#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count
CCDC88B	283234	hgsc.bcm.edu;broad.mit.edu	37	11	64120928	64120928	+	Missense_Mutation	SNP	G	G	C			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr11:64120928G>C	ENST00000356786.5	+	22	3837	c.3793G>C	c.(3793-3795)Gag>Cag	p.E1265Q	CCDC88B_ENST00000359902.2_Missense_Mutation_p.E417Q|CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1265						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCGCAGCCTGGAGAGTCGGGA	0.677																																																0													25.0	33.0	30.0					11																	64120928		2200	4296	6496	SO:0001583	missense	283234			AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.3793G>C	11.37:g.64120928G>C	ENSP00000349238:p.Glu1265Gln		A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	g	17.47	3.397124	0.62177	.	.	ENSG00000168071	ENST00000377638;ENST00000356786;ENST00000359902	T;T	0.60299	0.2;0.2	3.45	3.45	0.39498	.	.	.	.	.	T	0.55016	0.1894	N	0.17082	0.46	0.80722	D	1	D;D;P;D	0.69078	0.993;0.997;0.782;0.993	P;P;B;P	0.61592	0.722;0.891;0.187;0.722	T	0.56842	-0.7912	9	0.49607	T	0.09	.	10.5684	0.45186	0.0:0.0:1.0:0.0	.	1265;1147;401;1265	B2RTU8;A6NC98-4;A6NC98-5;A6NC98	.;.;.;CC88B_HUMAN	Q	1147;1265;417	ENSP00000349238:E1265Q;ENSP00000352974:E417Q	ENSP00000349238:E1265Q	E	+	1	0	CCDC88B	63877504	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.218000	0.65257	1.915000	0.55452	0.407000	0.27541	GAG		0.677	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		7	19	7	19
GUCY2C	2984	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	14794127	14794127	+	Missense_Mutation	SNP	G	G	A	rs148314105		TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr12:14794127G>A	ENST00000261170.3	-	18	2093	c.1957C>T	c.(1957-1959)Cgc>Tgc	p.R653C		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	653	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	TTGGCTTGGCGGAGGTGCTCT	0.498																																																0								G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	122.0	105.0	111.0		1957	4.4	1.0	12	dbSNP_134	111	0,8600		0,0,4300	no	missense	GUCY2C	NM_004963.3	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	653/1074	14794127	1,13005	2203	4300	6503	SO:0001583	missense	2984				CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.1957C>T	12.37:g.14794127G>A	ENSP00000261170:p.Arg653Cys		B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.305444	0.81247	2.27E-4	0.0	ENSG00000070019	ENST00000261170	D	0.83419	-1.72	5.34	4.41	0.53225	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90521	0.7030	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.91727	0.5393	10	0.87932	D	0	.	15.3438	0.74317	0.0:0.0:0.8597:0.1403	.	653	P25092	GUC2C_HUMAN	C	653	ENSP00000261170:R653C	ENSP00000261170:R653C	R	-	1	0	GUCY2C	14685394	1.000000	0.71417	0.982000	0.44146	0.973000	0.67179	3.857000	0.55972	2.495000	0.84180	0.655000	0.94253	CGC		0.498	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			19	62	19	62
TXNDC16	57544	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	14	52922041	52922041	+	Splice_Site	SNP	C	C	T			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr14:52922041C>T	ENST00000281741.4	-	18	2214		c.e18+1		TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16						cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					AACATACTCACAAACATTTCC	0.358																																																0													153.0	138.0	143.0					14																	52922041		2203	4300	6503	SO:0001630	splice_region_variant	57544			AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"""KIAA1344"""	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.1842+1G>A	14.37:g.52922041C>T			A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Splice_Site	SNP	ENST00000281741.4	37	CCDS32083.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.519022	0.27211	.	.	ENSG00000087301	ENST00000281741	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0728	0.72053	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TXNDC16	51991791	1.000000	0.71417	1.000000	0.80357	0.179000	0.23085	3.978000	0.56881	2.407000	0.81776	0.563000	0.77884	.		0.358	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	XM_051699	Intron	14	44	14	44
IGF1R	3480	hgsc.bcm.edu;broad.mit.edu	37	15	99434555	99434555	+	Splice_Site	SNP	G	G	A			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr15:99434555G>A	ENST00000268035.6	+	3	1253	c.642G>A	c.(640-642)atG>atA	p.M214I	RP11-654A16.1_ENST00000558736.1_RNA|IGF1R_ENST00000560432.1_3'UTR|IGF1R_ENST00000558762.1_Splice_Site_p.M214I	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	214					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	TCTCCACAGTGTGCCCAAGCA	0.647																																																0													28.0	24.0	25.0					15																	99434555		2196	4297	6493	SO:0001630	splice_region_variant	3480			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.641-1G>A	15.37:g.99434555G>A			B1B5Y2|Q14CV2|Q9UCC0	Splice_Site	SNP	ENST00000268035.6	37	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	G	9.562	1.118690	0.20877	.	.	ENSG00000140443	ENST00000268035	D	0.97186	-4.28	5.12	2.1	0.27182	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.428542	0.23222	N	0.050560	D	0.91168	0.7218	N	0.13098	0.295	0.39066	D	0.960613	B;B	0.14012	0.009;0.0	B;B	0.16722	0.016;0.006	T	0.83277	-0.0040	10	0.21540	T	0.41	.	10.0243	0.42061	0.0713:0.2615:0.6672:0.0	.	214;214	C9J5X1;P08069	.;IGF1R_HUMAN	I	214	ENSP00000268035:M214I	ENSP00000268035:M214I	M	+	3	0	IGF1R	97252078	1.000000	0.71417	0.999000	0.59377	0.469000	0.32828	1.295000	0.33377	0.231000	0.21079	0.561000	0.74099	ATG		0.647	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875	Missense_Mutation	7	11	7	11
