#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
MAB21L1	4081	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	13	36049234	36049234	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr13:36049234C>G	ENST00000379919.4	-	1	1598	c.1042G>C	c.(1042-1044)Gag>Cag	p.E348Q	NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	348					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		GTCAGGATCTCTCTTGCCAGT	0.433																																																0													86.0	91.0	89.0					13																	36049234		2203	4300	6503	SO:0001583	missense	4081			BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"""mab-21 (C. elegans)-like 1"""			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.1042G>C	13.37:g.36049234C>G	ENSP00000369251:p.Glu348Gln		Q6I9T5	Missense_Mutation	SNP	ENST00000379919.4	37	CCDS9353.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.384724	0.42308	.	.	ENSG00000180660	ENST00000379919	T	0.19394	2.15	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.22399	0.0540	L	0.45581	1.43	0.80722	D	1	B	0.28378	0.209	B	0.23275	0.045	T	0.02232	-1.1191	10	0.26408	T	0.33	-14.9806	19.9576	0.97228	0.0:1.0:0.0:0.0	.	348	Q13394	MB211_HUMAN	Q	348	ENSP00000369251:E348Q	ENSP00000369251:E348Q	E	-	1	0	MAB21L1	34947234	1.000000	0.71417	0.965000	0.40720	0.966000	0.64601	7.818000	0.86416	2.736000	0.93811	0.655000	0.94253	GAG		0.433	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	NM_005584		37	87	37	87
ADCY4	196883	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	14	24787720	24787720	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr14:24787720G>A	ENST00000310677.4	-	26	3249	c.3136C>T	c.(3136-3138)Cgg>Tgg	p.R1046W	ADCY4_ENST00000418030.2_Missense_Mutation_p.R1046W|ADCY4_ENST00000554068.2_Missense_Mutation_p.R1046W	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	1046					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		ATGACACCCCGGCTGTAGCAG	0.562																																																0													113.0	102.0	106.0					14																	24787720		2203	4300	6503	SO:0001583	missense	196883			AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.3136C>T	14.37:g.24787720G>A	ENSP00000312126:p.Arg1046Trp		B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	37	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032896	0.75504	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030	T;T;T	0.34472	1.36;1.36;1.36	5.52	3.6	0.41247	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.000000	0.41500	D	0.000873	T	0.75525	0.3861	H	0.99435	4.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85481	0.1179	10	0.87932	D	0	.	12.945	0.58367	0.0:0.0:0.7086:0.2914	.	1046	Q8NFM4	ADCY4_HUMAN	W	1046	ENSP00000312126:R1046W;ENSP00000452250:R1046W;ENSP00000393177:R1046W	ENSP00000312126:R1046W	R	-	1	2	ADCY4	23857560	0.988000	0.35896	0.987000	0.45799	0.945000	0.59286	1.048000	0.30379	1.280000	0.44463	0.655000	0.94253	CGG		0.562	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			27	63	27	63
MYO9A	4649	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	72172772	72172772	+	Silent	SNP	G	G	A			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr15:72172772G>A	ENST00000356056.5	-	29	5998	c.5526C>T	c.(5524-5526)aaC>aaT	p.N1842N	MYO9A_ENST00000444904.1_Silent_p.N1823N|MYO9A_ENST00000424560.1_Silent_p.N1913N|MYO9A_ENST00000564571.1_Silent_p.N1842N	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1842	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CCAAAGCCACGTTGCTAATCT	0.438																																																0													138.0	129.0	132.0					15																	72172772		2199	4297	6496	SO:0001819	synonymous_variant	4649			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.5526C>T	15.37:g.72172772G>A			B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Silent	SNP	ENST00000356056.5	37	CCDS10239.1																																																																																				0.438	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		48	109	48	109
ALDH1A3	220	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	101425495	101425495	+	Silent	SNP	C	C	T	rs2229182	byFrequency	TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr15:101425495C>T	ENST00000329841.5	+	2	655	c.123C>T	c.(121-123)caC>caT	p.H41H	RP11-66B24.8_ENST00000558568.1_lincRNA|ALDH1A3_ENST00000560555.1_3'UTR|ALDH1A3_ENST00000346623.6_Silent_p.H41H	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	41					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	ATGAATGGCACGAATCCAAGA	0.348																																																0													96.0	95.0	96.0					15																	101425495		2203	4300	6503	SO:0001819	synonymous_variant	220			U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"""Aldehyde dehydrogenases"""	409	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 3"""	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.123C>T	15.37:g.101425495C>T			Q6NT64	Silent	SNP	ENST00000329841.5	37	CCDS10389.1																																																																																				0.348	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313620.2			20	46	20	46
