0.2841:0.2598	.	188	Q9Y2C9	TLR6_HUMAN	I	188	ENSP00000389600:T188I;ENSP00000371376:T188I	ENSP00000371376:T188I	T	-	2	0	TLR6	38506927	0.000000	0.05858	0.001000	0.08648	0.539000	0.34962	-1.451000	0.02387	-0.724000	0.04908	0.491000	0.48974	ACA		0.328	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1			8	35	0	0	0	0.047766	0	8	35				
CEP135	9662	broad.mit.edu	37	4	56830457	56830457	+	Silent	SNP	A	A	C			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr4:56830457A>C	ENST00000257287.4	+	7	841	c.717A>C	c.(715-717)cgA>cgC	p.R239R		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	239					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)	p.R239R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TAAGAGAACGAGAGATAGAAC	0.363																																							uc003hbi.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(715-717)CGA>CGC		centrosome protein 4							146.0	144.0	145.0					4																	56830457		2203	4300	6503	SO:0001819	synonymous_variant	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56830457A>C	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.717A>C	4.37:g.56830457A>C						CEP135_uc003hbj.2_5'Flank|CEP135_uc010igz.1_Silent_p.R69R	p.R239R	NM_025009	NP_079285	Q66GS9	CP135_HUMAN			7	951	+	Glioma(25;0.08)|all_neural(26;0.101)		239			Potential.		B2RMY0|O75130|Q58F25|Q9H8H7	Silent	SNP	ENST00000257287.4	37	c.717A>C	CCDS33986.1																																																																																				0.363	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		7	61	0	0	0	0.047766	0	7	61				
METAP1	23173	broad.mit.edu	37	4	99982307	99982307	+	Missense_Mutation	SNP	G	G	A	rs371960839		TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr4:99982307G>A	ENST00000296411.6	+	11	1134	c.1000G>A	c.(1000-1002)Gga>Aga	p.G334R	METAP1_ENST00000544031.1_Missense_Mutation_p.G284R	NM_015143.2	NP_055958.2	P53582	MAP11_HUMAN	methionyl aminopeptidase 1	334					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|phototransduction, visible light (GO:0007603)|platelet aggregation (GO:0070527)|protein initiator methionine removal (GO:0070084)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of translation (GO:0006417)|rhodopsin mediated signaling pathway (GO:0016056)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic ribosome (GO:0022626)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metalloaminopeptidase activity (GO:0070006)|metalloexopeptidase activity (GO:0008235)	p.G334R(2)		endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		TGTTGAAGGCGGATGGCAGGA	0.443																																							uc003huf.3		NA																	2	Substitution - Missense(2)		lung(1)|endometrium(1)		0						c.(1000-1002)GGA>AGA		methionyl aminopeptidase 1		G	ARG/GLY	0,3848		0,0,1924	157.0	157.0	157.0		1000	5.0	1.0	4		157	1,8263		0,1,4131	no	missense	METAP1	NM_015143.2	125	0,1,6055	AA,AG,GG		0.0121,0.0,0.0083	possibly-damaging	334/387	99982307	1,12111	1924	4132	6056	SO:0001583	missense	23173				N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	g.chr4:99982307G>A	D42084	CCDS47110.1	4q23	2010-08-20			ENSG00000164024	ENSG00000164024	3.4.11.18		15789	protein-coding gene	gene with protein product	"""Peptidase M"""	610151				7788527, 12144506	Standard	NM_015143		Approved	KIAA0094, MetAP1A, MAP1A	uc003huf.4	P53582	OTTHUMG00000161231	ENST00000296411.6:c.1000G>A	4.37:g.99982307G>A	ENSP00000296411:p.Gly334Arg					METAP1_uc003hug.2_RNA|METAP1_uc010ild.2_RNA	p.G334R	NM_015143	NP_055958	P53582	AMPM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)	11	1117	+			334					B4E2E6	Missense_Mutation	SNP	ENST00000296411.6	37	c.1000G>A	CCDS47110.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.936318	0.34189	0.0	1.21E-4	ENSG00000164024	ENST00000296411;ENST00000544031;ENST00000510133;ENST00000514051	T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32	5.04	5.04	0.67666	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	T	0.71048	0.3294	L	0.28458	0.855	0.80722	D	1	P	0.35575	0.51	B	0.32342	0.144	T	0.69157	-0.5219	9	.	.	.	-21.1687	18.5665	0.91119	0.0:0.0:1.0:0.0	.	334	P53582	AMPM1_HUMAN	R	334;284;118;64	ENSP00000296411:G334R;ENSP00000440993:G284R;ENSP00000423071:G118R;ENSP00000422689:G64R	.	G	+	1	0	METAP1	100201330	1.000000	0.71417	0.991000	0.47740	0.338000	0.28826	7.627000	0.83176	2.610000	0.88304	0.655000	0.94253	GGA		0.443	METAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364237.1	NM_015143		19	105	0	0	0	0.049695	0	19	105				
CAMK2D	817	broad.mit.edu	37	4	114530323	114530323	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr4:114530323T>C	ENST00000342666.5	-	4	259	c.260A>G	c.(259-261)tAc>tGc	p.Y87C	CAMK2D_ENST00000296402.5_Missense_Mutation_p.Y87C|CAMK2D_ENST00000379773.2_Missense_Mutation_p.Y87C|CAMK2D_ENST00000454265.2_Missense_Mutation_p.Y87C|CAMK2D_ENST00000394526.2_Missense_Mutation_p.Y87C|CAMK2D_ENST00000508738.1_Missense_Mutation_p.Y87C|CAMK2D_ENST00000515496.1_Missense_Mutation_p.Y87C|CAMK2D_ENST00000418639.2_Missense_Mutation_p.Y87C|CAMK2D_ENST00000429180.1_Missense_Mutation_p.Y87C|CAMK2D_ENST00000514328.1_Missense_Mutation_p.Y87C|CAMK2D_ENST00000394522.3_Missense_Mutation_p.Y87C|CAMK2D_ENST00000505990.1_Missense_Mutation_p.Y87C|CAMK2D_ENST00000394524.3_Missense_Mutation_p.Y87C|CAMK2D_ENST00000511664.1_Missense_Mutation_p.Y87C			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	87	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cardiac muscle cell contraction (GO:0086003)|cellular response to calcium ion (GO:0071277)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle cell action potential (GO:0098901)|regulation of cardiac muscle cell action potential involved in regulation of contraction (GO:0098909)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cell