#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
IKZF5	64376	broad.mit.edu	37	10	124755532	124755532	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr10:124755532A>C	ENST00000368886.5	-	4	614	c.294T>G	c.(292-294)atT>atG	p.I98M	PSTK_ENST00000497219.1_Intron|IKZF5_ENST00000479103.1_5'Flank	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN	IKAROS family zinc finger 5 (Pegasus)	98					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		TGATGTGTTCAATAAGCCGGG	0.483																																						ENST00000368886.5																			0				endometrium(2)|lung(3)|prostate(1)	6						c.(292-294)atT>atG		IKAROS family zinc finger 5 (Pegasus)							145.0	144.0	144.0					10																	124755532		1890	4109	5999	SO:0001583	missense	64376				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:124755532A>C	AF230808	CCDS41574.1	10q26	2011-05-31	2006-08-25	2006-08-25	ENSG00000095574	ENSG00000095574		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	14283	protein-coding gene	gene with protein product		606238	"""zinc finger protein, subfamily 1A, 5"", ""zinc finger protein, subfamily 1A, 5 (Pegasus)"""	ZNFN1A5		10978333	Standard	NM_001271840		Approved	Pegasus, FLJ22973	uc021qaj.2	Q9H5V7	OTTHUMG00000019192	ENST00000368886.5:c.294T>G	10.37:g.124755532A>C	ENSP00000357881:p.Ile98Met					PSTK_ENST00000497219.1_Intron	p.I98M	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)	4	614	-		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)	98					B3KVH7|D3DRE7|Q9H2T0	Missense_Mutation	SNP	ENST00000368886.5	37	c.294T>G	CCDS41574.1	.	.	.	.	.	.	.	.	.	.	A	16.36	3.101021	0.56183	.	.	ENSG00000095574	ENST00000368886	T	0.35973	1.28	5.87	-9.06	0.00727	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.044474	0.85682	D	0.000000	T	0.35038	0.0918	L	0.27975	0.815	0.43029	D	0.994599	D	0.89917	1.0	D	0.91635	0.999	T	0.62728	-0.6793	10	0.26408	T	0.33	-14.4248	13.6332	0.62206	0.2228:0.0:0.6433:0.1339	.	98	Q9H5V7	IKZF5_HUMAN	M	98	ENSP00000357881:I98M	ENSP00000357881:I98M	I	-	3	3	IKZF5	124745522	0.059000	0.20769	0.747000	0.31113	0.989000	0.77384	-0.714000	0.05002	-1.326000	0.02266	-0.290000	0.09829	ATT		0.483	IKZF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050820.2	NM_022466		5	80	0	0	0	1	0	5	80				
TP53	7157	broad.mit.edu	37	17	7577547	7577547	+	Missense_Mutation	SNP	C	C	T	rs121912656|rs397516437		TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr17:7577547C>T	ENST00000269305.4	-	7	923	c.734G>A	c.(733-735)gGc>gAc	p.G245D	TP53_ENST00000420246.2_Missense_Mutation_p.G245D|TP53_ENST00000359597.4_Missense_Mutation_p.G245D|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.G245D|TP53_ENST00000413465.2_Missense_Mutation_p.G245D|TP53_ENST00000455263.2_Missense_Mutation_p.G245D	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	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		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.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)	CCGGTTCATGCCGCCCATGCA	0.582		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)	ENST00000420246.2		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"""		219	Substitution - Missense(191)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)	p.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(37)|lung(32)|oesophagus(23)|breast(22)|ovary(18)|upper_aerodigestive_tract(16)|haematopoietic_and_lymphoid_tissue(15)|liver(9)|prostate(7)|stomach(6)|central_nervous_system(6)|skin(6)|biliary_tract(5)|urinary_tract(5)|bone(5)|pancreas(4)|cervix(1)|vulva(1)|endometrium(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	GRCh37	CM010464|CM900209	TP53	M	rs121912656	c.(733-735)gGc>gAc	Other conserved DNA damage response genes	tumor protein p53							151.0	113.0	126.0					17																	7577547		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577547C>T	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.734G>A	17.37:g.7577547C>T	ENSP00000269305:p.Gly245Asp	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_ENST00000455263.2_Missense_Mutation_p.G245D|TP53_ENST00000445888.2_Missense_Mutation_p.G245D|TP53_ENST00000269305.4_Missense_Mutation_p.G245D|TP53_ENST00000413465.2_Missense_Mutation_p.G245D|TP53_ENST00000359597.4_Missense_Mutation_p.G245D	p.G245D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	866	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.734G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838149	0.91117	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99898	0.9951	M	0.91920	3.255	0.80722	A	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;1.0;1.0	D	0.96045	0.9027	9	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	.	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	D	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245D;ENSP00000352610:G245D;ENSP00000269305:G245D;ENSP00000398846:G245D;ENSP00000391127:G245D;ENSP00000391478:G245D;ENSP00000425104:G113D;ENSP00000423862:G152D	ENSP00000269305:G245D	G	-	2	0	TP53	7518272	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		4	81	0	0	0	1	0	4	81				
GRIK1	2897	broad.mit.edu	37	21	31066220	31066220	+	Missense_Mutation	SNP	C	C	T	rs375169701		TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr21:31066220C>T	ENST00000399907.1	-	2	692	c.281G>A	c.(280-282)cGg>cAg	p.R94Q	GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399914.1_Missense_Mutation_p.R94Q|GRIK1_ENST00000399909.1_Missense_Mutation_p.R94Q|GRIK1_ENST00000309434.7_Missense_Mutation_p.R94Q|GRIK1_ENST00000389125.3_Missense_Mutation_p.R94Q|GRIK1_ENST00000327783.4_Missense_Mutation_p.R94Q|GRIK1_ENST00000399913.1_Missense_Mutation_p.R94Q|GRIK1_ENST00000389124.2_Missense_Mutation_p.R94Q|GRIK1_ENST00000535441.1_Missense_Mutation_p.R94Q	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	94					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	GTTACCTCTCCGCGAGGCTTC	0.433																																						ENST00000399914.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45						c.(280-282)cGg>cAg		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)	C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	109.0	107.0	108.0		281,281	4.2	1.0	21		108	0,8600		0,0,4300	no	missense,missense	GRIK1	NM_000830.3,NM_175611.2	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	94/919,94/906	31066220	1,13005	2203	4300	6503	SO:0001583	missense	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:31066220C>T		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.281G>A	21.37:g.31066220C>T	ENSP00000382791:p.Arg94Gln					GRIK1_ENST00000309434.7_Missense_Mutation_p.R94Q|GRIK1_ENST00000389124.2_Missense_Mutation_p.R94Q|GRIK1_ENST00000389125.3_Missense_Mutation_p.R94Q|GRIK1_ENST00000327783.4_Missense_Mutation_p.R94Q|GRIK1_ENST00000399913.1_Missense_Mutation_p.R94Q|GRIK1_ENST00000399907.1_Missense_Mutation_p.R94Q|GRIK1_ENST00000535441.1_Missense_Mutation_p.R94Q|GRIK1_ENST00000399909.1_Missense_Mutation_p.R94Q|GRIK1_ENST00000472429.1_5'UTR	p.R94Q			P39086	GRIK1_HUMAN			2	802	-			94					Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	c.281G>A	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287780	0.80803	2.27E-4	0.0	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	D;D;D;D;D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6;-1.6	5.13	4.25	0.50352	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.80727	0.4678	L	0.35723	1.085	0.58432	D	0.999998	D;D;P;D	0.55800	0.973;0.973;0.951;0.967	P;P;P;B	0.49276	0.605;0.605;0.509;0.375	T	0.82608	-0.0373	10	0.66056	D	0.02	.	13.4029	0.60893	0.0:0.9237:0.0:0.0763	.	94;94;94;94	E9PD61;B7Z3V7;P39086;P39086-2	.;.;GRIK1_HUMAN;.	Q	94	ENSP00000327687:R94Q;ENSP00000373777:R94Q;ENSP00000382797:R94Q;ENSP00000382798:R94Q;ENSP00000446326:R94Q;ENSP00000373776:R94Q;ENSP00000382791:R94Q;ENSP00000382793:R94Q;ENSP00000311646:R94Q	ENSP00000311646:R94Q	R	-	2	0	GRIK1	29988091	1.000000	0.71417	0.984000	0.44739	0.972000	0.66771	7.569000	0.82380	1.394000	0.46624	0.655000	0.94253	CGG		0.433	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			24	52	0	0	0	1	0	24	52				
KCNN3	3782	broad.mit.edu	37	1	154744824	154744824	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr1:154744824T>C	ENST00000271915.4	-	3	1390	c.1075A>G	c.(1075-1077)Acc>Gcc	p.T359A	KCNN3_ENST00000361147.4_Missense_Mutation_p.T54A|KCNN3_ENST00000358505.2_Missense_Mutation_p.T46A	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	364					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	CGCTCGTAGGTCATGGCTATC	0.592																																						ENST00000271915.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28						c.(1075-1077)Acc>Gcc		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3							50.0	45.0	47.0					1																	154744824		2203	4300	6503	SO:0001583	missense	3782					integral to membrane	calmodulin binding	g.chr1:154744824T>C	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.1075A>G	1.37:g.154744824T>C	ENSP00000271915:p.Thr359Ala					KCNN3_ENST00000358505.2_Missense_Mutation_p.T46A|KCNN3_ENST00000361147.4_Missense_Mutation_p.T54A	p.T359A	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		3	1390	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		364					B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	SNP	ENST00000271915.4	37	c.1075A>G	CCDS30880.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.582186	0.86748	.	.	ENSG00000143603	ENST00000361147;ENST00000271915;ENST00000358505	D;D;D	0.98987	-5.3;-4.09;-5.26	4.69	4.69	0.59074	Potassium channel, calcium-activated, SK, conserved region (1);	0.000000	0.56097	D	0.000027	D	0.99321	0.9762	M	0.90483	3.12	0.54753	D	0.999986	D;D;P	0.76494	0.999;0.992;0.929	D;D;P	0.83275	0.996;0.989;0.792	D	0.98979	1.0804	10	0.87932	D	0	-33.9045	13.994	0.64386	0.0:0.0:0.0:1.0	.	365;364;54	Q6JXY2;Q9UGI6;Q9UGI6-2	.;KCNN3_HUMAN;.	A	54;359;46	ENSP00000354764:T54A;ENSP00000271915:T359A;ENSP00000351295:T46A	ENSP00000271915:T359A	T	-	1	0	KCNN3	153011448	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.864000	0.87037	1.956000	0.56807	0.459000	0.35465	ACC		0.592	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		9	30	0	0	0	1	0	9	30				
CNTN6	27255	broad.mit.edu	37	3	1418725	1418725	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr3:1418725G>A	ENST00000446702.2	+	17	2759	c.2132G>A	c.(2131-2133)gGa>gAa	p.G711E	CNTN6_ENST00000539053.1_Missense_Mutation_p.G639E|CNTN6_ENST00000350110.2_Missense_Mutation_p.G711E			Q9UQ52	CNTN6_HUMAN	contactin 6	711	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CATGGAGGTGGAGGAAGTCGG	0.398																																						ENST00000446702.2																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(2131-2133)gGa>gAa		contactin 6							197.0	187.0	190.0					3																	1418725		2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1418725G>A	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2132G>A	3.37:g.1418725G>A	ENSP00000407822:p.Gly711Glu					CNTN6_ENST00000350110.2_Missense_Mutation_p.G711E|CNTN6_ENST00000539053.1_Missense_Mutation_p.G639E	p.G711E			Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	17	2759	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	711			Fibronectin type-III 2.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.2132G>A	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.911263	0.92178	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.52754	0.65;0.65;0.65	5.76	5.76	0.90799	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000019	T	0.79862	0.4519	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85326	0.1087	10	0.87932	D	0	.	19.9759	0.97304	0.0:0.0:1.0:0.0	.	711	Q9UQ52	CNTN6_HUMAN	E	711;639;711	ENSP00000407822:G711E;ENSP00000442791:G639E;ENSP00000341882:G711E	ENSP00000341882:G711E	G	+	2	0	CNTN6	1393725	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.086000	0.94088	2.713000	0.92767	0.655000	0.94253	GGA		0.398	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		23	59	0	0	0	1	0	23	59				
