#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
MEGF6	1953	broad.mit.edu	37	1	3407152	3407152	+	Splice_Site	SNP	C	C	T	rs542498064		TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr1:3407152C>T	ENST00000356575.4	-	37	4792	c.4566G>A	c.(4564-4566)gcG>gcA	p.A1522A	RP11-168F9.2_ENST00000606489.1_lincRNA|MEGF6_ENST00000294599.4_Splice_Site_p.A1210A	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1522						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCAGTGTGCCCGCTGGGGAAA	0.672													C|||	1	0.000199681	0.0	0.0	5008	,	,		15770	0.0		0.0	False		,,,				2504	0.001				Ovarian(73;978 3658)	uc001akl.2																			0				large_intestine(1)	1						c.(4564-4566)GCG>GCA		EGF-like-domain, multiple 3 precursor							30.0	39.0	36.0					1																	3407152		1951	4131	6082	SO:0001630	splice_region_variant	1953					extracellular region	calcium ion binding	g.chr1:3407152C>T	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.4565-1G>A	1.37:g.3407152C>T						MEGF6_uc001akk.2_Silent_p.A1210A	p.A1522A	NM_001409	NP_001400	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	37	4793	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	1522					Q4AC86|Q5VV39	Silent	SNP	ENST00000356575.4	37	c.4566G>A	CCDS41237.1																																																																																				0.672	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409	Silent
PER3	8863	broad.mit.edu	37	1	7845640	7845640	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr1:7845640G>A	ENST00000361923.2	+	2	443	c.268G>A	c.(268-270)Gtt>Att	p.V90I	PER3_ENST00000377532.3_Missense_Mutation_p.V90I|PER3_ENST00000377541.1_Missense_Mutation_p.V90I	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	90					circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TGTCCACAGCGTTCAAGGTAA	0.483																																						uc001aoo.2																			0				ovary(1)|pancreas(1)|skin(1)	3						c.(268-270)GTT>ATT		period 3							64.0	64.0	64.0					1																	7845640		2203	4300	6503	SO:0001583	missense	8863				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr1:7845640G>A	BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.268G>A	1.37:g.7845640G>A	ENSP00000355031:p.Val90Ile					PER3_uc009vmg.1_Missense_Mutation_p.V90I|PER3_uc009vmh.1_Missense_Mutation_p.V90I|PER3_uc001aop.2_Missense_Mutation_p.V90I|PER3_uc010nzw.1_5'UTR|PER3_uc001aon.2_Missense_Mutation_p.V90I	p.V90I	NM_016831	NP_058515	P56645	PER3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)	2	443	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	90					Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	ENST00000361923.2	37	c.268G>A	CCDS89.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.624478	0.66901	.	.	ENSG00000049246	ENST00000377541;ENST00000377532;ENST00000361923	T;T;T	0.39592	1.07;1.87;1.81	3.97	3.97	0.46021	.	0.000000	0.85682	D	0.000000	T	0.61073	0.2318	M	0.75264	2.295	0.53688	D	0.99997	D;D;D;D	0.76494	0.992;0.999;0.999;0.992	P;P;P;P	0.62298	0.571;0.797;0.9;0.571	T	0.68209	-0.5469	10	0.87932	D	0	.	14.818	0.70050	0.0:0.0:1.0:0.0	.	90;90;90;90	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	I	90	ENSP00000366764:V90I;ENSP00000366755:V90I;ENSP00000355031:V90I	ENSP00000355031:V90I	V	+	1	0	PER3	7768227	1.000000	0.71417	0.815000	0.32552	0.520000	0.34377	6.705000	0.74644	2.060000	0.61445	0.655000	0.94253	GTT		0.483	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000003607.1	NM_016831	
SLC2A7	155184	broad.mit.edu	37	1	9064868	9064868	+	Silent	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr1:9064868G>A	ENST00000400906.1	-	11	1262	c.1263C>T	c.(1261-1263)gaC>gaT	p.D421D		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	421					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)	p.D421D(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GCACTGCCCCGTCCACCATGA	0.652																																						uc009vmo.1																			1	Substitution - coding silent(1)		large_intestine(1)		0						c.(1261-1263)GAC>GAT		intestinal facilitative glucose transporter 7							76.0	68.0	71.0					1																	9064868		2203	4300	6503	SO:0001819	synonymous_variant	155184					integral to membrane|plasma membrane	sugar transmembrane transporter activity	g.chr1:9064868G>A	AL356306	CCDS98.2	1p36.2	2013-05-22			ENSG00000197241	ENSG00000197241		"""Solute carriers"""	13445	protein-coding gene	gene with protein product	"""intestinal facilitative glucose transporter 7"""	610371				11780753	Standard	NM_207420		Approved	GLUT7	uc009vmo.1	Q6PXP3	OTTHUMG00000057499	ENST00000400906.1:c.1263C>T	1.37:g.9064868G>A							p.D421D	NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)	11	1263	-	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	421			Helical; (Potential).		A2A333	Silent	SNP	ENST00000400906.1	37	c.1263C>T	CCDS98.2																																																																																				0.652	SLC2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127768.3	NM_207420	
CSF3R	1441	broad.mit.edu	37	1	36932400	36932400	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr1:36932400G>A	ENST00000373106.1	-	17	2616	c.2069C>T	c.(2068-2070)aCg>aTg	p.T690M	CSF3R_ENST00000373104.1_Missense_Mutation_p.T690M|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000373103.1_Missense_Mutation_p.T717M|CSF3R_ENST00000338937.5_Missense_Mutation_p.R659C|CSF3R_ENST00000331941.5_Missense_Mutation_p.T690M|MRPS15_ENST00000373116.5_5'Flank|CSF3R_ENST00000361632.4_Missense_Mutation_p.T690M|CSF3R_ENST00000440588.2_Missense_Mutation_p.T717M|CSF3R_ENST00000418048.2_Missense_Mutation_p.T690M	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	690					cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.T717M(1)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GATGGGTGGCGTGCCAAGGCC	0.612																																						uc001caw.1																			1	Substitution - Missense(1)	p.T717M(1)	central_nervous_system(1)	central_nervous_system(2)|ovary(1)	3						c.