#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
FAM186B	84070	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	49992644	49992644	+	Missense_Mutation	SNP	A	A	G	rs140386687	byFrequency	TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr12:49992644A>G	ENST00000257894.2	-	5	2419	c.2258T>C	c.(2257-2259)aTt>aCt	p.I753T	FAM186B_ENST00000551047.1_Intron|FAM186B_ENST00000544141.1_Missense_Mutation_p.I663T	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	753						protein complex (GO:0043234)				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CAGGCGGTCAATGTTTTCCAG	0.537													A|||	4	0.000798722	0.0015	0.0	5008	,	,		15990	0.001		0.001	False		,,,				2504	0.0															0								A	THR/ILE	3,4403	6.2+/-15.9	0,3,2200	118.0	104.0	109.0		2258	2.9	0.0	12	dbSNP_134	109	4,8596	3.7+/-12.6	0,4,4296	yes	missense	FAM186B	NM_032130.2	89	0,7,6496	GG,GA,AA		0.0465,0.0681,0.0538	benign	753/894	49992644	7,12999	2203	4300	6503	SO:0001583	missense	84070			AL136748	CCDS8788.1	12q13.12	2008-09-17	2008-09-17	2008-09-17	ENSG00000135436	ENSG00000135436			25296	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 25"""	C12orf25		11230166	Standard	NM_032130		Approved	DKFZP434J0113	uc001ruo.3	Q8IYM0	OTTHUMG00000167427	ENST00000257894.2:c.2258T>C	12.37:g.49992644A>G	ENSP00000257894:p.Ile753Thr		B4DZ15|Q8TCP7|Q9H0L3	Missense_Mutation	SNP	ENST00000257894.2	37	CCDS8788.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	13.56	2.274243	0.40194	6.81E-4	4.65E-4	ENSG00000135436	ENST00000544141;ENST00000532262;ENST00000257894	T;T;T	0.32272	1.46;1.46;1.46	5.26	2.9	0.33743	.	0.787362	0.10641	N	0.651031	T	0.31765	0.0807	M	0.70595	2.14	0.09310	N	1	B;B	0.19583	0.017;0.037	B;B	0.19391	0.025;0.018	T	0.29212	-1.0019	9	.	.	.	0.2576	7.1023	0.25344	0.8186:0.0:0.1814:0.0	.	663;753	B4DZ15;Q8IYM0	.;F186B_HUMAN	T	663;366;753	ENSP00000438569:I663T;ENSP00000436995:I366T;ENSP00000257894:I753T	.	I	-	2	0	FAM186B	48278911	0.002000	0.14202	0.001000	0.08648	0.025000	0.11179	1.640000	0.37186	0.411000	0.25702	-0.270000	0.10280	ATT		0.537	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394583.2	NM_032130		66	79	66	79
VRK1	7443	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	14	97321577	97321577	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr14:97321577A>G	ENST00000216639.3	+	8	742	c.593A>G	c.(592-594)tAt>tGt	p.Y198C		NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN	vaccinia related kinase 1	198	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Golgi disassembly (GO:0090166)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-T3 phosphorylation (GO:0072355)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi stack (GO:0005795)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H3-S10 specific) (GO:0035175)|histone kinase activity (H3-T3 specific) (GO:0072354)|nucleosomal histone binding (GO:0031493)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		TTGGTAGATTATGGCCTTGCT	0.393																																																0													199.0	194.0	196.0					14																	97321577		2203	4300	6503	SO:0001583	missense	7443			AB000449	CCDS9947.1	14q32.2	2012-07-05			ENSG00000100749	ENSG00000100749			12718	protein-coding gene	gene with protein product		602168				9344656	Standard	XM_006720247		Approved		uc001yft.3	Q99986	OTTHUMG00000171459	ENST00000216639.3:c.593A>G	14.37:g.97321577A>G	ENSP00000216639:p.Tyr198Cys		Q3SYL2	Missense_Mutation	SNP	ENST00000216639.3	37	CCDS9947.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.544081	0.86022	.	.	ENSG00000100749	ENST00000216639	T	0.66815	-0.23	5.95	5.95	0.96441	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.84848	0.5563	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87706	0.2563	10	0.87932	D	0	-19.3818	16.4025	0.83647	1.0:0.0:0.0:0.0	.	198	Q99986	VRK1_HUMAN	C	198	ENSP00000216639:Y198C	ENSP00000216639:Y198C	Y	+	2	0	VRK1	96391330	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	9.335000	0.96500	2.268000	0.75426	0.533000	0.62120	TAT		0.393	VRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413520.1	NM_003384		78	106	78	106