DCHS2	54798	broad.mit.edu	37	4	155241971	155241971	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr4:155241971G>A	ENST00000357232.4	-	14	3214	c.3215C>T	c.(3214-3216)aCc>aTc	p.T1072I		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1072	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATACACCAGGGTTCCTATGGG	0.428																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(3214-3216)aCc>aTc		dachsous cadherin-related 2							196.0	202.0	200.0					4																	155241971		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155241971G>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.3215C>T	4.37:g.155241971G>A	ENSP00000349768:p.Thr1072Ile						p.T1072I	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	14	3214	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1072			Cadherin 9.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.3215C>T	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751597	0.69533	.	.	ENSG00000197410	ENST00000357232	T	0.58210	0.35	5.69	5.69	0.88448	Cadherin (3);Cadherin-like (1);	0.080701	0.50627	D	0.000106	T	0.78723	0.4328	M	0.90425	3.115	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.80859	-0.1194	10	0.49607	T	0.09	.	19.8145	0.96560	0.0:0.0:1.0:0.0	.	1072	Q6V1P9	PCD23_HUMAN	I	1072	ENSP00000349768:T1072I	ENSP00000349768:T1072I	T	-	2	0	DCHS2	155461421	1.000000	0.71417	0.046000	0.18839	0.630000	0.37929	9.476000	0.97823	2.683000	0.91414	0.563000	0.77884	ACC		0.428	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		30	56	0	0	0	1	0	30	56				
GCNT4	51301	broad.mit.edu	37	5	74325284	74325284	+	Silent	SNP	C	C	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr5:74325284C>T	ENST00000322348.4	-	1	1440	c.579G>A	c.(577-579)gaG>gaA	p.E193E		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	193					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|homeostasis of number of cells (GO:0048872)|inter-male aggressive behavior (GO:0002121)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|thyroid hormone metabolic process (GO:0042403)|tissue morphogenesis (GO:0048729)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		ATTCCACAGCCTCTAATTTGG	0.398																																						ENST00000322348.4																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19						c.(577-579)gaG>gaA		glucosaminyl (N-acetyl) transferase 4, core 2							94.0	97.0	96.0					5																	74325284		2203	4300	6503	SO:0001819	synonymous_variant	51301				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr5:74325284C>T	AF132035	CCDS4026.1	5q12	2013-02-25	2010-03-16		ENSG00000176928	ENSG00000176928	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	17973	protein-coding gene	gene with protein product	"""core 2 beta-1,6-N-acetylglucosaminyltransferase 3"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4"""		"""glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""			10753916	Standard	NM_016591		Approved	C2GNT3	uc003kdn.3	Q9P109	OTTHUMG00000131272	ENST00000322348.4:c.579G>A	5.37:g.74325284C>T							p.E193E	NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)	1	1440	-		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)	193						Silent	SNP	ENST00000322348.4	37	c.579G>A	CCDS4026.1																																																																																				0.398	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254040.1	NM_016591		22	62	0	0	0	1	0	22	62				
WDR19	57728	broad.mit.edu	37	4	39230260	39230260	+	Silent	SNP	G	G	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr4:39230260G>T	ENST00000399820.3	+	17	2086	c.1932G>T	c.(1930-1932)acG>acT	p.T644T	WDR19_ENST00000288634.7_Silent_p.T484T|WDR19_ENST00000515631.1_3'UTR	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	644					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						TAAAAGATACGGGGCCTGACG	0.423																																						ENST00000399820.3																			0				large_intestine(1)	1						c.(1930-1932)acG>acT		WD repeat domain 19							134.0	127.0	129.0					4																	39230260		1885	4106	5991	SO:0001819	synonymous_variant	57728				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	g.chr4:39230260G>T	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.1932G>T	4.37:g.39230260G>T						WDR19_ENST00000515631.1_3'UTR|WDR19_ENST00000288634.7_Silent_p.T484T	p.T644T	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN			17	2086	+			644					B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Silent	SNP	ENST00000399820.3	37	c.1932G>T	CCDS47042.1																																																																																				0.423	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1			6	79	1	0	2.0095e-06	1	2.10673e-06	6	79				
DMD	1756	broad.mit.edu	37	X	31986568	31986568	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chrX:31986568C>G	ENST00000357033.4	-	45	6708	c.6502G>C	c.(6502-6504)Gaa>Caa	p.E2168Q	DMD_ENST00000378707.3_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.E2164Q|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000343523.2_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2168					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|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 skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGAATTATTTCTTCCCCAGTT	0.448																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(6502-6504)Gaa>Caa		dystrophin							98.0	86.0	90.0					X																	31986568		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31986568C>G	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6502G>C	X.37:g.31986568C>G	ENSP00000354923:p.Glu2168Gln					DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.E2164Q	p.E2168Q	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			45	6708	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2168					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.6502G>C	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.814906	0.70912	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.50277	0.75;0.75	5.37	5.37	0.77165	.	0.000000	0.35936	U	0.002891	T	0.59865	0.2225	L	0.51422	1.61	0.80722	D	1	B;P;P;P;D;B	0.56287	0.291;0.59;0.476;0.643;0.975;0.415	B;B;B;P;P;B	0.57371	0.132;0.384;0.326;0.518;0.819;0.417	T	0.59080	-0.7521	10	0.44086	T	0.13	.	18.2351	0.89947	0.0:1.0:0.0:0.0	.	827;2160;2168;2164;827;824	P11532-2;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;.;DMD_HUMAN;.;.;.	Q	2160;827;824;2164;2168;2168;2045	ENSP00000367948:E2164Q;ENSP00000354923:E2168Q	ENSP00000354923:E2168Q	E	-	1	0	DMD	31896489	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.677000	0.68142	2.244000	0.73946	0.538000	0.68166	GAA		0.448	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		12	26	0	0	0	1	0	12	26				
SLC16A2	6567	broad.mit.edu	37	X	73740921	73740921	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chrX:73740921C>T	ENST00000587091.1	+	2	704	c.527C>T	c.(526-528)gCg>gTg	p.A176V	SLC16A2_ENST00000276033.5_Missense_Mutation_p.A250V	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	176					monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	ACAGCAACCGCGGGGGCTGCC	0.532																																						ENST00000276033.5																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21						c.(748-750)gCg>gTg		solute carrier family 16, member 2 (thyroid hormone transporter)	Pyruvic acid(DB00119)						85.0	77.0	80.0					X																	73740921		2203	4300	6503	SO:0001583	missense	6567					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chrX:73740921C>T		CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100		"""Solute carriers"""	10923	protein-coding gene	gene with protein product		300095	"""solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)"", ""Allan-Herndon-Dudley syndrome"", ""solute carrier family 16 (monocarboxylic acid transporters), member 2"", ""mental retardation, X-linked 22"", ""solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"""	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	Standard	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	P36021	OTTHUMG00000021857	ENST00000587091.1:c.527C>T	X.37:g.73740921C>T	ENSP00000465734:p.Ala176Val					SLC16A2_ENST00000587091.1_Missense_Mutation_p.A176V	p.A250V			P36021	MOT8_HUMAN			2	915	+			176					Q7Z797	Missense_Mutation	SNP	ENST00000587091.1	37	c.749C>T	CCDS14426.2	.	.	.	.	.	.	.	.	.	.	C	3.299	-0.143233	0.06669	.	.	ENSG00000147100	ENST00000276033	T	0.25912	1.77	5.7	4.84	0.62591	Major facilitator superfamily domain, general substrate transporter (1);	0.610379	0.17653	N	0.166621	T	0.11196	0.0273	N	0.12182	0.205	0.09310	N	1	B	0.17852	0.024	B	0.17722	0.019	T	0.37079	-0.9721	10	0.02654	T	1	.	6.7098	0.23270	0.0:0.6924:0.1448:0.1628	.	176	P36021	MOT8_HUMAN	V	250	ENSP00000276033:A250V	ENSP00000276033:A250V	A	+	2	0	SLC16A2	73657646	0.042000	0.20092	0.421000	0.26609	0.762000	0.43233	2.485000	0.45250	1.166000	0.42689	0.597000	0.82753	GCG		0.532	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057266.3			23	14	0	0	0	1	0	23	14				
CKAP5	9793	broad.mit.edu	37	11	46772926	46772926	+	Silent	SNP	T	T	C			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr11:46772926T>C	ENST00000529230.1	-	39	5338	c.5292A>G	c.(5290-5292)ctA>ctG	p.L1764L	CKAP5_ENST00000354558.3_Silent_p.L1704L|MIR5582_ENST00000579697.1_RNA|CKAP5_ENST00000415402.1_Silent_p.L1764L|CKAP5_ENST00000312055.5_Silent_p.L1704L			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1764					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						ATAAGGTGTGTAGCAGGGTCT	0.428																																					Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1																			0				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(5290-5292)ctA>ctG		cytoskeleton associated protein 5							190.0	184.0	186.0					11																	46772926		2201	4299	6500	SO:0001819	synonymous_variant	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46772926T>C		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.5292A>G	11.37:g.46772926T>C						CKAP5_ENST00000415402.1_Silent_p.L1764L|CKAP5_ENST00000312055.5_Silent_p.L1704L|CKAP5_ENST00000354558.3_Silent_p.L1704L	p.L1764L			Q14008	CKAP5_HUMAN			39	5338	-			1764					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Silent	SNP	ENST00000529230.1	37	c.5292A>G	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	T	7.686	0.690137	0.15039	.	.	ENSG00000175216	ENST00000525896	.	.	.	5.72	-1.31	0.09230	.	.	.	.	.	T	0.43299	0.1241	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23868	-1.0176	4	.	.	.	-12.5506	4.0363	0.09731	0.1204:0.5241:0.0881:0.2674	.	.	.	.	A	3	.	.	T	-	1	0	CKAP5	46729502	0.492000	0.26027	0.974000	0.42286	0.898000	0.52572	-0.153000	0.10144	-0.558000	0.06118	-0.977000	0.02584	ACA		0.428	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		37	73	0	0	0	1	0	37	73				
LAMA3	3909	broad.mit.edu	37	18	21501019	21501019	+	Splice_Site	SNP	G	G	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr18:21501019G>T	ENST00000313654.9	+	61	8284		c.e61+1		LAMA3_ENST00000588770.1_Splice_Site|LAMA3_ENST00000399516.3_Splice_Site|LAMA3_ENST00000587184.1_Splice_Site|LAMA3_ENST00000269217.6_Splice_Site	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3						cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					AGACCATTCGGTACACCTTTT	0.388																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.e61+1		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						109.0	98.0	102.0					18																	21501019		2203	4300	6503	SO:0001630	splice_region_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21501019G>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.8043+1G>T	18.37:g.21501019G>T						LAMA3_ENST00000587184.1_Splice_Site|LAMA3_ENST00000399516.3_Splice_Site|LAMA3_ENST00000588770.1_Splice_Site|LAMA3_ENST00000269217.6_Splice_Site		NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			61	8284	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)							B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Splice_Site	SNP	ENST00000313654.9	37		CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.727327	0.48833	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2	0.82063	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LAMA3	19755017	1.000000	0.71417	0.911000	0.35937	0.026000	0.11368	5.463000	0.66712	2.500000	0.84329	0.650000	0.86243	.		0.388	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129	Intron	9	17	1	0	5.4927e-09	1	5.85288e-09	9	17				
