#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
ANKRD30A	91074	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	37508692	37508692	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr10:37508692C>A	ENST00000602533.1	+	34	3983	c.3884C>A	c.(3883-3885)aCa>aAa	p.T1295K	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.T1295K|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.T1414K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1351					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGCAAGATAACAATTGATATT	0.294																																																0													42.0	40.0	41.0					10																	37508692		1833	4084	5917	SO:0001583	missense	91074			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3884C>A	10.37:g.37508692C>A	ENSP00000473551:p.Thr1295Lys		Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37		.	.	.	.	.	.	.	.	.	.	c	7.223	0.597728	0.13875	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.14266	2.52;2.52	2.76	-1.35	0.09114	.	.	.	.	.	T	0.10766	0.0263	L	0.48642	1.525	0.09310	N	1	P	0.35139	0.486	B	0.31191	0.125	T	0.19943	-1.0290	9	0.59425	D	0.04	.	7.4886	0.27447	0.0:0.2672:0.0:0.7328	.	1351	Q9BXX3	AN30A_HUMAN	K	1295;1414	ENSP00000354432:T1295K;ENSP00000363792:T1414K	ENSP00000354432:T1295K	T	+	2	0	ANKRD30A	37548698	0.878000	0.30173	0.000000	0.03702	0.001000	0.01503	1.619000	0.36965	-0.170000	0.10816	-1.287000	0.01368	ACA		0.294	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		10	24	10	24
OR13A1	79290	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	45799644	45799644	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr10:45799644G>C	ENST00000553795.1	-	4	535	c.227C>G	c.(226-228)cCt>cGt	p.P76R	OR13A1_ENST00000374401.2_Missense_Mutation_p.P76R|OR13A1_ENST00000536058.1_Missense_Mutation_p.P76R	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						AAAGTACATAGGAGCGTGGAG	0.517																																																0													93.0	103.0	99.0					10																	45799644		2203	4300	6503	SO:0001583	missense	79290			AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"""GPCR / Class A : Olfactory receptors"""	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.227C>G	10.37:g.45799644G>C	ENSP00000451950:p.Pro76Arg		Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Missense_Mutation	SNP	ENST00000553795.1	37	CCDS31188.1	.	.	.	.	.	.	.	.	.	.	g	11.45	1.642118	0.29157	.	.	ENSG00000256574	ENST00000553795;ENST00000536058;ENST00000374401	T;T;T	0.02032	4.49;4.49;4.49	5.14	2.16	0.27623	GPCR, rhodopsin-like superfamily (1);	0.177029	0.27366	N	0.019691	T	0.14056	0.0340	H	0.98426	4.23	0.30487	N	0.771727	P	0.34909	0.475	B	0.42995	0.404	T	0.15150	-1.0447	10	0.72032	D	0.01	-85.9096	14.6467	0.68767	0.0:0.4179:0.5821:0.0	.	76	Q8NGR1	O13A1_HUMAN	R	76	ENSP00000451950:P76R;ENSP00000438657:P76R;ENSP00000363522:P76R	ENSP00000311379:P76R	P	-	2	0	OR13A1	45119650	1.000000	0.71417	0.315000	0.25238	0.152000	0.21847	6.367000	0.73099	0.245000	0.21373	-0.162000	0.13425	CCT		0.517	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047779.2	NM_001004297		6	21	6	21
XPNPEP1	7511	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	111647887	111647887	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr10:111647887T>C	ENST00000502935.1	-	7	691	c.572A>G	c.(571-573)gAg>gGg	p.E191G	XPNPEP1_ENST00000369683.1_Missense_Mutation_p.E77G|XPNPEP1_ENST00000430337.1_5'UTR|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.E191G|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.E148G					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble											endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		AACGAGGTTCTCCTTGACAGG	0.522																																																0													83.0	72.0	76.0					10																	111647887		2203	4300	6503	SO:0001583	missense	7511				CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"""X-prolyl aminopeptidase (aminopeptidase P)-like"""	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.572A>G	10.37:g.111647887T>C	ENSP00000421566:p.Glu191Gly			Missense_Mutation	SNP	ENST00000502935.1	37	CCDS7560.2	.	.	.	.	.	.	.	.	.	.	T	16.44	3.124498	0.56613	.	.	ENSG00000108039	ENST00000502935;ENST00000369683;ENST00000322238;ENST00000369680;ENST00000403138;ENST00000423625	.	.	.	5.74	5.74	0.90152	Creatinase (1);	0.150702	0.64402	D	0.000015	T	0.45696	0.1355	L	0.35723	1.085	0.46981	D	0.999277	B;B;B	0.13594	0.008;0.0;0.001	B;B;B	0.14578	0.011;0.002;0.004	T	0.36553	-0.9743	9	0.25751	T	0.34	-14.9707	10.5932	0.45321	0.0:0.0745:0.0:0.9255	.	191;191;148	B4E2P4;G5E9Y2;Q9NQW7	.;.;XPP1_HUMAN	G	191;77;191;148;148;148	.	ENSP00000324011:E191G	E	-	2	0	XPNPEP1	111637877	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.282000	0.65615	2.182000	0.69389	0.496000	0.49642	GAG		0.522	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050264.2			5	18	5	18
OR9G1	390174	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	56468711	56468711	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr11:56468711T>G	ENST00000312153.1	+	1	848	c.848T>G	c.(847-849)aTg>aGg	p.M283R		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						GTATTCCCCATGTTGAATCTC	0.388																																																0													120.0	128.0	125.0					11																	56468711		2201	4296	6497	SO:0001583	missense	390174			AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.848T>G	11.37:g.56468711T>G	ENSP00000309012:p.Met283Arg		Q6IEU9|Q8NGQ0	Missense_Mutation	SNP	ENST00000312153.1	37	CCDS31536.1	.	.	.	.	.	.	.	.	.	.	T	15.52	2.859267	0.51376	.	.	ENSG00000174914	ENST00000312153	T	0.38887	1.11	4.62	4.62	0.57501	GPCR, rhodopsin-like superfamily (1);	0.194994	0.37178	N	0.002203	T	0.64789	0.2630	H	0.97611	4.04	0.34126	D	0.664709	P	0.41475	0.751	B	0.44044	0.439	D	0.83659	0.0160	10	0.87932	D	0	-30.6036	14.1253	0.65215	0.0:0.0:0.0:1.0	.	283	Q8NH87	OR9G1_HUMAN	R	283	ENSP00000309012:M283R	ENSP00000309012:M283R	M	+	2	0	OR9G1	56225287	0.043000	0.20138	1.000000	0.80357	0.911000	0.54048	1.829000	0.39121	2.044000	0.60594	0.519000	0.50382	ATG		0.388	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		19	142	19	142
OR9G4	283189	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	56511045	56511045	+	Silent	SNP	C	C	G			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr11:56511045C>G	ENST00000302957.3	-	1	242	c.243G>C	c.(241-243)ctG>ctC	p.L81L		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CCAAAAAAGACAGATTGCCAA	0.428																																																0													96.0	98.0	98.0					11																	56511045		2201	4296	6497	SO:0001819	synonymous_variant	283189			BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"""GPCR / Class A : Olfactory receptors"""	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.243G>C	11.37:g.56511045C>G			Q6IF62|Q96RA9	Silent	SNP	ENST00000302957.3	37	CCDS31537.1																																																																																				0.428	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1	NM_001005284		14	80	14	80
RAB38	23682	hgsc.bcm.edu;broad.mit.edu	37	11	87883114	87883114	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr11:87883114C>A	ENST00000243662.6	-	2	294	c.212G>T	c.(211-213)aGa>aTa	p.R71I		NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	71					endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome acidification (GO:0090383)|platelet dense granule organization (GO:0060155)|protein localization to membrane (GO:0072657)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GTTTCCAAATCTTTCTTGACC	0.383																																																0													161.0	174.0	169.0					11																	87883114		2201	4299	6500	SO:0001583	missense	23682			AF235022	CCDS8281.1	11q14	2008-05-14			ENSG00000123892	ENSG00000123892		"""RAB, member RAS oncogene"""	9776	protein-coding gene	gene with protein product		606281				10910072	Standard	NM_022337		Approved	NY-MEL-1	uc001pcj.2	P57729	OTTHUMG00000167288	ENST00000243662.6:c.212G>T	11.37:g.87883114C>A	ENSP00000243662:p.Arg71Ile		Q53XK7	Missense_Mutation	SNP	ENST00000243662.6	37	CCDS8281.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.6|28.6	4.930274|4.930274	0.92389|0.92389	.|.	.|.	ENSG00000123892|ENSG00000123892	ENST00000526372|ENST00000243662	.|T	.|0.79247	.|-1.25	5.22|5.22	5.22|5.22	0.72569|0.72569	.|Small GTP-binding protein domain (1);	.|0.047164	.|0.85682	.|D	.|0.000000	D|D	0.89846|0.89846	0.6833|0.6833	M|M	0.86420|0.86420	2.815|2.815	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	D|D	0.90824|0.90824	0.4711|0.4711	5|9	.|.	.|.	.|.	-2.988|-2.988	18.7836|18.7836	0.91944|0.91944	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|71	.|P57729	.|RAB38_HUMAN	N|I	69|71	.|ENSP00000243662:R71I	.|.	K|R	-|-	3|2	2|0	RAB38|RAB38	87522762|87522762	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.395000|7.395000	0.79876|0.79876	2.446000|2.446000	0.82766|0.82766	0.591000|0.591000	0.81541|0.81541	AAG|AGA		0.383	RAB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394015.2			20	308	20	308
ALX1	8092	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	85677644	85677644	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr12:85677644C>T	ENST00000316824.3	+	2	676	c.521C>T	c.(520-522)gCc>gTc	p.A174V		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	174					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		CTCACTGAGGCCAGGGTCCAG	0.443																																																0													73.0	80.0	77.0					12																	85677644		2203	4300	6503	SO:0001583	missense	8092			U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"""Homeoboxes / PRD class"""	1494	protein-coding gene	gene with protein product		601527	"""cartilage paired-class homeoprotein 1"""	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.521C>T	12.37:g.85677644C>T	ENSP00000315417:p.Ala174Val		Q546C8|Q96FH4	Missense_Mutation	SNP	ENST00000316824.3	37	CCDS9028.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038458	0.93630	.	.	ENSG00000180318	ENST00000316824	D	0.96491	-4.03	5.93	5.93	0.95920	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97458	0.9168	M	0.68728	2.09	0.80722	D	1	P	0.50272	0.933	P	0.58391	0.838	D	0.96432	0.9320	10	0.37606	T	0.19	.	20.3368	0.98748	0.0:1.0:0.0:0.0	.	174	Q15699	ALX1_HUMAN	V	174	ENSP00000315417:A174V	ENSP00000315417:A174V	A	+	2	0	ALX1	84201775	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.805000	0.96524	0.655000	0.94253	GCC		0.443	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	NM_006982		18	85	18	85