growth (GO:0001558)|regulation of cellular localization (GO:0060341)|regulation of generation of L-type calcium current (GO:1902514)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of histone deacetylase activity (GO:1901725)|regulation of membrane depolarization (GO:0003254)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of the force of heart contraction (GO:0002026)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|relaxation of cardiac muscle (GO:0055119)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|calcium channel complex (GO:0034704)|calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intercalated disc (GO:0014704)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|ion channel binding (GO:0044325)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|sodium channel inhibitor activity (GO:0019871)|titin binding (GO:0031432)	p.Y87C(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		AAACACCAAGTAGTGAAAGCC	0.323																																							uc003ibi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(259-261)TAC>TGC		calcium/calmodulin-dependent protein kinase II							75.0	75.0	75.0					4																	114530323		2203	4299	6502	SO:0001583	missense	817				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr4:114530323T>C	U50361	CCDS3703.1, CCDS3704.1, CCDS43263.1, CCDS47127.1, CCDS54797.1	4q26	2008-10-30	2008-10-30		ENSG00000145349	ENSG00000145349			1462	protein-coding gene	gene with protein product		607708	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II delta"""	CAMKD			Standard	NM_001221		Approved		uc003ibi.3	Q13557	OTTHUMG00000132910	ENST00000342666.5:c.260A>G	4.37:g.114530323T>C	ENSP00000339740:p.Tyr87Cys					CAMK2D_uc003ibj.2_Missense_Mutation_p.Y87C|CAMK2D_uc003ibk.2_Missense_Mutation_p.Y87C|CAMK2D_uc003ibo.3_Missense_Mutation_p.Y87C|CAMK2D_uc003ibm.2_Missense_Mutation_p.Y87C|CAMK2D_uc003ibn.2_Missense_Mutation_p.Y87C|CAMK2D_uc003ibl.2_Missense_Mutation_p.Y87C	p.Y87C	NM_001221	NP_001212	Q13557	KCC2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000271)	4	1119	-		Ovarian(17;0.00369)|Hepatocellular(203;0.217)	87			Protein kinase.		A8MVS8|Q52PK4|Q59G21|Q8N553|Q9UGH6|Q9UQE9	Missense_Mutation	SNP	ENST00000342666.5	37	c.260A>G	CCDS3703.1	.	.	.	.	.	.	.	.	.	.	T	18.33	3.601028	0.66332	.	.	ENSG00000145349	ENST00000394524;ENST00000454265;ENST00000429180;ENST00000418639;ENST00000394526;ENST00000296402;ENST00000511664;ENST00000342666;ENST00000515496;ENST00000514328;ENST00000394522;ENST00000505990;ENST00000379773;ENST00000508738	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63	5.12	5.12	0.69794	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	U	0.000000	T	0.53449	0.1797	M	0.71206	2.165	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.79108	0.992;0.987;0.987;0.976;0.992	T	0.57230	-0.7847	10	0.66056	D	0.02	.	12.8703	0.57960	0.0:0.0:0.0:1.0	.	87;87;87;87;87	E9PF82;Q13557-3;Q13557-6;Q13557-12;Q13557	.;.;.;.;KCC2D_HUMAN	C	87	ENSP00000378032:Y87C;ENSP00000415248:Y87C;ENSP00000415707:Y87C;ENSP00000406131:Y87C;ENSP00000378034:Y87C;ENSP00000296402:Y87C;ENSP00000425824:Y87C;ENSP00000339740:Y87C;ENSP00000423482:Y87C;ENSP00000423677:Y87C;ENSP00000378030:Y87C;ENSP00000424245:Y87C;ENSP00000369098:Y87C;ENSP00000422566:Y87C	ENSP00000296402:Y87C	Y	-	2	0	CAMK2D	114749772	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.254000	0.72460	1.925000	0.55765	0.482000	0.46254	TAC		0.323	CAMK2D-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256420.2			23	34	0	0	0	0.116897	0	23	34				
SKIV2L2	23517	broad.mit.edu	37	5	54701406	54701406	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr5:54701406G>T	ENST00000230640.5	+	22	2889	c.2635G>T	c.(2635-2637)Gag>Tag	p.E879*	SKIV2L2_ENST00000545714.1_Nonsense_Mutation_p.E778*	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	879					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.E879*(1)		NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				AGTGGCTTGTGAGATAAGCAG	0.318																																					Melanoma(2;92 134 23744 29976 33782)	Melanoma(2;92 134 23744 29976 33782)	uc003jpy.3		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2635-2637)GAG>TAG		superkiller viralicidic activity 2-like 2							132.0	133.0	133.0					5																	54701406		2203	4300	6503	SO:0001587	stop_gained	23517				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr5:54701406G>T	D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.2635G>T	5.37:g.54701406G>T	ENSP00000230640:p.Glu879*					SKIV2L2_uc011cqi.1_Nonsense_Mutation_p.E778*	p.E879*	NM_015360	NP_056175	P42285	SK2L2_HUMAN			22	2901	+		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)	879					Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Nonsense_Mutation	SNP	ENST00000230640.5	37	c.2635G>T	CCDS3967.1	.	.	.	.	.	.	.	.	.	.	G	42	9.360961	0.99148	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	.	.	.	5.95	5.95	0.96441	.	0.107189	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.4651	20.3802	0.98930	0.0:0.0:1.0:0.0	.	.	.	.	X	879;778	.	ENSP00000230640:E879X	E	+	1	0	SKIV2L2	54737163	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.434000	0.97515	2.822000	0.97130	0.563000	0.77884	GAG		0.318	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1			19	94	1	0	1.2644e-06	0.055883	1.37935e-06	19	94				