NFAT5	10725	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	69726213	69726213	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr16:69726213G>A	ENST00000354436.2	+	12	2749	c.2431G>A	c.(2431-2433)Gtt>Att	p.V811I	NFAT5_ENST00000349945.1_Missense_Mutation_p.V735I|NFAT5_ENST00000432919.1_Missense_Mutation_p.V829I|NFAT5_ENST00000393742.2_Missense_Mutation_p.V735I|NFAT5_ENST00000566899.1_Missense_Mutation_p.V735I|NFAT5_ENST00000567239.1_Missense_Mutation_p.V828I	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	811					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GTTATCTTCAGTTTTATTTTC	0.448																																																0													107.0	107.0	107.0					16																	69726213		2198	4300	6498	SO:0001583	missense	10725			AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.2431G>A	16.37:g.69726213G>A	ENSP00000346420:p.Val811Ile		A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656154	0.67586	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.55052	0.54;0.63;0.62;0.63	6.08	6.08	0.98989	.	0.086924	0.48767	D	0.000177	T	0.69931	0.3166	M	0.61703	1.905	0.50813	D	0.999895	D;D;D	0.64830	0.994;0.994;0.994	D;D;D	0.70716	0.97;0.97;0.97	T	0.60042	-0.7340	10	0.17832	T	0.49	-3.0662	20.6634	0.99662	0.0:0.0:1.0:0.0	.	828;811;829	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	I	829;828;735;811;735	ENSP00000396538:V829I;ENSP00000338806:V735I;ENSP00000346420:V811I;ENSP00000377343:V735I	ENSP00000338806:V735I	V	+	1	0	NFAT5	68283714	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.778000	0.75043	2.894000	0.99253	0.655000	0.94253	GTT		0.448	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		44	87	44	87
LPO	4025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	56342147	56342147	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr17:56342147C>T	ENST00000262290.4	+	10	1647	c.1331C>T	c.(1330-1332)cCa>cTa	p.P444L	LPO_ENST00000421678.2_Missense_Mutation_p.P361L|LPO_ENST00000582328.1_Missense_Mutation_p.P361L|LPO_ENST00000543544.1_Missense_Mutation_p.P385L	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	444					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TGGATACCCCCATATCAAGGC	0.478																																																0													103.0	103.0	103.0					17																	56342147		2203	4300	6503	SO:0001583	missense	4025			M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.1331C>T	17.37:g.56342147C>T	ENSP00000262290:p.Pro444Leu		A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	ENST00000262290.4	37	CCDS32689.1	.	.	.	.	.	.	.	.	.	.	C	8.205	0.798989	0.16397	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544;ENST00000389576	T;T;T	0.69040	-0.37;-0.37;-0.37	5.95	4.94	0.65067	.	0.341736	0.31809	N	0.007027	T	0.44891	0.1315	L	0.31420	0.93	0.18873	N	0.999983	B;B	0.21520	0.001;0.057	B;B	0.21917	0.002;0.037	T	0.31586	-0.9938	10	0.08599	T	0.76	-10.5889	3.2061	0.06666	0.2196:0.5438:0.1421:0.0945	.	361;444	E7EMJ3;P22079	.;PERL_HUMAN	L	444;361;385;189	ENSP00000262290:P444L;ENSP00000400245:P361L;ENSP00000445344:P385L	ENSP00000262290:P444L	P	+	2	0	LPO	53697146	0.000000	0.05858	0.956000	0.39512	0.384000	0.30261	-0.501000	0.06398	2.824000	0.97209	0.655000	0.94253	CCA		0.478	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1			35	49	35	49
C19orf25	148223	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	1481915	1481915	+	5'Flank	SNP	C	C	T	rs145279692		TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr19:1481915C>T	ENST00000436106.2	-	0	0				C19orf25_ENST00000588427.1_5'Flank|C19orf25_ENST00000586564.1_5'Flank|C19orf25_ENST00000592872.1_5'Flank|C19orf25_ENST00000591027.1_5'Flank|C19orf25_ENST00000588849.1_5'Flank|C19orf25_ENST00000427685.2_5'Flank|C19orf25_ENST00000588871.1_5'Flank|PCSK4_ENST00000300954.5_Missense_Mutation_p.R704H|C19orf25_ENST00000585675.1_5'Flank|CTB-25B13.6_ENST00000585643.1_RNA			Q9UFG5	CS025_HUMAN	chromosome 19 open reading frame 25														Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTGGGCAGCGGTGGTGGGG	0.711																																																0								C	HIS/ARG	3,4379		0,3,2188	15.0	18.0	17.0		2111	-3.4	0.0	19	dbSNP_134	17	0,8562		0,0,4281	no	missense	PCSK4	NM_017573.3	29	0,3,6469	TT,TC,CC		0.0,0.0685,0.0232	benign	704/756	1481915	3,12941	2191	4281	6472	SO:0001631	upstream_gene_variant	54760			AK075267	CCDS45898.1	19p13.3	2012-10-24			ENSG00000119559	ENSG00000119559			26711	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_152482		Approved	FLJ36666	uc010dsk.3	Q9UFG5	OTTHUMG00000180092		19.37:g.1481915C>T	Exception_encountered		B3KQN6|Q8N9R7|Q8WV94	Missense_Mutation	SNP	ENST00000436106.2	37	CCDS45898.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.298080	0.23650	6.85E-4	0.0	ENSG00000115257	ENST00000300954	T	0.70164	-0.46	3.73	-3.36	0.04913	Growth factor, receptor (1);	.	.	.	.	T	0.42517	0.1206	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.20438	-1.0275	9	0.21540	T	0.41	.	3.7635	0.08613	0.255:0.3608:0.0:0.3842	.	704	Q6UW60	PCSK4_HUMAN	H	704	ENSP00000300954:R704H	ENSP00000300954:R704H	R	-	2	0	PCSK4	1432915	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-2.876000	0.00717	-0.161000	0.10983	0.313000	0.20887	CGC		0.711	C19orf25-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449694.1	NM_152482		9	17	9	17