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7578458	7578458	+	Missense_Mutation	SNP	G	G	C	rs587780068		TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:7578458G>C	ENST00000269305.4	-	5	661	c.472C>G	c.(472-474)Cgc>Ggc	p.R158G	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R158G|TP53_ENST00000455263.2_Missense_Mutation_p.R158G|TP53_ENST00000445888.2_Missense_Mutation_p.R158G|TP53_ENST00000359597.4_Missense_Mutation_p.R158G|TP53_ENST00000413465.2_Missense_Mutation_p.R158G	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	158	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R158C(17)|p.R158G(16)|p.0?(8)|p.R158fs(6)|p.R158fs*12(6)|p.R158fs*11(6)|p.R65fs(2)|p.R65G(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.R26G(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.R156fs*12(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(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)	GCCATGGCGCGGACGCGGGTG	0.622		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	98	Substitution - Missense(38)|Deletion - Frameshift(26)|Deletion - In frame(13)|Complex(10)|Whole gene deletion(8)|Complex - frameshift(2)|Insertion - Frameshift(1)	lung(25)|central_nervous_system(21)|stomach(7)|large_intestine(6)|haematopoietic_and_lymphoid_tissue(6)|skin(6)|upper_aerodigestive_tract(5)|breast(4)|oesophagus(4)|bone(4)|urinary_tract(3)|ovary(2)|pancreas(2)|liver(2)|soft_tissue(1)	GRCh37	CM004341	TP53	M							51.0	52.0	51.0					17																	7578458		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.472C>G	17.37:g.7578458G>C	ENSP00000269305:p.Arg158Gly		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.539522	0.45176	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99867	-7.31;-7.31;-7.31;-7.31;-7.31;-7.31;-7.31;-7.31;-7.31	5.59	3.57	0.40892	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110116	0.64402	D	0.000010	D	0.99851	0.9931	M	0.92026	3.265	0.58432	D	0.999995	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.992;0.994;0.998;0.996;0.994;1.0	D	0.97453	1.0029	10	0.87932	D	0	-10.4795	9.778	0.40632	0.0776:0.1408:0.7816:0.0	.	119;158;158;65;158;158;158	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	G	158;158;158;158;158;158;147;65;26;65;26;158	ENSP00000410739:R158G;ENSP00000352610:R158G;ENSP00000269305:R158G;ENSP00000398846:R158G;ENSP00000391127:R158G;ENSP00000391478:R158G;ENSP00000425104:R26G;ENSP00000423862:R65G;ENSP00000424104:R158G	ENSP00000269305:R158G	R	-	1	0	TP53	7519183	1.000000	0.71417	0.034000	0.17996	0.178000	0.23041	2.597000	0.46214	0.818000	0.34468	0.655000	0.94253	CGC		0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		20	37	20	37
FAM83G	644815	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	18874945	18874945	+	Silent	SNP	G	G	A	rs200181954	byFrequency	TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:18874945G>A	ENST00000388995.6	-	6	2422	c.2199C>T	c.(2197-2199)aaC>aaT	p.N733N	SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000345041.4_Silent_p.N733N|FAM83G_ENST00000585154.2_Silent_p.N733N|SLC5A10_ENST00000317977.6_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	733					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CTGGGCCAGCGTTTCTGGTAG	0.642													G|||	2	0.000399361	0.0015	0.0	5008	,	,		14908	0.0		0.0	False		,,,				2504	0.0															0								G	,,	0,3884		0,0,1942	36.0	44.0	42.0		2199,,	-4.8	0.0	17		42	2,8228		0,2,4113	no	coding-synonymous,intron,intron	SLC5A10,FAM83G	NM_001039999.2,NM_001042450.1,NM_152351.3	,,	0,2,6055	AA,AG,GG		0.0243,0.0,0.0165	,,	733/824,,	18874945	2,12112	1942	4115	6057	SO:0001819	synonymous_variant	644815			AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.2199C>T	17.37:g.18874945G>A			Q3KQZ4|Q6ZW60	Silent	SNP	ENST00000388995.6	37	CCDS42276.1																																																																																				0.642	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			10	43	10	43
NF1	4763	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	29677227	29677227	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:29677227C>T	ENST00000358273.4	+	50	7731	c.7348C>T	c.(7348-7350)Cga>Tga	p.R2450*	NF1_ENST00000444181.2_Nonsense_Mutation_p.R243*|NF1_ENST00000417592.2_Nonsense_Mutation_p.R163*|NF1_ENST00000356175.3_Nonsense_Mutation_p.R2429*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2450					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.R2450*(6)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGAAGAAGTTCGAAGTCGCTG	0.363			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	17	Whole gene deletion(8)|Substitution - Nonsense(6)|Unknown(3)	soft_tissue(10)|autonomic_ganglia(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|central_nervous_system(1)|lung(1)	GRCh37	CD000998|CM000818	NF1	D|M							159.0	145.0	150.0					17																	29677227		2203	4300	6503	SO:0001587	stop_gained	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7348C>T	17.37:g.29677227C>T	ENSP00000351015:p.Arg2450*		O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.276767	0.80580	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181;ENST00000417592	.	.	.	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.382	0.66916	0.1478:0.8522:0.0:0.0	.	.	.	.	X	2450;2429;2095;243;163	.	ENSP00000348498:R2429X	R	+	1	2	NF1	26701353	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.331000	0.43894	2.626000	0.88956	0.563000	0.77884	CGA		0.363	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		26	104	26	104