MAN2A1	4124	broad.mit.edu	37	5	109091091	109091091	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr5:109091091A>G	ENST00000261483.4	+	5	1821	c.769A>G	c.(769-771)Act>Gct	p.T257A		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	257					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)	p.T257A(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TGATGAAGCTACTCCACATTA	0.328																																							uc003kou.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(769-771)ACT>GCT		mannosidase, alpha, class 2A, member 1							136.0	134.0	135.0					5																	109091091		2202	4300	6502	SO:0001583	missense	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109091091A>G		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.769A>G	5.37:g.109091091A>G	ENSP00000261483:p.Thr257Ala						p.T257A	NM_002372	NP_002363	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	5	1732	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	257			Lumenal (Potential).		Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	c.769A>G	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	A	7.485	0.649493	0.14516	.	.	ENSG00000112893	ENST00000261483	T	0.20738	2.05	5.44	1.98	0.26296	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.503455	0.22424	N	0.060254	T	0.09247	0.0228	N	0.16016	0.355	0.09310	N	1	B	0.02656	0.0	B	0.12837	0.008	T	0.28490	-1.0042	10	0.20519	T	0.43	-1.5487	3.5579	0.07871	0.5127:0.0:0.1965:0.2908	.	257	Q16706	MA2A1_HUMAN	A	257	ENSP00000261483:T257A	ENSP00000261483:T257A	T	+	1	0	MAN2A1	109118990	0.059000	0.20769	0.054000	0.19295	0.298000	0.27526	2.175000	0.42491	0.513000	0.28278	0.454000	0.30748	ACT		0.328	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			16	90	0	0	0	0.043863	0	16	90				
CYFIP2	26999	broad.mit.edu	37	5	156787321	156787321	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr5:156787321C>T	ENST00000521420.1	+	24	2862	c.2771C>T	c.(2770-2772)aCa>aTa	p.T924I	CYFIP2_ENST00000522463.1_Missense_Mutation_p.T754I|CYFIP2_ENST00000347377.6_Missense_Mutation_p.T950I|CYFIP2_ENST00000435847.2_Missense_Mutation_p.T649I|CYFIP2_ENST00000377576.3_Missense_Mutation_p.T950I|CYFIP2_ENST00000318218.6_Missense_Mutation_p.T975I|CYFIP2_ENST00000541131.1_Missense_Mutation_p.T875I|CYFIP2_ENST00000442283.2_3'UTR					cytoplasmic FMR1 interacting protein 2									p.T975I(2)|p.T950I(1)		breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TATGTGAAAACACTGATAGAG	0.512																																							uc003lwq.2		NA																	3	Substitution - Missense(3)		lung(3)		0						c.(2848-2850)ACA>ATA		cytoplasmic FMR1 interacting protein 2							162.0	162.0	162.0					5																	156787321		2038	4220	6258	SO:0001583	missense	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156787321C>T	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.2771C>T	5.37:g.156787321C>T	ENSP00000430904:p.Thr924Ile					CYFIP2_uc011ddn.1_Missense_Mutation_p.T924I|CYFIP2_uc011ddo.1_Missense_Mutation_p.T754I|CYFIP2_uc003lwr.2_Missense_Mutation_p.T950I|CYFIP2_uc003lws.2_Missense_Mutation_p.T950I|CYFIP2_uc003lwt.2_Missense_Mutation_p.T853I|CYFIP2_uc011ddp.1_Missense_Mutation_p.T684I	p.T950I	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		27	2987	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	975						Missense_Mutation	SNP	ENST00000521420.1	37	c.2849C>T		.	.	.	.	.	.	.	.	.	.	C	31	5.100258	0.94245	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	T;T;T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98;1.98;1.98	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.47691	0.1459	M	0.75447	2.3	0.80722	D	1	P;P;P;P;P;D	0.54772	0.673;0.892;0.687;0.719;0.766;0.968	B;P;P;B;B;D	0.67900	0.36;0.69;0.544;0.295;0.408;0.954	T	0.25117	-1.0141	10	0.33141	T	0.24	-12.2341	19.5283	0.95215	0.0:1.0:0.0:0.0	.	814;754;924;950;950;975	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	I	975;754;924;950;950;875;649	ENSP00000325817:T975I;ENSP00000428009:T754I;ENSP00000430904:T924I;ENSP00000313567:T950I;ENSP00000366799:T950I;ENSP00000444645:T875I;ENSP00000403793:T649I	ENSP00000325817:T975I	T	+	2	0	CYFIP2	156719899	1.000000	0.71417	0.894000	0.35097	0.954000	0.61252	7.776000	0.85560	2.596000	0.87737	0.655000	0.94253	ACA		0.512	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		16	107	0	0	0	0.0333	0	16	107				
TENM2	57451	broad.mit.edu	37	5	167642247	167642247	+	Missense_Mutation	SNP	G	G	T			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr5:167642247G>T	ENST00000518659.1	+	21	4087	c.4048G>T	c.(4048-4050)Gcc>Tcc	p.A1350S	TENM2_ENST00000545108.1_Missense_Mutation_p.A1349S|TENM2_ENST00000519204.1_Missense_Mutation_p.A1229S|TENM2_ENST00000520394.1_Missense_Mutation_p.A1111S|TENM2_ENST00000403607.2_Missense_Mutation_p.A1174S	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1350					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.A1229S(1)|p.A1183S(1)|p.A1350S(1)									TGGAGGGAAGGCCATAGATGC	0.557																																							uc010jjd.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(6)|central_nervous_system(4)	10						c.(4021-4023)GCC>TCC		odz, odd Oz/ten-m homolog 2							93.0	99.0	97.0					5																	167642247		1968	4157	6125	SO:0001583	missense	57451							g.chr5:167642247G>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.4048G>T	5.37:g.167642247G>T	ENSP00000429430:p.Ala1350Ser					ODZ2_uc003lzr.3_Missense_Mutation_p.A1111S|ODZ2_uc003lzt.3_Missense_Mutation_p.A714S|ODZ2_uc010jje.2_Missense_Mutation_p.A605S	p.A1341S	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	21	4021	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.4021G>T		.	.	.	.	.	.	.	.	.	.	G	20.3	3.969248	0.74246	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.96459	-3.56;-3.4;-3.66;-3.74;-4.02	5.04	5.04	0.67666	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.98280	0.9430	M	0.92317	3.295	0.58432	D	0.999996	P;B;B	0.34826	0.471;0.34;0.144	P;B;B	0.50405	0.64;0.286;0.082	D	0.99853	1.1074	10	0.87932	D	0	.	18.4035	0.90525	0.0:0.0:1.0:0.0	.	1349;1350;1111	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	S	1350;1349;1229;1111;1174	ENSP00000429430:A1350S;ENSP00000438635:A1349S;ENSP00000428964:A1229S;ENSP00000427874:A1111S;ENSP00000384905:A1174S	ENSP00000384905:A1174S	A	+	1	0	ODZ2	167574825	1.000000	0.71417	0.999000	0.59377	0.181000	0.23173	9.869000	0.99810	2.332000	0.79248	0.655000	0.94253	GCC		0.557	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		3	60	1	0	0.004672	0.115264	0.00500571	3	60				