ZNF256	10172	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	58453810	58453810	+	Silent	SNP	T	T	C			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr19:58453810T>C	ENST00000282308.3	-	3	562	c.366A>G	c.(364-366)gcA>gcG	p.A122A	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	122					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|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)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		GTTTCCTACATGCCCCGTCTG	0.458																																					NSCLC(55;1313 1552 8040 11996)											0													246.0	213.0	224.0					19																	58453810		2203	4300	6503	SO:0001819	synonymous_variant	10172			AF067165	CCDS12966.1	19q13	2013-01-08				ENSG00000152454		"""Zinc fingers, C2H2-type"", ""-"""	13049	protein-coding gene	gene with protein product		606956					Standard	NM_005773		Approved	BMZF-3	uc002qqu.3	Q9Y2P7		ENST00000282308.3:c.366A>G	19.37:g.58453810T>C			B2RA92|Q53Y85|Q9BV71	Silent	SNP	ENST00000282308.3	37	CCDS12966.1																																																																																				0.458	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466702.1			52	98	52	98
KLHDC7A	127707	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	18809173	18809173	+	Silent	SNP	G	G	A			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr1:18809173G>A	ENST00000400664.1	+	1	1750	c.1698G>A	c.(1696-1698)acG>acA	p.T566T		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	566						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCGCTCACGGGGATCTGGA	0.667																																																0													11.0	14.0	13.0					1																	18809173		2171	4274	6445	SO:0001819	synonymous_variant	127707			AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1698G>A	1.37:g.18809173G>A			Q8N8W6	Silent	SNP	ENST00000400664.1	37	CCDS185.2																																																																																				0.667	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		15	30	15	30
SLC9A1	6548	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	27440680	27440680	+	Silent	SNP	G	G	A			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr1:27440680G>A	ENST00000263980.3	-	2	1025	c.450C>T	c.(448-450)ggC>ggT	p.G150G	SLC9A1_ENST00000374086.3_Silent_p.G150G|SLC9A1_ENST00000545949.1_Intron	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	150					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)	p.G150G(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	GGGGTGTCTCGCCTACACCCT	0.617																																																1	Substitution - coding silent(1)	endometrium(1)											64.0	63.0	63.0					1																	27440680		2203	4300	6503	SO:0001819	synonymous_variant	6548			M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"""Solute carriers"""	11071	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 143"""	107310	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 1"""	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.450C>T	1.37:g.27440680G>A			B1ALD6|D3DPL4|Q96EM2	Silent	SNP	ENST00000263980.3	37	CCDS295.1																																																																																				0.617	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012336.2	NM_003047		32	42	32	42
CYP4B1	1580	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	47279204	47279204	+	Silent	SNP	C	C	T	rs147120348	byFrequency	TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr1:47279204C>T	ENST00000271153.4	+	5	582	c.546C>T	c.(544-546)tgC>tgT	p.C182C	CYP4B1_ENST00000371923.4_Silent_p.C182C|CYP4B1_ENST00000371919.4_Silent_p.C167C|CYP4B1_ENST00000452782.2_Silent_p.C19C			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	182					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	ACATCTTCTGCGATGTGGGTC	0.582													C|||	2	0.000399361	0.0	0.0	5008	,	,		22030	0.0		0.0	False		,,,				2504	0.002															0								C	,	0,4406		0,0,2203	120.0	114.0	116.0		546,546	0.0	0.9	1	dbSNP_134	116	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous	CYP4B1	NM_000779.3,NM_001099772.1	,	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	,	182/512,182/513	47279204	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	1580			BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"""Cytochrome P450s"""	2644	protein-coding gene	gene with protein product		124075	"""cytochrome P450, subfamily IVB, polypeptide 1"""				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.546C>T	1.37:g.47279204C>T			Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Silent	SNP	ENST00000271153.4	37	CCDS542.1																																																																																				0.582	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779		31	39	31	39