(2068-2070)ACG>ATG		colony stimulating factor 3 receptor isoform a	Filgrastim(DB00099)|Pegfilgrastim(DB00019)						55.0	58.0	57.0					1																	36932400		2203	4300	6503	SO:0001583	missense	1441				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr1:36932400G>A	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.2069C>T	1.37:g.36932400G>A	ENSP00000362198:p.Thr690Met					MRPS15_uc001cas.2_5'Flank|CSF3R_uc001cat.1_Missense_Mutation_p.T252M|CSF3R_uc009vvc.1_Missense_Mutation_p.T219M|CSF3R_uc001cau.1_Missense_Mutation_p.T90M|CSF3R_uc001cav.1_Missense_Mutation_p.T690M|CSF3R_uc001cax.1_Missense_Mutation_p.T717M|CSF3R_uc001cay.1_Missense_Mutation_p.R659C	p.T690M	NM_000760	NP_000751	Q99062	CSF3R_HUMAN			17	2247	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	690			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000373106.1	37	c.2069C>T	CCDS413.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.988|3.988	-0.004969|-0.004969	0.07773|0.07773	.|.	.|.	ENSG00000119535|ENSG00000119535	ENST00000464465;ENST00000338937|ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000440588	T|T;T;T;T;T;T;T	0.33654|0.49139	1.4|0.94;0.79;0.89;0.94;0.79;0.94;0.89	5.81|5.81	1.03|1.03	0.20045|0.20045	.|.	.|.	.|.	.|.	.|.	T|T	0.20047|0.20047	0.0482|0.0482	N|N	0.02539|0.02539	-0.55|-0.55	0.24556|0.24556	N|N	0.993994|0.993994	B|B;B;B;B	0.02656|0.02656	0.0|0.0;0.0;0.0;0.0	B|B;B;B;B	0.01281|0.04013	0.0|0.0;0.001;0.0;0.001	T|T	0.21449|0.21449	-1.0245|-1.0245	9|9	0.66056|0.27785	D|T	0.02|0.31	-3.5275|-3.5275	7.4164|7.4164	0.27047|0.27047	0.653:0.0:0.347:0.0|0.653:0.0:0.347:0.0	.|.	659|690;717;690;690	E1B6W6|Q1ZYL6;Q99062-3;Q99062;Q99062-4	.|.;.;CSF3R_HUMAN;.	C|M	242;659|690;690;717;690;690;690;717	ENSP00000345013:R659C|ENSP00000362198:T690M;ENSP00000362196:T690M;ENSP00000362195:T717M;ENSP00000355406:T690M;ENSP00000332180:T690M;ENSP00000401588:T690M;ENSP00000397568:T717M	ENSP00000345013:R659C|ENSP00000332180:T690M	R|T	-|-	1|2	0|0	CSF3R|CSF3R	36704987|36704987	0.766000|0.766000	0.28496|0.28496	0.394000|0.394000	0.26270|0.26270	0.260000|0.260000	0.26232|0.26232	0.546000|0.546000	0.23284|0.23284	0.141000|0.141000	0.18875|0.18875	-1.004000|-1.004000	0.02495|0.02495	CGC|ACG		0.612	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039	
DNALI1	7802	broad.mit.edu	37	1	38027710	38027710	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr1:38027710A>G	ENST00000296218.7	+	5	681	c.671A>G	c.(670-672)gAc>gGc	p.D224G	DNALI1_ENST00000541606.1_Missense_Mutation_p.D76G|DNALI1_ENST00000497858.1_3'UTR	NM_003462.3	NP_003453.2	O14645	IDLC_HUMAN	dynein, axonemal, light intermediate chain 1	202					cellular component movement (GO:0006928)|metabolic process (GO:0008152)|single fertilization (GO:0007338)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|filopodium (GO:0030175)	microtubule motor activity (GO:0003777)			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAAAAGAGAGACCTGGAGAGG	0.557											OREG0013380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001cbj.2																			0				large_intestine(1)|ovary(1)	2						c.(670-672)GAC>GGC		dynein, axonemal, light intermediate chain 1							97.0	100.0	99.0					1																	38027710		2203	4300	6503	SO:0001583	missense	7802				cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity	g.chr1:38027710A>G	AF006386	CCDS420.1	1p35.1	2008-07-18	2006-09-04		ENSG00000163879	ENSG00000163879		"""Axonemal dyneins"""	14353	protein-coding gene	gene with protein product	"""inner dynein arm, homolog of clamydomonas"", ""dJ423B22.5 (axonemal dynein light chain (hp28))"""	602135	"""dynein, axonemal, light intermediate polypeptide 1"""			9284741	Standard	NM_003462		Approved	P28, hp28, dJ423B22.5	uc001cbj.3	O14645	OTTHUMG00000004222	ENST00000296218.7:c.671A>G	1.37:g.38027710A>G	ENSP00000296218:p.Asp224Gly		OREG0013380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	875	DNALI1_uc010oie.1_RNA	p.D224G	NM_003462	NP_003453	O14645	IDLC_HUMAN			5	681	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	202			Potential.		A8K387|B4DHN6|Q05BL9|Q5HYE2|Q5TGH0|Q7L0I5	Missense_Mutation	SNP	ENST00000296218.7	37	c.671A>G	CCDS420.1	.	.	.	.	.	.	.	.	.	.	A	17.92	3.506333	0.64410	.	.	ENSG00000163879	ENST00000296218;ENST00000541606	T	0.47528	0.84	5.41	5.41	0.78517	.	0.091594	0.64402	D	0.000001	T	0.64692	0.2621	M	0.75777	2.31	0.80722	D	1	D	0.61080	0.989	P	0.59703	0.862	T	0.65125	-0.6244	10	0.37606	T	0.19	-12.7777	15.738	0.77863	1.0:0.0:0.0:0.0	.	202	O14645	IDLC_HUMAN	G	224;76	ENSP00000296218:D224G	ENSP00000296218:D224G	D	+	2	0	DNALI1	37800297	1.000000	0.71417	0.923000	0.36655	0.989000	0.77384	9.287000	0.95975	2.171000	0.68590	0.482000	0.46254	GAC		0.557	DNALI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012159.1	NM_003462	
FAM46C	54855	broad.mit.edu	37	1	118165644	118165644	+	Missense_Mutation	SNP	G	G	A	rs538766512		TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr1:118165644G>A	ENST00000369448.3	+	2	401	c.154G>A	c.(154-156)Gtc>Atc	p.V52I		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	52								p.V52I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		GAAGGACATCGTCCAGACCGT	0.567			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)			G|||	1	0.000199681	0.0	0.0	5008	,	,		22271	0.0		0.0	False		,,,				2504	0.001					uc001ehe.2				Rec	yes		1	1p12	54855		"""family with sequence similarity 46, member C"""			L					1	Substitution - Missense(1)		endometrium(1)		0						c.(154-156)GTC>ATC		hypothetical protein LOC54855							84.0	78.0	80.0					1																	118165644		2203	4300	6503	SO:0001583	missense	54855							g.chr1:118165644G>A	BC036516	CCDS896.1	1p12	2008-02-05			ENSG00000183508	ENSG00000183508			24712	protein-coding gene	gene with protein product		613952				12477932	Standard	NM_017709		Approved	FLJ20202	uc001ehe.3	Q5VWP2	OTTHUMG00000013703	ENST00000369448.3:c.154G>A	1.37:g.118165644G>A	ENSP00000358458:p.Val52Ile	Multiple Myeloma(3;1.13e-06)					p.V52I	NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)	2	353	+	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)	52					A3KMG2|Q8NE25|Q9NXK0	Missense_Mutation	SNP	ENST00000369448.3	37	c.154G>A	CCDS896.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.594007	0.46214	.	.	ENSG00000183508	ENST00000369448	T	0.23348	1.91	5.75	5.75	0.90469	Domain of unknown function DUF1693 (1);	0.000000	0.64402	D	0.000010	T	0.26484	0.0647	N	0.25647	0.755	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.02179	-1.1200	10	0.15499	T	0.54	-12.7603	18.9258	0.92544	0.0:0.0:1.0:0.0	.	52	Q5VWP2	FA46C_HUMAN	I	52	ENSP00000358458:V52I	ENSP00000358458:V52I	V	+	1	0	FAM46C	117967167	1.000000	0.71417	0.979000	0.43373	0.965000	0.64279	7.928000	0.87587	2.711000	0.92665	0.655000	0.94253	GTC		0.567	FAM46C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038424.1	NM_017709	