MAPRE2	10982	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	18	32677539	32677539	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr18:32677539G>T	ENST00000300249.5	+	3	560	c.380G>T	c.(379-381)cGa>cTa	p.R127L	MAPRE2_ENST00000436190.2_Missense_Mutation_p.R115L|MAPRE2_ENST00000413393.1_Missense_Mutation_p.R84L|MAPRE2_ENST00000538170.2_Missense_Mutation_p.R74L|MAPRE2_ENST00000588910.1_Missense_Mutation_p.R127L|MAPRE2_ENST00000589699.1_Missense_Mutation_p.R84L	NM_014268.3	NP_055083.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	127	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						TCATTTAAGCGAATGAACGTT	0.343																																																0													64.0	63.0	63.0					18																	32677539		2203	4300	6503	SO:0001583	missense	10982			X94232	CCDS11910.1, CCDS45850.1, CCDS45851.1, CCDS58619.1	18q12.1	2013-01-17			ENSG00000166974	ENSG00000166974			6891	protein-coding gene	gene with protein product	"""APC-binding protein EB1"""	605789				9233623, 12475954	Standard	NM_001143826		Approved	RP1, EB1, EB2	uc010xcc.3	Q15555	OTTHUMG00000132551	ENST00000300249.5:c.380G>T	18.37:g.32677539G>T	ENSP00000300249:p.Arg127Leu		B2RE21|B3KR39|B4DJV4|B7Z2L3|E9PHR3|F5H1V8|G5E9I6|Q9UQ33	Missense_Mutation	SNP	ENST00000300249.5	37	CCDS11910.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124928	0.77436	.	.	ENSG00000166974	ENST00000413393;ENST00000436190;ENST00000300249;ENST00000538170	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.88	5.88	0.94601	Calponin homology domain (4);	0.000000	0.85682	D	0.000000	T	0.61702	0.2368	M	0.69823	2.125	0.58432	D	0.99999	P;D;D;P	0.60575	0.951;0.988;0.979;0.934	P;D;D;P	0.65684	0.857;0.937;0.927;0.543	T	0.63875	-0.6538	10	0.87932	D	0	-9.992	13.4298	0.61049	0.0718:0.0:0.9282:0.0	.	115;74;127;127	E9PHR3;F5H1V8;Q15555;Q15555-2	.;.;MARE2_HUMAN;.	L	84;115;127;74	ENSP00000396074:R84L;ENSP00000407723:R115L;ENSP00000300249:R127L;ENSP00000446343:R74L	ENSP00000300249:R127L	R	+	2	0	MAPRE2	30931537	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.062000	0.89475	2.782000	0.95742	0.585000	0.79938	CGA		0.343	MAPRE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255753.2	NM_014268		8	36	8	36
DYM	54808	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	18	46812851	46812851	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr18:46812851G>A	ENST00000269445.6	-	9	1356	c.899C>T	c.(898-900)gCg>gTg	p.A300V	DYM_ENST00000442713.2_Missense_Mutation_p.A110V	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	300					bone development (GO:0060348)|Golgi organization (GO:0007030)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	enzyme binding (GO:0019899)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						GGGGTTTGGCGCATCTGAGGC	0.488																																																0																																										SO:0001583	missense	54808			AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627			21317	protein-coding gene	gene with protein product		607461					Standard	NM_017653		Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.899C>T	18.37:g.46812851G>A	ENSP00000269445:p.Ala300Val		A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	Missense_Mutation	SNP	ENST00000269445.6	37	CCDS11937.1	.	.	.	.	.	.	.	.	.	.	G	4.654	0.121519	0.08881	.	.	ENSG00000141627	ENST00000442713;ENST00000269445	D;D	0.83075	-1.68;-1.68	5.82	3.07	0.35406	.	0.534254	0.23386	N	0.048756	T	0.62429	0.2427	N	0.12182	0.205	0.19945	N	0.999947	B;B;B	0.20988	0.05;0.0;0.036	B;B;B	0.16722	0.016;0.002;0.005	T	0.45145	-0.9281	10	0.10111	T	0.7	-2.5952	6.3381	0.21306	0.2143:0.1317:0.654:0.0	.	110;122;300	Q7RTS9-2;Q9NXS9;Q7RTS9	.;.;DYM_HUMAN	V	110;300	ENSP00000395942:A110V;ENSP00000269445:A300V	ENSP00000269445:A300V	A	-	2	0	DYM	45066849	0.044000	0.20184	0.001000	0.08648	0.035000	0.12851	2.410000	0.44592	0.375000	0.24679	-0.137000	0.14449	GCG		0.488	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255912.3	NM_017653		17	117	17	117
LILRA1	11024	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	55107882	55107882	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr19:55107882G>A	ENST00000251372.3	+	7	1369	c.1187G>A	c.(1186-1188)aGg>aAg	p.R396K	LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000453777.1_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	396	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GGGACCTACAGGTGCTACGGC	0.587																																																0													145.0	132.0	136.0					19																	55107882		2203	4300	6503	SO:0001583	missense	11024			AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.1187G>A	19.37:g.55107882G>A	ENSP00000251372:p.Arg396Lys		O75018|Q3MJA6	Missense_Mutation	SNP	ENST00000251372.3	37	CCDS12901.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.447245	0.43429	.	.	ENSG00000104974	ENST00000251372	T	0.03065	4.06	1.8	-0.653	0.11447	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.471727	0.15809	N	0.243546	T	0.17408	0.0418	M	0.94063	3.49	0.25676	N	0.98584	D	0.63880	0.993	D	0.67382	0.951	T	0.03630	-1.1018	10	0.87932	D	0	.	4.4027	0.11393	0.3901:0.0:0.6099:0.0	.	396	O75019	LIRA1_HUMAN	K	396	ENSP00000251372:R396K	ENSP00000251372:R396K	R	+	2	0	LILRA1	59799694	0.997000	0.39634	0.415000	0.26534	0.024000	0.10985	0.912000	0.28597	-0.077000	0.12752	0.205000	0.17691	AGG		0.587	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		22	100	22	100