LPHN2	23266	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	82434955	82434955	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr1:82434955T>C	ENST00000370728.1	+	17	3250	c.2605T>C	c.(2605-2607)Ttc>Ctc	p.F869L	LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000271029.4_Missense_Mutation_p.F869L|LPHN2_ENST00000370717.2_Missense_Mutation_p.F869L|LPHN2_ENST00000370723.1_Missense_Mutation_p.F856L|LPHN2_ENST00000370730.1_Missense_Mutation_p.F869L|LPHN2_ENST00000370715.1_Missense_Mutation_p.F856L|LPHN2_ENST00000335786.5_Missense_Mutation_p.F869L|LPHN2_ENST00000359929.3_Missense_Mutation_p.F856L|LPHN2_ENST00000370727.1_Missense_Mutation_p.F869L|LPHN2_ENST00000370721.1_Missense_Mutation_p.F794L|LPHN2_ENST00000394879.1_Missense_Mutation_p.F856L|LPHN2_ENST00000370725.1_Missense_Mutation_p.F869L|LPHN2_ENST00000370713.1_Missense_Mutation_p.F856L|LPHN2_ENST00000319517.6_Missense_Mutation_p.F856L			O95490	LPHN2_HUMAN	latrophilin 2	869					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CATCTTCACCTTCTGCTTTTT	0.393																																																0													306.0	268.0	281.0					1																	82434955		2203	4300	6503	SO:0001583	missense	23266			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.2605T>C	1.37:g.82434955T>C	ENSP00000359763:p.Phe869Leu		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37		.	.	.	.	.	.	.	.	.	.	T	25.9	4.680305	0.88542	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.34803	0.0910	L	0.55481	1.735	0.80722	D	1	P;B;P	0.43477	0.521;0.257;0.808	P;B;P	0.46452	0.457;0.147;0.517	T	0.13124	-1.0521	10	0.39692	T	0.17	.	15.1257	0.72481	0.0:0.0:0.0:1.0	.	856;856;856	O95490-3;O95490-4;O95490-2	.;.;.	L	794;869;869;869;869;856;856;856;856;856;869;856;869;869	ENSP00000359756:F794L;ENSP00000359763:F869L;ENSP00000359765:F869L;ENSP00000359762:F869L;ENSP00000359760:F869L;ENSP00000359758:F856L;ENSP00000353006:F856L;ENSP00000359750:F856L;ENSP00000359748:F856L;ENSP00000322270:F856L;ENSP00000359752:F869L;ENSP00000378344:F856L;ENSP00000271029:F869L;ENSP00000337306:F869L	ENSP00000271029:F869L	F	+	1	0	LPHN2	82207543	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.040000	0.89188	1.971000	0.57363	0.477000	0.44152	TTC		0.393	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		47	131	47	131
ETV3	2117	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	157105467	157105467	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr1:157105467T>A	ENST00000368192.4	-	3	144	c.80A>T	c.(79-81)gAg>gTg	p.E27V	ETV3_ENST00000460850.1_5'UTR|ETV3_ENST00000326786.4_Missense_Mutation_p.E27V	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	27					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				TGGGGATGACTCTGTTTTGTA	0.527																																																0													115.0	110.0	112.0					1																	157105467		2203	4300	6503	SO:0001583	missense	2117			BC022868	CCDS1164.1, CCDS44250.1	1q21-q23	2008-09-12	2008-09-12		ENSG00000117036	ENSG00000117036			3492	protein-coding gene	gene with protein product		164873	"""ets variant gene 3, ETS family transcriptional repressor"", ""ets variant gene 3"""			8020980	Standard	NM_005240		Approved	PE-1	uc001fqr.2	P41162	OTTHUMG00000034298	ENST00000368192.4:c.80A>T	1.37:g.157105467T>A	ENSP00000357175:p.Glu27Val		B4E3M7|Q8TAC8|Q9BX30	Missense_Mutation	SNP	ENST00000368192.4	37	CCDS44250.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.365979	0.82463	.	.	ENSG00000117036	ENST00000368192;ENST00000326786	T;T	0.19806	2.24;2.12	5.32	5.32	0.75619	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.20210	0.0486	L	0.27053	0.805	0.80722	D	1	P;D	0.71674	0.936;0.998	P;D	0.67900	0.69;0.954	T	0.03463	-1.1034	10	0.30854	T	0.27	.	14.5454	0.68027	0.0:0.0:0.0:1.0	.	27;27	P41162-2;P41162	.;ETV3_HUMAN	V	27	ENSP00000357175:E27V;ENSP00000327316:E27V	ENSP00000327316:E27V	E	-	2	0	ETV3	155372091	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.891000	0.69782	2.138000	0.66242	0.533000	0.62120	GAG		0.527	ETV3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082843.2	NM_005240		44	73	44	73
SIPA1L2	57568	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	232538163	232538163	+	Missense_Mutation	SNP	C	C	T	rs368811235		TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr1:232538163C>T	ENST00000366630.1	-	21	5355	c.4997G>A	c.(4996-4998)cGa>cAa	p.R1666Q	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R1666Q|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.R722Q			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1666					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTGGAGTTGTCGAAGAATTAA	0.393																																																0								C	GLN/ARG	0,3692		0,0,1846	139.0	131.0	134.0		4997	5.5	0.4	1		134	2,8180		0,2,4089	no	missense	SIPA1L2	NM_020808.3	43	0,2,5935	TT,TC,CC		0.0244,0.0,0.0168	probably-damaging	1666/1723	232538163	2,11872	1846	4091	5937	SO:0001583	missense	57568			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.4997G>A	1.37:g.232538163C>T	ENSP00000355589:p.Arg1666Gln		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.350912	0.61183	0.0	2.44E-4	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	T;T;T	0.35048	1.33;1.33;1.33	5.47	5.47	0.80525	.	0.063176	0.64402	D	0.000006	T	0.51109	0.1655	L	0.58101	1.795	0.34667	D	0.723291	D;D	0.64830	0.994;0.976	P;P	0.53450	0.726;0.587	T	0.61148	-0.7121	10	0.59425	D	0.04	-5.1055	19.5817	0.95469	0.0:1.0:0.0:0.0	.	1666;722	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	Q	1666;1666;722	ENSP00000355589:R1666Q;ENSP00000262861:R1666Q;ENSP00000309102:R722Q	ENSP00000262861:R1666Q	R	-	2	0	SIPA1L2	230604786	1.000000	0.71417	0.384000	0.26145	0.096000	0.18686	3.703000	0.54808	2.850000	0.98022	0.650000	0.86243	CGA		0.393	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		25	31	25	31