ZNF697	90874	broad.mit.edu	37	1	120165750	120165750	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr1:120165750C>A	ENST00000421812.2	-	3	1335	c.1216G>T	c.(1216-1218)Gag>Tag	p.E406*		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	406					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		TAGGGCTTCTCGCCCGTGTGC	0.672																																						uc001ehy.1																			0				ovary(1)	1						c.(1216-1218)GAG>TAG		zinc finger protein 697							16.0	17.0	17.0					1																	120165750		2199	4294	6493	SO:0001587	stop_gained	90874				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:120165750C>A	AK027019, BC033126	CCDS44202.1	1p12	2013-01-08			ENSG00000143067	ENSG00000143067		"""Zinc fingers, C2H2-type"""	32034	protein-coding gene	gene with protein product							Standard	NM_001080470		Approved	MGC45731	uc001ehy.1	Q5TEC3	OTTHUMG00000012962	ENST00000421812.2:c.1216G>T	1.37:g.120165750C>A	ENSP00000396857:p.Glu406*						p.E406*	NM_001080470	NP_001073939	Q5TEC3	ZN697_HUMAN		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)	3	1330	-	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)	406					Q96IT2	Nonsense_Mutation	SNP	ENST00000421812.2	37	c.1216G>T	CCDS44202.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647371	0.87958	.	.	ENSG00000143067	ENST00000421812	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.6765	0.77332	0.0:1.0:0.0:0.0	.	.	.	.	X	406	.	ENSP00000396857:E406X	E	-	1	0	ZNF697	119967273	0.998000	0.40836	1.000000	0.80357	0.260000	0.26232	4.796000	0.62496	2.384000	0.81235	0.563000	0.77884	GAG		0.672	ZNF697-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036349.3	XM_371286	
AQP10	89872	broad.mit.edu	37	1	154294529	154294529	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr1:154294529G>A	ENST00000324978.3	+	2	266	c.226G>A	c.(226-228)Gtc>Atc	p.V76I	AQP10_ENST00000355197.4_Intron|AQP10_ENST00000484864.1_Missense_Mutation_p.V76I	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	76					response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGGTGGTAACGTCTCAGGTGA	0.547																																						uc001feu.2																			0				central_nervous_system(1)	1						c.(226-228)GTC>ATC		aquaporin 10							65.0	55.0	59.0					1																	154294529		2203	4300	6503	SO:0001583	missense	89872				response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	g.chr1:154294529G>A	AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"""Ion channels / Aquaporins"""	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.226G>A	1.37:g.154294529G>A	ENSP00000318355:p.Val76Ile					AQP10_uc001fev.2_Missense_Mutation_p.V76I	p.V76I	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		2	266	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		76			Cytoplasmic (Potential).		Q5VYD3|Q5VYD4|Q8NG70	Missense_Mutation	SNP	ENST00000324978.3	37	c.226G>A	CCDS1065.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.018857	0.54576	.	.	ENSG00000143595	ENST00000324978;ENST00000484864	D;D	0.82984	-1.67;-1.67	5.25	4.34	0.51931	Aquaporin-like (2);	0.062959	0.64402	D	0.000007	T	0.58235	0.2108	N	0.17631	0.505	0.31011	N	0.719182	P;P	0.51933	0.664;0.949	B;P	0.46253	0.292;0.509	T	0.55335	-0.8157	10	0.18710	T	0.47	.	9.5679	0.39409	0.1683:0.0:0.8317:0.0	.	76;76	Q96PS8-2;Q96PS8	.;AQP10_HUMAN	I	76	ENSP00000318355:V76I;ENSP00000420341:V76I	ENSP00000318355:V76I	V	+	1	0	AQP10	152561153	0.955000	0.32602	0.997000	0.53966	0.911000	0.54048	1.916000	0.39986	1.443000	0.47586	0.511000	0.50034	GTC		0.547	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	NM_080429	
TMEM79	84283	broad.mit.edu	37	1	156255048	156255048	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr1:156255048G>A	ENST00000405535.2	+	2	202	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K	TMEM79_ENST00000295694.5_Missense_Mutation_p.E11K|SMG5_ENST00000361813.5_5'Flank|TMEM79_ENST00000495881.1_3'UTR|SMG5_ENST00000368267.5_5'Flank|TMEM79_ENST00000357501.2_Missense_Mutation_p.E11K	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	11					cornification (GO:0070268)|cuticle development (GO:0042335)|epithelial cell maturation (GO:0002070)|establishment of skin barrier (GO:0061436)|hair follicle morphogenesis (GO:0031069)|positive regulation of epidermis development (GO:0045684)|regulated secretory pathway (GO:0045055)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					GGCCCTACTGGAAGTGAAGAG	0.597																																						uc010phi.1																			0				central_nervous_system(1)	1						c.(31-33)GAA>AAA		transmembrane protein 79							47.0	51.0	49.0					1																	156255048		2203	4300	6503	SO:0001583	missense	84283					integral to membrane		g.chr1:156255048G>A	BC005094	CCDS1138.1	1q22	2014-04-22			ENSG00000163472	ENSG00000163472			28196	protein-coding gene	gene with protein product	"""mattrin"""	615531					Standard	NM_032323		Approved	MGC13102, FLJ16057, FLJ32254, MATT	uc009wrw.3	Q9BSE2	OTTHUMG00000019788	ENST00000405535.2:c.31G>A	1.37:g.156255048G>A	ENSP00000384748:p.Glu11Lys					SMG5_uc001foc.3_5'Flank|TMEM79_uc001fod.2_5'UTR|TMEM79_uc009wrw.2_Missense_Mutation_p.E11K	p.E11K	NM_032323	NP_115699	Q9BSE2	TMM79_HUMAN			2	227	+	Hepatocellular(266;0.158)		11					B2RE22|D3DVB8	Missense_Mutation	SNP	ENST00000405535.2	37	c.31G>A	CCDS1138.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154704	0.57259	.	.	ENSG00000163472	ENST00000295694;ENST00000357501;ENST00000405535;ENST00000456810	T;T	0.55234	0.53;0.53	6.07	5.15	0.70609	.	0.364866	0.28476	N	0.015212	T	0.28433	0.0703	L	0.32530	0.975	0.30334	N	0.786399	P	0.35575	0.51	B	0.36666	0.23	T	0.26573	-1.0099	10	0.66056	D	0.02	-13.9445	13.4896	0.61386	0.0:0.1562:0.8438:0.0	.	11	Q9BSE2	TMM79_HUMAN	K	11	ENSP00000295694:E11K;ENSP00000384748:E11K	ENSP00000295694:E11K	E	+	1	0	TMEM79	154521672	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	3.662000	0.54510	1.561000	0.49584	0.655000	0.94253	GAA		0.597	TMEM79-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052101.1	NM_032323	