LMF2	91289	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	22	50943889	50943889	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr22:50943889C>A	ENST00000474879.2	-	7	1009	c.994G>T	c.(994-996)Gtg>Ttg	p.V332L	NCAPH2_ENST00000395701.3_5'Flank|NCAPH2_ENST00000299821.11_5'Flank|LMF2_ENST00000380796.3_Missense_Mutation_p.V332L|NCAPH2_ENST00000420993.2_5'Flank|LMF2_ENST00000216080.5_Missense_Mutation_p.V307L|LMF2_ENST00000505981.1_5'Flank|NCAPH2_ENST00000395698.3_5'Flank	NM_033200.2	NP_149977.2	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	332						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AAGTAGTGCACAGTGCCATAG	0.662																																																0													59.0	67.0	64.0					22																	50943889		2203	4298	6501	SO:0001583	missense	91289			BC002942	CCDS14093.1, CCDS14093.2	22q13.33	2008-02-04	2007-11-29	2007-11-29	ENSG00000100258	ENSG00000100258			25096	protein-coding gene	gene with protein product			"""transmembrane protein 153"", ""transmembrane protein 112B"""	TMEM153, TMEM112B		12477932	Standard	NM_033200		Approved		uc003blp.2	Q9BU23	OTTHUMG00000150206	ENST00000474879.2:c.994G>T	22.37:g.50943889C>A	ENSP00000424381:p.Val332Leu		A6NEZ0|Q13392|Q6ZNR2|Q8WU74|Q96C62	Missense_Mutation	SNP	ENST00000474879.2	37	CCDS14093.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.16|11.16	1.555622|1.555622	0.27739|0.27739	.|.	.|.	ENSG00000100258|ENSG00000100258	ENST00000487499|ENST00000380796;ENST00000474879;ENST00000216080	.|T;T;T	.|0.20598	.|2.06;2.06;2.06	5.12|5.12	1.74|1.74	0.24563|0.24563	.|.	.|0.377354	.|0.29403	.|N	.|0.012254	T|T	0.22044|0.22044	0.0531|0.0531	M|M	0.70275|0.70275	2.135|2.135	0.09310|0.09310	N|N	1|1	.|B;B	.|0.18166	.|0.02;0.026	.|B;B	.|0.19666	.|0.026;0.015	T|T	0.19418|0.19418	-1.0306|-1.0306	5|10	.|0.33141	.|T	.|0.24	-17.1648|-17.1648	9.3842|9.3842	0.38333|0.38333	0.0:0.7545:0.0:0.2455|0.0:0.7545:0.0:0.2455	.|.	.|332;307	.|Q9BU23;Q9BU23-2	.|LMF2_HUMAN;.	F|L	338|332;332;307	.|ENSP00000370173:V332L;ENSP00000424381:V332L;ENSP00000216080:V307L	.|ENSP00000216080:V307L	C|V	-|-	2|1	0|0	LMF2|LMF2	49290755|49290755	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.796000|0.796000	0.44982|0.44982	-0.419000|-0.419000	0.07071|0.07071	0.153000|0.153000	0.19213|0.19213	0.655000|0.655000	0.94253|0.94253	TGT|GTG		0.662	LMF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316833.2	NM_033200		21	96	21	96
KIDINS220	57498	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	8958894	8958894	+	Silent	SNP	G	G	A	rs377042462		TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr2:8958894G>A	ENST00000256707.3	-	3	319	c.138C>T	c.(136-138)gcC>gcT	p.A46A	KIDINS220_ENST00000418530.1_Silent_p.A4A|KIDINS220_ENST00000319688.5_Silent_p.A46A|KIDINS220_ENST00000473731.1_Silent_p.A46A|KIDINS220_ENST00000427284.1_Silent_p.A46A	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	46					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGCCTTGTTCGGCAGCTATCA	0.328																																																0								G		0,3700		0,0,1850	103.0	102.0	103.0		138	-5.2	0.3	2		103	1,8195		0,1,4097	no	coding-synonymous	KIDINS220	NM_020738.2		0,1,5947	AA,AG,GG		0.0122,0.0,0.0084		46/1772	8958894	1,11895	1850	4098	5948	SO:0001819	synonymous_variant	57498			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.138C>T	2.37:g.8958894G>A			A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	ENST00000256707.3	37	CCDS42650.1																																																																																				0.328	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		21	80	21	80
USP37	57695	hgsc.bcm.edu;broad.mit.edu	37	2	219418446	219418446	+	Splice_Site	SNP	A	A	G			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr2:219418446A>G	ENST00000258399.3	-	5	570	c.158T>C	c.(157-159)cTa>cCa	p.L53P	USP37_ENST00000454775.1_Splice_Site_p.L53P|USP37_ENST00000338465.5_Splice_Site_p.L53P|USP37_ENST00000418019.1_Splice_Site_p.L53P|USP37_ENST00000415516.1_5'UTR	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	53					G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		GTTATGACTTAGCTAATCAAG	0.318																																																0													62.0	61.0	61.0					2																	219418446		2203	4300	6503	SO:0001630	splice_region_variant	57695			AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.157-1T>C	2.37:g.219418446A>G			A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Splice_Site	SNP	ENST00000258399.3	37	CCDS2418.1	.	.	.	.	.	.	.	.	.	.	A	18.99	3.739943	0.69304	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000418019;ENST00000338465	T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.85	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000002	D	0.85309	0.5667	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.87160	0.2214	10	0.87932	D	0	-6.0555	13.8973	0.63781	1.0:0.0:0.0:0.0	.	53;53	Q86W68;Q86T82	.;UBP37_HUMAN	P	53	ENSP00000258399:L53P;ENSP00000393662:L53P;ENSP00000396585:L53P;ENSP00000345043:L53P	ENSP00000258399:L53P	L	-	2	0	USP37	219126690	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	5.914000	0.69964	2.023000	0.59567	0.533000	0.62120	CTA		0.318	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935	Missense_Mutation	3	50	3	50