FERD3L	222894	broad.mit.edu	37	7	19184591	19184591	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr7:19184591G>A	ENST00000275461.3	-	1	453	c.395C>T	c.(394-396)gCt>gTt	p.A132V	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	132	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A132V(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						TTTCTCGTAAGCAAACGTGGG	0.582																																							uc003suo.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(394-396)GCT>GTT		nephew of atonal 3							127.0	96.0	107.0					7																	19184591		2203	4300	6503	SO:0001583	missense	222894				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:19184591G>A	AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"""Basic helix-loop-helix proteins"""	16660	protein-coding gene	gene with protein product			"""Fer3-like (Drosophila)"""			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.395C>T	7.37:g.19184591G>A	ENSP00000275461:p.Ala132Val					uc003sun.1_RNA	p.A132V	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN			1	454	-			132			Helix-loop-helix motif.		Q495K0	Missense_Mutation	SNP	ENST00000275461.3	37	c.395C>T	CCDS5368.1	.	.	.	.	.	.	.	.	.	.	G	34	5.342570	0.95783	.	.	ENSG00000146618	ENST00000275461	D	0.98249	-4.82	5.66	5.66	0.87406	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.98277	0.9429	L	0.37697	1.125	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.99870	1.1095	10	0.66056	D	0.02	-22.8177	19.751	0.96268	0.0:0.0:1.0:0.0	.	132	Q96RJ6	FER3L_HUMAN	V	132	ENSP00000275461:A132V	ENSP00000275461:A132V	A	-	2	0	FERD3L	19151116	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	9.869000	0.99810	2.693000	0.91896	0.650000	0.86243	GCT		0.582	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207627.1			12	124	0	0	0	0.09319	0	12	124				
ZMIZ2	83637	broad.mit.edu	37	7	44806175	44806175	+	Silent	SNP	G	G	A	rs367786546		TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr7:44806175G>A	ENST00000309315.4	+	18	2691	c.2568G>A	c.(2566-2568)acG>acA	p.T856T	ZMIZ2_ENST00000441627.1_Silent_p.T856T|ZMIZ2_ENST00000463931.1_3'UTR|ZMIZ2_ENST00000413916.1_Silent_p.T798T|ZMIZ2_ENST00000433667.1_Silent_p.T824T|ZMIZ2_ENST00000265346.7_Silent_p.T830T	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	856	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)	p.T856T(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TAGGACCTACGGGTGAACTGG	0.662																																					NSCLC(20;604 852 1948 16908 50522)	NSCLC(20;604 852 1948 16908 50522)	uc003tlr.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(2)|breast(1)	5						c.(2566-2568)ACG>ACA		zinc finger, MIZ-type containing 2 isoform 1		G	,	0,3760		0,0,1880	41.0	45.0	44.0		2568,2490	-2.7	0.0	7		44	1,8237		0,1,4118	no	coding-synonymous,coding-synonymous	ZMIZ2	NM_031449.3,NM_174929.2	,	0,1,5998	AA,AG,GG		0.0121,0.0,0.0083	,	856/921,830/895	44806175	1,11997	1880	4119	5999	SO:0001819	synonymous_variant	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44806175G>A	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.2568G>A	7.37:g.44806175G>A						ZMIZ2_uc003tlq.2_Silent_p.T798T|ZMIZ2_uc003tls.2_Silent_p.T830T|ZMIZ2_uc003tlt.2_Silent_p.T479T|ZMIZ2_uc010kyj.2_Silent_p.T378T|ZMIZ2_uc003tlu.2_Silent_p.T137T|ZMIZ2_uc010kyk.1_5'Flank	p.T856T	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN			18	2691	+			856			Pro-rich.		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Silent	SNP	ENST00000309315.4	37	c.2568G>A	CCDS43576.1																																																																																				0.662	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		23	63	0	0	0	0.083992	0	23	63				
CUX1	1523	broad.mit.edu	37	7	101801866	101801866	+	Missense_Mutation	SNP	C	C	T	rs372003626		TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr7:101801866C>T	ENST00000292535.7	+	9	739	c.701C>T	c.(700-702)aCg>aTg	p.T234M	CUX1_ENST00000360264.3_Missense_Mutation_p.T245M|CUX1_ENST00000425244.2_Missense_Mutation_p.T199M|CUX1_ENST00000556210.1_Missense_Mutation_p.T234M|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000292538.4_Missense_Mutation_p.T245M|CUX1_ENST00000547394.2_Missense_Mutation_p.T229M|CUX1_ENST00000393824.3_Missense_Mutation_p.T208M|CUX1_ENST00000550008.2_Missense_Mutation_p.T234M|CUX1_ENST00000546411.2_Missense_Mutation_p.T234M|CUX1_ENST00000549414.2_Missense_Mutation_p.T234M|CUX1_ENST00000437600.4_Missense_Mutation_p.T245M	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	234					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.T245M(1)|p.T234M(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						ATGATCATGACGGACCTTGAA	0.562																																							uc003uyx.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(700-702)ACG>ATG		cut-like homeobox 1 isoform a		C	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	93.0	84.0	87.0		734,686,596,623,734,734,701	5.3	1.0	7		87	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense	CUX1	NM_001202543.1,NM_001202544.1,NM_001202545.1,NM_001202546.1,NM_001913.3,NM_181500.2,NM_181552.3	81,81,81,81,81,81,81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	245/1517,229/663,199/633,208/640,245/679,245/677,234/1506	101801866	1,13005	2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101801866C>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.701C>T	7.37:g.101801866C>T	ENSP00000292535:p.Thr234Met					CUX1_uc003uys.3_Missense_Mutation_p.T245M|CUX1_uc003uyt.2_Missense_Mutation_p.T245M|CUX1_uc011kkn.1_Missense_Mutation_p.T208M|CUX1_uc003uyw.2_Missense_Mutation_p.T199M|CUX1_uc003uyv.2_Missense_Mutation_p.T229M|CUX1_uc003uyu.2_Missense_Mutation_p.T245M	p.T234M	NM_181552	NP_853530	P39880	CUX1_HUMAN			9	739	+			234			Potential.		