POSTN	10631	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	13	38153417	38153417	+	Silent	SNP	A	A	G			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr13:38153417A>G	ENST00000379747.4	-	13	1857	c.1740T>C	c.(1738-1740)ggT>ggC	p.G580G	POSTN_ENST00000379742.4_Silent_p.G580G|POSTN_ENST00000379749.4_Silent_p.G580G|POSTN_ENST00000379743.4_Silent_p.G580G|POSTN_ENST00000541481.1_Silent_p.G580G|POSTN_ENST00000541179.1_Silent_p.G580G	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	580	FAS1 4. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TGTTAGTAACACCAGGTTCAA	0.333																																																0													78.0	77.0	77.0					13																	38153417		2203	4296	6499	SO:0001819	synonymous_variant	10631			D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.1740T>C	13.37:g.38153417A>G			B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Silent	SNP	ENST00000379747.4	37	CCDS9364.1																																																																																				0.333	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		11	30	11	30
ESR2	2100	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	14	64735545	64735545	+	Missense_Mutation	SNP	C	C	T	rs368924653		TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr14:64735545C>T	ENST00000341099.4	-	4	1037	c.620G>A	c.(619-621)cGg>cAg	p.R207Q	ESR2_ENST00000267525.6_Missense_Mutation_p.R207Q|ESR2_ENST00000357782.2_Missense_Mutation_p.R207Q|ESR2_ENST00000358599.5_Missense_Mutation_p.R207Q|ESR2_ENST00000553796.1_Missense_Mutation_p.R207Q|ESR2_ENST00000542956.1_Missense_Mutation_p.R207Q|ESR2_ENST00000353772.3_Missense_Mutation_p.R207Q|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000554572.1_Missense_Mutation_p.R207Q|ESR2_ENST00000555278.1_Missense_Mutation_p.R207Q|ESR2_ENST00000557772.1_Missense_Mutation_p.R207Q	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	207					brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	GTAACACTTCCGAAGTCGGCA	0.478																																																0								C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	1,0,2202	128.0	125.0	126.0		620,620,620,620,620	5.7	1.0	14		126	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	ESR2	NM_001040275.1,NM_001040276.1,NM_001214902.1,NM_001214903.1,NM_001437.2	43,43,43,43,43	1,0,6502	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	207/496,207/496,207/482,207/473,207/531	64735545	2,13004	2203	4300	6503	SO:0001583	missense	2100			X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"""Nuclear hormone receptors"""	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.620G>A	14.37:g.64735545C>T	ENSP00000343925:p.Arg207Gln		A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Missense_Mutation	SNP	ENST00000341099.4	37	CCDS9762.1	.	.	.	.	.	.	.	.	.	.	C	36	5.839260	0.97009	4.54E-4	0.0	ENSG00000140009	ENST00000556275;ENST00000542956;ENST00000554572;ENST00000353772;ENST00000358599;ENST00000555278;ENST00000553796;ENST00000357782;ENST00000557772;ENST00000341099;ENST00000267525	D;D;D;D;D;D;D;D;D;D;T	0.97303	-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;0.47	5.67	5.67	0.87782	Zinc finger, NHR/GATA-type (1);Nuclear hormone receptor, ligand-binding (1);Zinc finger, nuclear hormone receptor-type (4);	0.057351	0.64402	D	0.000001	D	0.95865	0.8654	N	0.03948	-0.315	0.80722	D	1	D;D;D;D;D	0.76494	0.997;0.999;0.999;0.997;0.999	D;D;D;P;D	0.70227	0.95;0.968;0.928;0.897;0.957	D	0.97988	1.0353	10	0.87932	D	0	.	19.7793	0.96412	0.0:1.0:0.0:0.0	.	207;207;207;207;207	Q92731-7;Q92731;Q92731-6;Q92731-5;F1D8N3	.;ESR2_HUMAN;.;.;.	Q	207	ENSP00000452485:R207Q;ENSP00000441792:R207Q;ENSP00000450699:R207Q;ENSP00000335551:R207Q;ENSP00000351412:R207Q;ENSP00000450488:R207Q;ENSP00000452426:R207Q;ENSP00000350427:R207Q;ENSP00000451582:R207Q;ENSP00000343925:R207Q;ENSP00000267525:R207Q	ENSP00000267525:R207Q	R	-	2	0	ESR2	63805298	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.731000	0.84895	2.678000	0.91216	0.555000	0.69702	CGG		0.478	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280621.1			13	97	13	97
TC2N	123036	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	14	92268712	92268712	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr14:92268712G>T	ENST00000435962.2	-	4	678	c.355C>A	c.(355-357)Cag>Aag	p.Q119K	TC2N_ENST00000340892.5_Missense_Mutation_p.Q119K|TC2N_ENST00000360594.5_Missense_Mutation_p.Q119K|TC2N_ENST00000556018.1_Missense_Mutation_p.Q119K	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	119					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		GGTCCGTGCTGGGATGAACTG	0.418																																																0													126.0	101.0	110.0					14																	92268712		2203	4300	6503	SO:0001583	missense	123036			AA243837	CCDS9897.1, CCDS73679.1	14q32.12	2007-10-17	2007-08-17	2007-08-17		ENSG00000165929			19859	protein-coding gene	gene with protein product	"""C2 calcium-dependent domain containing 1"""		"""chromosome 14 open reading frame 47"", ""membrane targeting (tandem) C2 domain containing 1"""	C14orf47, MTAC2D1		11526914	Standard	NM_001128596		Approved	FLJ36557, Tac2-N, C2CD1	uc001xzt.4	Q8N9U0		ENST00000435962.2:c.355C>A	14.37:g.92268712G>T	ENSP00000387882:p.Gln119Lys			Missense_Mutation	SNP	ENST00000435962.2	37	CCDS9897.1	.	.	.	.	.	.	.	.	.	.	G	8.335	0.827452	0.16749	.	.	ENSG00000165929	ENST00000435962;ENST00000340892;ENST00000360594;ENST00000556018	T;T;T;T	0.14640	3.4;3.4;3.4;2.49	5.23	3.13	0.36017	.	0.594456	0.18094	N	0.151893	T	0.11239	0.0274	L	0.43152	1.355	0.09310	N	1	B;B	0.30281	0.275;0.181	B;B	0.24701	0.055;0.036	T	0.18429	-1.0337	10	0.27785	T	0.31	0.0118	10.6527	0.45657	0.2094:0.0:0.7906:0.0	.	119;119	Q8N9U0-2;Q8N9U0	.;TAC2N_HUMAN	K	119	ENSP00000387882:Q119K;ENSP00000343199:Q119K;ENSP00000353802:Q119K;ENSP00000451317:Q119K	ENSP00000343199:Q119K	Q	-	1	0	TC2N	91338465	0.743000	0.28239	0.087000	0.20705	0.642000	0.38348	2.511000	0.45476	1.185000	0.42971	0.557000	0.71058	CAG		0.418	TC2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411778.1	NM_152332		14	72	14	72
CLDN6	9074	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	3065807	3065807	+	Silent	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr16:3065807C>T	ENST00000396925.1	-	3	644	c.216G>A	c.(214-216)gcG>gcA	p.A72A	CLDN6_ENST00000572154.1_Intron|TNFRSF12A_ENST00000573001.1_5'Flank|CLDN6_ENST00000328796.4_Silent_p.A72A			P56747	CLD6_HUMAN	claudin 6	72					calcium-independent cell-cell adhesion (GO:0016338)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						CCTGTGGCAGCGCCAGCAGTG	0.642																																																0													97.0	72.0	80.0					16																	3065807		2198	4300	6498	SO:0001819	synonymous_variant	9074			AJ249735	CCDS10488.1	16p13.3	2008-08-01			ENSG00000184697	ENSG00000184697		"""Claudins"""	2048	protein-coding gene	gene with protein product		615798				9892664, 18234789	Standard	NM_021195		Approved		uc002csu.4	P56747	OTTHUMG00000128999	ENST00000396925.1:c.216G>A	16.37:g.3065807C>T			B3KQP9|D3DUA5	Silent	SNP	ENST00000396925.1	37	CCDS10488.1																																																																																				0.642	CLDN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250988.1	NM_021195		22	31	22	31
TNRC6A	27327	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	24802267	24802267	+	Silent	SNP	T	T	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr16:24802267T>C	ENST00000395799.3	+	6	2433	c.2304T>C	c.(2302-2304)gaT>gaC	p.D768D	TNRC6A_ENST00000315183.7_Silent_p.D768D	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	768	Interaction with argonaute family proteins.|Sufficient for interaction with AGO1 and AGO4.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CATGTATAGATAAGACTAGCC	0.498																																																0													45.0	49.0	48.0					16																	24802267		2196	4300	6496	SO:0001819	synonymous_variant	27327			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.2304T>C	16.37:g.24802267T>C			C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Silent	SNP	ENST00000395799.3	37	CCDS10624.2																																																																																				0.498	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		12	39	12	39
ANKRD11	29123	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	89348536	89348536	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr16:89348536C>T	ENST00000301030.4	-	9	4874	c.4414G>A	c.(4414-4416)Gag>Aag	p.E1472K	ANKRD11_ENST00000378330.2_Missense_Mutation_p.E1472K	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1472	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		ctctccttctcgtctctccat	0.532																																																0													103.0	62.0	76.0					16																	89348536		2198	4300	6498	SO:0001583	missense	29123			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.4414G>A	16.37:g.89348536C>T	ENSP00000301030:p.Glu1472Lys		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	C	9.813	1.183676	0.21870	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.38887	1.11;1.11	4.89	4.89	0.63831	.	0.127805	0.52532	D	0.000069	T	0.35068	0.0919	M	0.62723	1.935	0.80722	D	1	P	0.47302	0.893	B	0.35312	0.2	T	0.33214	-0.9877	10	0.09338	T	0.73	.	16.1886	0.81971	0.0:1.0:0.0:0.0	.	1472	Q6UB99	ANR11_HUMAN	K	1472	ENSP00000301030:E1472K;ENSP00000367581:E1472K	ENSP00000301030:E1472K	E	-	1	0	ANKRD11	87876037	1.000000	0.71417	0.051000	0.19133	0.089000	0.18198	5.129000	0.64739	2.411000	0.81874	0.563000	0.77884	GAG		0.532	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		10	32	10	32