ADAM30	11085	broad.mit.edu	37	1	120438879	120438879	+	Silent	SNP	G	G	A	rs200819018		TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr1:120438879G>A	ENST00000369400.1	-	1	239	c.81C>T	c.(79-81)ggC>ggT	p.G27G		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	27					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TTACATCTTCGCCAAGAGACT	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		19095	0.001		0.0	False		,,,				2504	0.0					ENST00000369400.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38						c.(79-81)ggC>ggT		ADAM metallopeptidase domain 30							56.0	56.0	56.0					1																	120438879		2203	4300	6503	SO:0001819	synonymous_variant	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120438879G>A	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.81C>T	1.37:g.120438879G>A							p.G27G	NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	1	239	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	27					A8K8W8|Q5T3X6|Q9UKF1	Silent	SNP	ENST00000369400.1	37	c.81C>T	CCDS907.1																																																																																				0.512	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		19	40	0	0	0	1	0	19	40				
ZNF628	89887	broad.mit.edu	37	19	55995366	55995366	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr19:55995366G>A	ENST00000598519.1	+	3	3359	c.2806G>A	c.(2806-2808)Gtg>Atg	p.V936M	NAT14_ENST00000591590.1_5'Flank|ZNF628_ENST00000391718.2_Missense_Mutation_p.V932M|NAT14_ENST00000587400.1_5'Flank|NAT14_ENST00000205194.4_5'Flank			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	936					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CTTGCAGAGCGTGCTGGTGCT	0.677																																						ENST00000598519.1																			0				endometrium(4)|kidney(1)|lung(2)	7						c.(2806-2808)Gtg>Atg		zinc finger protein 628							46.0	30.0	35.0					19																	55995366		2201	4299	6500	SO:0001583	missense	89887					nucleus	DNA binding|zinc ion binding	g.chr19:55995366G>A	AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"""Zinc fingers, C2H2-type"""	28054	protein-coding gene	gene with protein product	"""Zinc finger expressed in Embryonal cells and Certain adult organs"""	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.2806G>A	19.37:g.55995366G>A	ENSP00000469591:p.Val936Met					ZNF628_ENST00000391718.2_Missense_Mutation_p.V932M	p.V936M	NM_033113.2	NP_149104.3	Q5EBL2	ZN628_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)	3	3359	+	Breast(117;0.155)		932					Q86X34	Missense_Mutation	SNP	ENST00000598519.1	37	c.2806G>A	CCDS33116.3	.	.	.	.	.	.	.	.	.	.	.	14.80	2.642702	0.47153	.	.	ENSG00000197483	ENST00000391718	T	0.12672	2.66	4.14	3.08	0.35506	.	0.000000	0.42420	U	0.000707	T	0.15478	0.0373	N	0.24115	0.695	0.26094	N	0.980915	D	0.71674	0.998	P	0.55545	0.778	T	0.02301	-1.1180	10	0.87932	D	0	.	9.2066	0.37293	0.1116:0.0:0.8884:0.0	.	932	Q5EBL2	ZN628_HUMAN	M	932	ENSP00000375598:V932M	ENSP00000375598:V932M	V	+	1	0	ZNF628	60687178	0.000000	0.05858	0.998000	0.56505	0.859000	0.49053	0.151000	0.16283	2.028000	0.59812	0.289000	0.19496	GTG		0.677	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		6	17	0	0	0	1	0	6	17				
C17orf53	78995	broad.mit.edu	37	17	42226166	42226166	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr17:42226166C>G	ENST00000319977.4	+	3	1232	c.995C>G	c.(994-996)tCt>tGt	p.S332C	C17orf53_ENST00000245382.6_Missense_Mutation_p.S332C|C17orf53_ENST00000585683.1_Missense_Mutation_p.S332C	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	332										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		AGGACTAGCTCTGGATTATTT	0.517																																						ENST00000319977.4																			0				NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22						c.(994-996)tCt>tGt		chromosome 17 open reading frame 53							243.0	238.0	240.0					17																	42226166		2203	4300	6503	SO:0001583	missense	78995							g.chr17:42226166C>G	AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.995C>G	17.37:g.42226166C>G	ENSP00000313500:p.Ser332Cys					C17orf53_ENST00000585683.1_Missense_Mutation_p.S332C|C17orf53_ENST00000245382.6_Missense_Mutation_p.S332C	p.S332C	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	3	1232	+		Breast(137;0.0364)|Prostate(33;0.0376)	332					A8K7A9|Q9BWM9|Q9HAI1	Missense_Mutation	SNP	ENST00000319977.4	37	c.995C>G	CCDS11477.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.786458	0.31593	.	.	ENSG00000125319	ENST00000319977;ENST00000245382	T;T	0.53857	0.65;0.6	5.44	-0.508	0.11980	.	0.729117	0.12646	N	0.450833	T	0.33352	0.0860	N	0.19112	0.55	0.09310	N	1	B;B;B	0.24368	0.051;0.102;0.051	B;B;B	0.24155	0.037;0.051;0.037	T	0.20306	-1.0279	10	0.48119	T	0.1	-0.0681	7.3665	0.26776	0.1183:0.3536:0.4593:0.0688	.	332;332;332	A8K7A9;Q8N3J3-3;Q8N3J3	.;.;CQ053_HUMAN	C	332	ENSP00000313500:S332C;ENSP00000245382:S332C	ENSP00000245382:S332C	S	+	2	0	C17orf53	39581692	0.000000	0.05858	0.000000	0.03702	0.202000	0.24057	-0.927000	0.03984	-0.187000	0.10516	0.561000	0.74099	TCT		0.517	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457697.1	NM_024032		93	180	0	0	0	1	0	93	180				
ELOVL3	83401	broad.mit.edu	37	10	103988611	103988611	+	Missense_Mutation	SNP	C	C	T	rs199876592		TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr10:103988611C>T	ENST00000370005.3	+	4	636	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	139					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)	p.R139W(1)		breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		CCTGCGTAAGCGGCCACTCAT	0.537																																						ENST00000370005.3																			1	Substitution - Missense(1)	p.R139W(1)	lung(1)	breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16						c.(415-417)Cgg>Tgg		ELOVL fatty acid elongase 3							141.0	132.0	135.0					10																	103988611		2203	4300	6503	SO:0001583	missense	83401				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr10:103988611C>T	AF292387	CCDS7531.1	10q24	2011-05-25	2011-05-25		ENSG00000119915	ENSG00000119915			18047	protein-coding gene	gene with protein product		611815	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3"""				Standard	NM_152310		Approved	CIG-30	uc001kut.3	Q9HB03	OTTHUMG00000018951	ENST00000370005.3:c.415C>T	10.37:g.103988611C>T	ENSP00000359022:p.Arg139Trp						p.R139W	NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)	4	636	+		Colorectal(252;0.207)	139					Q5VZL3|Q8N180	Missense_Mutation	SNP	ENST00000370005.3	37	c.415C>T	CCDS7531.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.670501	0.88348	.	.	ENSG00000119915	ENST00000370005	T	0.25414	1.8	5.24	4.33	0.51752	.	0.120655	0.38111	N	0.001807	T	0.54775	0.1879	M	0.86740	2.835	0.47994	D	0.999562	D	0.89917	1.0	D	0.81914	0.995	T	0.62969	-0.6741	10	0.87932	D	0	-8.7231	12.8124	0.57647	0.0:0.9196:0.0:0.0804	.	139	Q9HB03	ELOV3_HUMAN	W	139	ENSP00000359022:R139W	ENSP00000359022:R139W	R	+	1	2	ELOVL3	103978601	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	4.082000	0.57635	1.193000	0.43086	0.561000	0.74099	CGG		0.537	ELOVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050030.1	NM_152310		36	91	0	0	0	1	0	36	91				
AFF2	2334	broad.mit.edu	37	X	148037365	148037365	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chrX:148037365G>A	ENST00000370460.2	+	11	2269	c.1790G>A	c.(1789-1791)cGt>cAt	p.R597H	AFF2_ENST00000370457.5_Missense_Mutation_p.R564H|AFF2_ENST00000342251.3_Missense_Mutation_p.R564H|AFF2_ENST00000286437.5_Missense_Mutation_p.R238H	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	597					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.R597H(3)|p.R238H(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GAGAAAGCCCGTCCACGGCCC	0.468																																						ENST00000370460.2																			4	Substitution - Missense(4)	p.R597H(3)|p.R238H(1)	prostate(4)	breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(1789-1791)cGt>cAt		AF4/FMR2 family, member 2							97.0	100.0	99.0					X																	148037365		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148037365G>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1790G>A	X.37:g.148037365G>A	ENSP00000359489:p.Arg597His					AFF2_ENST00000342251.3_Missense_Mutation_p.R564H|AFF2_ENST00000286437.5_Missense_Mutation_p.R238H|AFF2_ENST00000370457.5_Missense_Mutation_p.R564H	p.R597H	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			11	2269	+	Acute lymphoblastic leukemia(192;6.56e-05)		597					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.1790G>A	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.035694	0.35893	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.5	4.62	0.57501	.	0.064020	0.64402	D	0.000009	T	0.72447	0.3461	M	0.77313	2.365	0.29780	N	0.83405	D;D;D;D;D;D	0.58620	0.983;0.979;0.979;0.979;0.979;0.983	P;P;P;P;P;P	0.55087	0.685;0.557;0.557;0.557;0.657;0.768	T	0.71533	-0.4564	10	0.49607	T	0.09	.	4.3047	0.10940	0.2164:0.1943:0.5893:0.0	.	238;562;564;558;587;597	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	H	597;564;564;238	ENSP00000359489:R597H;ENSP00000359486:R564H;ENSP00000345459:R564H;ENSP00000286437:R238H	ENSP00000286437:R238H	R	+	2	0	AFF2	147845065	1.000000	0.71417	0.632000	0.29296	0.000000	0.00434	4.345000	0.59360	1.074000	0.40909	-0.283000	0.09986	CGT		0.468	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		55	23	0	0	0	1	0	55	23				
KIF2C	11004	broad.mit.edu	37	1	45225999	45225999	+	Missense_Mutation	SNP	C	C	T	rs150935880		TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr1:45225999C>T	ENST00000372224.4	+	15	1528	c.1415C>T	c.(1414-1416)gCg>gTg	p.A472V	KIF2C_ENST00000372217.1_Missense_Mutation_p.A418V|RP11-269F19.2_ENST00000440985.1_RNA|KIF2C_ENST00000372218.4_Missense_Mutation_p.A431V|RP11-269F19.2_ENST00000428791.1_RNA|KIF2C_ENST00000372222.3_Missense_Mutation_p.A359V	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	472	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					CGCTCCCACGCGTGCTTCCAA	0.527																																						ENST00000372217.1																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34						c.(1252-1254)gCg>gTg		kinesin family member 2C		C	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	68.0	68.0	68.0		1415	5.4	1.0	1	dbSNP_134	68	0,8600		0,0,4300	yes	missense	KIF2C	NM_006845.3	64	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	472/726	45225999	2,13004	2203	4300	6503	SO:0001583	missense	11004				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding	g.chr1:45225999C>T	U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"""Kinesins"""	6393	protein-coding gene	gene with protein product		604538	"""kinesin-like 6 (mitotic centromere-associated kinesin)"""	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.1415C>T	1.37:g.45225999C>T	ENSP00000361298:p.Ala472Val					KIF2C_ENST00000372222.3_Missense_Mutation_p.A359V|KIF2C_ENST00000372224.4_Missense_Mutation_p.A472V|KIF2C_ENST00000372218.4_Missense_Mutation_p.A431V|RP11-269F19.2_ENST00000428791.1_RNA|RP11-269F19.2_ENST00000440985.1_RNA	p.A418V			Q99661	KIF2C_HUMAN			14	1604	+	Acute lymphoblastic leukemia(166;0.155)		472			Kinesin-motor.		B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Missense_Mutation	SNP	ENST00000372224.4	37	c.1253C>T	CCDS512.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948777	0.73787	4.54E-4	0.0	ENSG00000142945	ENST00000372224;ENST00000372218;ENST00000372222;ENST00000372217	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	5.43	5.43	0.79202	Kinesin, motor domain (5);	0.000000	0.85682	D	0.000000	T	0.59155	0.2173	M	0.92649	3.33	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.998;0.996;0.998	T	0.69109	-0.5232	10	0.87932	D	0	.	19.6058	0.95582	0.0:1.0:0.0:0.0	.	431;418;472	B7Z6Q6;Q99661-2;Q99661	.;.;KIF2C_HUMAN	V	472;431;359;418	ENSP00000361298:A472V;ENSP00000361292:A431V;ENSP00000361296:A359V;ENSP00000361291:A418V	ENSP00000361291:A418V	A	+	2	0	KIF2C	44998586	1.000000	0.71417	0.999000	0.59377	0.011000	0.07611	7.776000	0.85560	2.722000	0.93159	0.655000	0.94253	GCG		0.527	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023180.1	NM_006845		20	49	0	0	0	1	0	20	49				