SSTR4	6754	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	23017075	23017075	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr20:23017075C>T	ENST00000255008.3	+	1	1019	c.955C>T	c.(955-957)Cgc>Tgc	p.R319C	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	319					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CGACAACTTCCGCCGATTCTT	0.587																																					Esophageal Squamous(15;850 1104 16640)											0													85.0	91.0	89.0					20																	23017075		2199	4300	6499	SO:0001583	missense	6754				CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.955C>T	20.37:g.23017075C>T	ENSP00000255008:p.Arg319Cys		Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.701640	0.30142	.	.	ENSG00000132671	ENST00000255008	T	0.58358	0.34	3.65	2.64	0.31445	.	0.000000	0.64402	U	0.000006	T	0.62221	0.2410	L	0.55990	1.75	0.45690	D	0.998607	D	0.89917	1.0	D	0.67231	0.95	T	0.65142	-0.6240	10	0.87932	D	0	.	9.5473	0.39288	0.3639:0.6361:0.0:0.0	.	319	P31391	SSR4_HUMAN	C	319	ENSP00000255008:R319C	ENSP00000255008:R319C	R	+	1	0	SSTR4	22965075	0.071000	0.21146	0.988000	0.46212	0.235000	0.25334	0.158000	0.16422	1.852000	0.53769	0.655000	0.94253	CGC		0.587	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			46	57	46	57
TANC1	85461	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	160050870	160050870	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr2:160050870G>A	ENST00000263635.6	+	17	3082	c.2845G>A	c.(2845-2847)Gaa>Aaa	p.E949K	TANC1_ENST00000454300.1_Missense_Mutation_p.E843K	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	949					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TGGCCACGAGGAAGTTGTCAC	0.552																																																0													73.0	75.0	74.0					2																	160050870		2088	4214	6302	SO:0001583	missense	85461			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.2845G>A	2.37:g.160050870G>A	ENSP00000263635:p.Glu949Lys		C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	G	35	5.579418	0.96565	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.19532	2.14;2.14	5.51	5.51	0.81932	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.36663	0.0975	L	0.28274	0.84	0.80722	D	1	D;D;D	0.76494	0.999;0.993;0.97	D;P;P	0.81914	0.995;0.84;0.846	T	0.15122	-1.0448	10	0.66056	D	0.02	.	19.4918	0.95052	0.0:0.0:1.0:0.0	.	941;843;949	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	K	843;949	ENSP00000396339:E843K;ENSP00000263635:E949K	ENSP00000263635:E949K	E	+	1	0	TANC1	159759116	1.000000	0.71417	0.987000	0.45799	0.968000	0.65278	9.865000	0.99609	2.616000	0.88540	0.558000	0.71614	GAA		0.552	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			26	48	26	48
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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			21	62	21	62
FEV	54738	hgsc.bcm.edu;broad.mit.edu	37	2	219846970	219846970	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr2:219846970G>C	ENST00000295727.1	-	3	717	c.136C>G	c.(136-138)Cag>Gag	p.Q46E	LINC00608_ENST00000432733.1_lincRNA	NM_017521.2	NP_059991.1	Q99581	FEV_HUMAN	FEV (ETS oncogene family)	46					cell differentiation (GO:0030154)|neuron fate specification (GO:0048665)|neuron maturation (GO:0042551)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)		EWSR1/FEV(11)|FUS/FEV(2)	large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCTGGATCTGTCCGCTGCCT	0.697			T	"""EWSR1,  FUS"""	Ewing sarcoma																																NSCLC(198;941 2228 4658 24163 34665)		Dom	yes		2	2q36	54738	FEV protein - (HSRNAFEV)		M	0													5.0	6.0	5.0					2																	219846970		2111	4165	6276	SO:0001583	missense	54738				CCDS2428.1	2q36	2008-02-05			ENSG00000163497	ENSG00000163497			18562	protein-coding gene	gene with protein product		607150	"""FEV (fifth Ewing variant)"""			9121764	Standard	NM_017521		Approved	Pet-1	uc002vji.1	Q99581	OTTHUMG00000133080	ENST00000295727.1:c.136C>G	2.37:g.219846970G>C	ENSP00000295727:p.Gln46Glu			Missense_Mutation	SNP	ENST00000295727.1	37	CCDS2428.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.641615	0.87859	.	.	ENSG00000163497	ENST00000295727	T	0.55413	0.52	3.59	3.59	0.41128	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (2);	0.000000	0.64402	U	0.000003	T	0.76357	0.3976	M	0.90977	3.165	0.52099	D	0.999942	D	0.53885	0.963	D	0.68621	0.959	T	0.83048	-0.0154	10	0.87932	D	0	.	14.1321	0.65260	0.0:0.0:1.0:0.0	.	46	Q99581	FEV_HUMAN	E	46	ENSP00000295727:Q46E	ENSP00000295727:Q46E	Q	-	1	0	FEV	219555214	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.420000	0.97426	1.849000	0.53698	0.462000	0.41574	CAG		0.697	FEV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256725.1			8	6	8	6