TNFAIP2	7127	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	14	103599762	103599762	+	Missense_Mutation	SNP	C	C	T	rs200141678	byFrequency	TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr14:103599762C>T	ENST00000560869.1	+	10	2248	c.1609C>T	c.(1609-1611)Cgc>Tgc	p.R537C	TNFAIP2_ENST00000451723.2_Missense_Mutation_p.R206C|TNFAIP2_ENST00000538222.1_Missense_Mutation_p.R20C|TNFAIP2_ENST00000333007.1_Missense_Mutation_p.R537C			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	537					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|exocytosis (GO:0006887)	exocyst (GO:0000145)|extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			CAGCAAGGGGCGCCTGGTCCT	0.622													C|||	3	0.000599042	0.0	0.0043	5008	,	,		21621	0.0		0.0	False		,,,				2504	0.0															0													62.0	57.0	59.0					14																	103599762		2203	4300	6503	SO:0001583	missense	7127				CCDS9979.1	14q32	2011-01-31				ENSG00000185215			11895	protein-coding gene	gene with protein product	"""exocyst complex component 3-like 3"""	603300				1374453	Standard	NM_006291		Approved	B94, EXOC3L3	uc001ymm.1	Q03169		ENST00000560869.1:c.1609C>T	14.37:g.103599762C>T	ENSP00000452634:p.Arg537Cys		Q86VI0	Missense_Mutation	SNP	ENST00000560869.1	37	CCDS9979.1	3	0.0013736263736263737	0	0.0	3	0.008287292817679558	0	0.0	0	0.0	C	12.75	2.032187	0.35893	.	.	ENSG00000185215	ENST00000333007;ENST00000451723;ENST00000538222	T;T;T	0.09538	2.97;2.97;2.97	4.54	2.63	0.31362	.	0.437581	0.21647	N	0.071244	T	0.17662	0.0424	M	0.61703	1.905	0.20764	N	0.999856	D;D	0.89917	1.0;0.999	D;P	0.63113	0.911;0.828	T	0.02639	-1.1130	10	0.87932	D	0	-7.0785	9.562	0.39376	0.4074:0.5926:0.0:0.0	.	20;537	F6RNL3;Q03169	.;TNAP2_HUMAN	C	537;206;20	ENSP00000332326:R537C;ENSP00000393256:R206C;ENSP00000446171:R20C	ENSP00000332326:R537C	R	+	1	0	TNFAIP2	102669515	0.055000	0.20627	0.236000	0.24074	0.201000	0.24016	0.280000	0.18790	0.306000	0.22856	0.491000	0.48974	CGC		0.622	TNFAIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415674.1	NM_006291		43	59	43	59
TAT	6898	hgsc.bcm.edu;broad.mit.edu	37	16	71602180	71602180	+	Missense_Mutation	SNP	T	T	C	rs565720583		TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr16:71602180T>C	ENST00000355962.4	-	12	1365	c.1232A>G	c.(1231-1233)gAg>gGg	p.E411G	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	411					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|L-phenylalanine catabolic process (GO:0006559)|response to glucocorticoid (GO:0051384)|response to mercury ion (GO:0046689)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|L-tyrosine:2-oxoglutarate aminotransferase activity (GO:0004838)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)	ATTCGGGTACTCAAAGCACTG	0.502													T|||	1	0.000199681	0.0008	0.0	5008	,	,		22145	0.0		0.0	False		,,,				2504	0.0				Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)											0													56.0	47.0	50.0					16																	71602180		2198	4300	6498	SO:0001583	missense	6898				CCDS10903.1	16q22.1	2012-10-02			ENSG00000198650	ENSG00000198650	2.6.1.5		11573	protein-coding gene	gene with protein product		613018					Standard	NM_000353		Approved		uc002fap.2	P17735	OTTHUMG00000137590	ENST00000355962.4:c.1232A>G	16.37:g.71602180T>C	ENSP00000348234:p.Glu411Gly		B2R8I1|D3DWS2	Missense_Mutation	SNP	ENST00000355962.4	37	CCDS10903.1	.	.	.	.	.	.	.	.	.	.	T	15.02	2.707791	0.48412	.	.	ENSG00000198650	ENST00000355962	D	0.85258	-1.96	6.02	6.02	0.97574	Tyrosine aminotransferase (1);Aminotransferase, class I/classII (1);Tyrosine/nicotianamine aminotransferase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.76976	0.4063	N	0.04245	-0.25	0.80722	D	1	D	0.58970	0.984	P	0.49829	0.623	T	0.78674	-0.2112	10	0.26408	T	0.33	-28.4008	16.5446	0.84426	0.0:0.0:0.0:1.0	.	411	P17735	ATTY_HUMAN	G	411	ENSP00000348234:E411G	ENSP00000348234:E411G	E	-	2	0	TAT	70159681	1.000000	0.71417	0.998000	0.56505	0.199000	0.23934	6.095000	0.71439	2.311000	0.77944	0.533000	0.62120	GAG		0.502	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268989.1			3	63	3	63
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273H	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and 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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576						67.0	58.0	61.0					17																	7577120		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.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His		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	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		30	31	30	31