PTPN9	5780	broad.mit.edu	37	15	75816566	75816566	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr15:75816566C>T	ENST00000306726.2	-	3	793	c.281G>A	c.(280-282)gGa>gAa	p.G94E	CTD-2323K18.1_ENST00000568707.1_RNA	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	94	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGTGAATTTTCCACTGAGGAT	0.388																																						ENST00000306726.2																			0				central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(280-282)gGa>gAa		protein tyrosine phosphatase, non-receptor type 9							110.0	102.0	105.0					15																	75816566		2197	4294	6491	SO:0001583	missense	5780					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr15:75816566C>T		CCDS10280.1	15q23	2011-06-09			ENSG00000169410	ENSG00000169410		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9661	protein-coding gene	gene with protein product		600768				1557404	Standard	NM_002833		Approved	MEG2	uc002bal.3	P43378	OTTHUMG00000142838	ENST00000306726.2:c.281G>A	15.37:g.75816566C>T	ENSP00000303554:p.Gly94Glu						p.G94E	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN			3	793	-			94			CRAL-TRIO.		Q53XR9	Missense_Mutation	SNP	ENST00000306726.2	37	c.281G>A	CCDS10280.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582670	0.86748	.	.	ENSG00000169410	ENST00000306726;ENST00000544966	D	0.86956	-2.19	5.58	5.58	0.84498	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.92841	0.7723	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92801	0.6256	10	0.56958	D	0.05	.	18.1258	0.89585	0.0:1.0:0.0:0.0	.	94	P43378	PTN9_HUMAN	E	94;84	ENSP00000303554:G94E	ENSP00000303554:G94E	G	-	2	0	PTPN9	73603621	1.000000	0.71417	0.993000	0.49108	0.927000	0.56198	7.238000	0.78173	2.622000	0.88805	0.491000	0.48974	GGA		0.388	PTPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286474.1			3	37	0	0	0	1	0	3	37				
C1ORF220	400798	broad.mit.edu	37	1	178514844	178514844	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr1:178514844C>T	ENST00000367636.4	+	2	568	c.230C>T	c.(229-231)gCc>gTc	p.A77V	C1orf220_ENST00000521244.1_3'UTR|C1orf220_ENST00000319387.2_3'UTR																							GCTCTTTCCGCCACATCACAG	0.527																																						ENST00000367636.4																			0											c.(229-231)gCc>gTc									92.0	75.0	81.0					1																	178514844		2203	4300	6503	SO:0001583	missense	0							g.chr1:178514844C>T																												ENST00000367636.4:c.230C>T	1.37:g.178514844C>T	ENSP00000356608:p.Ala77Val					C1orf220_ENST00000521244.1_3'UTR|C1orf220_ENST00000319387.2_3'UTR	p.A77V							2	568	+									Missense_Mutation	SNP	ENST00000367636.4	37	c.230C>T		.	.	.	.	.	.	.	.	.	.	C	8.565	0.878735	0.17395	.	.	ENSG00000184909	ENST00000367636	T	0.24350	1.86	3.38	-1.2	0.09554	.	.	.	.	.	T	0.11495	0.0280	.	.	.	0.09310	N	1	B	0.33171	0.4	B	0.30646	0.118	T	0.22836	-1.0205	7	.	.	.	.	0.4279	0.00467	0.1887:0.3262:0.2016:0.2836	.	77	Q5T0J3	CA220_HUMAN	V	77	ENSP00000356608:A77V	.	A	+	2	0	AL513013.1	176781467	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.016000	0.12613	-0.228000	0.09869	0.462000	0.41574	GCC		0.527	C1ORF220-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				7	79	0	0	0	1	0	7	79				
SLC13A2	9058	broad.mit.edu	37	17	26818588	26818588	+	Silent	SNP	G	G	A			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr17:26818588G>A	ENST00000314669.5	+	5	1128	c.708G>A	c.(706-708)acG>acA	p.T236T	SLC13A2_ENST00000537681.1_Silent_p.T165T|SLC13A2_ENST00000444914.3_Silent_p.T285T|SLC13A2_ENST00000545060.1_Silent_p.T193T	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	236					dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	GCATCGCCACGCTGACTGGCA	0.627																																						ENST00000444914.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(853-855)acG>acA		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	Succinic acid(DB00139)						62.0	58.0	59.0					17																	26818588		2203	4300	6503	SO:0001819	synonymous_variant	9058					integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity	g.chr17:26818588G>A	U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"""Solute carriers"""	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.708G>A	17.37:g.26818588G>A						SLC13A2_ENST00000545060.1_Silent_p.T193T|SLC13A2_ENST00000537681.1_Silent_p.T165T|SLC13A2_ENST00000314669.5_Silent_p.T236T	p.T285T	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	5	1275	+	all_lung(13;0.000871)|Lung NSC(42;0.0027)		236					B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Silent	SNP	ENST00000314669.5	37	c.855G>A	CCDS11231.1																																																																																				0.627	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255722.1	NM_003984		66	93	0	0	0	1	0	66	93				
PIGQ	9091	broad.mit.edu	37	16	630970	630970	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr16:630970C>T	ENST00000026218.5	+	9	1617	c.1529C>T	c.(1528-1530)gCg>gTg	p.A510V	PIGQ_ENST00000409527.2_Missense_Mutation_p.A510V|PIGQ_ENST00000321878.5_Missense_Mutation_p.A510V	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	510	Leu-rich.				C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				TACAGGCTGGCGGGTAAGTGC	0.647																																						ENST00000321878.5																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(1528-1530)gCg>gTg		phosphatidylinositol glycan anchor biosynthesis, class Q							81.0	75.0	77.0					16																	630970		2201	4300	6501	SO:0001583	missense	9091				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr16:630970C>T	AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"""Phosphatidylinositol glycan anchor biosynthesis"""	14135	protein-coding gene	gene with protein product		605754	"""phosphatidylinositol glycan, class Q"""			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.1529C>T	16.37:g.630970C>T	ENSP00000026218:p.Ala510Val					PIGQ_ENST00000409527.2_Missense_Mutation_p.A510V|PIGQ_ENST00000026218.5_Missense_Mutation_p.A510V	p.A510V	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN			9	1688	+		Hepatocellular(780;0.00335)	510			Leu-rich.		A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	ENST00000026218.5	37	c.1529C>T	CCDS10411.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195430	0.58126	.	.	ENSG00000007541	ENST00000409527;ENST00000321878;ENST00000026218;ENST00000540241	T;T;T	0.46063	0.88;0.88;1.89	5.22	5.22	0.72569	.	0.051175	0.85682	D	0.000000	T	0.48352	0.1495	L	0.32530	0.975	0.80722	D	1	D;D;P	0.76494	0.998;0.999;0.535	P;P;B	0.56648	0.738;0.803;0.143	T	0.48186	-0.9057	10	0.56958	D	0.05	-13.7519	15.9255	0.79611	0.0:1.0:0.0:0.0	.	524;510;510	E7ERP4;Q9BRB3;Q9BRB3-2	.;PIGQ_HUMAN;.	V	510;510;510;68	ENSP00000386760:A510V;ENSP00000326674:A510V;ENSP00000026218:A510V	ENSP00000026218:A510V	A	+	2	0	PIGQ	570971	1.000000	0.71417	0.347000	0.25668	0.597000	0.36814	7.446000	0.80609	2.443000	0.82685	0.511000	0.50034	GCG		0.647	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2	NM_004204		63	156	0	0	0	1	0	63	156				
FNDC1	84624	broad.mit.edu	37	6	159654482	159654482	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr6:159654482C>T	ENST00000297267.9	+	11	3138	c.2938C>T	c.(2938-2940)Cgt>Tgt	p.R980C	FNDC1_ENST00000340366.6_Missense_Mutation_p.R917C	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	980					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GTCCCCTGCTCGTCCGCCCGC	0.662																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(2938-2940)Cgt>Tgt		fibronectin type III domain containing 1							32.0	39.0	37.0					6																	159654482		2192	4286	6478	SO:0001583	missense	84624					extracellular region		g.chr6:159654482C>T	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.2938C>T	6.37:g.159654482C>T	ENSP00000297267:p.Arg980Cys					FNDC1_ENST00000340366.6_Missense_Mutation_p.R917C	p.R980C	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	3138	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	980					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.2938C>T	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.50|11.50	1.658719|1.658719	0.29515|0.29515	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.09630|.	2.96;3.76|.	3.2|3.2	0.0303|0.0303	0.14166|0.14166	.|.	1.131530|.	0.06576|.	N|.	0.749466|.	T|T	0.18676|0.18676	0.0448|0.0448	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	P|P	0.0|0.0	D;D|.	0.76494|.	0.999;0.999|.	P;P|.	0.56343|.	0.796;0.63|.	T|T	0.12578|0.12578	-1.0542|-1.0542	9|4	0.38643|.	T|.	0.18|.	-0.0179|-0.0179	8.6672|8.6672	0.34127|0.34127	0.6271:0.3729:0.0:0.0|0.6271:0.3729:0.0:0.0	.|.	917;980|.	Q4ZHG4-2;Q4ZHG4|.	.;FNDC1_HUMAN|.	C|L	980;917|875	ENSP00000297267:R980C;ENSP00000342460:R917C|.	ENSP00000297267:R980C|.	R|S	+|+	1|2	0|0	FNDC1|FNDC1	159574472|159574472	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.022000|0.022000	0.10575|0.10575	0.300000|0.300000	0.19156|0.19156	-0.006000|-0.006000	0.14370|0.14370	0.555000|0.555000	0.69702|0.69702	CGT|TCG		0.662	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		8	24	0	0	0	1	0	8	24				
GUCY1A2	2977	broad.mit.edu	37	11	106558307	106558307	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr11:106558307C>T	ENST00000526355.2	-	8	2635	c.2167G>A	c.(2167-2169)Ggc>Agc	p.G723S	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.G744S|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.G754S	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	723					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	AACATGGTGCCGATGTTGTAG	0.498																																						ENST00000526355.1																			0				breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(2167-2169)Ggc>Agc		guanylate cyclase 1, soluble, alpha 2							160.0	155.0	157.0					11																	106558307		2201	4298	6499	SO:0001583	missense	2977				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	g.chr11:106558307C>T	X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.2167G>A	11.37:g.106558307C>T	ENSP00000431245:p.Gly723Ser					GUCY1A2_ENST00000282249.2_Missense_Mutation_p.G754S|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.G744S	p.G723S	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	8	2635	-		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)	723					A1L4C4|B7ZLT5	Missense_Mutation	SNP	ENST00000526355.2	37	c.2167G>A	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.039330	0.93630	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	D;D;D	0.90133	-2.07;-2.62;-2.09	5.38	5.38	0.77491	.	0.000000	0.45867	U	0.000327	D	0.92319	0.7563	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.92827	0.6277	10	0.54805	T	0.06	.	18.4699	0.90769	0.0:1.0:0.0:0.0	.	744;754;723	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	S	723;754;744	ENSP00000431245:G723S;ENSP00000282249:G754S;ENSP00000344874:G744S	ENSP00000282249:G754S	G	-	1	0	GUCY1A2	106063517	1.000000	0.71417	0.987000	0.45799	0.933000	0.57130	7.385000	0.79763	2.689000	0.91719	0.305000	0.20034	GGC		0.498	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2			30	73	0	0	0	1	0	30	73				
HSPA8	3312	broad.mit.edu	37	11	122929413	122929413	+	Missense_Mutation	SNP	A	A	C	rs199504970	byFrequency	TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr11:122929413A>C	ENST00000532636.1	-	7	1568	c.1449T>G	c.(1447-1449)aaT>aaG	p.N483K	SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000533540.1_Missense_Mutation_p.N337K|HSPA8_ENST00000534624.1_Missense_Mutation_p.N483K|SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000526110.1_Missense_Mutation_p.N464K|HSPA8_ENST00000534319.1_Missense_Mutation_p.N247K|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000227378.3_Missense_Mutation_p.N483K			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	483					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGAGTATACCATTGGCATCAA	0.453																																					Colon(21;486 594 5900 6733 14272)	ENST00000534624.1																			0				breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36						c.(1447-1449)aaT>aaG		heat shock 70kDa protein 8							143.0	134.0	137.0					11																	122929413		2202	4299	6501	SO:0001583	missense	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122929413A>C	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.1449T>G	11.37:g.122929413A>C	ENSP00000437125:p.Asn483Lys					HSPA8_ENST00000227378.3_Missense_Mutation_p.N483K|HSPA8_ENST00000534319.1_Missense_Mutation_p.N247K|HSPA8_ENST00000533540.1_Missense_Mutation_p.N337K|HSPA8_ENST00000532636.1_Missense_Mutation_p.N483K|HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000526110.1_Missense_Mutation_p.N464K	p.N483K	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	7	1725	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	483					Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	c.1449T>G	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	A	17.11	3.305162	0.60305	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000524552;ENST00000526686	T;T;T;T;T;T;T;T	0.06068	3.35;3.35;3.35;3.35;3.35;3.35;3.35;3.35	4.45	2.02	0.26589	.	0.110892	0.56097	N	0.000027	T	0.32224	0.0822	H	0.99565	4.63	0.80722	D	1	P;P	0.48162	0.906;0.906	P;P	0.56648	0.803;0.803	T	0.06534	-1.0821	10	0.87932	D	0	-25.2748	5.4401	0.16504	0.7203:0.0:0.1509:0.1288	.	483;483	Q53GZ6;P11142	.;HSP7C_HUMAN	K	483;337;483;483;247;464;74;35	ENSP00000437125:N483K;ENSP00000437189:N337K;ENSP00000432083:N483K;ENSP00000227378:N483K;ENSP00000433316:N247K;ENSP00000433584:N464K;ENSP00000435908:N74K;ENSP00000435019:N35K	ENSP00000227378:N483K	N	-	3	2	HSPA8	122434623	1.000000	0.71417	0.990000	0.47175	0.777000	0.43975	1.071000	0.30666	0.165000	0.19558	-0.496000	0.04628	AAT		0.453	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			25	55	0	0	0	1	0	25	55				