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7578554	7578554	+	Splice_Site	SNP	A	A	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr17:7578554A>C	ENST00000269305.4	-	5	565	c.376T>G	c.(376-378)Tac>Gac	p.Y126D	TP53_ENST00000359597.4_Splice_Site_p.Y126D|TP53_ENST00000420246.2_Splice_Site_p.Y126D|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Splice_Site_p.Y126D|TP53_ENST00000445888.2_Splice_Site_p.Y126D|TP53_ENST00000455263.2_Splice_Site_p.Y126D	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	126	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y126D(9)|p.0?(8)|p.Y126N(6)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.Y33D(2)|p.V73fs*9(1)|p.?(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)|p.Y126fs*18(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)	GCAGGGGAGTACTGTAGGAAG	0.557		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"""	40	Substitution - Missense(17)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(4)|Insertion - In frame(1)|Unknown(1)	central_nervous_system(6)|haematopoietic_and_lymphoid_tissue(6)|upper_aerodigestive_tract(4)|large_intestine(4)|lung(4)|prostate(4)|bone(4)|breast(3)|ovary(2)|stomach(1)|liver(1)|oesophagus(1)	GRCh37	CI004819	TP53	I							42.0	43.0	43.0					17																	7578554		2203	4300	6503	SO:0001630	splice_region_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.376-1T>G	17.37:g.7578554A>C			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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.443641	0.83993	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99869	0.9938	M	0.90483	3.12	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.999;1.0;0.971;1.0;1.0;1.0	D	0.96375	0.9277	10	0.87932	D	0	-28.2517	13.8301	0.63375	1.0:0.0:0.0:0.0	.	87;126;126;33;126;126;126	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	D	126;126;126;126;126;126;115;33;33;126;126	ENSP00000410739:Y126D;ENSP00000352610:Y126D;ENSP00000269305:Y126D;ENSP00000398846:Y126D;ENSP00000391127:Y126D;ENSP00000391478:Y126D;ENSP00000423862:Y33D;ENSP00000424104:Y126D;ENSP00000426252:Y126D	ENSP00000269305:Y126D	Y	-	1	0	TP53	7519279	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.240000	0.95396	2.206000	0.71126	0.533000	0.62120	TAC		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Missense_Mutation	8	16	8	16
DNAH2	146754	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7662866	7662866	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr17:7662866C>T	ENST00000572933.1	+	16	4035	c.2575C>T	c.(2575-2577)Cca>Tca	p.P859S	DNAH2_ENST00000389173.2_Missense_Mutation_p.P859S			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	859	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AAAGACCAGCCCAAACCCACT	0.502																																																0													124.0	114.0	118.0					17																	7662866		2203	4300	6503	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.2575C>T	17.37:g.7662866C>T	ENSP00000458355:p.Pro859Ser		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.080712	0.55753	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.21543	2.0	5.8	5.8	0.92144	.	0.231018	0.36374	N	0.002640	T	0.24431	0.0592	M	0.73962	2.25	0.80722	D	1	P	0.39376	0.67	B	0.37692	0.256	T	0.04796	-1.0926	10	0.08381	T	0.77	.	14.4363	0.67282	0.0:0.8524:0.1475:0.0	.	859	Q9P225	DYH2_HUMAN	S	859	ENSP00000373825:P859S	ENSP00000353818:P859S	P	+	1	0	DNAH2	7603591	0.986000	0.35501	0.853000	0.33588	0.957000	0.61999	3.753000	0.55180	2.745000	0.94114	0.491000	0.48974	CCA		0.502	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		26	39	26	39
DNAH9	1770	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	11827172	11827172	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr17:11827172A>G	ENST00000262442.4	+	62	11859	c.11791A>G	c.(11791-11793)Aac>Gac	p.N3931D	DNAH9_ENST00000608377.1_Missense_Mutation_p.N243D|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.N3931D	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3931	AAA 6. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAACTTTCACAACGTGTCTTT	0.458																																																0													155.0	127.0	136.0					17																	11827172		2203	4300	6503	SO:0001583	missense	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.11791A>G	17.37:g.11827172A>G	ENSP00000262442:p.Asn3931Asp		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.960316	0.92791	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001;ENST00000361801	T;T;T	0.09255	3.0;3.0;3.0	4.98	4.98	0.66077	Dynein heavy chain (1);	0.198002	0.32106	N	0.006574	T	0.38268	0.1034	M	0.87900	2.915	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.75484	0.981;0.986	T	0.42172	-0.9467	10	0.72032	D	0.01	.	14.8283	0.70130	1.0:0.0:0.0:0.0	.	284;3931	B7Z7H0;Q9NYC9	.;DYH9_HUMAN	D	3931;3931;2513;243;284	ENSP00000262442:N3931D;ENSP00000414874:N3931D;ENSP00000379323:N243D	ENSP00000262442:N3931D	N	+	1	0	DNAH9	11767897	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.066000	0.93949	2.093000	0.63338	0.459000	0.35465	AAC		0.458	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		11	60	11	60
LDLRAD4	753	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	18	13645353	13645353	+	Silent	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr18:13645353G>A	ENST00000359446.5	+	6	1086	c.618G>A	c.(616-618)agG>agA	p.R206R	LDLRAD4_ENST00000361205.4_Silent_p.R206R|LDLRAD4_ENST00000399848.3_Silent_p.R188R|LDLRAD4_ENST00000587757.1_Silent_p.R169R|LDLRAD4_ENST00000592991.1_Silent_p.R108R|LDLRAD4_ENST00000585931.1_Silent_p.R129R|LDLRAD4_ENST00000586765.1_Silent_p.R151R|RP11-701H16.4_ENST00000588397.1_RNA	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	206					negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)										AGTCCGTGAGGGCCCCACCCA	0.582																																																0													79.0	87.0	84.0					18																	13645353		2203	4300	6503	SO:0001819	synonymous_variant	753			AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"""clone 22"""	606571	"""chromosome 18 open reading frame 1"""	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.618G>A	18.37:g.13645353G>A			B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Silent	SNP	ENST00000359446.5	37	CCDS32793.1																																																																																				0.582	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458326.1	NM_181481		8	80	8	80
C3	718	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	6678249	6678249	+	Silent	SNP	G	G	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr19:6678249G>T	ENST00000245907.6	-	40	4856	c.4764C>A	c.(4762-4764)atC>atA	p.I1588I	C3_ENST00000599668.1_5'UTR	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1588	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CTCTGCACTTGATGGGGCTGA	0.587																																																0													86.0	67.0	73.0					19																	6678249		2203	4300	6503	SO:0001819	synonymous_variant	718			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.4764C>A	19.37:g.6678249G>T			A7E236	Silent	SNP	ENST00000245907.6	37	CCDS32883.1																																																																																				0.587	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		7	31	7	31
MUC16	94025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	9070400	9070400	+	Silent	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr19:9070400G>A	ENST00000397910.4	-	3	17249	c.17046C>T	c.(17044-17046)ccC>ccT	p.P5682P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5684	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P5682P(2)|p.P1315P(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AACTCGTTACGGGCTCTGGGC	0.512																																																3	Substitution - coding silent(3)	endometrium(3)											146.0	140.0	142.0					19																	9070400		2007	4173	6180	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.17046C>T	19.37:g.9070400G>A			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		18	27	18	27
SLC17A7	57030	hgsc.bcm.edu;broad.mit.edu	37	19	49933968	49933968	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr19:49933968C>G	ENST00000221485.3	-	12	1662	c.1491G>C	c.(1489-1491)tgG>tgC	p.W497C	SLC17A7_ENST00000543531.1_Missense_Mutation_p.W485C|SLC17A7_ENST00000600601.1_Missense_Mutation_p.W430C	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	497					glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CAGGCTCTGCCCACGGCTGCT	0.587																																																0													71.0	62.0	65.0					19																	49933968		2203	4300	6503	SO:0001583	missense	57030			AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"""Solute carriers"""	16704	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 1"""	605208	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"""			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.1491G>C	19.37:g.49933968C>G	ENSP00000221485:p.Trp497Cys		B4DFR9|B4DG46|Q6PCD0	Missense_Mutation	SNP	ENST00000221485.3	37	CCDS12764.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969392	0.74246	.	.	ENSG00000104888	ENST00000221485;ENST00000543531	T;T	0.59083	0.29;0.29	4.68	4.68	0.58851	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.64402	D	0.000020	T	0.80053	0.4553	M	0.89968	3.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.84339	0.0526	10	0.87932	D	0	.	15.4824	0.75537	0.0:1.0:0.0:0.0	.	497;339	Q9P2U7;A8K0Q7	VGLU1_HUMAN;.	C	497;485	ENSP00000221485:W497C;ENSP00000441767:W485C	ENSP00000221485:W497C	W	-	3	0	SLC17A7	54625780	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.536000	0.82023	2.614000	0.88457	0.585000	0.79938	TGG		0.587	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465367.2			4	57	4	57