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7578466	7578466	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr17:7578466G>T	ENST00000269305.4	-	5	653	c.464C>A	c.(463-465)aCc>aAc	p.T155N	TP53_ENST00000445888.2_Missense_Mutation_p.T155N|TP53_ENST00000413465.2_Missense_Mutation_p.T155N|TP53_ENST00000420246.2_Missense_Mutation_p.T155N|TP53_ENST00000455263.2_Missense_Mutation_p.T155N|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.T155N	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	155	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1868473}.|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation; does not induce SNAI1 degradation). {ECO:0000269|PubMed:14660794}.|T -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.T155N(22)|p.T155I(14)|p.0?(8)|p.?(5)|p.P152fs*14(4)|p.G154fs*14(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.P151_V173del23(1)|p.G154_R156delGTR(1)|p.T155fs*25(1)|p.R156_A161del(1)|p.D148_T155delDSTPPPGT(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T23N(1)|p.T62N(1)|p.T62I(1)|p.T23I(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*25(1)|p.T155_R156delTR(1)|p.T155S(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCGGACGCGGGTGCCGGGCGG	0.612		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	75	Substitution - Missense(41)|Deletion - Frameshift(14)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(5)|Insertion - Frameshift(1)	lung(14)|upper_aerodigestive_tract(11)|breast(8)|skin(6)|stomach(5)|oesophagus(5)|ovary(5)|central_nervous_system(4)|bone(4)|large_intestine(3)|liver(3)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|pancreas(2)|soft_tissue(1)	GRCh37	CM942117	TP53	M							50.0	52.0	51.0					17																	7578466		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.464C>A	17.37:g.7578466G>T	ENSP00000269305:p.Thr155Asn		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	11.07	1.529735	0.27387	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99778	-6.73;-6.73;-6.73;-6.73;-6.73;-6.73;-6.73;-6.73;-6.73	5.47	-0.466	0.12153	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.718085	0.14119	N	0.340173	D	0.99654	0.9872	M	0.76328	2.33	0.09310	N	1	D;P;B;P;B;P;P	0.56746	0.977;0.579;0.032;0.85;0.326;0.786;0.949	P;P;B;P;P;P;P	0.61201	0.885;0.6;0.098;0.676;0.721;0.782;0.707	D	0.99285	1.0897	10	0.87932	D	0	-6.4954	20.1723	0.98160	0.0:0.5036:0.4964:0.0	.	116;155;155;62;155;155;155	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	N	155;155;155;155;155;155;144;62;23;62;23;155	ENSP00000410739:T155N;ENSP00000352610:T155N;ENSP00000269305:T155N;ENSP00000398846:T155N;ENSP00000391127:T155N;ENSP00000391478:T155N;ENSP00000425104:T23N;ENSP00000423862:T62N;ENSP00000424104:T155N	ENSP00000269305:T155N	T	-	2	0	TP53	7519191	0.057000	0.20700	0.000000	0.03702	0.011000	0.07611	0.842000	0.27627	-0.440000	0.07211	-2.650000	0.00149	ACC		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		49	47	49	47
DSG4	147409	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	18	28983444	28983444	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr18:28983444C>T	ENST00000308128.4	+	11	1618	c.1483C>T	c.(1483-1485)Cca>Tca	p.P495S	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.P495S	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	495	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TGATTATTGTCCAAACATTTT	0.383																																																0													119.0	108.0	112.0					18																	28983444		2203	4300	6503	SO:0001583	missense	147409			AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.1483C>T	18.37:g.28983444C>T	ENSP00000311859:p.Pro495Ser		A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490960	0.64074	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.79749	-1.3;-1.3	5.71	5.71	0.89125	Cadherin (4);Cadherin-like (2);	0.000000	0.34435	N	0.003966	D	0.94062	0.8097	H	0.98089	4.145	0.52501	D	0.99995	D;D	0.89917	0.96;1.0	P;D	0.74674	0.692;0.984	D	0.95589	0.8653	10	0.87932	D	0	.	19.8278	0.96624	0.0:1.0:0.0:0.0	.	495;495	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	S	495	ENSP00000311859:P495S;ENSP00000352785:P495S	ENSP00000311859:P495S	P	+	1	0	DSG4	27237442	1.000000	0.71417	0.995000	0.50966	0.319000	0.28217	5.603000	0.67619	2.850000	0.98022	0.655000	0.94253	CCA		0.383	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		28	34	28	34