NR1I3	9970	broad.mit.edu	37	1	161202999	161203000	+	Frame_Shift_Ins	INS	-	-	G	rs139473535	byFrequency	TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr1:161202999_161203000insG	ENST00000367982.4	-	4	522_523	c.367_368insC	c.(367-369)cgcfs	p.R123fs	NR1I3_ENST00000367981.3_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000515621.1_Frame_Shift_Ins_p.R48fs|NR1I3_ENST00000504010.1_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000512372.1_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000511676.1_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000412844.2_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000505005.1_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000508740.1_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000515452.1_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000437437.2_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000479324.1_5'Flank|NR1I3_ENST00000428574.2_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000506209.1_Frame_Shift_Ins_p.R94fs|NR1I3_ENST00000367984.4_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000367980.2_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000367979.2_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000367983.4_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000367985.3_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000442691.2_Frame_Shift_Ins_p.R123fs|NR1I3_ENST00000508387.1_Intron			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	123					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GCCCATGTGGCGGGTGTGGGCC	0.564																																						uc001fzx.2																			0				ovary(1)|skin(1)	2						c.(367-369)CGCfs		constitutive androstane receptor isoform 2																																				SO:0001589	frameshift_variant	9970				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr1:161202999_161203000insG	Z30425	CCDS1228.1, CCDS41427.1, CCDS41428.1, CCDS41429.1, CCDS41430.1, CCDS44260.1, CCDS44261.1, CCDS44262.1, CCDS53405.1, CCDS53406.1, CCDS53407.1, CCDS53408.1, CCDS53409.1, CCDS53410.1, CCDS53411.1	1q23.3	2013-01-16			ENSG00000143257	ENSG00000143257		"""Nuclear hormone receptors"""	7969	protein-coding gene	gene with protein product	"""constitutive androstane receptor"""	603881				8114692	Standard	NM_001077480		Approved	MB67, CAR1, CAR	uc001fzp.3	Q14994	OTTHUMG00000034347	ENST00000367982.4:c.368dupC	1.37:g.161203002_161203002dupG	ENSP00000356961:p.Arg123fs					TOMM40L_uc009wuf.1_Intron|NR1I3_uc001fzf.2_Frame_Shift_Ins_p.R123fs|NR1I3_uc001fzg.2_Frame_Shift_Ins_p.R94fs|NR1I3_uc001fzh.2_Frame_Shift_Ins_p.R94fs|NR1I3_uc001fzi.2_Frame_Shift_Ins_p.R94fs|NR1I3_uc001fzj.2_Frame_Shift_Ins_p.R94fs|NR1I3_uc001fzk.2_Frame_Shift_Ins_p.R94fs|NR1I3_uc001fzl.2_Frame_Shift_Ins_p.R94fs|NR1I3_uc001fzm.2_Frame_Shift_Ins_p.R48fs|NR1I3_uc001fzn.2_Intron|NR1I3_uc009wug.2_Intron|NR1I3_uc001fzp.2_Frame_Shift_Ins_p.R123fs|NR1I3_uc001fzo.2_Intron|NR1I3_uc001fzq.2_Intron|NR1I3_uc001fzr.2_Intron|NR1I3_uc001fzs.2_Intron|NR1I3_uc001fzt.2_Intron|NR1I3_uc001fzu.2_Intron|NR1I3_uc001fzv.2_Intron|NR1I3_uc001fzw.2_Frame_Shift_Ins_p.R123fs|NR1I3_uc001fzy.2_Frame_Shift_Ins_p.R123fs|NR1I3_uc001fzz.2_Frame_Shift_Ins_p.R123fs|NR1I3_uc001gaa.2_Frame_Shift_Ins_p.R123fs|NR1I3_uc001gab.2_Frame_Shift_Ins_p.R123fs|NR1I3_uc001gac.2_Frame_Shift_Ins_p.R94fs|NR1I3_uc010pkm.1_Frame_Shift_Ins_p.R94fs|NR1I3_uc010pkn.1_Frame_Shift_Ins_p.R123fs	p.R123fs	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		4	570_571	-	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		123					E9PB75|E9PC13|E9PDU3|E9PGH6|E9PH10|E9PHC8|E9PHN4|F1D8Q0|F1D8Q1|Q0VAC9|Q4U0F0|Q5VTW5|Q5VTW6|Q6GZ68|Q6GZ76|Q6GZ77|Q6GZ78|Q6GZ79|Q6GZ82|Q6GZ83|Q6GZ84|Q6GZ85|Q6GZ87|Q6GZ89	Frame_Shift_Ins	INS	ENST00000367982.4	37	c.367_368insC	CCDS41430.1																																																																																				0.564	NR1I3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083048.2		
SVIL	6840	broad.mit.edu	37	10	29839816	29839816	+	Silent	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr10:29839816G>A	ENST00000355867.4	-	6	1289	c.537C>T	c.(535-537)gcC>gcT	p.A179A	SVIL_ENST00000375398.2_Silent_p.A179A|SVIL_ENST00000375400.3_Silent_p.A179A	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	179					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGGATTCACCGGCACAGGTCC	0.557																																						uc001iut.1																			0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(535-537)GCC>GCT		supervillin isoform 2							86.0	87.0	87.0					10																	29839816		2203	4300	6503	SO:0001819	synonymous_variant	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29839816G>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.537C>T	10.37:g.29839816G>A						SVIL_uc001iuu.1_Silent_p.A179A|SVIL_uc009xld.1_Silent_p.A179A	p.A179A	NM_021738	NP_068506	O95425	SVIL_HUMAN			6	1290	-		Breast(68;0.103)	179					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	ENST00000355867.4	37	c.537C>T	CCDS7164.1																																																																																				0.557	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1		
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						uc010qex.1																			0					0						c.(523-525)AAT>AGT		SubName: Full=cDNA FLJ60462, highly similar to 3-keto-steroid reductase (EC 1.1.1.270);																																						158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G						HSD17B7P2_uc001izq.2_RNA|HSD17B7P2_uc001izo.1_RNA|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S	p.N175S							5	599	+									Missense_Mutation	SNP	ENST00000494540.1	37	c.524A>G																																																																																					0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086	