CCDC66	285331	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	56627603	56627603	+	Missense_Mutation	SNP	A	A	G	rs553667522	byFrequency	TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr3:56627603A>G	ENST00000394672.3	+	9	1223	c.1153A>G	c.(1153-1155)Aca>Gca	p.T385A	CCDC66_ENST00000436465.2_Missense_Mutation_p.T385A|CCDC66_ENST00000326595.7_Missense_Mutation_p.T351A	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	385					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		CTCTCAGTCAACACACAAACA	0.453													A|||	2	0.000399361	0.0	0.0	5008	,	,		18601	0.0		0.0	False		,,,				2504	0.002															0													105.0	93.0	97.0					3																	56627603		2203	4300	6503	SO:0001583	missense	285331			AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.1153A>G	3.37:g.56627603A>G	ENSP00000378167:p.Thr385Ala		B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	ENST00000394672.3	37	CCDS46852.1	.	.	.	.	.	.	.	.	.	.	A	5.383	0.255918	0.10185	.	.	ENSG00000180376	ENST00000422222;ENST00000394672;ENST00000326595;ENST00000436465	T;T;T;T	0.24151	1.88;1.87;1.87;1.87	5.91	-0.452	0.12205	.	0.749500	0.12738	N	0.443249	T	0.19406	0.0466	L	0.43152	1.355	0.09310	N	0.999996	B	0.14438	0.01	B	0.13407	0.009	T	0.26430	-1.0103	10	0.26408	T	0.33	-0.4031	9.4668	0.38817	0.665:0.0:0.335:0.0	.	385	A2RUB6	CCD66_HUMAN	A	341;385;351;385	ENSP00000401451:T341A;ENSP00000378167:T385A;ENSP00000326050:T351A;ENSP00000404320:T385A	ENSP00000326050:T351A	T	+	1	0	CCDC66	56602643	0.016000	0.18221	0.000000	0.03702	0.166000	0.22503	0.389000	0.20751	-0.284000	0.09102	0.533000	0.62120	ACA		0.453	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506		10	53	10	53
MYLK	4638	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	123444812	123444812	+	Missense_Mutation	SNP	G	G	A	rs552998417	byFrequency	TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr3:123444812G>A	ENST00000475616.1	-	9	1629	c.1630C>T	c.(1630-1632)Cgg>Tgg	p.R544W	MYLK_ENST00000359169.1_Missense_Mutation_p.R544W|MYLK_ENST00000360304.3_Missense_Mutation_p.R544W|MYLK_ENST00000346322.5_Missense_Mutation_p.R475W|MYLK_ENST00000360772.3_Missense_Mutation_p.R544W			Q15746	MYLK_HUMAN	myosin light chain kinase	544	Ig-like C2-type 4.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CAAGTGATCCGGGGCACTGGG	0.617													G|||	2	0.000399361	0.0	0.0	5008	,	,		18135	0.0		0.0	False		,,,				2504	0.002															0													45.0	48.0	47.0					3																	123444812		2203	4300	6503	SO:0001583	missense	4638			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.1630C>T	3.37:g.123444812G>A	ENSP00000418335:p.Arg544Trp		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.015871	0.35606	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3	4.81	3.85	0.44370	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66147	0.2760	M	0.66297	2.02	0.18873	N	0.999987	D;P;D;P;D	0.54601	0.959;0.835;0.959;0.835;0.967	B;B;P;B;P	0.46275	0.376;0.326;0.502;0.347;0.51	T	0.61907	-0.6966	9	0.72032	D	0.01	.	7.5948	0.28041	0.1:0.173:0.727:0.0	.	544;475;544;475;544	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	W	544;544;544;475;544	ENSP00000354004:R544W;ENSP00000353452:R544W;ENSP00000352088:R544W;ENSP00000320622:R475W;ENSP00000418335:R544W	ENSP00000320622:R475W	R	-	1	2	MYLK	124927502	0.266000	0.24112	0.753000	0.31225	0.141000	0.21300	1.549000	0.36212	2.506000	0.84524	0.655000	0.94253	CGG		0.617	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		12	22	12	22
UMPS	7372	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	124449455	124449455	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr3:124449455G>T	ENST00000232607.2	+	1	243	c.137G>T	c.(136-138)cGa>cTa	p.R46L	MIR544B_ENST00000582372.1_RNA|UMPS_ENST00000536109.1_5'UTR|UMPS_ENST00000413078.2_5'UTR|UMPS_ENST00000538242.1_5'UTR	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	46	OPRTase.				'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|cellular response to drug (GO:0035690)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|small molecule metabolic process (GO:0044281)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	orotate phosphoribosyltransferase activity (GO:0004588)|orotidine-5'-phosphate decarboxylase activity (GO:0004590)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)	Fluorouracil(DB00544)	ATCGTGTCTCGACCGCGTCTT	0.587																																																0													70.0	61.0	64.0					3																	124449455		2203	4300	6503	SO:0001583	missense	7372				CCDS3029.1	3q13	2008-02-04	2008-02-04		ENSG00000114491	ENSG00000114491	2.4.2.10, 4.1.1.23		12563	protein-coding gene	gene with protein product	"""orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"""	613891				2767686	Standard	NM_000373		Approved		uc003ehl.4	P11172	OTTHUMG00000159431	ENST00000232607.2:c.137G>T	3.37:g.124449455G>T	ENSP00000232607:p.Arg46Leu		B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49	Missense_Mutation	SNP	ENST00000232607.2	37	CCDS3029.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.219987	0.39201	.	.	ENSG00000114491	ENST00000232607	D	0.99311	-5.73	5.15	2.36	0.29203	Phosphoribosyltransferase (1);	0.298098	0.32578	N	0.005912	D	0.96513	0.8862	L	0.34521	1.04	0.49483	D	0.999795	B	0.06786	0.001	B	0.16722	0.016	D	0.91748	0.5410	10	0.33141	T	0.24	-2.6644	4.655	0.12613	0.2963:0.0:0.5555:0.1482	.	46	P11172	UMPS_HUMAN	L	46	ENSP00000232607:R46L	ENSP00000232607:R46L	R	+	2	0	UMPS	125932145	0.971000	0.33674	0.993000	0.49108	0.997000	0.91878	3.505000	0.53356	0.315000	0.23110	0.563000	0.77884	CGA		0.587	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355271.1	NM_000373		12	36	12	36