ZMPSTE24	10269	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	40758165	40758165	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:40758165G>A	ENST00000372759.3	+	10	1417	c.1252G>A	c.(1252-1254)Gct>Act	p.A418T		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	418					CAAX-box protein processing (GO:0071586)|nuclear envelope organization (GO:0006998)|prenylated protein catabolic process (GO:0030327)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metalloexopeptidase activity (GO:0008235)			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TGAGTTTCAAGCTGATGCATT	0.388																																																0													108.0	115.0	113.0					1																	40758165		2203	4300	6503	SO:0001583	missense	10269			Y13834	CCDS449.1	1p34	2014-09-17	2012-12-10		ENSG00000084073	ENSG00000084073	3.4.24.84		12877	protein-coding gene	gene with protein product	"""Hutchinson-Gilford progeria syndrome"", ""CAAX prenyl protease 1 homolog"""	606480	"""zinc metalloproteinase (STE24 homolog, yeast)"", ""zinc metallopeptidase (STE24 homolog, yeast)"", ""zinc metallopeptidase STE24 homolog (S. cerevisiae)"""			10373325, 9700155, 16671095	Standard	NM_005857		Approved	FACE-1, Ste24p, STE24, HGPS, PRO1	uc001cfg.4	O75844	OTTHUMG00000005762	ENST00000372759.3:c.1252G>A	1.37:g.40758165G>A	ENSP00000361845:p.Ala418Thr		B3KQI7|D3DPU7|Q8NDZ8|Q9UBQ2	Missense_Mutation	SNP	ENST00000372759.3	37	CCDS449.1	.	.	.	.	.	.	.	.	.	.	G	33	5.233047	0.95207	.	.	ENSG00000084073	ENST00000372759	D	0.89485	-2.52	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.96278	0.8786	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97360	0.9969	10	0.87932	D	0	-23.5882	18.79	0.91969	0.0:0.0:1.0:0.0	.	418	O75844	FACE1_HUMAN	T	418	ENSP00000361845:A418T	ENSP00000361845:A418T	A	+	1	0	ZMPSTE24	40530752	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.388000	0.97237	2.442000	0.82660	0.467000	0.42956	GCT		0.388	ZMPSTE24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015766.1			23	127	23	127
MAST2	23139	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	46474027	46474027	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:46474027A>G	ENST00000361297.2	+	9	1245	c.962A>G	c.(961-963)aAa>aGa	p.K321R	MAST2_ENST00000372009.2_Missense_Mutation_p.K321R	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CATGTTTACAAAGAAAGATTC	0.433																																																0													65.0	59.0	61.0					1																	46474027		1831	4083	5914	SO:0001583	missense	23139			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.962A>G	1.37:g.46474027A>G	ENSP00000354671:p.Lys321Arg			Missense_Mutation	SNP	ENST00000361297.2	37	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.421410	0.83559	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000432341;ENST00000372008	T;T;T	0.34072	1.38;1.38;1.38	4.98	4.98	0.66077	Microtubule-associated serine/threonine-protein kinase, domain (1);	0.000000	0.85682	D	0.000000	T	0.51346	0.1669	L	0.42487	1.325	0.23624	N	0.997267	B;D;B;D;P	0.76494	0.092;0.974;0.092;0.999;0.815	B;D;B;D;P	0.83275	0.162;0.953;0.162;0.996;0.631	T	0.44375	-0.9332	10	0.40728	T	0.16	-13.0508	14.6657	0.68907	1.0:0.0:0.0:0.0	.	29;321;29;321;321	B3KU51;Q6P0Q8-2;E7EWL1;E7ERL6;Q6P0Q8	.;.;.;.;MAST2_HUMAN	R	321;321;29;206	ENSP00000354671:K321R;ENSP00000361079:K321R;ENSP00000361078:K206R	ENSP00000354671:K321R	K	+	2	0	MAST2	46246614	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.265000	0.95647	1.847000	0.53656	0.459000	0.35465	AAA		0.433	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		8	36	8	36
LMX1A	4009	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	165183011	165183011	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:165183011T>C	ENST00000342310.3	-	5	918	c.536A>G	c.(535-537)cAt>cGt	p.H179R	LMX1A_ENST00000489443.2_5'Flank|LMX1A_ENST00000367893.4_Missense_Mutation_p.H179R|RP11-38C18.2_ENST00000457106.1_RNA|RP11-38C18.3_ENST00000441773.1_RNA|LMX1A_ENST00000294816.2_Missense_Mutation_p.H179R	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	179					axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CCCTGCCCCATGGGCTGACTT	0.498																																																0													192.0	177.0	182.0					1																	165183011		2203	4300	6503	SO:0001583	missense	4009			AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"""Homeoboxes / LIM class"""	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.536A>G	1.37:g.165183011T>C	ENSP00000340226:p.His179Arg		B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	Missense_Mutation	SNP	ENST00000342310.3	37	CCDS1247.1	.	.	.	.	.	.	.	.	.	.	T	9.754	1.168368	0.21621	.	.	ENSG00000162761	ENST00000342310;ENST00000294816;ENST00000367893	D;D;D	0.86497	-2.13;-2.13;-2.13	5.64	4.45	0.53987	Homeodomain-related (1);Homeodomain-like (1);	0.450771	0.25148	N	0.032768	T	0.56601	0.1996	N	0.08118	0	0.31077	N	0.712343	B	0.02656	0.0	B	0.04013	0.001	T	0.47923	-0.9079	9	0.14252	T	0.57	.	10.8972	0.47029	0.0:0.0:0.2464:0.7536	.	179	Q8TE12	LMX1A_HUMAN	R	179	ENSP00000340226:H179R;ENSP00000294816:H179R;ENSP00000356868:H179R	ENSP00000294816:H179R	H	-	2	0	LMX1A	163449635	0.995000	0.38212	0.929000	0.37066	0.978000	0.69477	2.430000	0.44766	2.131000	0.65755	0.528000	0.53228	CAT		0.498	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2	NM_177398		96	105	96	105
HMCN1	83872	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	185951454	185951454	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:185951454C>T	ENST00000271588.4	+	18	2952	c.2723C>T	c.(2722-2724)aCt>aTt	p.T908I	HMCN1_ENST00000367492.2_Missense_Mutation_p.T908I|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	908	Ig-like C2-type 6.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGCAGCTTACTTTGCCCTGT	0.418																																																0													175.0	166.0	169.0					1																	185951454		2203	4300	6503	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.2723C>T	1.37:g.185951454C>T	ENSP00000271588:p.Thr908Ile		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.085621	0.76642	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.44083	0.93;0.93	4.79	4.79	0.61399	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.51907	0.1702	L	0.37697	1.125	0.80722	D	1	P;P	0.50066	0.871;0.931	P;P	0.61940	0.896;0.664	T	0.40496	-0.9560	10	0.22109	T	0.4	.	17.8111	0.88616	0.0:1.0:0.0:0.0	.	292;908	Q96RW7-3;Q96RW7	.;HMCN1_HUMAN	I	908	ENSP00000271588:T908I;ENSP00000356462:T908I	ENSP00000271588:T908I	T	+	2	0	HMCN1	184218077	1.000000	0.71417	0.954000	0.39281	0.874000	0.50279	5.294000	0.65687	2.203000	0.70933	0.585000	0.79938	ACT		0.418	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		36	115	36	115
AURKA	6790	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	54956513	54956513	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr20:54956513C>A	ENST00000347343.2	-	6	948	c.681G>T	c.(679-681)aaG>aaT	p.K227N	AURKA_ENST00000395907.1_Missense_Mutation_p.K227N|AURKA_ENST00000395915.3_Missense_Mutation_p.K227N|AURKA_ENST00000395909.4_Missense_Mutation_p.K227N|AURKA_ENST00000395913.3_Missense_Mutation_p.K227N|AURKA_ENST00000395911.1_Missense_Mutation_p.K227N|AURKA_ENST00000312783.6_Missense_Mutation_p.K227N|AURKA_ENST00000371356.2_Missense_Mutation_p.K227N|AURKA_ENST00000395914.1_Missense_Mutation_p.K227N	NM_003600.2	NP_003591.2	O14965	AURKA_HUMAN	aurora kinase A	227	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|anterior/posterior axis specification (GO:0009948)|centrosome localization (GO:0051642)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|negative regulation of spindle checkpoint (GO:0090233)|neuron projection extension (GO:1990138)|positive regulation of mitosis (GO:0045840)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein autophosphorylation (GO:0046777)|protein localization to centrosome (GO:0071539)|protein phosphorylation (GO:0006468)|regulation of centrosome cycle (GO:0046605)|regulation of protein stability (GO:0031647)|spindle assembly involved in female meiosis I (GO:0007057)|spindle stabilization (GO:0043146)	axon hillock (GO:0043203)|centrosome (GO:0005813)|cytosol (GO:0005829)|germinal vesicle (GO:0042585)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			GCTCATCAAACTTTGAAAGTT	0.373																																					Melanoma(34;439 1292 51416 52695)|GBM(144;1525 2517 48902 51835)|Esophageal Squamous(191;569 2880 14195 30540)											0													120.0	116.0	117.0					20																	54956513		2203	4300	6503	SO:0001583	missense	6790			BC001280	CCDS13451.1	20q13	2012-07-23	2003-07-21	2003-07-23	ENSG00000087586	ENSG00000087586		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	11393	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 47"", ""Aurora-A kinase"""	603072	"""serine/threonine kinase 15"", "" serine/threonine kinase 6"""	STK15, STK6		9174055, 9771714	Standard	NM_003600		Approved	BTAK, AurA, STK7, ARK1, PPP1R47, AIK	uc002xxi.1	O14965	OTTHUMG00000032796	ENST00000347343.2:c.681G>T	20.37:g.54956513C>A	ENSP00000216911:p.Lys227Asn		E1P5F9|O60445|O75873|Q9BQD6|Q9UPG5	Missense_Mutation	SNP	ENST00000347343.2	37	CCDS13451.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.509284	0.44660	.	.	ENSG00000087586	ENST00000395909;ENST00000395914;ENST00000347343;ENST00000395915;ENST00000312783;ENST00000371356;ENST00000395913;ENST00000395911;ENST00000395907;ENST00000441357	T;T;T;T;T;T;T;T;T;T	0.08370	3.1;3.1;3.1;3.1;3.1;3.1;3.1;3.1;3.1;3.1	5.5	2.5	0.30297	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.391441	0.26467	N	0.024219	T	0.12987	0.0315	L	0.41356	1.27	0.43936	D	0.996599	B;D;B;B;P	0.56521	0.126;0.976;0.229;0.382;0.582	B;P;B;P;P	0.54856	0.241;0.762;0.241;0.495;0.495	T	0.01869	-1.1257	10	0.72032	D	0.01	-46.7358	9.2265	0.37410	0.0:0.6023:0.0:0.3977	.	227;159;227;227;227	Q5QPD4;B4DX16;A3KFJ0;B2R6Z3;O14965	.;.;.;.;AURKA_HUMAN	N	227	ENSP00000379245:K227N;ENSP00000379250:K227N;ENSP00000216911:K227N;ENSP00000379251:K227N;ENSP00000321591:K227N;ENSP00000360407:K227N;ENSP00000379249:K227N;ENSP00000379247:K227N;ENSP00000379243:K227N;ENSP00000393452:K227N	ENSP00000321591:K227N	K	-	3	2	AURKA	54389920	0.195000	0.23338	0.973000	0.42090	0.993000	0.82548	0.230000	0.17852	0.805000	0.34159	-0.142000	0.14014	AAG		0.373	AURKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079804.3	NM_003600		18	90	18	90