MUC5B	727897	broad.mit.edu	37	11	1251288	1251288	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr11:1251288G>A	ENST00000529681.1	+	11	1332	c.1274G>A	c.(1273-1275)tGc>tAc	p.C425Y	MUC5B_ENST00000447027.1_Missense_Mutation_p.C428Y	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	425	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCTGGCACCTGCTCTGTGCAG	0.652																																						uc009ycr.1																			0					0						c.(3250-3252)TGC>TAC		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							64.0	65.0	65.0					11																	1251288		1961	4138	6099	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1251288G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.1274G>A	11.37:g.1251288G>A	ENSP00000436812:p.Cys425Tyr					MUC5B_uc009yct.1_Missense_Mutation_p.C425Y|MUC5B_uc001ltb.2_Missense_Mutation_p.C428Y|MUC5B_uc001lta.2_Missense_Mutation_p.C93Y	p.C1084Y	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	27	3377	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	425			VWFD 2.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.3251G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	10.95	1.494459	0.26774	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	D;D	0.83506	-1.73;-1.73	4.26	4.26	0.50523	von Willebrand factor, type D domain (3);VWC out (1);	.	.	.	.	D	0.94941	0.8364	H	0.98701	4.305	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97515	1.0069	9	0.87932	D	0	.	16.7017	0.85351	0.0:0.0:1.0:0.0	.	425;1084;428	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	Y	425;428;426;461	ENSP00000436812:C425Y;ENSP00000415793:C428Y	ENSP00000343037:C426Y	C	+	2	0	MUC5B	1207864	1.000000	0.71417	1.000000	0.80357	0.151000	0.21798	9.656000	0.98514	1.914000	0.55421	0.313000	0.20887	TGC		0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
NAV2	89797	broad.mit.edu	37	11	20099593	20099593	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr11:20099593G>A	ENST00000396087.3	+	26	5389	c.5290G>A	c.(5290-5292)Gca>Aca	p.A1764T	NAV2_ENST00000396085.1_Missense_Mutation_p.A1708T|NAV2_ENST00000349880.4_Missense_Mutation_p.A1708T|NAV2_ENST00000360655.4_Missense_Mutation_p.A1644T|NAV2_ENST00000311043.8_Missense_Mutation_p.A772T|NAV2_ENST00000527559.2_Missense_Mutation_p.A1693T|NAV2_ENST00000533917.1_Missense_Mutation_p.A772T|NAV2_ENST00000540292.1_Missense_Mutation_p.A1695T	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1764					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GAAACAGAACGCAGCTGCCCA	0.433																																						uc010rdm.1																			0				skin(4)|ovary(1)|pancreas(1)	6						c.(5290-5292)GCA>ACA		neuron navigator 2 isoform 2							50.0	46.0	48.0					11																	20099593		2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20099593G>A	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.5290G>A	11.37:g.20099593G>A	ENSP00000379396:p.Ala1764Thr					NAV2_uc001mpp.2_Missense_Mutation_p.A1644T|NAV2_uc001mpr.3_Missense_Mutation_p.A1708T|NAV2_uc001mpt.2_Missense_Mutation_p.A757T|NAV2_uc009yhx.2_Missense_Mutation_p.A772T|NAV2_uc009yhy.1_Missense_Mutation_p.A670T|NAV2_uc009yhz.2_Missense_Mutation_p.A353T|NAV2_uc001mpu.2_Missense_Mutation_p.A146T	p.A1764T	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN			26	5651	+			1764			Potential.		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.5290G>A	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.348218	0.82132	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	D;D;D;D;D;D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34;-3.34;-3.34;-3.34;-3.34;-3.34	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000002	D	0.94105	0.8110	N	0.20766	0.605	0.80722	D	1	D;D;D;D;P;D	0.89917	0.99;1.0;1.0;1.0;0.733;0.978	P;D;D;D;B;P	0.85130	0.579;0.986;0.949;0.997;0.163;0.772	D	0.92608	0.6097	9	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1708;1764;772;757;1708;1644	A7E2D6;Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	.;NAV2_HUMAN;.;.;.;.	T	1644;1708;1708;1764;1693;1695;772;757;772;757	ENSP00000353871:A1644T;ENSP00000379394:A1708T;ENSP00000309577:A1708T;ENSP00000379396:A1764T;ENSP00000435395:A1693T;ENSP00000443489:A1695T;ENSP00000437316:A772T;ENSP00000437136:A757T;ENSP00000312169:A772T	.	A	+	1	0	NAV2	20056169	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.954000	0.87848	2.941000	0.99782	0.655000	0.94253	GCA		0.433	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117	
NOX4	50507	broad.mit.edu	37	11	89073272	89073272	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr11:89073272A>C	ENST00000263317.4	-	15	1643	c.1405T>G	c.(1405-1407)Ttc>Gtc	p.F469V	NOX4_ENST00000527626.1_Intron|NOX4_ENST00000528341.1_Missense_Mutation_p.F444V|NOX4_ENST00000534731.1_Missense_Mutation_p.F429V|NOX4_ENST00000532825.1_Missense_Mutation_p.F405V|NOX4_ENST00000413594.2_Missense_Mutation_p.F490V|NOX4_ENST00000375979.3_Missense_Mutation_p.F162V|NOX4_ENST00000535633.1_Missense_Mutation_p.F445V|NOX4_ENST00000525196.1_Missense_Mutation_p.F233V|NOX4_ENST00000542487.1_Missense_Mutation_p.F445V|NOX4_ENST00000527956.1_Missense_Mutation_p.F445V|NOX4_ENST00000531342.1_Missense_Mutation_p.F122V|NOX4_ENST00000424319.1_Missense_Mutation_p.F445V|NOX4_ENST00000343727.5_Missense_Mutation_p.F445V			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	469	Mediates interaction with TLR4.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AACCAACGGAAGGACTGGATA	0.328																																						uc001pct.2																			0				ovary(1)|central_nervous_system(1)	2						c.(1405-1407)TTC>GTC		NADPH oxidase 4 isoform a							137.0	135.0	136.0					11																	89073272		2201	4298	6499	SO:0001583	missense	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89073272A>C	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1405T>G	11.37:g.89073272A>C	ENSP00000263317:p.Phe469Val					NOX4_uc009yvr.2_Missense_Mutation_p.F444V|NOX4_uc001pcu.2_Missense_Mutation_p.F395V|NOX4_uc001pcw.2_Missense_Mutation_p.F162V|NOX4_uc001pcx.2_Missense_Mutation_p.F122V|NOX4_uc001pcv.2_Missense_Mutation_p.F429V|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Intron|NOX4_uc009yvp.2_Missense_Mutation_p.F233V|NOX4_uc010rtv.1_Missense_Mutation_p.F405V|NOX4_uc009yvq.2_Missense_Mutation_p.F445V	p.F469V	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN			15	1644	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	469			Cytoplasmic (Potential).