B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.701C>T	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.175269	0.57692	2.27E-4	0.0	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000360264;ENST00000425244;ENST00000437600;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;2.26;1.0;0.97;0.97;0.97;0.97;0.97	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.58538	0.2129	L	0.48642	1.525	0.53688	D	0.999973	D;D;D;D;D;P;D	0.89917	0.997;1.0;0.993;0.963;0.999;0.954;1.0	P;D;P;P;P;P;D	0.83275	0.763;0.99;0.776;0.569;0.888;0.572;0.996	T	0.60347	-0.7281	10	0.72032	D	0.01	-28.5969	15.7184	0.77688	0.0:1.0:0.0:0.0	.	208;234;199;229;245;245;245	B4DZZ2;P39880;B3KV79;G3V1Z6;Q13948-2;Q13948;P39880-3	.;CUX1_HUMAN;.;.;.;CASP_HUMAN;.	M	245;229;245;199;245;234;234;234;234;234	ENSP00000292538:T245M;ENSP00000449371:T229M;ENSP00000353401:T245M;ENSP00000409745:T199M;ENSP00000414091:T245M;ENSP00000292535:T234M;ENSP00000446630:T234M;ENSP00000447373:T234M;ENSP00000450125:T234M;ENSP00000451558:T234M	ENSP00000292535:T234M	T	+	2	0	CUX1	101588586	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.995000	0.63908	2.484000	0.83849	0.563000	0.77884	ACG		0.562	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		3	54	0	0	0	0.009096	0	3	54				
LAMB1	3912	broad.mit.edu	37	7	107626714	107626714	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr7:107626714G>A	ENST00000222399.6	-	6	748	c.518C>T	c.(517-519)tCg>tTg	p.S173L	LAMB1_ENST00000393560.1_Missense_Mutation_p.S173L|LAMB1_ENST00000393561.1_Missense_Mutation_p.S197L	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	173	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)	p.S173L(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						GCCTGGAAACGAGGCCTCACA	0.453																																							uc003vew.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8						c.(517-519)TCG>TTG		laminin, beta 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						108.0	105.0	106.0					7																	107626714		2203	4300	6503	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107626714G>A	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.518C>T	7.37:g.107626714G>A	ENSP00000222399:p.Ser173Leu					LAMB1_uc003vev.2_Missense_Mutation_p.S197L|LAMB1_uc003vex.2_Missense_Mutation_p.S173L|LAMB1_uc010ljn.1_Missense_Mutation_p.S259L	p.S173L	NM_002291	NP_002282	P07942	LAMB1_HUMAN			6	853	-			173			Laminin N-terminal.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.518C>T	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.985525	0.35036	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	T;T;T	0.76316	-1.01;-1.01;-1.01	5.86	5.86	0.93980	Laminin, N-terminal (3);	.	.	.	.	D	0.83622	0.5294	L	0.60012	1.86	0.58432	D	0.999998	D;B;D	0.62365	0.98;0.024;0.991	P;B;P	0.54629	0.757;0.023;0.643	T	0.82070	-0.0639	9	0.41790	T	0.15	.	20.1916	0.98230	0.0:0.0:1.0:0.0	.	173;173;197	E7EPA6;P07942;G3XAI2	.;LAMB1_HUMAN;.	L	197;173;173	ENSP00000377191:S197L;ENSP00000222399:S173L;ENSP00000377190:S173L	ENSP00000222399:S173L	S	-	2	0	LAMB1	107413950	1.000000	0.71417	0.959000	0.39883	0.432000	0.31715	6.798000	0.75155	2.770000	0.95276	0.655000	0.94253	TCG		0.453	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		6	106	0	0	0	0.038147	0	6	106				
SLC24A2	25769	broad.mit.edu	37	9	19786259	19786259	+	Silent	SNP	G	G	A	rs147285634		TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr9:19786259G>A	ENST00000341998.2	-	1	667	c.606C>T	c.(604-606)aaC>aaT	p.N202N	SLC24A2_ENST00000286344.3_Silent_p.N202N	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	202					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)	p.N202N(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		CTATGCCAACGTTGCTGTGAG	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		21049	0.001		0.0	False		,,,				2504	0.0						uc003zoa.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(604-606)AAC>AAT		solute carrier family 24							95.0	91.0	93.0					9																	19786259		2203	4300	6503	SO:0001819	synonymous_variant	25769				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr9:19786259G>A	AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"""Solute carriers"""	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.606C>T	9.37:g.19786259G>A						SLC24A2_uc003zob.1_Silent_p.N202N	p.N202N	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN		GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)	1	668	-			202			Extracellular (Potential).|Alpha-1.		B7ZLL8|Q9NTN5|Q9NZQ4	Silent	SNP	ENST00000341998.2	37	c.606C>T	CCDS6493.1																																																																																				0.463	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344		20	55	0	0	0	0.069288	0	20	55				