NUMBL	9253	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	41183289	41183289	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr19:41183289G>C	ENST00000252891.4	-	7	745	c.578C>G	c.(577-579)gCc>gGc	p.A193G	NUMBL_ENST00000598779.1_Missense_Mutation_p.A152G|NUMBL_ENST00000540131.1_Missense_Mutation_p.A152G	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	193	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			CAGGCAGGCGGCAAAAGCACA	0.697																																																0													28.0	27.0	27.0					19																	41183289		2203	4299	6502	SO:0001583	missense	9253			AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"""numb (Drosophila) homolog-like"""			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.578C>G	19.37:g.41183289G>C	ENSP00000252891:p.Ala193Gly		Q7Z4J9	Missense_Mutation	SNP	ENST00000252891.4	37	CCDS12561.1	.	.	.	.	.	.	.	.	.	.	G	32	5.177182	0.94846	.	.	ENSG00000105245	ENST00000252891;ENST00000540131	T;T	0.21191	2.02;2.02	5.46	5.46	0.80206	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.50905	0.1643	M	0.85630	2.765	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.64144	0.922;0.922	T	0.57705	-0.7765	10	0.87932	D	0	-15.2267	18.0617	0.89379	0.0:0.0:1.0:0.0	.	193;193	A8K033;Q9Y6R0	.;NUMBL_HUMAN	G	193;152	ENSP00000252891:A193G;ENSP00000442759:A152G	ENSP00000252891:A193G	A	-	2	0	NUMBL	45875129	1.000000	0.71417	0.111000	0.21465	0.993000	0.82548	9.781000	0.99029	2.556000	0.86216	0.655000	0.94253	GCC		0.697	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2	NM_004756		18	27	18	27
ITPKC	80271	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	41223412	41223412	+	Silent	SNP	A	A	C			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr19:41223412A>C	ENST00000263370.2	+	1	405	c.372A>C	c.(370-372)ctA>ctC	p.L124L	ADCK4_ENST00000324464.3_5'Flank|ADCK4_ENST00000243583.6_5'Flank|ADCK4_ENST00000450541.1_5'Flank	NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	124					inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GGACGCATCTAGAATGGAGCT	0.607																																																0													61.0	71.0	67.0					19																	41223412		2203	4300	6503	SO:0001819	synonymous_variant	80271			Y11999	CCDS12563.1	19q13.1	2011-04-28	2011-04-28		ENSG00000086544	ENSG00000086544	2.7.1.127		14897	protein-coding gene	gene with protein product		606476	"""inositol 1,4,5-trisphosphate 3-kinase C"""			11085927	Standard	NM_025194		Approved	IP3KC, IP3-3KC	uc002oot.3	Q96DU7		ENST00000263370.2:c.372A>C	19.37:g.41223412A>C			Q9UE25|Q9Y475	Silent	SNP	ENST00000263370.2	37	CCDS12563.1																																																																																				0.607	ITPKC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463104.1	NM_025194		42	80	42	80
LILRA2	11027	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	55086405	55086405	+	Missense_Mutation	SNP	C	C	T	rs74454618	byFrequency	TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr19:55086405C>T	ENST00000251377.3	+	5	693	c.560C>T	c.(559-561)cCg>cTg	p.P187L	LILRA2_ENST00000251376.3_Missense_Mutation_p.P187L|LILRA2_ENST00000391737.1_Missense_Mutation_p.P175L|LILRA2_ENST00000391738.3_Missense_Mutation_p.P187L|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	187	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCCGTGAGCCCGAGTCGCAGG	0.587													c|||	3	0.000599042	0.0	0.0	5008	,	,		19106	0.003		0.0	False		,,,				2504	0.0															0													155.0	150.0	152.0					19																	55086405		2203	4300	6503	SO:0001583	missense	11027			U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.560C>T	19.37:g.55086405C>T	ENSP00000251377:p.Pro187Leu		O75020	Missense_Mutation	SNP	ENST00000251377.3	37	CCDS46179.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	11.81	1.751144	0.31046	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.03094	4.05;4.05;4.05;4.05;4.05	2.93	1.87	0.25490	Immunoglobulin-like fold (1);	0.692657	0.13156	N	0.409475	T	0.03263	0.0095	M	0.69358	2.11	0.09310	N	1	B;P;P;P	0.46578	0.295;0.712;0.835;0.88	B;B;B;B	0.40009	0.057;0.316;0.316;0.286	T	0.35798	-0.9774	9	.	.	.	.	5.2131	0.15329	0.0:0.8229:0.0:0.1771	.	187;175;187;187	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	L	187;187;187;187;175	ENSP00000388131:P187L;ENSP00000251377:P187L;ENSP00000375618:P187L;ENSP00000251376:P187L;ENSP00000375617:P175L	.	P	+	2	0	LILRA2	59778217	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.158000	0.16422	0.535000	0.28714	0.508000	0.49915	CCG		0.587	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			99	109	99	109