|Mediates interaction with TLR4.		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	ENST00000263317.4	37	c.1405T>G	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.112712	0.77210	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000525196;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000528341;ENST00000413594;ENST00000531342;ENST00000375979	D;D;D;D;D;D;D;D;D;D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57;-3.57;-3.57;-3.57;-3.57;-3.57;-3.57;-3.57;-3.57;-3.57	5.34	5.34	0.76211	Ferric reductase, NAD binding (1);	0.000000	0.85682	D	0.000000	D	0.96938	0.9000	M	0.78456	2.415	0.58432	D	0.999997	D;D;D;D;P;D;P	0.89917	0.987;1.0;1.0;0.989;0.708;1.0;0.861	D;D;D;D;B;D;P	0.97110	0.952;1.0;0.998;0.969;0.425;0.996;0.616	D	0.97007	0.9733	9	.	.	.	-12.9072	14.968	0.71210	1.0:0.0:0.0:0.0	.	405;444;233;122;162;429;469	E9PMY6;E9PPP2;E9PI95;Q9NPH5-3;Q9NPH5-4;Q9NPH5-6;Q9NPH5	.;.;.;.;.;.;NOX4_HUMAN	V	445;445;445;429;233;469;405;445;445;444;490;122;162	ENSP00000412446:F445V;ENSP00000440172:F445V;ENSP00000344747:F445V;ENSP00000436892:F429V;ENSP00000436716:F233V;ENSP00000263317:F469V;ENSP00000434924:F405V;ENSP00000433797:F445V;ENSP00000439373:F445V;ENSP00000436970:F444V;ENSP00000405705:F490V;ENSP00000435039:F122V;ENSP00000365146:F162V	.	F	-	1	0	NOX4	88712920	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	8.712000	0.91403	2.022000	0.59522	0.377000	0.23210	TTC		0.328	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931	
Unknown	0	broad.mit.edu	37	12	9447432	9447432	+	IGR	SNP	C	C	G	rs375245550		TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr12:9447432C>G								SNORA75 (8014 upstream) : RP13-735L24.1 (72627 downstream)														p.T167R(1)									GAAGAAGAAACAGAGAATCTC	0.632																																						uc010sgq.1																			1	Substitution - Missense(1)		stomach(1)		0						c.(421-423)ACA>AGA		SubName: Full=cDNA FLJ60032, highly similar to Probable ATP-dependent RNA helicase DDX11 (EC 3.6.1.-);																																				SO:0001628	intergenic_variant	642846							g.chr12:9447432C>G																													12.37:g.9447432C>G						LOC642846_uc010sgp.1_RNA|LOC642846_uc009zgn.1_5'UTR|LOC642846_uc001qvo.2_5'UTR	p.T141R							5	513	+									Missense_Mutation	SNP		37	c.422C>G																																																																																				0	0.632								
LRP1	4035	broad.mit.edu	37	12	57581183	57581183	+	Silent	SNP	C	C	T	rs372464430		TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr12:57581183C>T	ENST00000243077.3	+	42	7441	c.6975C>T	c.(6973-6975)gtC>gtT	p.V2325V		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2325					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTGAGACCGTCATCACTATGT	0.612																																						uc001snd.2																			0				ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(6973-6975)GTC>GTT		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	C		0,4406		0,0,2203	79.0	70.0	73.0		6975	0.6	1.0	12		73	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LRP1	NM_002332.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		2325/4545	57581183	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57581183C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.6975C>T	12.37:g.57581183C>T							p.V2325V	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	42	7441	+			2325			LDL-receptor class B 22.|Extracellular (Potential).		Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.6975C>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	5.499	0.277084	0.10403	0.0	1.16E-4	ENSG00000123384	ENST00000554118	.	.	.	4.54	0.642	0.17765	.	.	.	.	.	T	0.55097	0.1899	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45440	-0.9261	4	.	.	.	.	8.2141	0.31501	0.0:0.5835:0.0:0.4165	.	.	.	.	L	11	.	.	S	+	2	0	LRP1	55867450	0.757000	0.28394	0.966000	0.40874	0.454000	0.32378	-0.188000	0.09642	0.015000	0.14971	-0.140000	0.14226	TCA		0.612	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332	
PCDH17	27253	broad.mit.edu	37	13	58207302	58207303	+	Frame_Shift_Ins	INS	-	-	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr13:58207302_58207303insA	ENST00000377918.3	+	1	648_649	c.622_623insA	c.(622-624)cacfs	p.H208fs		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	208	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GCAACAGAATCACCATACGCTC	0.599																																					Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1																			0				ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(622-624)CACfs		protocadherin 17 precursor																																				SO:0001589	frameshift_variant	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58207302_58207303insA	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.623dupA	13.37:g.58207303_58207303dupA	ENSP00000367151:p.His208fs					PCDH17_uc010aec.1_Frame_Shift_Ins_p.H208fs	p.H208fs	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	1514_1515	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	208			Extracellular (Potential).|Cadherin 2.		A8K1R5|Q5VVW9|Q5VVX0	Frame_Shift_Ins	INS	ENST00000377918.3	37	c.622_623insA	CCDS31986.1																																																																																				0.599	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429	