ARPP21	10777	broad.mit.edu	37	3	35763246	35763246	+	Missense_Mutation	SNP	C	C	T	rs199754646	byFrequency	TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr3:35763246C>T	ENST00000187397.4	+	14	1601	c.1145C>T	c.(1144-1146)gCg>gTg	p.A382V	ARPP21_ENST00000458225.1_Missense_Mutation_p.A348V|ARPP21_ENST00000337271.5_Missense_Mutation_p.A328V|ARPP21_ENST00000444190.1_Missense_Mutation_p.A328V|ARPP21_ENST00000417925.1_Missense_Mutation_p.A348V	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	382	Ser-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						ACCAAGACGGCGAGTTTTGGG	0.537													C|||	2	0.000399361	0.0008	0.0	5008	,	,		19702	0.001		0.0	False		,,,				2504	0.0					ENST00000187397.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(1144-1146)gCg>gTg		cAMP-regulated phosphoprotein, 21kDa							48.0	40.0	42.0					3																	35763246		2203	4300	6503	SO:0001583	missense	10777					cytoplasm	nucleic acid binding	g.chr3:35763246C>T	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1145C>T	3.37:g.35763246C>T	ENSP00000187397:p.Ala382Val					ARPP21_ENST00000458225.1_Missense_Mutation_p.A348V|ARPP21_ENST00000444190.1_Missense_Mutation_p.A328V|ARPP21_ENST00000417925.1_Missense_Mutation_p.A348V|ARPP21_ENST00000337271.5_Missense_Mutation_p.A328V	p.A382V	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN			14	1601	+			382			Ser-rich.		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	c.1145C>T	CCDS2661.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	32	5.183850	0.94885	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92	5.75	5.75	0.90469	.	0.289408	0.34676	N	0.003764	T	0.31263	0.0791	L	0.51422	1.61	0.43579	D	0.995918	P;P;P	0.50156	0.865;0.888;0.932	P;B;P	0.48166	0.488;0.3;0.569	T	0.01290	-1.1394	10	0.19590	T	0.45	-15.2514	15.4336	0.75125	0.0:0.8618:0.1382:0.0	.	348;382;328	Q9UBL0-3;Q9UBL0;Q9UBL0-4	.;ARP21_HUMAN;.	V	348;328;328;382;348	ENSP00000414351:A348V;ENSP00000337792:A328V;ENSP00000405276:A328V;ENSP00000187397:A382V;ENSP00000412326:A348V	ENSP00000187397:A382V	A	+	2	0	ARPP21	35738250	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	3.430000	0.52807	2.725000	0.93324	0.655000	0.94253	GCG		0.537	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		6	29	0	0	0	1	0	6	29				
SMG1P7	100506060	broad.mit.edu	37	16	70253871	70253871	+	RNA	SNP	A	A	G			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr16:70253871A>G	ENST00000581050.1	-	0	1619					NR_033959.1																						GTAAAGCTTCACCGAAGAGTG	0.388																																						ENST00000581050.1																			0																																																			0							g.chr16:70253871A>G																													16.37:g.70253871A>G								NR_033959.1						0	1619	-									RNA	SNP	ENST00000581050.1	37																																																																																						0.388	RP11-296I10.6-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000441629.1			2	8	0	0	0	1	0	2	8				
TAAR5	9038	broad.mit.edu	37	6	132910431	132910431	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr6:132910431C>T	ENST00000258034.2	-	1	446	c.395G>A	c.(394-396)cGc>cAc	p.R132H		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	132					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GGCACAGTGGCGGTCAATGGA	0.582																																						ENST00000258034.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32						c.(394-396)cGc>cAc		trace amine associated receptor 5							100.0	109.0	106.0					6																	132910431		2203	4300	6503	SO:0001583	missense	9038				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	g.chr6:132910431C>T	AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"""GPCR / Class A : Trace amine associated receptors"""	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.395G>A	6.37:g.132910431C>T	ENSP00000258034:p.Arg132His						p.R132H	NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)	1	446	-	Breast(56;0.112)		132					D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Missense_Mutation	SNP	ENST00000258034.2	37	c.395G>A	CCDS5156.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.373402	0.61624	.	.	ENSG00000135569	ENST00000258034	D	0.97161	-4.27	5.58	4.72	0.59763	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000009	D	0.98798	0.9595	H	0.99565	4.63	0.47862	D	0.999536	D	0.60160	0.987	P	0.54401	0.751	D	0.98855	1.0760	10	0.87932	D	0	-16.1638	14.574	0.68232	0.0:0.9306:0.0:0.0694	.	132	O14804	TAAR5_HUMAN	H	132	ENSP00000258034:R132H	ENSP00000258034:R132H	R	-	2	0	TAAR5	132952124	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	5.860000	0.69546	1.605000	0.50152	-0.136000	0.14681	CGC		0.582	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1	NM_003967		33	99	0	0	0	1	0	33	99				
EPHB1	2047	broad.mit.edu	37	3	134967232	134967232	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr3:134967232G>T	ENST00000398015.3	+	14	2941	c.2571G>T	c.(2569-2571)atG>atT	p.M857I	EPHB1_ENST00000493838.1_Missense_Mutation_p.M418I	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	857	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						ACCAGCTCATGCTGGACTGTT	0.577																																						ENST00000398015.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(2569-2571)atG>atT		EPH receptor B1							58.0	63.0	61.0					3																	134967232		2203	4300	6503	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134967232G>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2571G>T	3.37:g.134967232G>T	ENSP00000381097:p.Met857Ile					EPHB1_ENST00000493838.1_Missense_Mutation_p.M418I	p.M857I	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN			14	2941	+			857			Protein kinase.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.2571G>T	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	G	36	5.650094	0.96714	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	D;D	0.85773	-2.03;-2.03	5.65	5.65	0.86999	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89602	0.6762	L	0.38838	1.175	0.80722	D	1	D	0.58620	0.983	D	0.73380	0.98	D	0.89864	0.4018	10	0.87932	D	0	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	857	P54762	EPHB1_HUMAN	I	857;418	ENSP00000381097:M857I;ENSP00000419574:M418I	ENSP00000381097:M857I	M	+	3	0	EPHB1	136449922	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.601000	0.98297	2.941000	0.99782	0.655000	0.94253	ATG		0.577	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		37	76	1	0	7.53189e-24	1	8.15955e-24	37	76				
SLC8B1	80024	broad.mit.edu	37	12	113758894	113758894	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr12:113758894A>T	ENST00000552014.1	-	5	844	c.329T>A	c.(328-330)cTg>cAg	p.L110Q	SLC8B1_ENST00000553238.1_5'UTR|SLC8B1_ENST00000202831.3_Missense_Mutation_p.L110Q|SLC8B1_ENST00000546737.1_Missense_Mutation_p.L110Q			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	110					cytosolic calcium ion homeostasis (GO:0051480)|glucose homeostasis (GO:0042593)|ion transport (GO:0006811)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of insulin secretion (GO:0050796)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial crista (GO:0030061)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)|calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential (GO:0086038)|protein homodimerization activity (GO:0042803)										AATCAGAAACAGGTAGAGCAG	0.622																																						ENST00000552014.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						c.(328-330)cTg>cAg									41.0	46.0	44.0					12																	113758894		2203	4300	6503	SO:0001583	missense	0				response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity	g.chr12:113758894A>T	AK025886	CCDS31909.1	12q24.13	2013-07-19	2013-07-19	2013-07-19	ENSG00000089060	ENSG00000089060		"""Solute carriers"""	26175	protein-coding gene	gene with protein product		609841	"""solute carrier family 24 (sodium/potassium/calcium exchanger), member 6"", ""solute carrier family 24 (sodium/lithium/calcium exchanger), member 6"""	SLC24A6		14625281, 23506867	Standard	NM_024959		Approved	FLJ22233, NCKX6, NCLX	uc001tvc.3	Q6J4K2	OTTHUMG00000169566	ENST00000552014.1:c.329T>A	12.37:g.113758894A>T	ENSP00000447091:p.Leu110Gln					SLC24A6_ENST00000553238.1_5'UTR|SLC24A6_ENST00000546737.1_Missense_Mutation_p.L110Q|SLC24A6_ENST00000202831.3_Missense_Mutation_p.L110Q	p.L110Q			Q6J4K2	NCKX6_HUMAN			5	844	-			110					A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Missense_Mutation	SNP	ENST00000552014.1	37	c.329T>A	CCDS31909.1	.	.	.	.	.	.	.	.	.	.	A	19.00	3.741190	0.69304	.	.	ENSG00000089060	ENST00000552014;ENST00000202831;ENST00000377458;ENST00000546737;ENST00000549181;ENST00000548186	T;T;T;T	0.68025	-0.28;-0.28;-0.3;1.38	5.09	3.87	0.44632	.	0.000000	0.64402	D	0.000013	T	0.82213	0.4988	M	0.86573	2.825	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	D	0.85163	0.0993	10	0.87932	D	0	.	11.5657	0.50805	0.8507:0.1493:0.0:0.0	.	110	Q6J4K2	NCKX6_HUMAN	Q	110	ENSP00000447091:L110Q;ENSP00000202831:L110Q;ENSP00000450081:L110Q;ENSP00000448703:L110Q	ENSP00000202831:L110Q	L	-	2	0	SLC24A6	112243277	1.000000	0.71417	0.999000	0.59377	0.896000	0.52359	5.233000	0.65337	1.924000	0.55735	0.402000	0.26972	CTG		0.622	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404830.3	NM_024959		20	55	0	0	0	1	0	20	55				
CEP164	22897	broad.mit.edu	37	11	117241960	117241960	+	Silent	SNP	T	T	C			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr11:117241960T>C	ENST00000278935.3	+	9	1077	c.930T>C	c.(928-930)ctT>ctC	p.L310L	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	310					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GACCTGGTCTTCCAGAAAAAG	0.562																																						ENST00000278935.3																			0				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47						c.(928-930)ctT>ctC		centrosomal protein 164kDa							94.0	101.0	99.0					11																	117241960		2201	4296	6497	SO:0001819	synonymous_variant	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117241960T>C	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.930T>C	11.37:g.117241960T>C						CEP164_ENST00000533706.1_3'UTR	p.L310L	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	9	1077	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	310					Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Silent	SNP	ENST00000278935.3	37	c.930T>C	CCDS31683.1																																																																																				0.562	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		51	95	0	0	0	1	0	51	95				
BAI1	575	broad.mit.edu	37	8	143614732	143614732	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr8:143614732G>A	ENST00000517894.1	+	25	4369	c.3475G>A	c.(3475-3477)Gac>Aac	p.D1159N	BAI1_ENST00000323289.5_Missense_Mutation_p.D1159N			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1159					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CGCCGTCACCGACCGCCGCTC	0.657																																						ENST00000517894.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(3475-3477)Gac>Aac		brain-specific angiogenesis inhibitor 1							21.0	29.0	26.0					8																	143614732		2198	4296	6494	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143614732G>A	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3475G>A	8.37:g.143614732G>A	ENSP00000430945:p.Asp1159Asn					BAI1_ENST00000323289.5_Missense_Mutation_p.D1159N	p.D1159N			O14514	BAI1_HUMAN			25	4369	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		1159						Missense_Mutation	SNP	ENST00000517894.1	37	c.3475G>A		.	.	.	.	.	.	.	.	.	.	G	29.0	4.970485	0.92919	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.44083	0.93;0.93	4.56	4.56	0.56223	.	0.000000	0.85682	U	0.000000	T	0.48466	0.1501	N	0.20845	0.615	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.41288	-0.9517	10	0.23302	T	0.38	.	16.6935	0.85328	0.0:0.0:1.0:0.0	.	1159	E9PBK0	.	N	1159	ENSP00000430945:D1159N;ENSP00000313046:D1159N	ENSP00000313046:D1159N	D	+	1	0	BAI1	143611734	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.484000	0.97940	2.236000	0.73375	0.655000	0.94253	GAC		0.657	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		10	32	0	0	0	1	0	10	32				