MYOM3	127294	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	24419503	24419503	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr1:24419503G>A	ENST00000374434.3	-	10	1186	c.1024C>T	c.(1024-1026)Ctc>Ttc	p.L342F	MYOM3_ENST00000329601.7_Missense_Mutation_p.L342F|MYOM3_ENST00000330966.7_Missense_Mutation_p.L343F|MYOM3_ENST00000475306.1_5'UTR	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	342	Ig-like C2-type 2.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		ACCATGTAGAGCCCCTCGTCC	0.637																																																0													36.0	41.0	39.0					1																	24419503		1970	4145	6115	SO:0001583	missense	127294			AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.1024C>T	1.37:g.24419503G>A	ENSP00000363557:p.Leu342Phe		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.686329	0.47991	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.67345	-0.26;-0.26;-0.26	5.36	1.89	0.25635	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.407307	0.27185	N	0.020535	T	0.50034	0.1592	N	0.24115	0.695	0.24564	N	0.993958	B;B	0.23854	0.092;0.004	B;B	0.33254	0.16;0.021	T	0.40553	-0.9557	10	0.35671	T	0.21	.	6.5068	0.22200	0.4528:0.0:0.5472:0.0	.	342;342	Q5VTT5-2;Q5VTT5	.;MYOM3_HUMAN	F	342;343;342	ENSP00000363557:L342F;ENSP00000332670:L343F;ENSP00000328415:L342F	ENSP00000328415:L342F	L	-	1	0	MYOM3	24292090	0.978000	0.34361	0.991000	0.47740	0.938000	0.57974	1.878000	0.39608	0.392000	0.25172	0.650000	0.86243	CTC		0.637	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		19	20	19	20
ZCCHC11	23318	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	52889613	52889613	+	Silent	SNP	C	C	T			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr1:52889613C>T	ENST00000371544.3	-	30	5191	c.4929G>A	c.(4927-4929)tcG>tcA	p.S1643S	ZCCHC11_ENST00000257177.4_Silent_p.S1644S	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1643					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CGCATTACTCCGACACGTTTC	0.507																																																0													161.0	111.0	128.0					1																	52889613		2203	4300	6503	SO:0001819	synonymous_variant	23318			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.4929G>A	1.37:g.52889613C>T			A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Silent	SNP	ENST00000371544.3	37	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	C	8.270	0.813224	0.16537	.	.	ENSG00000134744	ENST00000494469	.	.	.	5.26	4.34	0.51931	.	.	.	.	.	T	0.70587	0.3241	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70626	-0.4820	4	.	.	.	.	15.3524	0.74399	0.0:0.8605:0.1395:0.0	.	.	.	.	Q	150	.	.	R	-	2	0	ZCCHC11	52662201	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.630000	0.37081	1.421000	0.47157	0.585000	0.79938	CGG		0.507	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		16	19	16	19
FCRL3	115352	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	157665373	157665373	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr1:157665373G>T	ENST00000368184.3	-	8	1448	c.1157C>A	c.(1156-1158)aCc>aAc	p.T386N	RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.T386N	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	386	Ig-like C2-type 5.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					AGCCCTGAAGGTGAGGACAGG	0.557																																																0													39.0	40.0	40.0					1																	157665373		2203	4300	6503	SO:0001583	missense	115352			AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1157C>A	1.37:g.157665373G>T	ENSP00000357167:p.Thr386Asn		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	37	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.384403	0.42308	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.03242	4.0;4.0	5.56	5.56	0.83823	Immunoglobulin-like (1);	0.133902	0.34046	N	0.004314	T	0.14013	0.0339	M	0.94021	3.485	0.26358	N	0.977094	D;P;D	0.65815	0.995;0.575;0.994	P;P;P	0.61940	0.893;0.896;0.828	T	0.19418	-1.0306	10	0.44086	T	0.13	.	15.0352	0.71741	0.0:0.0:1.0:0.0	.	386;291;386	Q96P31;D3DVD1;Q96P31-6	FCRL3_HUMAN;.;.	N	386	ENSP00000357169:T386N;ENSP00000357167:T386N	ENSP00000292392:T386N	T	-	2	0	FCRL3	155931997	0.999000	0.42202	0.621000	0.29145	0.017000	0.09413	4.431000	0.59915	2.611000	0.88343	0.655000	0.94253	ACC		0.557	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		24	47	24	47