TPTE	7179	hgsc.bcm.edu;broad.mit.edu	37	21	10908895	10908895	+	Splice_Site	SNP	T	T	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr21:10908895T>C	ENST00000361285.4	-	23	1779	c.1450A>G	c.(1450-1452)Aat>Gat	p.N484D	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Splice_Site_p.N466D|TPTE_ENST00000342420.5_Splice_Site_p.N446D	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	484	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTAGGAAGATTCTAAAAAGAA	0.254																																																0													77.0	75.0	75.0					21																	10908895		2202	4295	6497	SO:0001630	splice_region_variant	7179			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1450-1A>G	21.37:g.10908895T>C			B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Splice_Site	SNP	ENST00000361285.4	37	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	0.743	-0.775511	0.02951	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.85088	-1.94;-1.94;-1.94	2.18	-0.746	0.11095	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.376195	0.26696	U	0.022979	T	0.75140	0.3809	L	0.47190	1.495	0.27551	N	0.950494	B;B;B	0.10296	0.002;0.002;0.003	B;B;B	0.18263	0.007;0.011;0.021	T	0.59841	-0.7378	10	0.29301	T	0.29	-0.4245	6.001	0.19521	0.0:0.3269:0.0:0.6731	.	446;466;484	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	D	466;484;446	ENSP00000298232:N466D;ENSP00000355208:N484D;ENSP00000344441:N446D	ENSP00000298232:N466D	N	-	1	0	TPTE	9930766	0.271000	0.24162	0.962000	0.40283	0.103000	0.19146	-0.281000	0.08456	-0.155000	0.11098	0.155000	0.16302	AAT		0.254	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		Missense_Mutation	4	38	4	38
IFNAR2	3455	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	21	34625023	34625023	+	Silent	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr21:34625023G>A	ENST00000342136.4	+	7	923	c.597G>A	c.(595-597)aaG>aaA	p.K199K	IFNAR2_ENST00000342101.3_Silent_p.K199K|IFNAR2_ENST00000404220.3_Silent_p.K199K|IFNAR2_ENST00000382264.3_Silent_p.K199K|AP000295.9_ENST00000433395.2_Missense_Mutation_p.S107N|IFNAR2_ENST00000382241.3_Silent_p.K199K|IFNAR2_ENST00000413881.1_Silent_p.K127K			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	199					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|type I interferon binding (GO:0019962)|type I interferon receptor activity (GO:0004905)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					"""""""Interferon Alfa-2a(DB00034)|""""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"""	TCATTGACAAGTTAATTCCAA	0.353																																																0													101.0	91.0	94.0					21																	34625023		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13621.1, CCDS13622.1, CCDS74782.1	21q22.1	2010-08-17			ENSG00000159110	ENSG00000159110		"""Interferons"""	5433	protein-coding gene	gene with protein product		602376		IFNABR		8181059	Standard	NM_207585		Approved		uc002yrd.3	P48551	OTTHUMG00000065127	ENST00000342136.4:c.597G>A	21.37:g.34625023G>A			A8KAJ4|D3DSE8|D3DSE9|Q15467|Q6FHD7	Missense_Mutation	SNP	ENST00000342136.4	37	CCDS13621.1	.	.	.	.	.	.	.	.	.	.	G	6.321	0.427372	0.11987	.	.	ENSG00000249624	ENST00000433395	.	.	.	4.13	-0.107	0.13592	.	.	.	.	.	T	0.21145	0.0509	.	.	.	0.19300	N	0.99997	.	.	.	.	.	.	T	0.24012	-1.0172	4	.	.	.	.	2.3709	0.04331	0.1023:0.312:0.3584:0.2272	.	.	.	.	N	107	.	.	S	+	2	0	AP000295.9	33546893	0.010000	0.17322	0.036000	0.18154	0.926000	0.56050	-0.313000	0.08103	-0.035000	0.13691	-0.304000	0.09214	AGT		0.353	IFNAR2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139825.1			30	31	30	31
KRTAP12-2	353323	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	21	46086744	46086744	+	Silent	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr21:46086744G>A	ENST00000360770.3	-	1	100	c.60C>T	c.(58-60)tgC>tgT	p.C20C	TSPEAR_ENST00000323084.4_Intron	NM_181684.2	NP_859012.1	P59991	KR122_HUMAN	keratin associated protein 12-2	20	23 X 5 AA approximate repeats.					keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(1)|lung(3)	5						AGGCTGGCTGGCAGGGGCTGG	0.667																																																0													25.0	31.0	29.0					21																	46086744		2152	4250	6402	SO:0001819	synonymous_variant	353323			AJ566389	CCDS42965.1	21q22.3	2006-03-13			ENSG00000221864	ENSG00000221864		"""Keratin associated proteins"""	20530	protein-coding gene	gene with protein product							Standard	NM_181684		Approved	KRTAP12.2, KAP12.2	uc002zfu.3	P59991	OTTHUMG00000057636	ENST00000360770.3:c.60C>T	21.37:g.46086744G>A			A6NIS1|A6NMS9|Q0VAS4	Silent	SNP	ENST00000360770.3	37	CCDS42965.1																																																																																				0.667	KRTAP12-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128039.1	NM_181684		14	12	14	12
SCN7A	6332	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	167298214	167298214	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr2:167298214T>C	ENST00000409855.1	-	14	1975	c.1849A>G	c.(1849-1851)Atg>Gtg	p.M617V		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	617					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	AGAGACCACATCAAAATCTGG	0.383																																																0													107.0	106.0	106.0					2																	167298214		2028	4231	6259	SO:0001583	missense	6332			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.1849A>G	2.37:g.167298214T>C	ENSP00000386796:p.Met617Val			Missense_Mutation	SNP	ENST00000409855.1	37	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	T	11.23	1.577310	0.28092	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992	D;D	0.97791	-4.54;-4.54	4.78	2.35	0.29111	Ion transport (1);	0.347158	0.28268	N	0.015970	D	0.92254	0.7543	N	0.12920	0.275	0.30241	N	0.795039	B	0.06786	0.001	B	0.08055	0.003	D	0.87504	0.2435	10	0.87932	D	0	.	6.2309	0.20734	0.0:0.087:0.1616:0.7515	.	617	Q01118	SCN7A_HUMAN	V	617	ENSP00000386796:M617V;ENSP00000413699:M617V	ENSP00000259060:M617V	M	-	1	0	SCN7A	167006460	0.995000	0.38212	0.045000	0.18777	0.011000	0.07611	2.167000	0.42415	0.403000	0.25479	0.477000	0.44152	ATG		0.383	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			16	38	16	38
COL3A1	1281	hgsc.bcm.edu;broad.mit.edu	37	2	189867065	189867065	+	Silent	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr2:189867065C>T	ENST00000304636.3	+	35	2603	c.2433C>T	c.(2431-2433)ttC>ttT	p.F811F	COL3A1_ENST00000317840.5_Silent_p.F811F	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	811	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	CTGCTGGTTTCCCTGGTGCTC	0.438																																																0													124.0	117.0	120.0					2																	189867065		2203	4300	6503	SO:0001819	synonymous_variant	1281			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.2433C>T	2.37:g.189867065C>T			D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Silent	SNP	ENST00000304636.3	37	CCDS2297.1																																																																																				0.438	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		5	43	5	43
NEU2	4759	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	233899633	233899633	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr2:233899633C>A	ENST00000233840.3	+	2	1009	c.1009C>A	c.(1009-1011)Ctc>Atc	p.L337I		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	337					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	CTACTCAGACCTCCAGAGCAT	0.607																																																0													105.0	114.0	111.0					2																	233899633		2203	4300	6503	SO:0001583	missense	4759			Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"""N-acetyl-alpha-neuraminidase 2"""	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.1009C>A	2.37:g.233899633C>A	ENSP00000233840:p.Leu337Ile		Q3KNW4|Q6NTB4	Missense_Mutation	SNP	ENST00000233840.3	37	CCDS2501.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.683415	0.68157	.	.	ENSG00000115488	ENST00000233840	D	0.87887	-2.31	4.94	3.1	0.35709	Neuraminidase (2);	0.000000	0.52532	D	0.000079	D	0.92107	0.7498	M	0.85710	2.77	0.40767	D	0.983058	D	0.61080	0.989	D	0.73708	0.981	D	0.89488	0.3755	10	0.32370	T	0.25	-27.1085	8.2369	0.31631	0.1562:0.76:0.0:0.0838	.	337	Q9Y3R4	NEUR2_HUMAN	I	337	ENSP00000233840:L337I	ENSP00000233840:L337I	L	+	1	0	NEU2	233607877	1.000000	0.71417	0.828000	0.32881	0.689000	0.40095	2.464000	0.45067	0.456000	0.26937	0.655000	0.94253	CTC		0.607	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257053.2	NM_005383		18	134	18	134
PPARG	5468	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	12458613	12458613	+	Silent	SNP	C	C	T	rs148844673		TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr3:12458613C>T	ENST00000287820.6	+	6	1351	c.1230C>T	c.(1228-1230)agC>agT	p.S410S	PPARG_ENST00000309576.6_Silent_p.S382S|PPARG_ENST00000397010.2_Silent_p.S382S|PPARG_ENST00000397015.2_Silent_p.S382S|PPARG_ENST00000539812.1_Intron|PPARG_ENST00000397000.1_Intron|PPARG_ENST00000397026.2_Silent_p.S388S|PPARG_ENST00000397012.2_Silent_p.S382S	NM_015869.4	NP_056953.2	P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	410	Ligand-binding.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|brown fat cell differentiation (GO:0050873)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|cellular response to lithium ion (GO:0071285)|epithelial cell differentiation (GO:0030855)|fatty acid oxidation (GO:0019395)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|innate immune response (GO:0045087)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|lipoprotein transport (GO:0042953)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle receptor biosynthetic process (GO:0045713)|monocyte differentiation (GO:0030224)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of cell growth (GO:0030308)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ regeneration (GO:0031100)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|placenta development (GO:0001890)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood pressure (GO:0008217)|regulation of cholesterol transporter activity (GO:0060694)|regulation of transcription involved in cell fate commitment (GO:0060850)|response to caffeine (GO:0031000)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to lipid (GO:0033993)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|arachidonic acid binding (GO:0050544)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|prostaglandin receptor activity (GO:0004955)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region DNA binding (GO:0001012)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Balsalazide(DB01014)|Bezafibrate(DB01393)|Glipizide(DB01067)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Mesalazine(DB00244)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rosiglitazone(DB00412)|Sulfasalazine(DB00795)|Telmisartan(DB00966)	TAGATGACAGCGACTTGGCAA	0.428			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						C|||	1	0.000199681	0.0	0.0	5008	,	,		19965	0.0		0.0	False		,,,				2504	0.001						Dom	yes		3	3p25	5468	"""peroxisome proliferative activated receptor, gamma"""	yes	E	0													39.0	40.0	40.0					3																	12458613		2203	4300	6503	SO:0001819	synonymous_variant	5468			X90563	CCDS2609.1, CCDS2610.2	3p25	2013-01-16	2006-10-17		ENSG00000132170	ENSG00000132170		"""Nuclear hormone receptors"""	9236	protein-coding gene	gene with protein product		601487	"""peroxisome proliferative activated receptor, gamma"""			7862171, 9750197	Standard	NM_005037		Approved	PPARG1, PPARG2, NR1C3, PPARgamma	uc003bwx.3	P37231	OTTHUMG00000129764	ENST00000287820.6:c.1230C>T	3.37:g.12458613C>T			A8K3G6|B5BUA1|O00684|O00710|O14515|Q0QJH8|Q15178|Q15179|Q15180|Q15832|Q86U60|Q96J12	Silent	SNP	ENST00000287820.6	37	CCDS2609.1																																																																																				0.428	PPARG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251979.2	NM_005037		7	50	7	50