SP140	11262	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	231150502	231150502	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr2:231150502G>A	ENST00000392045.3	+	17	1714	c.1600G>A	c.(1600-1602)Gaa>Aaa	p.E534K	SP140_ENST00000343805.6_Missense_Mutation_p.E474K|SP140_ENST00000417495.3_Missense_Mutation_p.E420K|SP140_ENST00000420434.3_Missense_Mutation_p.E507K|SP140_ENST00000350136.5_Missense_Mutation_p.E403K|SP140_ENST00000486687.2_Missense_Mutation_p.E458K	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	534					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GGTCTCCAGTGAAAAGAAGGC	0.458																																																0													161.0	161.0	161.0					2																	231150502		1862	4096	5958	SO:0001583	missense	11262			U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.1600G>A	2.37:g.231150502G>A	ENSP00000375899:p.Glu534Lys		E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	37	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	G	1.233	-0.623552	0.03636	.	.	ENSG00000079263	ENST00000486687;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434	T;T;T;T;T	0.56611	0.65;0.93;0.73;0.45;0.73	1.58	-1.58	0.08479	.	.	.	.	.	T	0.52058	0.1711	L	0.48642	1.525	0.09310	N	1	P;P;D;B	0.56035	0.956;0.956;0.974;0.279	P;P;D;B	0.70487	0.525;0.899;0.969;0.081	T	0.46871	-0.9160	9	0.02654	T	1	-0.0255	5.0546	0.14525	0.5991:0.0:0.4009:0.0	.	507;420;474;534	E7EUR5;E7ESH9;E9PFJ6;Q13342	.;.;.;LY10_HUMAN	K	458;403;534;420;474;507	ENSP00000440107:E458K;ENSP00000345846:E403K;ENSP00000375899:E534K;ENSP00000342096:E474K;ENSP00000398210:E507K	ENSP00000342096:E474K	E	+	1	0	SP140	230858746	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-1.659000	0.01975	-0.528000	0.06366	0.306000	0.20318	GAA		0.458	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		58	93	58	93
CADM2	253559	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	85984926	85984926	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr3:85984926C>G	ENST00000407528.2	+	6	745	c.683C>G	c.(682-684)tCa>tGa	p.S228*	CADM2_ENST00000405615.2_Nonsense_Mutation_p.S230*|CADM2_ENST00000383699.3_Nonsense_Mutation_p.S237*	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	228	Ig-like C2-type 2.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GATACACCATCAGTTAAGATT	0.328																																																0													97.0	103.0	101.0					3																	85984926		2203	4297	6500	SO:0001587	stop_gained	253559			AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.683C>G	3.37:g.85984926C>G	ENSP00000384575:p.Ser228*		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Nonsense_Mutation	SNP	ENST00000407528.2	37	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	C	34	5.384475	0.95967	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	.	.	.	5.65	5.65	0.86999	.	0.413977	0.27231	N	0.020311	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	13.4181	0.60980	0.0:0.9187:0.0:0.0813	.	.	.	.	X	237;228;230	.	ENSP00000373200:S237X	S	+	2	0	CADM2	86067616	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.807000	0.55591	2.665000	0.90641	0.650000	0.86243	TCA		0.328	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184		61	90	61	90
ALDH7A1	501	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	125885898	125885898	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr5:125885898G>A	ENST00000409134.3	-	15	1624	c.1405C>T	c.(1405-1407)Cgc>Tgc	p.R469C	ALDH7A1_ENST00000447989.2_Missense_Mutation_p.R432C|ALDH7A1_ENST00000553117.1_Missense_Mutation_p.R405C	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	469					cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|glycine betaine biosynthetic process from choline (GO:0019285)|lysine catabolic process (GO:0006554)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|betaine-aldehyde dehydrogenase activity (GO:0008802)|L-aminoadipate-semialdehyde dehydrogenase activity (GO:0004043)			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)		CCAAGCCAGCGAAAGATTCTG	0.348																																																0													106.0	105.0	105.0					5																	125885898		2203	4300	6503	SO:0001583	missense	501			S74728	CCDS4137.2, CCDS56380.1	5q31	2013-06-03			ENSG00000164904	ENSG00000164904	1.2.1.31	"""Aldehyde dehydrogenases"""	877	protein-coding gene	gene with protein product	"""antiquitin 1"", ""26g turgor protein homolog"", ""alpha-aminoadipic semialdehyde dehydrogenase"", ""alpha-AASA dehydrogenase"", ""delta1-piperideine-6-carboxylate dehydrogenease"", ""P6c dehydrogenase"""	107323		ATQ1		9417906	Standard	NM_001182		Approved	EPD, PDE	uc003ktx.3	P49419	OTTHUMG00000128942	ENST00000409134.3:c.1405C>T	5.37:g.125885898G>A	ENSP00000387123:p.Arg469Cys		B2R669|B4DIC7|B4DMA0|E7EPT3|O14619|Q6IPU8|Q9BUL4	Missense_Mutation	SNP	ENST00000409134.3	37	CCDS4137.2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951390	0.73787	.	.	ENSG00000164904	ENST00000409134;ENST00000553117;ENST00000447989;ENST00000437170	T;T;T	0.78924	-1.22;-1.22;-1.22	4.59	4.59	0.56863	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.051244	0.85682	D	0.000000	D	0.90611	0.7056	M	0.93507	3.425	0.54753	D	0.999987	D;D	0.89917	1.0;0.999	D;D	0.66847	0.947;0.924	D	0.93040	0.6456	10	0.72032	D	0.01	.	17.543	0.87853	0.0:0.0:1.0:0.0	.	432;469	E7EPT3;P49419	.;AL7A1_HUMAN	C	469;405;432;277	ENSP00000387123:R469C;ENSP00000448593:R405C;ENSP00000414132:R432C	ENSP00000387123:R469C	R	-	1	0	ALDH7A1	125913797	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.355000	0.66046	2.552000	0.86080	0.561000	0.74099	CGC		0.348	ALDH7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250921.2	NM_001182		23	66	23	66