FMO1	2326	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	171254528	171254528	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr1:171254528G>A	ENST00000354841.4	+	8	1575	c.1444G>A	c.(1444-1446)Gaa>Aaa	p.E482K	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Missense_Mutation_p.E482K|FMO1_ENST00000402921.2_Missense_Mutation_p.E419K	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	482					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	AGGAAAATGGGAAGGAGCCAG	0.502																																																0													103.0	94.0	97.0					1																	171254528		2203	4300	6503	SO:0001583	missense	2326			M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.1444G>A	1.37:g.171254528G>A	ENSP00000346901:p.Glu482Lys		A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Missense_Mutation	SNP	ENST00000354841.4	37	CCDS1294.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.265550	0.23136	.	.	ENSG00000010932	ENST00000367750;ENST00000402921;ENST00000354841	T;T;T	0.58652	0.32;0.32;0.32	5.61	0.308	0.15815	.	1.005720	0.07993	N	0.987416	T	0.14356	0.0347	N	0.16656	0.425	0.34297	D	0.683881	B;B	0.15930	0.015;0.004	B;B	0.18561	0.022;0.015	T	0.16158	-1.0412	10	0.08837	T	0.75	-17.9437	5.437	0.16486	0.3677:0.2397:0.3926:0.0	.	419;482	B7Z3P4;Q01740	.;FMO1_HUMAN	K	482;419;482	ENSP00000356724:E482K;ENSP00000385543:E419K;ENSP00000346901:E482K	ENSP00000346901:E482K	E	+	1	0	FMO1	169521152	0.001000	0.12720	0.817000	0.32601	0.995000	0.86356	-0.074000	0.11450	-0.198000	0.10333	0.557000	0.71058	GAA		0.502	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021		41	69	41	69
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	2835	Substitution - Missense(2834)|Complex - compound substitution(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)											79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			40	66	40	66
IL17RC	84818	hgsc.bcm.edu;broad.mit.edu	37	3	9959040	9959040	+	Missense_Mutation	SNP	G	G	A	rs112532783		TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr3:9959040G>A	ENST00000295981.3	+	1	259	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	IL17RC_ENST00000455057.1_Missense_Mutation_p.R14Q|IL17RC_ENST00000498214.1_3'UTR|RNU6-882P_ENST00000391025.1_RNA|IL17RC_ENST00000383812.4_Missense_Mutation_p.R14Q|IL17RC_ENST00000416074.2_5'UTR|IL17RC_ENST00000413608.1_Missense_Mutation_p.R14Q|IL17RC_ENST00000403601.3_Missense_Mutation_p.R14Q	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	14					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GCACTGGGCCGAAGCCCAGTG	0.657													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16670	0.0		0.0	False		,,,				2504	0.0															0								G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	37.0	38.0	38.0		41,41,41,41,41,41	4.4	0.9	3	dbSNP_132	38	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense	IL17RC	NM_001203263.1,NM_001203264.1,NM_001203265.1,NM_032732.5,NM_153460.3,NM_153461.3	43,43,43,43,43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	14/708,14/691,14/689,14/706,14/721,14/792	9959040	1,13005	2203	4300	6503	SO:0001583	missense	84818			BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"""Interleukins and interleukin receptors"""	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.41G>A	3.37:g.9959040G>A	ENSP00000295981:p.Arg14Gln		E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Missense_Mutation	SNP	ENST00000295981.3	37	CCDS2590.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.968023	0.34754	2.27E-4	0.0	ENSG00000163702	ENST00000383812;ENST00000438091;ENST00000295981;ENST00000436503;ENST00000403601;ENST00000455057;ENST00000413608	T;T;T;T;T;T	0.46451	1.87;0.88;1.81;1.85;0.87;1.86	5.33	4.44	0.53790	.	0.281924	0.25622	N	0.029407	T	0.48519	0.1504	L	0.42245	1.32	0.50313	D	0.999863	D;D;D;D;D;D;D;D	0.76494	0.998;0.996;0.996;0.998;0.998;0.998;0.996;0.999	P;P;P;P;P;P;P;P	0.55667	0.707;0.512;0.512;0.608;0.608;0.707;0.512;0.781	T	0.50659	-0.8802	10	0.87932	D	0	-4.8722	11.9896	0.53168	0.0:0.1745:0.8255:0.0	.	14;14;14;14;14;14;14;14	Q8NAC3-4;E9PHG1;A8BWD5;E9PHJ6;A8BWC9;Q8NAC3-3;Q8NAC3;Q8NAC3-2	.;.;.;.;.;.;I17RC_HUMAN;.	Q	14	ENSP00000373323:R14Q;ENSP00000414609:R14Q;ENSP00000295981:R14Q;ENSP00000384969:R14Q;ENSP00000407894:R14Q;ENSP00000396064:R14Q	ENSP00000295981:R14Q	R	+	2	0	IL17RC	9934040	1.000000	0.71417	0.869000	0.34112	0.344000	0.29017	1.472000	0.35376	1.225000	0.43566	0.561000	0.74099	CGA		0.657	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2	NM_032732		6	91	6	91