CDKN2A	1029	broad.mit.edu	37	9	21971077	21971077	+	Missense_Mutation	SNP	A	A	G			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr9:21971077A>G	ENST00000304494.5	-	2	551	c.281T>C	c.(280-282)cTg>cCg	p.L94P	CDKN2A_ENST00000446177.1_Missense_Mutation_p.L94P|CDKN2A_ENST00000361570.3_Silent_p.A149A|CDKN2A_ENST00000497750.1_Missense_Mutation_p.L43P|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Missense_Mutation_p.L43P|CDKN2A_ENST00000578845.2_Missense_Mutation_p.L43P|CDKN2A_ENST00000494262.1_Missense_Mutation_p.L43P|CDKN2A_ENST00000579755.1_Silent_p.A108A|CDKN2A_ENST00000498628.2_Missense_Mutation_p.L43P|CDKN2A_ENST00000530628.2_Silent_p.A108A|CDKN2A_ENST00000498124.1_Missense_Mutation_p.L94P|CDKN2A_ENST00000579122.1_Missense_Mutation_p.L94P	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	94			L -> Q (in CMM2). {ECO:0000269|PubMed:14646619}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.L94P(2)|p.H83fs*2(2)|p.E61_L94del(1)|p.0(1)|p.L94fs*52(1)|p.T93_D105del(1)|p.G150fs*25(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.A149A(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGCACCACCAGCGTGTCCAG	0.741		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																													uc003zpk.2		17																	1371	Whole gene deletion(1316)|Unknown(44)|Deletion - Frameshift(6)|Deletion - In frame(2)|Substitution - Missense(2)|Substitution - coding silent(1)	p.0?(1112)|p.?(13)|p.H83fs*2(2)|p.E61_L94del(1)|p.L94fs*52(1)|p.T93_D105del(1)|p.R137fs*48(1)|p.A68fs*3(1)	haematopoietic_and_lymphoid_tissue(283)|skin(174)|central_nervous_system(167)|lung(148)|urinary_tract(91)|bone(74)|soft_tissue(57)|upper_aerodigestive_tract(53)|oesophagus(52)|pleura(51)|ovary(36)|kidney(32)|breast(32)|pancreas(30)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CM035015	CDKN2A	M		c.(280-282)CTG>CCG		cyclin-dependent kinase inhibitor 2A isoform 1							14.0	17.0	16.0					9																	21971077		2169	4256	6425	SO:0001583	missense	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971077A>G	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.281T>C	9.37:g.21971077A>G	ENSP00000307101:p.Leu94Pro	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Silent_p.A149A	p.L94P	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	493	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	94		L -> Q (in CMM2).	ANK 3.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.281T>C	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.757369	0.89843	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	T;T	0.67345	-0.26;-0.26	5.93	5.93	0.95920	Ankyrin repeat-containing domain (4);	.	.	.	.	D	0.82582	0.5068	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84861	0.0819	8	0.72032	D	0.01	-8.3593	15.3697	0.74554	1.0:0.0:0.0:0.0	.	94	P42771	CD2A1_HUMAN	P	94	ENSP00000307101:L94P;ENSP00000394932:L94P	ENSP00000307101:L94P	L	-	2	0	CDKN2A	21961077	0.879000	0.30193	0.897000	0.35233	0.883000	0.51084	6.392000	0.73213	2.265000	0.75225	0.533000	0.62120	CTG		0.741	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		4	15	0	0	0	0.021553	0	4	15				
C9orf3	84909	broad.mit.edu	37	9	97522766	97522766	+	Missense_Mutation	SNP	C	C	T			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr9:97522766C>T	ENST00000375315.2	+	1	701	c.701C>T	c.(700-702)gCt>gTt	p.A234V	C9orf3_ENST00000277198.2_Missense_Mutation_p.A234V|C9orf3_ENST00000297979.5_Missense_Mutation_p.A234V	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	234					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A234V(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		AAGACAGGGGCTCAGACAGCT	0.517																																							uc004ava.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(700-702)GCT>GTT		aminopeptidase O							60.0	54.0	56.0					9																	97522766		2203	4300	6503	SO:0001583	missense	84909				leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr9:97522766C>T	AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.701C>T	9.37:g.97522766C>T	ENSP00000364464:p.Ala234Val					C9orf3_uc011lui.1_RNA|C9orf3_uc004aux.1_Missense_Mutation_p.A234V|C9orf3_uc004auy.2_Missense_Mutation_p.A234V|C9orf3_uc004auz.1_Missense_Mutation_p.A234V	p.A234V	NM_032823	NP_116212	Q8N6M6	AMPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.000275)	1	836	+			234					Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	ENST00000375315.2	37	c.701C>T	CCDS55328.1	.	.	.	.	.	.	.	.	.	.	C	3.883	-0.025504	0.07589	.	.	ENSG00000148120	ENST00000277198;ENST00000297979;ENST00000375315;ENST00000427193;ENST00000424143;ENST00000428313	T;T;T;T;T;T	0.04234	3.67;3.67;3.67;3.67;3.67;3.67	4.79	-0.25	0.13007	.	0.586549	0.16541	N	0.209922	T	0.01387	0.0045	N	0.00823	-1.155	0.24732	N	0.993088	B;B;B;B	0.17268	0.001;0.021;0.001;0.001	B;B;B;B	0.20955	0.004;0.032;0.002;0.002	T	0.49041	-0.8980	10	0.10377	T	0.69	-0.0242	8.3154	0.32097	0.0:0.3536:0.0:0.6464	.	234;234;234;234	Q8N6M6;Q8N6M6-4;Q8N6M6-2;Q8N6M6-3	AMPO_HUMAN;.;.;.	V	234;234;234;108;57;16	ENSP00000277198:A234V;ENSP00000297979:A234V;ENSP00000364464:A234V;ENSP00000387736:A108V;ENSP00000402171:A57V;ENSP00000401854:A16V	ENSP00000277198:A234V	A	+	2	0	C9orf3	96562587	0.326000	0.24669	0.996000	0.52242	0.964000	0.63967	1.827000	0.39102	0.057000	0.16193	-0.373000	0.07131	GCT		0.517	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032823		7	18	0	0	0	0.02938	0	7	18				
TGIF2LX	90316	broad.mit.edu	37	X	89177431	89177431	+	Missense_Mutation	SNP	G	G	A			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chrX:89177431G>A	ENST00000561129.2	+	1	477	c.347G>A	c.(346-348)cGt>cAt	p.R116H	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.R116H			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	116					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R116H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CTTCAACAGCGTAGAAACGAC	0.522																																							uc004efe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(346-348)CGT>CAT		TGFB-induced factor homeobox 2-like, X-linked							68.0	65.0	66.0					X																	89177431		2203	4297	6500	SO:0001583	missense	90316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:89177431G>A	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.347G>A	X.37:g.89177431G>A	ENSP00000453704:p.Arg116His						p.R116H	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN			2	396	+			116					Q5JRM9|Q8TD48	Missense_Mutation	SNP	ENST00000561129.2	37	c.347G>A	CCDS14459.1	.	.	.	.	.	.	.	.	.	.	g	7.497	0.651898	0.14516	.	.	ENSG00000153779	ENST00000283891	D	0.83837	-1.77	2.65	-5.31	0.02730	Homeodomain-related (1);Homeodomain-like (1);	.	.	.	.	T	0.61413	0.2345	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46176	-0.9210	8	.	.	.	-6.7067	6.6681	0.23054	0.4806:0.4166:0.1028:0.0	.	116	Q8IUE1	TF2LX_HUMAN	H	116	ENSP00000355119:R116H	.	R	+	2	0	TGIF2LX	89064087	0.421000	0.25465	0.000000	0.03702	0.000000	0.00434	0.646000	0.24797	-1.490000	0.01842	-2.584000	0.00167	CGT		0.522	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	NM_138960		25	78	0	0	0	0.054565	0	25	78				