VGLL4	9686	broad.mit.edu	37	3	11744471	11744471	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr3:11744471G>T	ENST00000273038.3	-	2	403	c.38C>A	c.(37-39)tCt>tAt	p.S13Y	VGLL4_ENST00000404339.1_5'UTR	NM_001284391.1|NM_014667.2	NP_001271320.1|NP_055482.2	Q14135	VGLL4_HUMAN	vestigial-like family member 4	13					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.S13F(1)		NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		ATGCACCAGAGATGCTGCCCT	0.373																																						ENST00000273038.3																			1	Substitution - Missense(1)	p.S13F(1)	upper_aerodigestive_tract(1)	NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(37-39)tCt>tAt		vestigial like 4 (Drosophila)							62.0	63.0	62.0					3																	11744471		2203	4300	6503	SO:0001583	missense	9686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:11744471G>T	D50911	CCDS2606.1, CCDS46754.1, CCDS46755.1, CCDS46756.1, CCDS68342.1, CCDS68343.1	3p25.2	2014-03-03	2014-03-03		ENSG00000144560	ENSG00000144560			28966	protein-coding gene	gene with protein product			"""vestigial like 4 (Drosophila)"""			8590280, 15140898	Standard	NM_001284390		Approved	KIAA0121	uc010hdx.1	Q14135	OTTHUMG00000129739	ENST00000273038.3:c.38C>A	3.37:g.11744471G>T	ENSP00000273038:p.Ser13Tyr					VGLL4_ENST00000404339.1_5'UTR	p.S13Y	NM_014667.2	NP_055482.2	Q14135	VGLL4_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)	2	403	-			13					B4DTS7|J3KN68|Q7L5V0|Q9BQ78	Missense_Mutation	SNP	ENST00000273038.3	37	c.38C>A	CCDS2606.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.425993	0.25726	.	.	ENSG00000144560	ENST00000273038;ENST00000445411;ENST00000418000;ENST00000417206;ENST00000419541	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	5.28	4.38	0.52667	.	0.476618	0.21407	N	0.075049	T	0.55353	0.1915	L	0.34521	1.04	0.58432	D	0.999999	D	0.64830	0.994	D	0.67900	0.954	T	0.58020	-0.7710	10	0.87932	D	0	.	11.9948	0.53196	0.0:0.1746:0.8254:0.0	.	13	Q14135	VGLL4_HUMAN	Y	13	ENSP00000273038:S13Y;ENSP00000412923:S13Y;ENSP00000394439:S13Y;ENSP00000391932:S13Y;ENSP00000395557:S13Y	ENSP00000273038:S13Y	S	-	2	0	VGLL4	11719471	1.000000	0.71417	0.298000	0.25002	0.990000	0.78478	6.827000	0.75303	1.304000	0.44892	0.462000	0.41574	TCT		0.373	VGLL4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251950.2	NM_014667		3	18	1	0	0.115264	1	0.115264	3	18				
TUBB4A	10382	broad.mit.edu	37	19	6495508	6495508	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr19:6495508C>G	ENST00000264071.2	-	4	1373	c.1002G>C	c.(1000-1002)caG>caC	p.Q334H	TUBB4A_ENST00000540257.1_Missense_Mutation_p.Q334H|CTD-2396E7.9_ENST00000599292.1_RNA|CTD-2396E7.10_ENST00000596027.1_RNA			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	334					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										TGTTCTTGCTCTGCACGCTCA	0.667																																						ENST00000264071.2																			0											c.(1000-1002)caG>caC		tubulin, beta 4A class IVa							180.0	145.0	157.0					19																	6495508		2203	4300	6503	SO:0001583	missense	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6495508C>G	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.1002G>C	19.37:g.6495508C>G	ENSP00000264071:p.Gln334His					TUBB4A_ENST00000540257.1_Missense_Mutation_p.Q334H	p.Q334H			P04350	TBB4_HUMAN			4	1373	-			334					B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	37	c.1002G>C	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.298619	0.40694	.	.	ENSG00000104833	ENST00000264071;ENST00000540257;ENST00000412858	D;D	0.85013	-1.93;-1.93	3.43	2.37	0.29283	.	0.000000	0.64402	U	0.000005	D	0.93028	0.7781	M	0.93462	3.42	0.46798	D	0.999209	D	0.89917	1.0	D	0.97110	1.0	D	0.92153	0.5730	10	0.87932	D	0	.	9.4348	0.38632	0.0:0.8868:0.0:0.1132	.	334	P04350	TBB4A_HUMAN	H	334;334;252	ENSP00000264071:Q334H;ENSP00000443590:Q334H	ENSP00000264071:Q334H	Q	-	3	2	TUBB4	6446508	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.901000	0.56303	0.423000	0.26033	0.306000	0.20318	CAG		0.667	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		154	286	0	0	0	1	0	154	286				
HCFC1	3054	broad.mit.edu	37	X	153222853	153222853	+	Silent	SNP	G	G	A	rs201977456		TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chrX:153222853G>A	ENST00000310441.7	-	13	3231	c.2265C>T	c.(2263-2265)agC>agT	p.S755S	HCFC1_ENST00000354233.3_Silent_p.S686S|HCFC1_ENST00000461098.1_5'Flank|HCFC1_ENST00000369984.4_Silent_p.S755S	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	755	Interaction with ZBTB17.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGGGGAGACGCTGCTGATGC	0.647													G|||	1	0.000264901	0.0	0.0	3775	,	,		13282	0.0		0.001	False		,,,				2504	0.0					ENST00000310441.7																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2263-2265)agC>agT		host cell factor C1 (VP16-accessory protein)							110.0	119.0	116.0					X																	153222853		2166	4218	6384	SO:0001819	synonymous_variant	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153222853G>A		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.2265C>T	X.37:g.153222853G>A						HCFC1_ENST00000354233.3_Silent_p.S686S|HCFC1_ENST00000369984.4_Silent_p.S755S	p.S755S	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			13	3231	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		755			Interaction with ZBTB17.		Q6P4G5	Silent	SNP	ENST00000310441.7	37	c.2265C>T	CCDS44020.1																																																																																				0.647	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		100	46	0	0	0	1	0	100	46				
GAB2	9846	broad.mit.edu	37	11	77937837	77937837	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr11:77937837G>T	ENST00000361507.4	-	4	966	c.881C>A	c.(880-882)aCc>aAc	p.T294N	GAB2_ENST00000526030.1_5'Flank|GAB2_ENST00000340149.2_Missense_Mutation_p.T256N	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	294					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			CGTCTTGAAGGTGTACACATC	0.592																																						ENST00000361507.4																		INTS4/GAB2(2)	0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24						c.(880-882)aCc>aAc		GRB2-associated binding protein 2							77.0	69.0	72.0					11																	77937837		2200	4292	6492	SO:0001583	missense	9846				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr11:77937837G>T	AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"""Pleckstrin homology (PH) domain containing"""	14458	protein-coding gene	gene with protein product	"""Grb2-associated binder 2"""	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.881C>A	11.37:g.77937837G>T	ENSP00000354952:p.Thr294Asn					GAB2_ENST00000340149.2_Missense_Mutation_p.T256N	p.T294N	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)		4	966	-	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		294					A2RRM2|A6NEW9|A7MD36|O60317	Missense_Mutation	SNP	ENST00000361507.4	37	c.881C>A	CCDS8259.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.103585	0.37145	.	.	ENSG00000033327	ENST00000340149;ENST00000361507	T;T	0.17854	2.25;2.25	5.69	4.73	0.59995	.	0.154096	0.42548	U	0.000699	T	0.17916	0.0430	L	0.57536	1.79	0.48341	D	0.999634	P	0.47409	0.895	B	0.37943	0.261	T	0.02345	-1.1173	10	0.42905	T	0.14	-24.7356	14.7	0.69150	0.0:0.2653:0.7347:0.0	.	294	Q9UQC2	GAB2_HUMAN	N	256;294	ENSP00000343959:T256N;ENSP00000354952:T294N	ENSP00000343959:T256N	T	-	2	0	GAB2	77615485	1.000000	0.71417	1.000000	0.80357	0.067000	0.16453	5.042000	0.64202	2.700000	0.92200	0.561000	0.74099	ACC		0.592	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491		8	79	1	0	0.000274275	1	0.000282982	8	79				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	37	0	0	0	1	0	3	37				
ITSN1	6453	broad.mit.edu	37	21	35237515	35237515	+	Silent	SNP	C	C	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr21:35237515C>T	ENST00000381318.3	+	32	4239	c.3951C>T	c.(3949-3951)gaC>gaT	p.D1317D	ITSN1_ENST00000437442.2_Silent_p.D1312D|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399367.3_Silent_p.D1312D|ITSN1_ENST00000381285.4_Silent_p.D1317D|ITSN1_ENST00000399326.3_3'UTR	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1317	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TGATTGGAGACATCCTGAGCG	0.617																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(3949-3951)gaC>gaT		intersectin 1 (SH3 domain protein)							60.0	44.0	49.0					21																	35237515		2203	4300	6503	SO:0001819	synonymous_variant	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35237515C>T	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.3951C>T	21.37:g.35237515C>T						ITSN1_ENST00000399367.3_Silent_p.D1312D|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000381285.4_Silent_p.D1317D|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Silent_p.D1312D	p.D1317D	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			32	4239	+			1317			DH.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Silent	SNP	ENST00000381318.3	37	c.3951C>T	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	C	7.322	0.617208	0.14129	.	.	ENSG00000205726	ENST00000381284	.	.	.	5.78	4.89	0.63831	.	.	.	.	.	T	0.64068	0.2565	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61038	-0.7143	4	.	.	.	.	12.4845	0.55863	0.0:0.8681:0.0:0.1319	.	.	.	.	Y	53	.	.	H	+	1	0	ITSN1	34159385	1.000000	0.71417	1.000000	0.80357	0.628000	0.37860	2.264000	0.43302	2.726000	0.93360	0.561000	0.74099	CAT		0.617	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		7	26	0	0	0	1	0	7	26				
CEACAM7	1087	broad.mit.edu	37	19	42192031	42192031	+	Splice_Site	SNP	C	C	T			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr19:42192031C>T	ENST00000006724.3	-	1	265	c.64G>A	c.(64-66)Gcc>Acc	p.A22T	CEACAM7_ENST00000602225.1_Splice_Site_p.A22T|CEACAM7_ENST00000599715.1_Intron|CEACAM7_ENST00000401731.1_Splice_Site_p.A22T|CEACAM7_ENST00000338196.4_Splice_Site_p.A22T	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	22						anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		CTCCCCTCACCTGTGAGCAGG	0.632																																						ENST00000006724.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						c.e1+1		carcinoembryonic antigen-related cell adhesion molecule 7							63.0	56.0	58.0					19																	42192031		2203	4300	6503	SO:0001630	splice_region_variant	1087					anchored to membrane|integral to membrane|plasma membrane		g.chr19:42192031C>T	X98311	CCDS12583.1	19q13.2	2013-01-29			ENSG00000007306	ENSG00000007306		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1819	protein-coding gene	gene with protein product	"""carcinoembryonic antigen gene family member 2"""			CGM2		7806520, 9135022	Standard	XM_005278379		Approved	CEA	uc002ori.1	Q14002	OTTHUMG00000151063	ENST00000006724.3:c.64+1G>A	19.37:g.42192031C>T						CEACAM7_ENST00000401731.1_Splice_Site_p.A22_splice|CEACAM7_ENST00000599715.1_Intron|CEACAM7_ENST00000338196.4_Splice_Site_p.A22_splice|CEACAM7_ENST00000602225.1_Splice_Site_p.A22_splice	p.A22_splice	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)	1	265	-			22					A8K848|O15148|O15149|Q0VAC1|Q13983|Q9UPJ2	Splice_Site	SNP	ENST00000006724.3	37	c.64_splice	CCDS12583.1	.	.	.	.	.	.	.	.	.	.	-	19.11	3.764000	0.69878	.	.	ENSG00000007306	ENST00000006724;ENST00000412062;ENST00000401731;ENST00000338196	T;T;T	0.26810	1.71;1.71;4.33	1.67	1.67	0.24075	.	.	.	.	.	T	0.49592	0.1566	M	0.85542	2.76	0.20703	N	0.999867	D;D	0.89917	1.0;0.997	D;D	0.81914	0.995;0.981	T	0.20638	-1.0269	8	.	.	.	.	6.7921	0.23705	0.0:1.0:0.0:0.0	.	22;22	Q14002-2;Q14002	.;CEAM7_HUMAN	T	22	ENSP00000006724:A22T;ENSP00000385932:A22T;ENSP00000343286:A22T	.	A	-	1	0	CEACAM7	46883871	0.999000	0.42202	0.773000	0.31616	0.530000	0.34684	2.551000	0.45820	1.230000	0.43646	0.305000	0.20034	GCC		0.632	CEACAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321145.1	NM_006890	Missense_Mutation	21	49	0	0	0	1	0	21	49				