HMGN3	9324	hgsc.bcm.edu;ucsc.edu	37	6	79944270	79944270	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr6:79944270T>G	ENST00000344726.5	-	1	136	c.8A>C	c.(7-9)aAg>aCg	p.K3T	HMGN3-AS1_ENST00000604516.1_RNA|HMGN3_ENST00000275036.7_Missense_Mutation_p.K3T	NM_001201362.1|NM_001201363.1|NM_004242.3	NP_001188291.1|NP_001188292.1|NP_004233.1	Q15651	HMGN3_HUMAN	high mobility group nucleosomal binding domain 3	3					chromatin modification (GO:0016568)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|thyroid hormone receptor binding (GO:0046966)			central_nervous_system(1)|kidney(2)|lung(1)	4		all_cancers(76;0.000116)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0393)		BRCA - Breast invasive adenocarcinoma(397;0.125)		TACCTTTCTCTTCGGCATAAT	0.502																																																0													130.0	130.0	130.0					6																	79944270		2203	4300	6503	SO:0001583	missense	9324			L40357	CCDS4988.1, CCDS4989.1, CCDS75485.1	6q14.3	2011-07-01	2002-07-25	2002-07-26	ENSG00000118418	ENSG00000118418		"""High-mobility group / Canonical"""	12312	protein-coding gene	gene with protein product		604502	"""thyroid hormone receptor interactor 7"""	TRIP7		7776974, 11356838	Standard	NM_004242		Approved		uc021zbz.1	Q15651	OTTHUMG00000015073	ENST00000344726.5:c.8A>C	6.37:g.79944270T>G	ENSP00000341267:p.Lys3Thr		B2RD37|Q5HYD3|Q7RTT0|Q969M5|Q9BZT7	Missense_Mutation	SNP	ENST00000344726.5	37	CCDS4988.1	.	.	.	.	.	.	.	.	.	.	T	13.44	2.238192	0.39598	.	.	ENSG00000118418	ENST00000344726;ENST00000275036	.	.	.	4.94	4.94	0.65067	.	0.422215	0.26492	N	0.024073	T	0.28466	0.0704	.	.	.	0.41022	D	0.985088	B;P	0.40476	0.157;0.718	B;B	0.38616	0.165;0.277	T	0.10200	-1.0640	7	.	.	.	.	11.1602	0.48512	0.0:0.0:0.0:1.0	.	3;3	Q15651;Q15651-2	HMGN3_HUMAN;.	T	3	.	.	K	-	2	0	HMGN3	80000989	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.879000	0.56138	2.203000	0.70933	0.459000	0.35465	AAG		0.502	HMGN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041300.1	NM_004242		17	178	17	178
LINGO2	158038	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	27950110	27950110	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr9:27950110C>T	ENST00000379992.2	-	6	1009	c.560G>A	c.(559-561)tGc>tAc	p.C187Y	LINGO2_ENST00000308675.3_Missense_Mutation_p.C187Y	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	187						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TGTTAAGTTGCATTTCTCCAG	0.483																																																0													63.0	63.0	63.0					9																	27950110		2203	4300	6503	SO:0001583	missense	158038			AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.560G>A	9.37:g.27950110C>T	ENSP00000369328:p.Cys187Tyr		A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.332932	0.60853	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.80214	-1.35;-1.35	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.86197	0.5875	M	0.84433	2.695	0.80722	D	1	D	0.57257	0.979	P	0.45881	0.496	D	0.86612	0.1873	9	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	187	Q7L985	LIGO2_HUMAN	Y	187	ENSP00000369328:C187Y;ENSP00000310126:C187Y	.	C	-	2	0	LINGO2	27940110	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	TGC		0.483	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		45	65	45	65
MYO10	4651	broad.mit.edu;ucsc.edu	37	5	16694555	16694555	+	Missense_Mutation	SNP	C	C	T	rs368834881		TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr5:16694555C>T	ENST00000513610.1	-	27	4179	c.3725G>A	c.(3724-3726)cGc>cAc	p.R1242H	MYO10_ENST00000515803.1_Missense_Mutation_p.R581H|MYO10_ENST00000274203.9_Missense_Mutation_p.R599H|MYO10_ENST00000427430.2_Missense_Mutation_p.R599H|MYO10_ENST00000505695.1_Missense_Mutation_p.R581H	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1242	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CTTGGACTGGCGGAGGACAAA	0.567																																																0								C	HIS/ARG	0,3956		0,0,1978	117.0	118.0	117.0		3725	5.5	1.0	5		117	1,8319		0,1,4159	no	missense	MYO10	NM_012334.2	29	0,1,6137	TT,TC,CC		0.012,0.0,0.0081	probably-damaging	1242/2059	16694555	1,12275	1978	4160	6138	SO:0001583	missense	4651			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.3725G>A	5.37:g.16694555C>T	ENSP00000421280:p.Arg1242His		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	C	35	5.538128	0.96460	0.0	1.2E-4	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03	5.48	5.48	0.80851	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.	