ZNF630	57232	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	47920207	47920207	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chrX:47920207C>A	ENST00000409324.3	-	3	359	c.133G>T	c.(133-135)Gtc>Ttc	p.V45F	ZNF630_ENST00000276054.4_5'UTR|ZNF630_ENST00000442455.3_Missense_Mutation_p.V31F|ZNF630-AS1_ENST00000436124.1_RNA	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	45	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						CCCACGGAGACCAGGTGATTA	0.483																																																0													71.0	54.0	60.0					X																	47920207		1557	3570	5127	SO:0001583	missense	57232			AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"""Zinc fingers, C2H2-type"", ""-"""	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.133G>T	X.37:g.47920207C>A	ENSP00000386393:p.Val45Phe		F8WAG4|Q5H8Z5	Missense_Mutation	SNP	ENST00000409324.3	37	CCDS35237.2	.	.	.	.	.	.	.	.	.	.	.	5.944	0.358217	0.11239	.	.	ENSG00000221994	ENST00000442455;ENST00000409324;ENST00000428686	T;T;T	0.02301	4.35;4.35;4.35	2.31	2.31	0.28768	Krueppel-associated box (4);	.	.	.	.	T	0.09335	0.0230	M	0.80746	2.51	0.19300	N	0.999977	D	0.60575	0.988	P	0.62491	0.903	T	0.09037	-1.0693	9	0.72032	D	0.01	.	6.6487	0.22949	0.0:0.7047:0.2953:0.0	.	45	Q2M218	ZN630_HUMAN	F	31;45;45	ENSP00000393163:V31F;ENSP00000386393:V45F;ENSP00000407278:V45F	ENSP00000386393:V45F	V	-	1	0	ZNF630	47805151	0.000000	0.05858	0.090000	0.20809	0.059000	0.15707	0.039000	0.13884	1.202000	0.43218	0.468000	0.43344	GTC		0.483	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327254.1	NM_001037735		7	4	7	4
GSPT2	23708	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	51488255	51488255	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chrX:51488255T>A	ENST00000340438.4	+	1	1775	c.1533T>A	c.(1531-1533)gaT>gaA	p.D511E		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	511					cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					TACTTTGTGATCCTAGTAACC	0.418																																																0													123.0	103.0	110.0					X																	51488255		2203	4300	6503	SO:0001583	missense	23708			AI285711	CCDS14336.1	Xp11.22	2008-05-14			ENSG00000189369	ENSG00000189369			4622	protein-coding gene	gene with protein product		300418				10575220	Standard	NM_018094		Approved	eRF3b, FLJ10441	uc004dpl.3	Q8IYD1	OTTHUMG00000021538	ENST00000340438.4:c.1533T>A	X.37:g.51488255T>A	ENSP00000341247:p.Asp511Glu		Q9H909|Q9NVY0|Q9NY44	Missense_Mutation	SNP	ENST00000340438.4	37	CCDS14336.1	.	.	.	.	.	.	.	.	.	.	T	9.977	1.227121	0.22542	.	.	ENSG00000189369	ENST00000340438;ENST00000502175	T	0.32753	1.44	4.74	-4.2	0.03823	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.212008	0.47852	N	0.000220	T	0.23451	0.0567	M	0.67625	2.065	0.32851	D	0.506601	B	0.02656	0.0	B	0.04013	0.001	T	0.02333	-1.1175	10	0.62326	D	0.03	-11.8823	4.7791	0.13194	0.2342:0.3219:0.0:0.444	.	511	Q8IYD1	ERF3B_HUMAN	E	511;428	ENSP00000341247:D511E	ENSP00000341247:D511E	D	+	3	2	GSPT2	51504995	0.000000	0.05858	0.266000	0.24541	0.972000	0.66771	-0.322000	0.08007	-1.122000	0.02945	-1.043000	0.02367	GAT		0.418	GSPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056587.1			24	25	24	25
ATRX	546	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	76813115	76813115	+	Splice_Site	SNP	C	C	T			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chrX:76813115C>T	ENST00000373344.5	-	30	6720	c.6506G>A	c.(6505-6507)gGa>gAa	p.G2169E	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Splice_Site_p.G2131E	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2169	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTCCATGGTTCCCTTTGTAAA	0.328			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											99.0	88.0	92.0					X																	76813115		2203	4296	6499	SO:0001630	splice_region_variant	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6505-1G>A	X.37:g.76813115C>T			D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Splice_Site	SNP	ENST00000373344.5	37	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.563416	0.65651	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.93133	-3.17;-3.17	5.57	5.57	0.84162	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96858	0.8974	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97297	0.9928	10	0.72032	D	0.01	-13.8181	18.5479	0.91054	0.0:1.0:0.0:0.0	.	2131;2169	P46100-4;P46100	.;ATRX_HUMAN	E	2169;2131	ENSP00000362441:G2169E;ENSP00000378967:G2131E	ENSP00000362441:G2169E	G	-	2	0	ATRX	76699771	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.484000	0.81180	2.323000	0.78572	0.600000	0.82982	GGA		0.328	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	Missense_Mutation	20	27	20	27