ZCCHC14	23174	broad.mit.edu	37	16	87451066	87451066	+	Splice_Site	SNP	C	C	G			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr16:87451066C>G	ENST00000268616.4	-	8	1189	c.972G>C	c.(970-972)aaG>aaC	p.K324N		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	324							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		ACCGACATACCTTCTCCATGG	0.493											OREG0024030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000268616.4																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.e8+1		zinc finger, CCHC domain containing 14							132.0	138.0	136.0					16																	87451066		2198	4300	6498	SO:0001630	splice_region_variant	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87451066C>G	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.972+1G>C	16.37:g.87451066C>G			OREG0024030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1252		p.K324_splice	NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	8	1189	-			324					D3DUN1|O60324|Q3MJD8|Q9UFP0	Splice_Site	SNP	ENST00000268616.4	37	c.972_splice	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.520236	0.85495	.	.	ENSG00000140948	ENST00000268616	T	0.51071	0.72	5.69	5.69	0.88448	Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.050637	0.85682	D	0.000000	T	0.59321	0.2185	L	0.29908	0.895	0.58432	D	0.999995	D;D	0.89917	0.996;1.0	D;D	0.87578	0.937;0.998	T	0.53954	-0.8365	9	.	.	.	-31.3334	19.8182	0.96579	0.0:1.0:0.0:0.0	.	324;324	Q8WYQ9-2;Q8WYQ9	.;ZCH14_HUMAN	N	324	ENSP00000268616:K324N	.	K	-	3	2	ZCCHC14	86008567	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	7.096000	0.76960	2.700000	0.92200	0.561000	0.74099	AAG		0.493	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144	Missense_Mutation	64	140	0	0	0	1	0	64	140				
DST	667	broad.mit.edu	37	6	56426236	56426236	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr6:56426236T>C	ENST00000361203.3	-	53	13554	c.13547A>G	c.(13546-13548)cAa>cGa	p.Q4516R	DST_ENST00000446842.2_Missense_Mutation_p.Q4192R|DST_ENST00000421834.2_Missense_Mutation_p.Q2430R|DST_ENST00000370754.5_Missense_Mutation_p.Q4696R|DST_ENST00000370788.2_Missense_Mutation_p.Q2430R|DST_ENST00000244364.6_Missense_Mutation_p.Q2104R|DST_ENST00000370769.4_Missense_Mutation_p.Q4518R|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	4516					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTGAGCCTTTTGCAATTTGGA	0.398																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(14086-14088)cAa>cGa		dystonin							221.0	194.0	202.0					6																	56426236		1892	4115	6007	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56426236T>C	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.13547A>G	6.37:g.56426236T>C	ENSP00000354508:p.Gln4516Arg					DST_ENST00000446842.2_Missense_Mutation_p.Q4192R|DST_ENST00000370788.2_Missense_Mutation_p.Q2430R|DST_ENST00000421834.2_Missense_Mutation_p.Q2430R|DST_ENST00000370769.4_Missense_Mutation_p.Q4518R|DST_ENST00000244364.6_Missense_Mutation_p.Q2104R|DST_ENST00000361203.3_Missense_Mutation_p.Q4516R|DST_ENST00000312431.6_3'UTR	p.Q4696R			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		57	14086	-	Lung NSC(77;0.103)		4516					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.14087A>G		.	.	.	.	.	.	.	.	.	.	T	20.6	4.020871	0.75275	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55;0.55	6.17	6.17	0.99709	.	0.000000	0.50627	D	0.000118	T	0.56731	0.2005	L	0.57536	1.79	0.23260	N	0.998023	D;P;P;P;B	0.64830	0.994;0.952;0.952;0.565;0.033	D;P;D;B;B	0.76575	0.988;0.879;0.915;0.341;0.033	T	0.54820	-0.8236	9	0.09843	T	0.71	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	2430;4518;4696;4516;2104	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	R	2104;4696;4518;2430;4192;2430;4516	ENSP00000244364:Q2104R;ENSP00000359790:Q4696R;ENSP00000359805:Q4518R;ENSP00000400883:Q2430R;ENSP00000393645:Q4192R;ENSP00000359824:Q2430R;ENSP00000354508:Q4516R	ENSP00000244364:Q2104R	Q	-	2	0	DST	56534195	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	4.186000	0.58337	2.371000	0.80710	0.533000	0.62120	CAA		0.398	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		4	46	0	0	0	1	0	4	46				
KIF26B	55083	broad.mit.edu	37	1	245850131	245850131	+	Silent	SNP	G	G	A			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr1:245850131G>A	ENST00000407071.2	+	12	4286	c.3846G>A	c.(3844-3846)ctG>ctA	p.L1282L	KIF26B_ENST00000366518.4_Silent_p.L901L	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1282					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GCTCCTGGCTGAGCGAGATGA	0.612																																						ENST00000366518.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(2701-2703)ctG>ctA		kinesin family member 26B							34.0	41.0	38.0					1																	245850131		2137	4231	6368	SO:0001819	synonymous_variant	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245850131G>A	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.3846G>A	1.37:g.245850131G>A						KIF26B_ENST00000407071.2_Silent_p.L1282L	p.L901L			Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		9	2807	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		1282					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	ENST00000407071.2	37	c.2703G>A	CCDS44342.1																																																																																				0.612	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		12	35	0	0	0	1	0	12	35				
UGT2B15	7366	broad.mit.edu	37	4	69536088	69536088	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr4:69536088T>A	ENST00000338206.5	-	1	258	c.249A>T	c.(247-249)aaA>aaT	p.K83N		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	83					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)									Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	CCAAATAATTTTTAGTTAAAG	0.308																																						ENST00000338206.5																			0											c.(247-249)aaA>aaT		UDP glucuronosyltransferase 2 family, polypeptide B15							78.0	92.0	87.0					4																	69536088		2199	4297	6496	SO:0001583	missense	7366				steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69536088T>A	AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"""UDP glucuronosyltransferases"""	12546	protein-coding gene	gene with protein product		600069	"""UDP glycosyltransferase 2 family, polypeptide B15"""			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.249A>T	4.37:g.69536088T>A	ENSP00000341045:p.Lys83Asn						p.K83N	NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN			1	258	-			83					A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Missense_Mutation	SNP	ENST00000338206.5	37	c.249A>T	CCDS3524.1	.	.	.	.	.	.	.	.	.	.	t	12.60	1.985671	0.35036	.	.	ENSG00000196620	ENST00000338206	T	0.61510	0.1	2.58	2.58	0.30949	.	0.747569	0.11660	U	0.541959	T	0.56761	0.2007	L	0.56769	1.78	0.09310	N	1	B	0.31153	0.31	B	0.38921	0.285	T	0.54262	-0.8320	10	0.56958	D	0.05	.	8.6201	0.33855	0.0:0.0:0.0:1.0	.	83	P54855	UDB15_HUMAN	N	83	ENSP00000341045:K83N	ENSP00000341045:K83N	K	-	3	2	UGT2B15	69218683	0.000000	0.05858	0.001000	0.08648	0.318000	0.28184	-0.219000	0.09228	1.163000	0.42636	0.363000	0.22086	AAA		0.308	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365172.1	NM_001076		31	81	0	0	0	1	0	31	81				
CHRNB4	1143	broad.mit.edu	37	15	78917350	78917350	+	3'UTR	SNP	T	T	G			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr15:78917350T>G	ENST00000261751.3	-	0	1733				RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000412074.2_Missense_Mutation_p.T215P	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)						action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	CTGTGGCTGGTTTGATGGGGT	0.572																																						ENST00000412074.2																			0				endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						c.(643-645)Acc>Ccc		cholinergic receptor, nicotinic, beta 4 (neuronal)																																				SO:0001624	3_prime_UTR_variant	1143				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78917350T>G	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1964	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 4 (neuronal)"""	118509	"""cholinergic receptor, nicotinic, beta polypeptide 4"""			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.*125A>C	15.37:g.78917350T>G						CHRNB4_ENST00000261751.3_3'UTR	p.T215P	NM_001256567.1	NP_001243496.1	P30926	ACHB4_HUMAN			5	754	-			0					A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Missense_Mutation	SNP	ENST00000261751.3	37	c.643A>C	CCDS10306.1	.	.	.	.	.	.	.	.	.	.	T	7.967	0.748270	0.15710	.	.	ENSG00000117971	ENST00000412074	T	0.77489	-1.1	3.07	0.657	0.17850	.	.	.	.	.	T	0.64227	0.2579	.	.	.	0.28889	N	0.893979	P	0.44578	0.838	B	0.38655	0.278	T	0.60747	-0.7202	8	0.87932	D	0	.	2.7342	0.05235	0.4025:0.1202:0.0:0.4772	.	215	E9PHE8	.	P	215	ENSP00000416386:T215P	ENSP00000416386:T215P	T	-	1	0	CHRNB4	76704405	0.005000	0.15991	0.054000	0.19295	0.299000	0.27559	0.981000	0.29526	0.109000	0.17891	0.533000	0.62120	ACC		0.572	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1			7	21	0	0	0	1	0	7	21				
SLITRK1	114798	broad.mit.edu	37	13	84455386	84455386	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr13:84455386C>G	ENST00000377084.2	-	1	1142	c.257G>C	c.(256-258)aGt>aCt	p.S86T		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	86					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CATGTGCAAACTAACCGCATT	0.453																																						ENST00000377084.2																			0				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80						c.(256-258)aGt>aCt		SLIT and NTRK-like family, member 1							70.0	72.0	72.0					13																	84455386		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84455386C>G	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.257G>C	13.37:g.84455386C>G	ENSP00000366288:p.Ser86Thr						p.S86T	NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	1142	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	86					Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.257G>C	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	C	6.493	0.459070	0.12342	.	.	ENSG00000178235	ENST00000377084	T	0.52057	0.68	4.79	3.94	0.45596	.	0.000000	0.85682	D	0.000000	T	0.35537	0.0935	L	0.35723	1.085	0.43007	D	0.994539	B	0.33103	0.397	B	0.30716	0.119	T	0.12167	-1.0558	10	0.21540	T	0.41	-8.7329	13.1986	0.59754	0.1607:0.8393:0.0:0.0	.	86	Q96PX8	SLIK1_HUMAN	T	86	ENSP00000366288:S86T	ENSP00000366288:S86T	S	-	2	0	SLITRK1	83353387	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.831000	0.55776	1.219000	0.43474	0.561000	0.74099	AGT		0.453	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		29	44	0	0	0	1	0	29	44				
TANC1	85461	broad.mit.edu	37	2	160035657	160035657	+	Silent	SNP	C	C	G			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr2:160035657C>G	ENST00000263635.6	+	14	2730	c.2493C>G	c.(2491-2493)gcC>gcG	p.A831A	TANC1_ENST00000454300.1_Silent_p.A725A	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	831					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AAAACACGGCCTTCCTGTGTG	0.537																																						ENST00000263635.6																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(2491-2493)gcC>gcG		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							62.0	64.0	64.0					2																	160035657		1935	4133	6068	SO:0001819	synonymous_variant	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160035657C>G	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.2493C>G	2.37:g.160035657C>G						TANC1_ENST00000454300.1_Silent_p.A725A	p.A831A	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			14	2730	+			831					C9JD88|Q49AI8	Silent	SNP	ENST00000263635.6	37	c.2493C>G	CCDS42766.1																																																																																				0.537	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			46	77	0	0	0	1	0	46	77				