.	.	.	D	0.88474	0.6446	M	0.75150	2.29	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.956;0.996;1.0	D	0.89308	0.3631	9	0.87932	D	0	.	19.3713	0.94488	0.0:1.0:0.0:0.0	.	121;883;1242	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	H	1242;581;599;581;599	ENSP00000421280:R1242H;ENSP00000425051:R581H;ENSP00000274203:R599H;ENSP00000421170:R581H;ENSP00000391106:R599H	ENSP00000274203:R599H	R	-	2	0	MYO10	16747555	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.818000	0.86416	2.575000	0.86900	0.655000	0.94253	CGC		0.567	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		24	179	24	179
LACC1	144811	broad.mit.edu;hgsc.bcm.edu	37	13	44455647	44455647	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr13:44455647delG	ENST00000441843.1	+	2	1011	c.526delG	c.(526-528)ggafs	p.G176fs	CCDC122_ENST00000444614.3_5'Flank|LACC1_ENST00000325686.6_Frame_Shift_Del_p.G176fs|CCDC122_ENST00000476570.2_5'Flank	NM_001128303.1	NP_001121775.1	Q8IV20	LACC1_HUMAN	laccase (multicopper oxidoreductase) domain containing 1	176																	AGCACTGAGAGGAAAATTAAC	0.328																																																0													62.0	67.0	65.0					13																	44455647		2182	4295	6477	SO:0001589	frameshift_variant	144811			AK096044	CCDS9391.1	13q14.11	2012-05-11	2011-08-09	2011-08-09	ENSG00000179630	ENSG00000179630			26789	protein-coding gene	gene with protein product		613409	"""chromosome 13 open reading frame 31"""	C13orf31		16740638, 22504414	Standard	NM_153218		Approved	FLJ38725	uc010acg.3	Q8IV20	OTTHUMG00000016826	ENST00000441843.1:c.526delG	13.37:g.44455647delG	ENSP00000391747:p.Gly176fs		A2A3Z6|Q8N8X5	Frame_Shift_Del	DEL	ENST00000441843.1	37	CCDS9391.1																																																																																				0.328	LACC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044726.3	NM_153218		51	97	51	97
ATRX	546	broad.mit.edu;hgsc.bcm.edu	37	X	76938749	76938765	+	Frame_Shift_Del	DEL	GTCGCCTCAAGGGTGTA	GTCGCCTCAAGGGTGTA	-			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chrX:76938749_76938765delGTCGCCTCAAGGGTGTA	ENST00000373344.5	-	9	2197_2213	c.1983_1999delTACACCCTTGAGGCGAC	c.(1981-2001)actacacccttgaggcgaccgfs	p.TPLRRP662fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.TPLRRP624fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	662					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						GTTTCTGTCGGTCGCCTCAAGGGTGTAGTCTTTACAC	0.373			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)																																								SO:0001589	frameshift_variant	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1983_1999delTACACCCTTGAGGCGAC	X.37:g.76938749_76938765delGTCGCCTCAAGGGTGTA	ENSP00000362441:p.Thr662fs		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	CCDS14434.1																																																																																				0.373	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		90	92	90	92
ATRX	546	hgsc.bcm.edu	37	X	76938765	76938765	+	Silent	SNP	A	A	G			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chrX:76938765A>G	ENST00000373344.5	-	9	2197	c.1983T>C	c.(1981-1983)acT>acC	p.T661T	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Silent_p.T623T	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	661					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						TCAAGGGTGTAGTCTTTACAC	0.383			"""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)											134.0	139.0	137.0					X																	76938765		2203	4293	6496	SO:0001819	synonymous_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.1983T>C	X.37:g.76938765A>G			D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Silent	SNP	ENST00000373344.5	37	CCDS14434.1																																																																																				0.383	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		6	48	6	48