COL22A1	169044	broad.mit.edu;ucsc.edu	37	8	139636001	139636001	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr8:139636001C>T	ENST00000303045.6	-	52	4191	c.3745G>A	c.(3745-3747)Gga>Aga	p.G1249R	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.G1229R	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1249	Collagen-like 12.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCCGGCTTTCCATCTCTGCCC	0.448										HNSCC(7;0.00092)																																						0													183.0	194.0	190.0					8																	139636001		2203	4300	6503	SO:0001583	missense	169044			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3745G>A	8.37:g.139636001C>T	ENSP00000303153:p.Gly1249Arg		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.080408	0.55753	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.99353	-5.77;-5.77	4.43	4.43	0.53597	.	0.000000	0.47852	U	0.000210	D	0.99501	0.9822	M	0.93720	3.45	0.49798	D	0.999828	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98027	1.0374	10	0.87932	D	0	.	12.8601	0.57908	0.0:1.0:0.0:0.0	.	1229;1249	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	R	1249;1229;942	ENSP00000303153:G1249R;ENSP00000387655:G1229R	ENSP00000303153:G1249R	G	-	1	0	COL22A1	139705183	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	3.567000	0.53813	2.746000	0.94184	0.591000	0.81541	GGA		0.448	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		50	270	50	270
MAP4K4	9448	broad.mit.edu;ucsc.edu	37	2	102503626	102503626	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr2:102503626A>G	ENST00000347699.4	+	27	3263	c.3263A>G	c.(3262-3264)tAt>tGt	p.Y1088C	MAP4K4_ENST00000350198.4_Missense_Mutation_p.Y1007C|MAP4K4_ENST00000302217.5_Missense_Mutation_p.Y891C|MAP4K4_ENST00000324219.4_Missense_Mutation_p.Y1169C|MAP4K4_ENST00000350878.4_Missense_Mutation_p.Y1128C|MAP4K4_ENST00000413150.2_Missense_Mutation_p.Y1003C|MAP4K4_ENST00000456652.1_Missense_Mutation_p.Y887C|MAP4K4_ENST00000425019.1_Missense_Mutation_p.Y1121C	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	1088	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.|Mediates interaction with RAP2A.				intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AAAGTGATCTATGGATCCTGT	0.423																																																0													113.0	110.0	111.0					2																	102503626		1943	4166	6109	SO:0001583	missense	9448			AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.3263A>G	2.37:g.102503626A>G	ENSP00000314363:p.Tyr1088Cys		O75172|Q9NST7	Missense_Mutation	SNP	ENST00000347699.4	37	CCDS56130.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.145324	0.77888	.	.	ENSG00000071054	ENST00000425019;ENST00000324219;ENST00000350198;ENST00000302217;ENST00000413150;ENST00000456652;ENST00000347699;ENST00000417294;ENST00000350878	T;T;T;T;T;T;T;T;T	0.04862	3.54;3.54;3.54;3.54;3.54;3.54;3.54;3.54;3.54	5.08	5.08	0.68730	Citron-like (3);	0.000000	0.64402	D	0.000001	T	0.28995	0.0720	M	0.86028	2.79	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.996;0.999;0.999;0.993;0.999;0.999;0.993;0.999;1.0	T	0.08700	-1.0709	10	0.87932	D	0	.	14.8383	0.70201	1.0:0.0:0.0:0.0	.	1084;887;891;1006;1088;1121;1007;1060;1169	B7Z3V5;E7EX83;C9J840;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948	.;.;.;.;M4K4_HUMAN;.;.;.;.	C	1121;1169;1007;891;1003;887;1088;1019;1128	ENSP00000392830:Y1121C;ENSP00000313644:Y1169C;ENSP00000281111:Y1007C;ENSP00000303600:Y891C;ENSP00000389752:Y1003C;ENSP00000387370:Y887C;ENSP00000314363:Y1088C;ENSP00000409720:Y1019C;ENSP00000343658:Y1128C	ENSP00000303600:Y891C	Y	+	2	0	MAP4K4	101870058	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	1.906000	0.55180	0.455000	0.32223	TAT		0.423	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834		3	18	3	18
MYH2	4620	broad.mit.edu;ucsc.edu	37	17	10442867	10442867	+	Missense_Mutation	SNP	G	G	A	rs527337606		TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:10442867G>A	ENST00000245503.5	-	13	1544	c.1160C>T	c.(1159-1161)gCg>gTg	p.A387V	MYH2_ENST00000532183.2_Missense_Mutation_p.A387V|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.A387V	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	387	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.A387V(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GAGGTAGGCCGCCTTGTCAGC	0.428													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17231	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	large_intestine(1)											88.0	90.0	89.0					17																	10442867		2203	4300	6503	SO:0001583	missense	4620				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.1160C>T	17.37:g.10442867G>A	ENSP00000245503:p.Ala387Val		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.459682	0.43736	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	D;D;D	0.86366	-2.11;-2.11;-2.11	5.1	5.1	0.69264	Myosin head, motor domain (2);	0.000000	0.39020	U	0.001488	D	0.85128	0.5626	L	0.28054	0.825	0.48511	D	0.999666	B;P	0.51791	0.008;0.948	B;P	0.54431	0.003;0.752	T	0.80527	-0.1343	10	0.08381	T	0.77	.	17.6807	0.88242	0.0:0.0:1.0:0.0	.	387;387	Q567P6;Q9UKX2	.;MYH2_HUMAN	V	387	ENSP00000433944:A387V;ENSP00000245503:A387V;ENSP00000380367:A387V	ENSP00000245503:A387V	A	-	2	0	MYH2	10383592	0.962000	0.33011	0.986000	0.45419	0.883000	0.51084	3.669000	0.54561	2.653000	0.90120	0.585000	0.79938	GCG		0.428	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		38	52	38	52