TFRC	7037	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	195800987	195800987	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr3:195800987A>G	ENST00000360110.4	-	4	417	c.248T>C	c.(247-249)aTt>aCt	p.I83T	TFRC_ENST00000420415.1_Missense_Mutation_p.I2T|TFRC_ENST00000535031.1_Intron|RNU7-18P_ENST00000516365.1_RNA|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000392396.3_Missense_Mutation_p.I83T	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	83					cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	CAAGTAGCCAATCATAAATCC	0.423			T	BCL6	NHL																																		Dom	yes		3	3q29	7037	"""transferrin receptor (p90, CD71)"""		L	0													70.0	73.0	72.0					3																	195800987		2203	4300	6503	SO:0001583	missense	7037			X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"""CD molecules"""	11763	protein-coding gene	gene with protein product		190010	"""transferrin receptor (p90, CD71)"""				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.248T>C	3.37:g.195800987A>G	ENSP00000353224:p.Ile83Thr		D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Missense_Mutation	SNP	ENST00000360110.4	37	CCDS3312.1	.	.	.	.	.	.	.	.	.	.	A	13.62	2.290351	0.40494	.	.	ENSG00000072274	ENST00000360110;ENST00000420415;ENST00000392396	T;T;T	0.55052	0.54;0.67;0.54	5.35	4.17	0.49024	.	0.328436	0.33419	N	0.004927	T	0.48370	0.1496	M	0.71036	2.16	0.80722	D	1	B	0.29988	0.264	B	0.20577	0.03	T	0.48636	-0.9018	10	0.62326	D	0.03	-10.2726	9.5028	0.39028	0.8229:0.1771:0.0:0.0	.	83	P02786	TFR1_HUMAN	T	83;2;83	ENSP00000353224:I83T;ENSP00000390133:I2T;ENSP00000376197:I83T	ENSP00000353224:I83T	I	-	2	0	TFRC	197285384	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	3.518000	0.53451	0.834000	0.34852	0.482000	0.46254	ATT		0.423	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341346.1			11	49	11	49
GPR125	166647	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	22436987	22436987	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr4:22436987C>T	ENST00000334304.5	-	10	1659	c.1390G>A	c.(1390-1392)Gca>Aca	p.A464T	GPR125_ENST00000502482.1_Missense_Mutation_p.A464T|GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000508133.1_Missense_Mutation_p.A238T	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	464					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				ATCATTTCTGCCACAAATATA	0.393																																																0													81.0	81.0	81.0					4																	22436987		2203	4300	6503	SO:0001583	missense	166647			AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.1390G>A	4.37:g.22436987C>T	ENSP00000334952:p.Ala464Thr		Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	31	5.081468	0.94050	.	.	ENSG00000152990	ENST00000334304;ENST00000508133;ENST00000502482	T;T;T	0.51817	0.69;0.69;0.69	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.61837	0.2379	L	0.38175	1.15	0.80722	D	1	D;P;D;P	0.67145	0.985;0.938;0.996;0.456	D;P;D;B	0.79784	0.919;0.747;0.993;0.068	T	0.64236	-0.6455	10	0.72032	D	0.01	-44.5052	19.2098	0.93749	0.0:1.0:0.0:0.0	.	339;464;238;464	Q8IWK6-3;Q8IWK6-2;Q8IWK6-4;Q8IWK6	.;.;.;GP125_HUMAN	T	464;238;464	ENSP00000334952:A464T;ENSP00000422606:A238T;ENSP00000421006:A464T	ENSP00000334952:A464T	A	-	1	0	GPR125	22046085	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.440000	0.80464	2.528000	0.85240	0.563000	0.77884	GCA		0.393	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			11	49	11	49
C6orf222	389384	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	36290199	36290199	+	Missense_Mutation	SNP	G	G	A	rs372110549		TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr6:36290199G>A	ENST00000437635.2	-	9	1669	c.1492C>T	c.(1492-1494)Cgg>Tgg	p.R498W		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	498										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						AGGGGCTCCCGGCACTCGAGA	0.567																																																0								G	TRP/ARG	0,4406		0,0,2203	92.0	86.0	88.0		1492	3.9	0.0	6		88	1,8599	1.2+/-3.3	0,1,4299	no	missense	C6orf222	NM_001010903.4	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	498/653	36290199	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.1492C>T	6.37:g.36290199G>A	ENSP00000418983:p.Arg498Trp		B2RTY8	Missense_Mutation	SNP	ENST00000437635.2	37	CCDS34439.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.196598	0.38806	0.0	1.16E-4	ENSG00000189325	ENST00000437635	T	0.49720	0.77	3.9	3.9	0.45041	.	0.834796	0.10323	N	0.688480	T	0.27313	0.0670	N	0.22421	0.69	0.09310	N	1	D	0.63880	0.993	P	0.47705	0.555	T	0.10042	-1.0647	10	0.87932	D	0	-21.1908	11.7078	0.51607	0.0:0.0:1.0:0.0	.	498	P0C671	CF222_HUMAN	W	498	ENSP00000418983:R498W	ENSP00000418983:R498W	R	-	1	2	C6orf222	36398177	0.836000	0.29430	0.040000	0.18447	0.001000	0.01503	2.392000	0.44433	2.465000	0.83290	0.563000	0.77884	CGG		0.567	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2	NM_001010903		12	81	12	81
FILIP1	27145	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	76124523	76124523	+	Missense_Mutation	SNP	T	T	C	rs200076124		TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr6:76124523T>C	ENST00000237172.7	-	2	496	c.166A>G	c.(166-168)Aaa>Gaa	p.K56E	FILIP1_ENST00000393004.2_Missense_Mutation_p.K56E	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	56										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						AGGTGTCGTTTGACAGTTCCT	0.403																																																0								T	GLU/LYS	1,4405	2.1+/-5.4	0,1,2202	251.0	245.0	247.0		166	5.6	1.0	6		247	4,8596	3.7+/-12.6	0,4,4296	yes	missense	FILIP1	NM_015687.2	56	0,5,6498	CC,CT,TT		0.0465,0.0227,0.0384	benign	56/1214	76124523	5,13001	2203	4300	6503	SO:0001583	missense	27145			AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.166A>G	6.37:g.76124523T>C	ENSP00000237172:p.Lys56Glu		B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	T	14.45	2.540183	0.45176	2.27E-4	4.65E-4	ENSG00000118407	ENST00000393004;ENST00000237172	T;T	0.17854	2.25;2.25	5.55	5.55	0.83447	.	0.109696	0.64402	D	0.000008	T	0.04770	0.0129	L	0.34521	1.04	0.47245	D	0.999362	B;B;B	0.12013	0.002;0.003;0.005	B;B;B	0.08055	0.002;0.001;0.003	T	0.10520	-1.0626	10	0.02654	T	1	-26.8439	15.7041	0.77563	0.0:0.0:0.0:1.0	.	56;56;56	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	E	56	ENSP00000376728:K56E;ENSP00000237172:K56E	ENSP00000237172:K56E	K	-	1	0	FILIP1	76181243	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.902000	0.69869	2.099000	0.63709	0.528000	0.53228	AAA		0.403	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		108	150	108	150
ZNF292	23036	hgsc.bcm.edu;broad.mit.edu	37	6	87966561	87966561	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr6:87966561G>C	ENST00000369577.3	+	8	3257	c.3214G>C	c.(3214-3216)Gca>Cca	p.A1072P	ZNF292_ENST00000339907.4_Missense_Mutation_p.A1067P	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1072						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AGAAAGTATTGCATTTGTTCC	0.373																																																0													97.0	96.0	96.0					6																	87966561		1858	4085	5943	SO:0001583	missense	23036			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.3214G>C	6.37:g.87966561G>C	ENSP00000358590:p.Ala1072Pro		Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	G	9.254	1.041402	0.19669	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.08458	3.09;3.1	5.55	-3.17	0.05202	.	0.671285	0.14523	N	0.314349	T	0.01254	0.0041	N	0.22421	0.69	0.30042	N	0.81256	B	0.24721	0.11	B	0.24974	0.057	T	0.47156	-0.9139	10	0.25106	T	0.35	.	4.0424	0.09758	0.3651:0.1139:0.4102:0.1107	.	1072	O60281	ZN292_HUMAN	P	1072;1067	ENSP00000358590:A1072P;ENSP00000342847:A1067P	ENSP00000342847:A1067P	A	+	1	0	ZNF292	88023280	0.128000	0.22383	0.918000	0.36340	0.290000	0.27261	-0.227000	0.09126	-0.432000	0.07297	-0.469000	0.05056	GCA		0.373	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		6	84	6	84
FRK	2444	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	116381413	116381413	+	Missense_Mutation	SNP	G	G	A	rs377628003		TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr6:116381413G>A	ENST00000606080.1	-	1	508	c.62C>T	c.(61-63)aCg>aTg	p.T21M		NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	21					cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	GTCTGCCTCCGTGGACAAACA	0.537																																																0								G	MET/THR	0,4406		0,0,2203	109.0	101.0	104.0		62	-4.1	0.0	6		104	1,8599	1.2+/-3.3	0,1,4299	no	missense	FRK	NM_002031.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	21/506	116381413	1,13005	2203	4300	6503	SO:0001583	missense	2444			U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"""SH2 domain containing"""	3955	protein-coding gene	gene with protein product		606573	"""PTK5 protein tyrosine kinase 5"", ""fyn-related kinase"""	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.62C>T	6.37:g.116381413G>A	ENSP00000476145:p.Thr21Met		B4DY49|Q13128|Q9NTR5	Missense_Mutation	SNP	ENST00000606080.1	37	CCDS5103.1	.	.	.	.	.	.	.	.	.	.	G	3.486	-0.104936	0.06967	0.0	1.16E-4	ENSG00000111816	ENST00000368626	T	0.73789	-0.78	4.61	-4.12	0.03916	.	1.658490	0.03707	N	0.249518	T	0.23171	0.0560	N	0.08118	0	0.19300	N	0.999977	B	0.31077	0.307	B	0.16289	0.015	T	0.09552	-1.0669	10	0.46703	T	0.11	.	1.8247	0.03118	0.1243:0.3036:0.1382:0.4338	.	21	P42685	FRK_HUMAN	M	21	ENSP00000357615:T21M	ENSP00000357615:T21M	T	-	2	0	FRK	116488106	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.388000	0.02533	-0.867000	0.04063	-1.086000	0.02197	ACG		0.537	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2	NM_002031		13	125	13	125