MBIP	51562	broad.mit.edu	37	14	36789728	36789728	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr14:36789728G>T	ENST00000416007.4	-	1	154	c.67C>A	c.(67-69)Ccc>Acc	p.P23T	MBIP_ENST00000359527.7_Missense_Mutation_p.P23T|MBIP_ENST00000318473.7_Missense_Mutation_p.P23T	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	23					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|inactivation of MAPK activity involved in osmosensory signaling pathway (GO:0000173)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein kinase inhibitor activity (GO:0004860)			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		GAGAGGTTGGGTCTGCATCTT	0.587																																						uc001wtm.2																			0					0						c.(67-69)CCC>ACC		MAP3K12 binding inhibitory protein 1 isoform 1							93.0	77.0	83.0					14																	36789728		2203	4300	6503	SO:0001583	missense	51562				histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity	g.chr14:36789728G>T	BC016821	CCDS9658.1, CCDS45096.1	14q13.2	2005-01-10			ENSG00000151332	ENSG00000151332			20427	protein-coding gene	gene with protein product		609431				10801814	Standard	NM_016586		Approved		uc001wtm.2	Q9NS73	OTTHUMG00000140222	ENST00000416007.4:c.67C>A	14.37:g.36789728G>T	ENSP00000399718:p.Pro23Thr					MBIP_uc001wto.2_Missense_Mutation_p.P23T|MBIP_uc010tpy.1_5'UTR|MBIP_uc001wtn.2_Missense_Mutation_p.P23T	p.P23T	NM_016586	NP_057670	Q9NS73	MBIP1_HUMAN	Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)	1	155	-	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		23					Q86TZ2|Q96AS5|Q9BS93|Q9NZE1	Missense_Mutation	SNP	ENST00000416007.4	37	c.67C>A	CCDS9658.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.52|15.52	2.856630|2.856630	0.51376|0.51376	.|.	.|.	ENSG00000151332|ENSG00000151332	ENST00000416007;ENST00000318473;ENST00000359527;ENST00000396329;ENST00000553298|ENST00000553977;ENST00000553549	T;T;T|.	0.36157|.	1.33;1.34;1.27|.	4.49|4.49	4.49|4.49	0.54785|0.54785	.|.	0.328711|.	0.32970|.	N|.	0.005437|.	T|T	0.52709|0.52709	0.1751|0.1751	L|L	0.36672|0.36672	1.1|1.1	0.34735|0.34735	D|D	0.730176|0.730176	P;P;P|.	0.44429|.	0.835;0.59;0.835|.	P;B;P|.	0.46208|.	0.507;0.407;0.507|.	T|T	0.58858|0.58858	-0.7562|-0.7562	10|5	0.44086|.	T|.	0.13|.	-10.7357|-10.7357	14.9919|14.9919	0.71396|0.71396	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	23;23;23|.	Q9NS73-5;Q9NS73-3;Q9NS73|.	.;.;MBIP1_HUMAN|.	T|N	23|19;3	ENSP00000399718:P23T;ENSP00000324444:P23T;ENSP00000352517:P23T|.	ENSP00000324444:P23T|.	P|T	-|-	1|2	0|0	MBIP|MBIP	35859479|35859479	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.095000|0.095000	0.18619|0.18619	4.217000|4.217000	0.58547|0.58547	2.785000|2.785000	0.95823|0.95823	0.591000|0.591000	0.81541|0.81541	CCC|ACC		0.587	MBIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276685.2	NM_016586	
FBN1	2200	broad.mit.edu	37	15	48787734	48787734	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr15:48787734C>T	ENST00000316623.5	-	21	2926	c.2471G>A	c.(2470-2472)aGc>aAc	p.S824N		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	824	EGF-like 13; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGAGCCTGGGCTGTTCTTGCA	0.368																																						uc001zwx.1																			0				ovary(2)|large_intestine(1)	3						c.(2470-2472)AGC>AAC		fibrillin 1 precursor							186.0	202.0	197.0					15																	48787734		2197	4296	6493	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48787734C>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.2471G>A	15.37:g.48787734C>T	ENSP00000325527:p.Ser824Asn						p.S824N	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	21	2799	-		all_lung(180;0.00279)	824			EGF-like 13; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.2471G>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	9.652	1.141934	0.21205	.	.	ENSG00000166147	ENST00000316623	D	0.87571	-2.27	5.87	3.9	0.45041	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.173798	0.64402	D	0.000006	T	0.75882	0.3910	L	0.27053	0.805	0.80722	D	1	B	0.14805	0.011	B	0.13407	0.009	T	0.66559	-0.5893	10	0.12430	T	0.62	.	9.1487	0.36948	0.1305:0.4519:0.4176:0.0	.	824	P35555	FBN1_HUMAN	N	824	ENSP00000325527:S824N	ENSP00000325527:S824N	S	-	2	0	FBN1	46575026	0.803000	0.28956	1.000000	0.80357	0.998000	0.95712	0.809000	0.27168	1.444000	0.47605	0.555000	0.69702	AGC		0.368	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		
AKAP13	11214	broad.mit.edu	37	15	86123972	86123972	+	Silent	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr15:86123972C>T	ENST00000394518.2	+	7	2768	c.2673C>T	c.(2671-2673)gaC>gaT	p.D891D	RP11-815J21.2_ENST00000561409.1_RNA|AKAP13_ENST00000361243.2_Silent_p.D891D	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	891					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GGAACACTGACTCTTCCCTGC	0.512																																					Melanoma(94;603 1453 3280 32295 32951)	uc002blv.1																			0				central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						c.(2671-2673)GAC>GAT		A-kinase anchor protein 13 isoform 2							71.0	70.0	70.0					15																	86123972		2202	4299	6501	SO:0001819	synonymous_variant	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86123972C>T	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.2673C>T	15.37:g.86123972C>T						AKAP13_uc002blt.1_Silent_p.D891D|AKAP13_uc002blu.1_Silent_p.D891D|AKAP13_uc010bne.1_5'Flank	p.D891D	NM_007200	NP_009131	Q12802	AKP13_HUMAN			7	2843	+			891					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	37	c.2673C>T	CCDS32319.1																																																																																				0.512	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200	
FANCI	55215	broad.mit.edu	37	15	89859631	89859631	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr15:89859631A>G	ENST00000310775.7	+	38	4014	c.3928A>G	c.(3928-3930)Act>Gct	p.T1310A	POLG_ENST00000268124.5_3'UTR|FANCI_ENST00000300027.8_Missense_Mutation_p.T1250A|POLG_ENST00000442287.2_3'UTR|FANCI_ENST00000566615.1_3'UTR	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	1310					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					CTTCTAGGGCACTGCATCAGA	0.398								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc010bnp.1																			0				ovary(2)	2						c.(3928-3930)ACT>GCT	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group I isoform							56.0	54.0	55.0					15																	89859631		2200	4299	6499	SO:0001583	missense	55215	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle|DNA repair	nucleoplasm	protein binding	g.chr15:89859631A>G	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"""Fanconi anemia, complementation groups"""	25568	protein-coding gene	gene with protein product		611360	"""KIAA1794"""	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.3928A>G	15.37:g.89859631A>G	ENSP00000310842:p.Thr1310Ala					FANCI_uc002bnm.1_Missense_Mutation_p.T1250A|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Missense_Mutation_p.T1070A|FANCI_uc002bnq.1_Missense_Mutation_p.T723A|POLG_uc002bns.3_3'UTR|POLG_uc002bnr.3_3'UTR	p.T1310A	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN			38	4018	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		1310					A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	ENST00000310775.7	37	c.3928A>G	CCDS45346.1	.	