SAGE1	55511	broad.mit.edu	37	X	134987534	134987534	+	Missense_Mutation	SNP	T	T	C			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chrX:134987534T>C	ENST00000370709.3	+	4	437	c.437T>C	c.(436-438)aTg>aCg	p.M146T	SAGE1_ENST00000535938.1_Missense_Mutation_p.M146T|SAGE1_ENST00000324447.3_Missense_Mutation_p.M146T|SAGE1_ENST00000537770.1_Missense_Mutation_p.M146T			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	146						nucleus (GO:0005634)		p.M146T(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					ATTCCATCCATGAGTACCAGG	0.423																																							uc004ezh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(436-438)ATG>ACG		sarcoma antigen 1							174.0	121.0	139.0					X																	134987534		2203	4300	6503	SO:0001583	missense	55511							g.chrX:134987534T>C	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.437T>C	X.37:g.134987534T>C	ENSP00000359743:p.Met146Thr					SAGE1_uc010nry.1_Missense_Mutation_p.M115T|SAGE1_uc011mvv.1_Missense_Mutation_p.M146T	p.M146T	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN			5	604	+	Acute lymphoblastic leukemia(192;0.000127)		146					Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	37	c.437T>C	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	T	8.827	0.939041	0.18281	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.37411	1.56;1.56;1.2;1.56	0.744	0.744	0.18353	.	0.157646	0.41194	U	0.000937	T	0.22126	0.0533	L	0.29908	0.895	0.09310	N	1	B;B	0.29162	0.235;0.119	B;B	0.32289	0.143;0.067	T	0.16867	-1.0388	9	0.21540	T	0.41	.	.	.	.	.	146;146	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	T	146	ENSP00000323191:M146T;ENSP00000445959:M146T;ENSP00000438276:M146T;ENSP00000359743:M146T	ENSP00000323191:M146T	M	+	2	0	SAGE1	134815200	0.000000	0.05858	0.026000	0.17262	0.126000	0.20510	0.103000	0.15292	0.524000	0.28502	0.235000	0.17854	ATG		0.423	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		6	109	0	0	0	0.021553	0	6	109				
TKTL1	8277	broad.mit.edu	37	X	153553709	153553709	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chrX:153553709C>T	ENST00000369915.3	+	10	1531	c.1342C>T	c.(1342-1344)Cga>Tga	p.R448*	TKTL1_ENST00000217905.7_Nonsense_Mutation_p.R188*|TKTL1_ENST00000369912.2_Nonsense_Mutation_p.R392*	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	448					glucose catabolic process (GO:0006007)|thiamine metabolic process (GO:0006772)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.R448*(1)		NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCGGACCACCCGACCAGAAAC	0.468																																							uc004fkg.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1342-1344)CGA>TGA		transketolase-like 1 isoform a							165.0	128.0	141.0					X																	153553709		2203	4300	6503	SO:0001587	stop_gained	8277				glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity	g.chrX:153553709C>T	X91817	CCDS35448.1, CCDS55541.1	Xq28	2008-02-05			ENSG00000007350	ENSG00000007350			11835	protein-coding gene	gene with protein product		300044				8838793	Standard	NM_012253		Approved	TKR, TKT2	uc004fkg.3	P51854	OTTHUMG00000022707	ENST00000369915.3:c.1342C>T	X.37:g.153553709C>T	ENSP00000358931:p.Arg448*					TKTL1_uc011mzl.1_Nonsense_Mutation_p.R442*|TKTL1_uc011mzm.1_Nonsense_Mutation_p.R244*|TKTL1_uc004fkh.2_Nonsense_Mutation_p.R392*	p.R448*	NM_012253	NP_036385	P51854	TKTL1_HUMAN			10	1528	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		448					A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Nonsense_Mutation	SNP	ENST00000369915.3	37	c.1342C>T	CCDS35448.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.082922	0.76642	.	.	ENSG00000007350	ENST00000369915;ENST00000441970;ENST00000217905;ENST00000369912	.	.	.	4.82	2.89	0.33648	.	0.261766	0.36854	N	0.002366	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.8591	8.6232	0.33872	0.1628:0.7418:0.0:0.0954	.	.	.	.	X	448;392;188;392	.	ENSP00000217905:R188X	R	+	1	2	TKTL1	153206903	0.978000	0.34361	0.148000	0.22405	0.537000	0.34900	0.540000	0.23191	1.048000	0.40298	0.292000	0.19580	CGA		0.468	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058923.1	NM_012253		21	84	0	0	0	0.069288	0	21	84				