WIPI2	26100	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	5270498	5270498	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr7:5270498G>A	ENST00000288828.4	+	13	1517	c.1285G>A	c.(1285-1287)Gcc>Acc	p.A429T	WIPI2_ENST00000401525.3_Missense_Mutation_p.A411T|WIPI2_ENST00000484262.1_Missense_Mutation_p.A359T|WIPI2_ENST00000382384.2_Missense_Mutation_p.A400T|WIPI2_ENST00000404704.3_Missense_Mutation_p.A418T	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	429					autophagic vacuole assembly (GO:0000045)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|protein complex (GO:0043234)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		TGTGGGTGGCGCCTGCCTGGA	0.612																																																0													61.0	55.0	57.0					7																	5270498		2203	4300	6503	SO:0001583	missense	26100				CCDS5339.1, CCDS34593.1, CCDS47531.1, CCDS47532.1, CCDS47533.1	7p22.1	2014-02-12			ENSG00000157954	ENSG00000157954		"""WD repeat domain containing"""	32225	protein-coding gene	gene with protein product		609225				15602573	Standard	NM_001278299		Approved	Atg21, CGI-50, FLJ12979, FLJ14217, FLJ42984, DKFZP434J154, DKFZp686P02188, ATG18B	uc003snv.3	Q9Y4P8	OTTHUMG00000121179	ENST00000288828.4:c.1285G>A	7.37:g.5270498G>A	ENSP00000288828:p.Ala429Thr		B3KNC2|Q5MNZ8|Q6FI96|Q75L50|Q96IE4|Q9Y364	Missense_Mutation	SNP	ENST00000288828.4	37	CCDS5339.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.757023	0.31137	.	.	ENSG00000157954	ENST00000288828;ENST00000401525;ENST00000404704;ENST00000382384;ENST00000484262;ENST00000315176	T;T;T;T;T	0.43688	1.24;1.25;1.25;1.26;0.94	5.78	-0.244	0.13031	.	0.109437	0.64402	N	0.000007	T	0.25901	0.0631	L	0.44542	1.39	0.24009	N	0.996185	B;B;B;B;B	0.33857	0.429;0.133;0.301;0.24;0.155	B;B;B;B;B	0.29440	0.039;0.026;0.102;0.102;0.047	T	0.10636	-1.0621	10	0.31617	T	0.26	-6.5803	5.3799	0.16186	0.3294:0.0:0.5466:0.124	.	412;400;411;418;429	E7EVF6;Q9Y4P8-2;Q9Y4P8-4;Q9Y4P8-6;Q9Y4P8	.;.;.;.;WIPI2_HUMAN	T	429;411;418;400;359;412	ENSP00000288828:A429T;ENSP00000384945:A411T;ENSP00000385297:A418T;ENSP00000371821:A400T;ENSP00000429654:A359T	ENSP00000288828:A429T	A	+	1	0	WIPI2	5237024	0.067000	0.21026	0.000000	0.03702	0.748000	0.42578	1.134000	0.31442	-0.351000	0.08249	-0.137000	0.14449	GCC		0.612	WIPI2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241669.2	NM_015610		11	38	11	38
RP1	6101	hgsc.bcm.edu;broad.mit.edu	37	8	55541622	55541622	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr8:55541622A>G	ENST00000220676.1	+	4	5328	c.5180A>G	c.(5179-5181)gAt>gGt	p.D1727G		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1727					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAACAAAATGATGATAGCAGA	0.393																																					Colon(91;1014 1389 7634 14542 40420)											0													126.0	122.0	123.0					8																	55541622		2203	4300	6503	SO:0001583	missense	6101			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.5180A>G	8.37:g.55541622A>G	ENSP00000220676:p.Asp1727Gly			Missense_Mutation	SNP	ENST00000220676.1	37	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	4.511	0.094819	0.08681	.	.	ENSG00000104237	ENST00000220676	T	0.21543	2.0	5.93	0.824	0.18818	.	0.703453	0.12849	N	0.434153	T	0.19406	0.0466	L	0.57536	1.79	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.23332	-1.0191	10	0.66056	D	0.02	-1.471	6.4187	0.21732	0.6142:0.1226:0.2632:0.0	.	1727	P56715	RP1_HUMAN	G	1727	ENSP00000220676:D1727G	ENSP00000220676:D1727G	D	+	2	0	RP1	55704175	.	.	0.000000	0.03702	0.131000	0.20780	.	.	0.122000	0.18314	0.533000	0.62120	GAT		0.393	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		6	77	6	77
XKR9	389668	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	71646325	71646325	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr8:71646325A>G	ENST00000408926.3	+	5	1322	c.788A>G	c.(787-789)tAt>tGt	p.Y263C	XKR9_ENST00000520030.1_Missense_Mutation_p.Y263C|XKR9_ENST00000520273.1_Intron	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	263						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			GAATTCTTATATAGGATTGTT	0.289																																																0													99.0	98.0	99.0					8																	71646325		2202	4298	6500	SO:0001583	missense	389668			AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947			20937	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 9"""				Standard	NM_001287258		Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.788A>G	8.37:g.71646325A>G	ENSP00000386141:p.Tyr263Cys		B2RNS9|B9EH74	Missense_Mutation	SNP	ENST00000408926.3	37	CCDS34905.1	.	.	.	.	.	.	.	.	.	.	A	15.68	2.905666	0.52333	.	.	ENSG00000221947	ENST00000408926;ENST00000520030	T;T	0.67698	-0.28;-0.28	4.99	4.99	0.66335	.	0.062606	0.64402	D	0.000003	D	0.82623	0.5077	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85706	0.1316	10	0.87932	D	0	-11.0758	14.8626	0.70392	1.0:0.0:0.0:0.0	.	263	Q5GH70	XKR9_HUMAN	C	263	ENSP00000386141:Y263C;ENSP00000431088:Y263C	ENSP00000386141:Y263C	Y	+	2	0	XKR9	71808879	1.000000	0.71417	0.702000	0.30337	0.493000	0.33554	5.152000	0.64882	2.100000	0.63781	0.460000	0.39030	TAT		0.289	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378752.1	NM_001011720		20	60	20	60
DMD	1756	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	32380909	32380909	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chrX:32380909C>T	ENST00000357033.4	-	37	5527	c.5321G>A	c.(5320-5322)gGa>gAa	p.G1774E	DMD_ENST00000378677.2_Missense_Mutation_p.G1770E	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1774	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCCTACCTTTCCAGTCTTAAT	0.483																																																0													172.0	135.0	148.0					X																	32380909		2202	4300	6502	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.5321G>A	X.37:g.32380909C>T	ENSP00000354923:p.Gly1774Glu		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.697644	0.48307	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.48522	0.81;0.81	5.36	4.49	0.54785	.	0.000000	0.34223	U	0.004157	T	0.30008	0.0751	L	0.38531	1.155	0.80722	D	1	B;B;B;B;B	0.24768	0.019;0.111;0.024;0.024;0.024	B;B;B;B;B	0.26094	0.015;0.066;0.025;0.017;0.017	T	0.11767	-1.0574	10	0.02654	T	1	.	6.768	0.23579	0.1524:0.6958:0.0:0.1518	.	1766;1774;1770;433;430	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	E	1766;433;430;1770;1774;1774;1651	ENSP00000367948:G1770E;ENSP00000354923:G1774E	ENSP00000354923:G1774E	G	-	2	0	DMD	32290830	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.000000	0.40816	2.218000	0.71995	0.544000	0.68410	GGA		0.483	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		16	27	16	27
MCF2	4168	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	138678852	138678852	+	Silent	SNP	T	T	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chrX:138678852T>C	ENST00000370576.4	-	19	2342	c.2133A>G	c.(2131-2133)acA>acG	p.T711T	MCF2_ENST00000536274.1_Silent_p.T672T|MCF2_ENST00000338585.6_Silent_p.T727T|MCF2_ENST00000519895.1_Silent_p.T787T|AL033403.1_ENST00000401295.2_RNA|MCF2_ENST00000520602.1_Silent_p.T771T|MCF2_ENST00000370573.4_Silent_p.T711T|MCF2_ENST00000370578.4_Silent_p.T856T|MCF2_ENST00000414978.1_Silent_p.T771T	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	711	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					CCTTCATTTTTGTAGCACCTT	0.398																																																0													197.0	165.0	176.0					X																	138678852		2203	4300	6503	SO:0001819	synonymous_variant	4168				CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.2133A>G	X.37:g.138678852T>C			B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Silent	SNP	ENST00000370576.4	37	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	T	8.437	0.849867	0.17034	.	.	ENSG00000101977	ENST00000437564	.	.	.	5.78	-7.23	0.01480	.	.	.	.	.	T	0.50034	0.1592	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.55749	-0.8092	4	.	.	.	.	9.5387	0.39237	0.0:0.1878:0.4212:0.391	.	.	.	.	E	215	.	.	K	-	1	0	MCF2	138506518	0.002000	0.14202	0.924000	0.36721	0.984000	0.73092	-2.107000	0.01337	-1.118000	0.02961	-0.335000	0.08231	AAA		0.398	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		30	52	30	52
ULK2	9706	broad.mit.edu;ucsc.edu	37	17	19720091	19720091	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr17:19720091A>C	ENST00000395544.4	-	13	1566	c.1067T>G	c.(1066-1068)gTg>gGg	p.V356G	ULK2_ENST00000580130.1_Intron|ULK2_ENST00000361658.2_Missense_Mutation_p.V356G	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	356					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GTTGTGTGGCACCAAAACAAA	0.398																																																0													123.0	112.0	116.0					17																	19720091		2203	4300	6503	SO:0001583	missense	9706			AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"""unc-51 (C. elegans)-like kinase 2"", ""unc-51-like kinase 2 (C. elegans)"""			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.1067T>G	17.37:g.19720091A>C	ENSP00000378914:p.Val356Gly		A8MY69|O75119	Missense_Mutation	SNP	ENST00000395544.4	37	CCDS11213.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.570267	0.86542	.	.	ENSG00000083290	ENST00000361658;ENST00000395544	T;T	0.79247	-1.25;-1.25	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.87337	0.6152	M	0.74881	2.28	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.88888	0.3344	10	0.87932	D	0	-12.7927	14.726	0.69343	1.0:0.0:0.0:0.0	.	356	Q8IYT8	ULK2_HUMAN	G	356	ENSP00000354877:V356G;ENSP00000378914:V356G	ENSP00000354877:V356G	V	-	2	0	ULK2	19660683	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.701000	0.91331	2.047000	0.60756	0.455000	0.32223	GTG		0.398	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132375.2	NM_014683		39	47	39	47