MEFV	4210	broad.mit.edu	37	16	3299765	3299765	+	Missense_Mutation	SNP	G	G	A	rs104895155	byFrequency	TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr16:3299765G>A	ENST00000219596.1	-	3	965	c.926C>T	c.(925-927)aCg>aTg	p.T309M	MEFV_ENST00000541159.1_Missense_Mutation_p.T98M|MEFV_ENST00000536379.1_Missense_Mutation_p.T98M|MEFV_ENST00000339854.4_Missense_Mutation_p.T129M	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	309					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						ACTCGCAGCCGTGTCTGGTGG	0.602																																						ENST00000219596.1																			0				NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50	GRCh37	CM060331	MEFV	M	rs104895155	c.(925-927)aCg>aTg		Mediterranean fever	Colchicine(DB01394)	G	MET/THR,MET/THR	3,4391	6.2+/-15.9	0,3,2194	30.0	34.0	33.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	926,293	0.3	0.0	16	dbSNP_132	33	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MEFV	NM_000243.2,NM_001198536.1	81,81	0,4,6493	AA,AG,GG		0.0116,0.0683,0.0308	possibly-damaging,possibly-damaging	309/782,98/446	3299765	4,12990	2197	4300	6497	SO:0001583	missense	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3299765G>A	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.926C>T	16.37:g.3299765G>A	ENSP00000219596:p.Thr309Met					MEFV_ENST00000541159.1_Missense_Mutation_p.T98M|MEFV_ENST00000339854.4_Missense_Mutation_p.T129M|MEFV_ENST00000536379.1_Missense_Mutation_p.T98M	p.T309M	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			3	965	-			309					D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	c.926C>T	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	G	6.338	0.430403	0.12045	6.83E-4	1.16E-4	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000541159;ENST00000536379;ENST00000534868	T;T;T;T	0.64991	-0.13;0.32;0.18;0.27	3.86	0.307	0.15811	.	1.137710	0.06499	N	0.735966	T	0.34337	0.0894	N	0.08118	0	0.09310	N	1	P	0.39116	0.66	B	0.27715	0.082	T	0.26087	-1.0113	10	0.87932	D	0	.	4.7259	0.12941	0.0:0.1067:0.3927:0.5007	.	309	O15553	MEFV_HUMAN	M	309;309;129;98;98;98	ENSP00000219596:T309M;ENSP00000339639:T129M;ENSP00000438711:T98M;ENSP00000445079:T98M	ENSP00000219596:T309M	T	-	2	0	MEFV	3239766	0.013000	0.17824	0.012000	0.15200	0.020000	0.10135	0.351000	0.20096	0.023000	0.15187	-0.525000	0.04345	ACG		0.602	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		7	38	0	0	0	1	0	7	38				
CAMK1	8536	broad.mit.edu	37	3	9799263	9799263	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr3:9799263G>A	ENST00000256460.3	-	12	1250	c.1073C>T	c.(1072-1074)cCg>cTg	p.P358L	OGG1_ENST00000383826.5_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000349503.5_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	358					cell cycle (GO:0007049)|nucleocytoplasmic transport (GO:0006913)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of synapse structural plasticity (GO:0051835)|protein phosphorylation (GO:0006468)|regulation of muscle cell differentiation (GO:0051147)|regulation of protein binding (GO:0043393)|regulation of protein localization (GO:0032880)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		TTCTGTGCCCGGCTCCACGCA	0.692																																						ENST00000256460.3																			0				endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12						c.(1072-1074)cCg>cTg		calcium/calmodulin-dependent protein kinase I							37.0	42.0	40.0					3																	9799263		2203	4300	6503	SO:0001583	missense	8536				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr3:9799263G>A	L41816	CCDS2582.1	3p25.3	2004-02-27			ENSG00000134072	ENSG00000134072			1459	protein-coding gene	gene with protein product		604998				7641687	Standard	NM_003656		Approved	CaMKI	uc003bst.3	Q14012	OTTHUMG00000128419	ENST00000256460.3:c.1073C>T	3.37:g.9799263G>A	ENSP00000256460:p.Pro358Leu					OGG1_ENST00000349503.5_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302036.7_Intron	p.P358L	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0475)	12	1250	-	Medulloblastoma(99;0.227)		358					Q3KPF6	Missense_Mutation	SNP	ENST00000256460.3	37	c.1073C>T	CCDS2582.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.509896	0.44660	.	.	ENSG00000134072	ENST00000256460;ENST00000421120	T	0.65916	-0.18	4.74	3.82	0.43975	.	0.397901	0.25375	N	0.031124	T	0.39809	0.1092	N	0.08118	0	0.41047	D	0.985276	B	0.26120	0.142	B	0.19946	0.027	T	0.39014	-0.9634	10	0.72032	D	0.01	-16.0741	9.9453	0.41604	0.0:0.0:0.6306:0.3694	.	358	Q14012	KCC1A_HUMAN	L	358;240	ENSP00000256460:P358L	ENSP00000256460:P358L	P	-	2	0	CAMK1	9774263	0.980000	0.34600	0.840000	0.33206	0.360000	0.29518	2.224000	0.42945	1.267000	0.44247	0.655000	0.94253	CCG		0.692	CAMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250206.1	NM_003656		7	102	0	0	0	1	0	7	102				
MROH5	389690	broad.mit.edu	37	8	142459777	142459778	+	RNA	INS	-	-	A	rs144781370|rs551918924	byFrequency	TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr8:142459777_142459778insA	ENST00000430863.1	-	0	2629_2630				SNORD5_ENST00000458800.1_RNA	NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		GCAGACAGGCCAGCAGTGTGGT	0.678													A|A|AA|insertion	278	0.0555112	0.1331	0.0403	5008	,	,		17224	0.0		0.0557	False		,,,				2504	0.0184					ENST00000430863.1																			0													maestro heat-like repeat family member 5				474,3476		80,314,1581						3.1	0.5		dbSNP_134	17	475,7371		49,377,3497	no	frameshift	FLJ43860	NM_207414.2		129,691,5078	A1A1,A1R,RR		6.054,12.0,8.0451				949,10847						389690							g.chr8:142459777_142459778insA			8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142459778_142459778dupA								NM_207414.2	NP_997297.2					0	2629_2630	-									RNA	INS	ENST00000430863.1	37																																																																																						0.678	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		4	3						4	3	---	---	---	---
ACTN3	89	broad.mit.edu	37	11	66326857	66326859	+	lincRNA	DEL	AGT	AGT	-			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr11:66326857_66326859delAGT	ENST00000504911.1	-	0	220				ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA																							CAGGAGCTCAAGTAggcggggcc	0.729																																						ENST00000504911.1																			0																																																			0							g.chr11:66326857_66326859delAGT																													11.37:g.66326857_66326859delAGT						ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA								0	220	-									RNA	DEL	ENST00000504911.1	37																																																																																						0.729	CTD-3074O7.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000362463.1			7	16						7	16	---	---	---	---
OTX2-AS1	100309464	broad.mit.edu	37	14	57509058	57509064	+	RNA	DEL	TCCAAGC	TCCAAGC	-	rs369895963	byFrequency	TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr14:57509058_57509064delTCCAAGC	ENST00000554725.1	+	0	344									OTX2 antisense RNA 1 (head to head)																		CCAGAAGCCTTCCAAGCTCCAAGCCCT	0.483														289	0.0577077	0.0681	0.0548	5008	,	,		16601	0.003		0.1352	False		,,,				2504	0.0225					ENST00000554725.1																			0																																																			0							g.chr14:57509058_57509064delTCCAAGC	BC041486		14q22.3	2012-10-19	2012-10-17		ENSG00000248550	ENSG00000248550		"""Long non-coding RNAs"", ""-"""	43906	non-coding RNA	RNA, long non-coding			"""OTX2 antisense RNA 1 (non-protein coding)"", ""OTX2 antisense RNA 1"""			15703187	Standard	NR_029385		Approved	OTX2OS1	uc001xcr.3		OTTHUMG00000171304		14.37:g.57509065_57509071delTCCAAGC														0	344	+									RNA	DEL	ENST00000554725.1	37																																																																																						0.483	OTX2-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000412895.1	NR_029385		4	8						4	8	---	---	---	---
ARID3A	1820	broad.mit.edu	37	19	932529	932529	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr19:932529delC	ENST00000263620.3	+	3	807	c.480delC	c.(478-480)ggcfs	p.G160fs		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	160						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		aggGGCTGGGCCCCCCAGGCC	0.692																																					Pancreas(29;54 1022 32760 50921)	ENST00000263620.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10						c.(478-480)ggfs		AT rich interactive domain 3A (BRIGHT-like)							11.0	7.0	9.0					19																	932529		2104	4166	6270	SO:0001589	frameshift_variant	1820					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:932529delC	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"""-"""	3031	protein-coding gene	gene with protein product		603265	"""dead ringer-like 1 (Drosophila)"", ""AT rich interactive domain 3A (BRIGHT- like)"""	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.480delC	19.37:g.932529delC	ENSP00000263620:p.Gly160fs						p.G160fs	NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	807	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	160					Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Frame_Shift_Del	DEL	ENST00000263620.3	37	c.480delC	CCDS12050.1																																																																																				0.692	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224		6	10						6	10	---	---	---	---
MAPRE1	22919	broad.mit.edu	37	20	31421540	31421540	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr20:31421540delT	ENST00000375571.5	+	3	278	c.139delT	c.(139-141)tttfs	p.F47fs		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	47	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of microtubule plus-end binding (GO:1903033)|protein localization to microtubule (GO:0035372)	cell projection membrane (GO:0031253)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule plus-end (GO:0035371)	microtubule plus-end binding (GO:0051010)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						GTATTGTCAGTTTATGGACAT	0.413																																						ENST00000375571.5																			0				endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						c.(139-141)ttfs		microtubule-associated protein, RP/EB family, member 1							162.0	146.0	151.0					20																	31421540		2203	4300	6503	SO:0001589	frameshift_variant	22919				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding	g.chr20:31421540delT	U24166	CCDS13208.1	20q11.1-q11.3	2013-01-17			ENSG00000101367	ENSG00000101367			6890	protein-coding gene	gene with protein product	"""adenomatous polyposis coli-binding protein EB1"""	603108				7606712, 9724749, 11470413	Standard	NM_012325		Approved	EB1	uc002wyh.3	Q15691	OTTHUMG00000032228	ENST00000375571.5:c.139delT	20.37:g.31421540delT	ENSP00000364721:p.Phe47fs						p.F47fs	NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN			3	278	+			47			CH.		B2R6I7|E1P5M8|Q3KQS8	Frame_Shift_Del	DEL	ENST00000375571.5	37	c.139delT	CCDS13208.1																																																																																				0.413	MAPRE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078647.2	NM_012325		27	48						27	48	---	---	---	---
RPS6KA6	27330	broad.mit.edu	37	X	83411191	83411194	+	Frame_Shift_Del	DEL	TCCT	TCCT	-			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chrX:83411191_83411194delTCCT	ENST00000262752.2	-	3	154_157	c.147_150delAGGA	c.(145-150)gaaggafs	p.EG49fs	RPS6KA6_ENST00000543399.1_Frame_Shift_Del_p.EG49fs	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	49					axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						CTTTAACAACTCCTTCATCCTGTA	0.358																																						ENST00000262752.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						c.(145-150)gafs		ribosomal protein S6 kinase, 90kDa, polypeptide 6																																				SO:0001589	frameshift_variant	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83411191_83411194delTCCT	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.147_150delAGGA	X.37:g.83411191_83411194delTCCT	ENSP00000262752:p.Glu49fs					RPS6KA6_ENST00000543399.1_Frame_Shift_Del_p.EG49fs	p.EG49fs	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN			3	154_157	-			49					B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Frame_Shift_Del	DEL	ENST00000262752.2	37	c.147_150delAGGA	CCDS14451.1																																																																																				0.358	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496		4	8						4	8	---	---	---	---