HAX1	10456	broad.mit.edu	37	1	154245864	154245866	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	GAA	GAA	-	-	GAA	GAA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr1:154245864_154245866delGAA	ENST00000328703.7	+	2	319_321	c.106_108delGAA	c.(106-108)gaadel	p.E40del	HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000457918.2_Intron|HAX1_ENST00000532105.1_Intron	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	40	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria. {ECO:0000250}.				cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATGATGAGGAAGAAGAAGAAG	0.522									Kostmann syndrome																														uc001fes.2		NA																	0					0						c.(106-108)GAAdel		HCLS1 associated protein X-1 isoform a			,	145,4121		1,143,1989					,	-10.8	0.2			60	303,7951		0,303,3824	no	coding,intron	HAX1	NM_006118.3,NM_001018837.1	,	1,446,5813	A1A1,A1R,RR		3.6709,3.399,3.5783	,	,		448,12072				SO:0001651	inframe_deletion	10456	Kostmann_syndrome	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis		actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding	g.chr1:154245864_154245866delGAA	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"""HCLS1 (and PKD2) associated protein"""	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.106_108delGAA	1.37:g.154245873_154245875delGAA	ENSP00000329002:p.Glu40del					HAX1_uc001fet.2_Intron|HAX1_uc010peo.1_In_Frame_Del_p.E40del|HAX1_uc009wou.2_5'UTR|HAX1_uc009wov.2_In_Frame_Del_p.E14del	p.E40del	NM_006118	NP_006109	O00165	HAX1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		2	267_269	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		40			Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).		A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	In_Frame_Del	DEL	ENST00000328703.7	37	c.106_108delGAA	CCDS1064.1																																																																																				0.522	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087650.1	NM_006118		7	82	NA	NA	NA	NA	NA	7	82	---	---	---	---
CYP4F2	8529	broad.mit.edu	37	19	15996864	15996865	+	Splice_Site	INS	-	-	T			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr19:15996864_15996865insT	ENST00000221700.6	-	9	1081		c.e9-1		CYP4F2_ENST00000011989.7_Splice_Site	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GTGTCATGGCCTGGGGGGCAGC	0.629																																							uc002nbs.1		NA																	0				ovary(1)|skin(1)	2						c.e9-1		cytochrome P450, family 4, subfamily F,																																				SO:0001630	splice_region_variant	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:15996864_15996865insT	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.986-1->A	19.37:g.15996865_15996865dupT						CYP4F2_uc010xot.1_Splice_Site_p.G180_splice|CYP4F2_uc010xou.1_Intron	p.G329_splice	NM_001082	NP_001073	P78329	CP4F2_HUMAN			9	1036	-									Splice_Site	INS	ENST00000221700.6	37	c.986_splice	CCDS12336.1																																																																																				0.629	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082	Intron	19	66	NA	NA	NA	NA	NA	19	66	---	---	---	---
PTPN23	25930	broad.mit.edu	37	3	47452143	47452144	+	In_Frame_Ins	INS	-	-	GCCCCA	rs552397269	byFrequency	TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chr3:47452143_47452144insGCCCCA	ENST00000265562.4	+	20	2932_2933	c.2855_2856insGCCCCA	c.(2854-2859)gggccc>ggGCCCCAgccc	p.957_958insQP	PTPN23_ENST00000431726.1_In_Frame_Ins_p.831_832insQP	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	957	6 X 2 AA approximate tandem repeats of P- Q.|His.|Pro-rich.				cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCAAGGATTGGgccccagcccc	0.634																																							uc003crf.1		NA																	0				breast(1)|central_nervous_system(1)|skin(1)	3						c.(2854-2856)GGG>GGGCCCCAG		protein tyrosine phosphatase, non-receptor type																																				SO:0001652	inframe_insertion	25930				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	g.chr3:47452143_47452144insGCCCCA	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.2868_2873dupGCCCCA	3.37:g.47452144_47452149dupGCCCCA	ENSP00000265562:p.Gln956_Pro957dup					PTPN23_uc011baw.1_In_Frame_Ins_p.921_922insPQ|PTPN23_uc011bax.1_Intron|PTPN23_uc011bay.1_In_Frame_Ins_p.826_827insPQ	p.956_957insPQ	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	20	2951_2952	+			956_957			3.|6 X 2 AA approximate tandem repeats of P- Q.|Pro-rich.|His.		A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	In_Frame_Ins	INS	ENST00000265562.4	37	c.2855_2856insGCCCCA	CCDS2754.1																																																																																				0.634	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		5	6	NA	NA	NA	NA	NA	5	6	---	---	---	---
BHLHB9	80823	broad.mit.edu	37	X	102004419	102004421	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-44-5645-01A-01D-1625-08	TCGA-44-5645-10A-01D-1625-08	GAG	GAG	-	-	GAG	GAG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	dac33765-0c88-4a51-8389-c042ccb78c83	7f4b8638-3af7-4e03-b4c3-0a46afb3e2f7	g.chrX:102004419_102004421delGAG	ENST00000372735.1	+	4	1081_1083	c.496_498delGAG	c.(496-498)gagdel	p.E171del	BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	171	Poly-Glu.				learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTCAGGGGCTGAGGAGGAGGAGG	0.488																																							uc010nog.2		NA																	0				ovary(2)	2						c.(496-498)GAGdel		basic helix-loop-helix domain containing, class																																				SO:0001651	inframe_deletion	80823					cytoplasm|nucleus	binding	g.chrX:102004419_102004421delGAG	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"""Basic helix-loop-helix proteins"", ""Armadillo repeat containing"""	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.496_498delGAG	X.37:g.102004428_102004430delGAG	ENSP00000361820:p.Glu171del					BHLHB9_uc011mrq.1_In_Frame_Del_p.E171del|BHLHB9_uc011mrr.1_In_Frame_Del_p.E171del|BHLHB9_uc011mrs.1_In_Frame_Del_p.E171del|BHLHB9_uc011mrt.1_In_Frame_Del_p.E171del|BHLHB9_uc004ejo.2_In_Frame_Del_p.E171del|BHLHB9_uc011mru.1_In_Frame_Del_p.E171del|BHLHB9_uc011mrv.1_In_Frame_Del_p.E171del	p.E171del	NM_001142526	NP_001135998	Q6PI77	BHLH9_HUMAN			4	1067_1069	+			171			Poly-Glu.		Q9C0G2	In_Frame_Del	DEL	ENST00000372735.1	37	c.496_498delGAG	CCDS14502.1																																																																																				0.488	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		8	195	NA	NA	NA	NA	NA	8	195	---	---	---	---