THSD7B	80731	broad.mit.edu;ucsc.edu	37	2	138320879	138320879	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr2:138320879T>A	ENST00000409968.1	+	16	3405	c.3227T>A	c.(3226-3228)cTg>cAg	p.L1076Q	THSD7B_ENST00000272643.3_Missense_Mutation_p.L1079Q|THSD7B_ENST00000413152.2_Missense_Mutation_p.L1048Q|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1078	TSP type-1 13. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AACAATGAGCTGAGGTCCCTG	0.443																																																0													106.0	100.0	102.0					2																	138320879		1971	4153	6124	SO:0001583	missense	80731					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.3227T>A	2.37:g.138320879T>A	ENSP00000387145:p.Leu1076Gln			Missense_Mutation	SNP	ENST00000409968.1	37		.	.	.	.	.	.	.	.	.	.	T	11.32	1.604347	0.28534	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.21932	2.49;2.37;1.98	5.41	4.25	0.50352	.	0.272156	0.36234	N	0.002718	T	0.07369	0.0186	N	0.03608	-0.345	0.80722	D	1	B	0.11235	0.004	B	0.16722	0.016	T	0.28202	-1.0051	10	0.13470	T	0.59	.	4.7863	0.13227	0.2864:0.0865:0.0:0.6271	.	1048	C9JKN6	.	Q	1076;1079;1048	ENSP00000387145:L1076Q;ENSP00000272643:L1079Q;ENSP00000413841:L1048Q	ENSP00000272643:L1079Q	L	+	2	0	THSD7B	138037349	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.208000	0.51114	2.190000	0.69967	0.477000	0.44152	CTG		0.443	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		4	34	4	34
SLC22A2	6582	broad.mit.edu;ucsc.edu	37	6	160679569	160679569	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr6:160679569G>A	ENST00000366953.3	-	1	479	c.221C>T	c.(220-222)aCg>aTg	p.T74M	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366952.1_Missense_Mutation_p.T53M	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	74					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	GCCCGGCACCGTGTAGTTCAG	0.672																																																0													52.0	56.0	55.0					6																	160679569		2203	4300	6503	SO:0001583	missense	6582			X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"""Solute carriers"""	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.221C>T	6.37:g.160679569G>A	ENSP00000355920:p.Thr74Met		Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Missense_Mutation	SNP	ENST00000366953.3	37	CCDS5276.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.356644	0.82243	.	.	ENSG00000112499	ENST00000366953;ENST00000366952	T;T	0.74209	-0.82;-0.79	5.22	5.22	0.72569	Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.88793	0.6533	M	0.92738	3.34	0.52099	D	0.999942	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.90678	0.4603	10	0.72032	D	0.01	.	18.9747	0.92731	0.0:0.0:1.0:0.0	.	74;74;74	O15244-3;O15244;O15244-2	.;S22A2_HUMAN;.	M	74;53	ENSP00000355920:T74M;ENSP00000355919:T53M	ENSP00000355919:T53M	T	-	2	0	SLC22A2	160599559	1.000000	0.71417	1.000000	0.80357	0.524000	0.34500	6.874000	0.75546	2.701000	0.92244	0.557000	0.71058	ACG		0.672	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	NM_003058		7	47	7	47
ZNF280A	129025	broad.mit.edu;ucsc.edu	37	22	22869695	22869695	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr22:22869695G>A	ENST00000302097.3	-	2	512	c.260C>T	c.(259-261)tCg>tTg	p.S87L	snoU13_ENST00000459485.1_RNA	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	87					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TGCAGGCTGCGACACGTGAGC	0.468																																																0													203.0	167.0	179.0					22																	22869695		2203	4300	6503	SO:0001583	missense	129025			D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"""zinc finger protein 280"", ""suppressor of hairy wing homolog 1 (Drosophila)"""	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.260C>T	22.37:g.22869695G>A	ENSP00000302855:p.Ser87Leu			Missense_Mutation	SNP	ENST00000302097.3	37	CCDS13800.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.149631	0.00328	.	.	ENSG00000169548	ENST00000302097	T	0.36340	1.26	3.8	-7.59	0.01308	.	.	.	.	.	T	0.11367	0.0277	N	0.03324	-0.35	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.10800	-1.0614	9	0.17832	T	0.49	1.8036	4.54	0.12052	0.1277:0.2566:0.5314:0.0843	.	87	P59817	Z280A_HUMAN	L	87	ENSP00000302855:S87L	ENSP00000302855:S87L	S	-	2	0	ZNF280A	21199695	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.613000	0.05610	-3.985000	0.00084	-3.816000	0.00019	TCG		0.468	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740		23	94	23	94
HCRTR2	3062	broad.mit.edu;hgsc.bcm.edu	37	6	55147128	55147128	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr6:55147128delG	ENST00000370862.3	+	7	1547	c.1211delG	c.(1210-1212)cggfs	p.R404fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	404					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACAGAGAGCCGGAAGTCCTTG	0.483																																																0													90.0	79.0	83.0					6																	55147128		2203	4300	6503	SO:0001589	frameshift_variant	3062			AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.1211delG	6.37:g.55147128delG	ENSP00000359899:p.Arg404fs		Q5VTM0	Frame_Shift_Del	DEL	ENST00000370862.3	37	CCDS4956.1																																																																																				0.483	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			12	23	12	23
TP53	7157	broad.mit.edu;hgsc.bcm.edu	37	17	7577081	7577099	+	Frame_Shift_Del	DEL	TCCTCTGTGCGCCGGTCTC	TCCTCTGTGCGCCGGTCTC	-	rs149633775|rs121912667|rs371409680|rs121912660|rs28934574|rs112431538|rs587781525	byFrequency	TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr17:7577081_7577099delTCCTCTGTGCGCCGGTCTC	ENST00000269305.4	-	8	1028_1046	c.839_857delGAGACCGGCGCACAGAGGA	c.(838-858)agagaccggcgcacagaggaafs	p.RDRRTEE280fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.RDRRTEE280fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.RDRRTEE280fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.RDRRTEE280fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.RDRRTEE280fs	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	280	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1631151}.		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.R282W(401)|p.E285K(111)|p.R280T(65)|p.E286K(58)|p.R280K(49)|p.R282G(29)|p.D281E(28)|p.R283P(27)|p.R282Q(27)|p.D281N(25)|p.E285*(24)|p.E286*(22)|p.D281H(19)|p.E286G(18)|p.R283C(17)|p.R282P(17)|p.R280I(16)|p.D281Y(16)|p.E285V(15)|p.R280S(15)|p.R283H(13)|p.R282R(10)|p.D281G(10)|p.E286V(9)|p.T284P(9)|p.0?(8)|p.E285G(5)|p.E286Q(5)|p.D281V(5)|p.D281D(5)|p.E285Q(4)|p.R283R(4)|p.R283L(4)|p.R282fs*24(4)|p.R283fs*62(4)|p.E285E(3)|p.T284T(3)|p.R282L(3)|p.R282H(3)|p.R280R(3)|p.T284A(3)|p.R283G(2)|p.E285A(2)|p.D281fs*63(2)|p.E286fs*59(2)|p.D281_R282>EW(2)|p.R283fs*23(2)|p.D281A(2)|p.T284fs*21(2)|p.D281>AGPY(2)|p.R280_D281delRD(2)|p.R283fs*16(2)|p.E286fs*17(2)|p.T284fs*61(2)|p.T284fs*62(2)|p.R283fs*63(2)|p.?(2)|p.R283S(1)|p.G279fs*59(1)|p.D281_R282insXX(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.R283fs*56(1)|p.E286A(1)|p.R283fs*59(1)|p.C275fs*20(1)|p.E285_N288delEEEN(1)|p.R283del(1)|p.R283fs*22(1)|p.V272_K292del21(1)|p.D281R(1)|p.E285fs*60(1)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.T284_G293del10(1)|p.D281fs*24(1)|p.E285fs*13(1)|p.T284I(1)|p.L265_K305del41(1)|p.R283_T284>T(1)|p.R282fs*63(1)|p.A276fs*64(1)|p.E285_L289delEEENL(1)|p.R282_E287delRRTEEE(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.T284fs*57(1)|p.D281_R282delDR(1)|p.E285fs*20(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)	GAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACA	0.553		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"""	1180	Substitution - Missense(1036)|Substitution - Nonsense(46)|Deletion - Frameshift(28)|Substitution - coding silent(28)|Deletion - In frame(14)|Insertion - Frameshift(10)|Whole gene deletion(8)|Unknown(2)|Complex - frameshift(2)|Complex - insertion inframe(2)|Complex - compound substitution(2)|Complex - deletion inframe(1)|Insertion - In frame(1)	large_intestine(188)|urinary_tract(159)|lung(138)|breast(101)|upper_aerodigestive_tract(99)|oesophagus(82)|haematopoietic_and_lymphoid_tissue(63)|ovary(55)|stomach(52)|skin(48)|central_nervous_system(48)|liver(41)|pancreas(18)|biliary_tract(16)|prostate(13)|soft_tissue(10)|bone(10)|endometrium(8)|vulva(7)|thyroid(4)|peritoneum(3)|autonomic_ganglia(3)|kidney(2)|eye(2)|NS(2)|adrenal_gland(2)|salivary_gland(2)|cervix(1)|genital_tract(1)|vagina(1)|small_intestine(1)	GRCh37	CD003107|CM004343|CM004344|CM021154|CM041458|CM056068|CM056413|CM076566|CM076567|CM083790|CM920678|CM920679|CM993218|CM995136	TP53	D|M	rs112431538|rs121912660|rs121912667|rs149633775|rs28934574																																			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.839_857delGAGACCGGCGCACAGAGGA	17.37:g.7577081_7577099delTCCTCTGTGCGCCGGTCTC	ENSP00000269305:p.Arg280fs		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																																																																																				0.553	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		15	48	15	48
ATRX	546	broad.mit.edu;hgsc.bcm.edu	37	X	76939864	76939864	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chrX:76939864delT	ENST00000373344.5	-	9	1098	c.884delA	c.(883-885)aagfs	p.K297fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K259fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	297					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TATCTTCTTCTTATTTTGCTG	0.348			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											131.0	122.0	125.0					X																	76939864		2203	4294	6497	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.884delA	X.37:g.76939864delT	ENSP00000362441:p.Lys297fs		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	CCDS14434.1																																																																																				0.348	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		85	11	85	11
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	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			31	40	31	40