ACACA	31	broad.mit.edu;ucsc.edu	37	17	35580444	35580444	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:35580444C>T	ENST00000394406.2	-	28	3632	c.3442G>A	c.(3442-3444)Gca>Aca	p.A1148T	ACACA_ENST00000353139.5_Missense_Mutation_p.A1185T|ACACA_ENST00000335166.5_Missense_Mutation_p.A1070T|ACACA_ENST00000360679.3_Missense_Mutation_p.A1090T	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1148					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TCCAGAGCTGCCATCCTCACT	0.403																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)											0													200.0	179.0	186.0					17																	35580444		2203	4300	6503	SO:0001583	missense	31			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.3442G>A	17.37:g.35580444C>T	ENSP00000377928:p.Ala1148Thr		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	34	5.404969	0.96051	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38	5.71	5.71	0.89125	Acetyl-CoA carboxylase, central domain (1);	0.049621	0.85682	D	0.000000	D	0.83746	0.5321	M	0.92507	3.315	0.80722	D	1	P;P;P	0.49358	0.923;0.798;0.759	P;P;P	0.55749	0.783;0.615;0.48	D	0.86718	0.1940	10	0.59425	D	0.04	-13.555	18.0482	0.89340	0.0:1.0:0.0:0.0	.	1185;1148;1090	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	T	1185;1090;1148;1172;1070	ENSP00000344789:A1185T;ENSP00000353898:A1090T;ENSP00000377928:A1148T;ENSP00000335323:A1070T	ENSP00000335323:A1070T	A	-	1	0	ACACA	32654557	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.709000	0.92574	0.655000	0.94253	GCA		0.403	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		20	126	20	126
ITGA2B	3674	broad.mit.edu;ucsc.edu	37	17	42455842	42455842	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:42455842A>C	ENST00000262407.5	-	20	2013	c.1982T>G	c.(1981-1983)gTc>gGc	p.V661G	ITGA2B_ENST00000353281.4_Missense_Mutation_p.V661G	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	661					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	CAGCTCCAGGACATTATCTGC	0.657																																																0													25.0	27.0	26.0					17																	42455842		2203	4299	6502	SO:0001583	missense	3674				CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.1982T>G	17.37:g.42455842A>C	ENSP00000262407:p.Val661Gly		B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	ENST00000262407.5	37	CCDS32665.1	.	.	.	.	.	.	.	.	.	.	A	16.75	3.209991	0.58343	.	.	ENSG00000005961	ENST00000262407;ENST00000353281	T;T	0.45276	0.9;0.9	5.12	5.12	0.69794	Integrin alpha-2 (1);	0.000000	0.32015	N	0.006705	T	0.61640	0.2363	M	0.80028	2.48	0.80722	D	1	D;D	0.71674	0.998;0.994	D;D	0.64595	0.927;0.91	T	0.61367	-0.7077	10	0.26408	T	0.33	.	12.9241	0.58249	1.0:0.0:0.0:0.0	.	259;661	Q59FA8;P08514	.;ITA2B_HUMAN	G	661	ENSP00000262407:V661G;ENSP00000340536:V661G	ENSP00000262407:V661G	V	-	2	0	ITGA2B	39811368	0.220000	0.23631	0.942000	0.38095	0.256000	0.26092	2.434000	0.44802	2.163000	0.67991	0.533000	0.62120	GTC		0.657	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1			4	17	4	17
CAPN3	825	broad.mit.edu;ucsc.edu	37	15	42676717	42676717	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr15:42676717G>T	ENST00000397163.3	+	2	565	c.346G>T	c.(346-348)Gcc>Tcc	p.A116S	CAPN3_ENST00000357568.3_Missense_Mutation_p.A116S|CAPN3_ENST00000349748.3_Missense_Mutation_p.A116S|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Missense_Mutation_p.A29S|CAPN3_ENST00000318023.7_Missense_Mutation_p.A116S	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	116	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CATTGATGGAGCCAACAGAAC	0.433																																																0													136.0	129.0	131.0					15																	42676717		2203	4299	6502	SO:0001583	missense	825			X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.346G>T	15.37:g.42676717G>T	ENSP00000380349:p.Ala116Ser		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	37	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	G	34	5.397777	0.96009	.	.	ENSG00000092529	ENST00000356316;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023	D;D;D;D;D	0.97731	-4.51;-4.51;-4.51;-4.51;-4.51	5.5	5.5	0.81552	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	U	0.000000	D	0.98994	0.9657	M	0.90145	3.09	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.997;0.993;0.996;0.997;0.994	D;D;D;D;D;D	0.97110	1.0;0.999;0.993;0.998;0.999;0.999	D	0.99655	1.0992	10	0.87932	D	0	.	19.3925	0.94590	0.0:0.0:1.0:0.0	.	29;29;116;116;116;29	C6EVS4;C6EVS3;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;CAN3_HUMAN;.	S	29;116;116;116;116	ENSP00000348667:A29S;ENSP00000380349:A116S;ENSP00000350181:A116S;ENSP00000183936:A116S;ENSP00000326281:A116S	ENSP00000326281:A116S	A	+	1	0	CAPN3	40464009	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.797000	0.99108	2.591000	0.87537	0.650000	0.86243	GCC		0.433	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			25	95	25	95
NF1	4763	broad.mit.edu;hgsc.bcm.edu	37	17	29683983	29683984	+	Frame_Shift_Ins	INS	-	-	A	rs587781651		TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:29683983_29683984insA	ENST00000358273.4	+	53	8127_8128	c.7744_7745insA	c.(7744-7746)cagfs	p.Q2582fs	NF1_ENST00000444181.2_Frame_Shift_Ins_p.Q375fs|NF1_ENST00000417592.2_3'UTR|NF1_ENST00000356175.3_Frame_Shift_Ins_p.Q2561fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2582					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGCAGAAACTCAGAGGATTTCC	0.371			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)																																								SO:0001589	frameshift_variant	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7745dupA	17.37:g.29683984_29683984dupA	ENSP00000351015:p.Gln2582fs		O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Ins	INS	ENST00000358273.4	37	CCDS42292.1																																																																																				0.371	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		37	194	37	194