MRAP2	112609	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	84799071	84799071	+	Silent	SNP	G	G	A	rs375536731		TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr6:84799071G>A	ENST00000257776.4	+	4	624	c.489G>A	c.(487-489)aaG>aaA	p.K163K		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	163					energy homeostasis (GO:0097009)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|positive regulation of cAMP biosynthetic process (GO:0030819)|protein localization to cell surface (GO:0034394)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	corticotropin hormone receptor binding (GO:0031780)|identical protein binding (GO:0042802)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)|type 5 melanocortin receptor binding (GO:0031783)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						GGCTCATGAAGTTTGACATCC	0.493																																																0								G		0,4406		0,0,2203	123.0	122.0	122.0		489	-0.8	1.0	6		122	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MRAP2	NM_138409.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		163/206	84799071	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	112609			AK090775	CCDS5001.1	6q14.3	2009-10-06	2008-07-16	2008-07-16	ENSG00000135324	ENSG00000135324			21232	protein-coding gene	gene with protein product		615410	"""chromosome 6 open reading frame 117"""	C6orf117			Standard	NM_138409		Approved	bA51G5.2	uc003pkg.4	Q96G30	OTTHUMG00000015121	ENST00000257776.4:c.489G>A	6.37:g.84799071G>A			A8K9M1|Q8IXM9|Q8N2D1	Silent	SNP	ENST00000257776.4	37	CCDS5001.1																																																																																				0.493	MRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041367.1	NM_138409		44	62	44	62
ABCA13	154664	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	48335325	48335325	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr7:48335325A>C	ENST00000435803.1	+	21	9008	c.8984A>C	c.(8983-8985)aAt>aCt	p.N2995T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2995					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCCTCGCCGAATCAGCTAAAT	0.393																																																0													126.0	128.0	127.0					7																	48335325		1884	4111	5995	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.8984A>C	7.37:g.48335325A>C	ENSP00000411096:p.Asn2995Thr		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	3.856	-0.030893	0.07543	.	.	ENSG00000179869	ENST00000435803	D	0.85339	-1.97	5.49	-11.0	0.00169	.	1.492070	0.04181	N	0.326422	T	0.68495	0.3007	N	0.24115	0.695	0.09310	N	1	B;B	0.13594	0.0;0.008	B;B	0.11329	0.001;0.006	T	0.57934	-0.7725	10	0.48119	T	0.1	.	2.9173	0.05757	0.1247:0.3813:0.1301:0.3639	.	697;2995	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	T	2995	ENSP00000411096:N2995T	ENSP00000411096:N2995T	N	+	2	0	ABCA13	48305871	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.781000	0.01774	-3.324000	0.00187	-0.290000	0.09829	AAT		0.393	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		45	96	45	96
TRPA1	8989	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	72946552	72946552	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr8:72946552C>A	ENST00000262209.4	-	22	2823	c.2616G>T	c.(2614-2616)agG>agT	p.R872S	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	872					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CAACTGTAGACCTCAACAAAG	0.294																																																0													74.0	76.0	75.0					8																	72946552		2203	4298	6501	SO:0001583	missense	8989			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2616G>T	8.37:g.72946552C>A	ENSP00000262209:p.Arg872Ser		A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.955293	0.34471	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.32023	1.47;1.47	5.84	1.01	0.19927	Ion transport (1);	0.187139	0.56097	D	0.000022	T	0.36248	0.0960	M	0.69185	2.1	0.39422	D	0.966939	P	0.45283	0.855	P	0.48524	0.58	T	0.12785	-1.0534	10	0.46703	T	0.11	-19.3515	8.8148	0.34989	0.0:0.5273:0.0:0.4727	.	872	O75762	TRPA1_HUMAN	S	724;872	ENSP00000428151:R724S;ENSP00000262209:R872S	ENSP00000262209:R872S	R	-	3	2	TRPA1	73109106	1.000000	0.71417	0.188000	0.23233	0.797000	0.45037	0.559000	0.23485	-0.104000	0.12154	-0.345000	0.07892	AGG		0.294	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		26	37	26	37
WWP1	11059	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	87443690	87443690	+	Silent	SNP	A	A	C			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr8:87443690A>C	ENST00000517970.1	+	13	1750	c.1443A>C	c.(1441-1443)acA>acC	p.T481T	WWP1_ENST00000341922.2_Silent_p.T351T|WWP1_ENST00000265428.4_Silent_p.T481T|WWP1_ENST00000349423.2_Silent_p.T263T	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	481	WW 3. {ECO:0000255|PROSITE- ProRule:PRU00224}.				central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						ACACAAAAACAACCCAGTGGG	0.348																																																0													72.0	72.0	72.0					8																	87443690		2203	4300	6503	SO:0001819	synonymous_variant	11059			AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.1443A>C	8.37:g.87443690A>C			O00307|Q5YLC1|Q96BP4	Silent	SNP	ENST00000517970.1	37	CCDS6242.1																																																																																				0.348	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		24	79	24	79
PPP1R26	9858	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	138379182	138379182	+	Silent	SNP	C	C	T			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr9:138379182C>T	ENST00000356818.2	+	4	3375	c.2826C>T	c.(2824-2826)acC>acT	p.T942T	PPP1R26_ENST00000605660.1_Silent_p.T942T|PPP1R26_ENST00000604351.1_Silent_p.T942T|PPP1R26_ENST00000401470.3_Silent_p.T942T|PPP1R26_ENST00000605286.1_Silent_p.T942T|PPP1R26_ENST00000602993.1_Intron	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	942					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										CCAGGAGCACCAGCGGCGGTG	0.652																																																0													31.0	37.0	35.0					9																	138379182		1972	3913	5885	SO:0001819	synonymous_variant	9858			AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.2826C>T	9.37:g.138379182C>T			Q86WU0|Q8WVV0|Q9Y4D3	Silent	SNP	ENST00000356818.2	37	CCDS6988.1																																																																																				0.652	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		63	55	63	55
A1CF	29974	broad.mit.edu;hgsc.bcm.edu	37	10	52596001	52596002	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr10:52596001_52596002insT	ENST00000373993.1	-	4	480_481	c.436_437insA	c.(436-438)accfs	p.T146fs	A1CF_ENST00000395495.1_Frame_Shift_Ins_p.T146fs|A1CF_ENST00000373997.3_Frame_Shift_Ins_p.T146fs|A1CF_ENST00000373995.3_Frame_Shift_Ins_p.T154fs|A1CF_ENST00000395489.2_Frame_Shift_Ins_p.T139fs|A1CF_ENST00000374001.2_Frame_Shift_Ins_p.T146fs|A1CF_ENST00000282641.2_Frame_Shift_Ins_p.T146fs			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	146	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TCTCTTTTTGGTTTTTGGGATG	0.446																																																0																																										SO:0001589	frameshift_variant	29974			AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.437dupA	10.37:g.52596006_52596006dupT	ENSP00000363105:p.Thr146fs		A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Frame_Shift_Ins	INS	ENST00000373993.1	37	CCDS7242.1																																																																																				0.446	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		39	104	39	104
TP53	7157	broad.mit.edu;hgsc.bcm.edu	37	17	7573996	7574003	+	Frame_Shift_Del	DEL	AGCTCTCG	AGCTCTCG	-	rs375573770|rs375338359|rs121912662		TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr17:7573996_7574003delAGCTCTCG	ENST00000269305.4	-	10	1213_1220	c.1024_1031delCGAGAGCT	c.(1024-1032)cgagagctgfs	p.REL342fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.REL342fs|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_3'UTR	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	342	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (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.R342*(70)|p.R342fs*3(9)|p.0?(8)|p.E343*(8)|p.R342P(3)|p.L344R(3)|p.L344fs*23(2)|p.R342Q(2)|p.L344P(2)|p.L344fs*22(1)|p.?(1)|p.R342_N345delRELN(1)|p.E343fs*3(1)|p.I332fs*5(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)	GGCCTCATTCAGCTCTCGGAACATCTCG	0.562		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"""	112	Substitution - Nonsense(78)|Deletion - Frameshift(12)|Substitution - Missense(10)|Whole gene deletion(8)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)	upper_aerodigestive_tract(18)|breast(17)|lung(12)|large_intestine(10)|central_nervous_system(9)|ovary(9)|liver(5)|skin(5)|pancreas(5)|haematopoietic_and_lymphoid_tissue(4)|oesophagus(4)|bone(4)|urinary_tract(3)|stomach(2)|biliary_tract(2)|peritoneum(1)|kidney(1)|endometrium(1)	GRCh37	CM004908|CM961377	TP53	M	rs121912662																																			SO:0001589	frameshift_variant	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.1024_1031delCGAGAGCT	17.37:g.7573996_7574003delAGCTCTCG	ENSP00000269305:p.Arg342fs		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																				0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		16	10	16	10
ATRX	546	broad.mit.edu;hgsc.bcm.edu	37	X	76938029	76938029	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chrX:76938029delG	ENST00000373344.5	-	9	2933	c.2719delC	c.(2719-2721)cgafs	p.R907fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.R869fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	907					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)|p.R907*(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						TTAGGAAGTCGATCTCTTAAT	0.418			"""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	2	Substitution - Nonsense(1)|Unknown(1)	lung(1)|bone(1)											189.0	173.0	179.0					X																	76938029		2203	4296	6499	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.2719delC	X.37:g.76938029delG	ENSP00000362441:p.Arg907fs		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	CCDS14434.1																																																																																				0.418	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		154	37	154	37