.	.	.	.	.	.	.	.	.	A	11.75	1.730488	0.30684	.	.	ENSG00000140525	ENST00000300027;ENST00000310775	T;T	0.69175	-0.38;-0.37	5.76	2.06	0.26882	.	0.579894	0.18314	N	0.145005	T	0.51295	0.1666	L	0.54323	1.7	0.29654	N	0.843754	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.38045	-0.9679	10	0.08599	T	0.76	-3.6577	4.5989	0.12343	0.6179:0.0:0.2351:0.147	.	1310;1249;1250	Q9NVI1;Q9NVI1-2;Q9NVI1-1	FANCI_HUMAN;.;.	A	1250;1310	ENSP00000300027:T1250A;ENSP00000310842:T1310A	ENSP00000300027:T1250A	T	+	1	0	FANCI	87660635	0.000000	0.05858	0.993000	0.49108	0.762000	0.43233	-0.053000	0.11846	0.425000	0.26087	0.533000	0.62120	ACT		0.398	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1	NM_018193	
NPIPB11	728888	broad.mit.edu	37	16	29415043	29415043	+	Silent	SNP	G	G	A	rs62035609		TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr16:29415043G>A	ENST00000524087.1	-	2	155	c.81C>T	c.(79-81)caC>caT	p.H27H	SNX29P2_ENST00000398878.3_lincRNA			E5RHQ5	NPB11_HUMAN	nuclear pore complex interacting protein family, member B11	27						integral component of membrane (GO:0016021)		p.H27H(24)									CTGACTTTACGTGCTGCTGCA	0.577																																						uc010vct.1																			24	Substitution - coding silent(24)		endometrium(22)|kidney(2)								c.(-16--12)CACGT>CATGT		RecName: Full=Nuclear pore complex-interacting protein-like 2; Flags: Precursor;																																				SO:0001819	synonymous_variant	0							g.chr16:29415043G>A			16p11.2	2013-06-11			ENSG00000254206	ENSG00000254206			37453	protein-coding gene	gene with protein product							Standard	XM_006721110		Approved			E5RHQ5	OTTHUMG00000170467	ENST00000524087.1:c.81C>T	16.37:g.29415043G>A						RUNDC2C_uc010bys.1_RNA								1	767	-									Translation_Start_Site	SNP	ENST00000524087.1	37	c.-14C>T																																																																																					0.577	NPIPB11-001	PUTATIVE	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000374094.1	XM_002343430	
ITGAM	3684	broad.mit.edu	37	16	31308885	31308885	+	Silent	SNP	C	C	T	rs377233362		TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr16:31308885C>T	ENST00000287497.8	+	13	1482	c.1407C>T	c.(1405-1407)aaC>aaT	p.N469N	ITGAM_ENST00000544665.3_Silent_p.N469N			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	469					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TGGACAGCAACGGCAGCACCG	0.637																																						uc002ebq.2																			0				kidney(1)	1						c.(1405-1407)AAC>AAT		integrin alpha M isoform 2 precursor		T	,	0,4386		0,0,2193	101.0	111.0	107.0		1407,1407	-4.9	0.0	16		107	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous	ITGAM	NM_000632.3,NM_001145808.1	,	0,1,6491	TT,TC,CC		0.0116,0.0,0.0077	,	469/1153,469/1154	31308885	1,12983	2193	4299	6492	SO:0001819	synonymous_variant	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31308885C>T	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.1407C>T	16.37:g.31308885C>T						ITGAM_uc002ebr.2_Silent_p.N469N|ITGAM_uc010cam.1_Missense_Mutation_p.R73W|ITGAM_uc010can.2_Translation_Start_Site	p.N469N	NM_000632	NP_000623	P11215	ITAM_HUMAN			13	1505	+			469			FG-GAP 5.|Extracellular (Potential).|Potential.		Q4VAK0|Q4VAK1|Q4VAK2	Silent	SNP	ENST00000287497.8	37	c.1407C>T	CCDS45470.1																																																																																				0.637	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632	
NOL3	8996	broad.mit.edu	37	16	67208778	67208778	+	Silent	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr16:67208778G>A	ENST00000568146.1	+	3	593	c.540G>A	c.(538-540)caG>caA	p.Q180Q	NOL3_ENST00000268605.7_Missense_Mutation_p.E184K|NOL3_ENST00000564053.1_Missense_Mutation_p.E246K|KIAA0895L_ENST00000563831.2_5'Flank|NOL3_ENST00000432069.2_Missense_Mutation_p.E184K			O60936	NOL3_HUMAN	nucleolar protein 3 (apoptosis repressor with CARD domain)	180					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		agcagaaccagagccggaact	0.642																																						uc010vjd.1																			0					0						c.(724-726)CAG>CAA		RecName: Full=Nucleolar protein 3; AltName: Full=Apoptosis repressor with CARD; AltName: Full=Muscle-enriched cytoplasmic protein;          Short=Myp; AltName: Full=Nucleolar protein of 30 kDa;          Short=Nop30;							27.0	38.0	35.0					16																	67208778		2079	4248	6327	SO:0001819	synonymous_variant	8996				anti-apoptosis|apoptosis|mRNA processing|RNA splicing	cytosol|nucleolus	identical protein binding|RNA binding	g.chr16:67208778G>A	AF043244	CCDS42176.1, CCDS58473.1, CCDS61960.1	16q22.1	2008-08-27				ENSG00000140939			7869	protein-coding gene	gene with protein product		605235				9560245	Standard	NM_001276312		Approved	ARC, NOP30, MYP, CARD2	uc010vjd.3	O60936		ENST00000568146.1:c.540G>A	16.37:g.67208778G>A						NOL3_uc010vjc.1_Missense_Mutation_p.E246K|NOL3_uc002erp.2_Missense_Mutation_p.E184K	p.Q242Q			O60936	NOL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	3	733	+		Ovarian(137;0.192)	180					B4DFL0|O60937	Silent	SNP	ENST00000568146.1	37	c.726G>A	CCDS58473.1	.	.	.	.	.	.	.	.	.	.	g	22.3	4.271428	0.80469	.	.	ENSG00000140939	ENST00000432069;ENST00000268605	T;T	0.78126	-1.15;-1.15	4.81	4.81	0.61882	.	5.286660	0.00682	N	0.000687	D	0.86456	0.5937	.	.	.	0.34885	D	0.74491	D	0.67145	0.996	P	0.57679	0.825	T	0.74426	-0.3669	9	0.52906	T	0.07	-6.8523	13.7116	0.62672	0.0:0.0:1.0:0.0	.	246	B4DFL0	.	K	184	ENSP00000399831:E184K;ENSP00000268605:E184K	ENSP00000268605:E184K	E	+	1	0	NOL3	65766279	0.091000	0.21658	0.868000	0.34077	0.263000	0.26337	1.883000	0.39658	2.371000	0.80710	0.457000	0.33378	GAG		0.642	NOL3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422746.1		
KCTD19	146212	broad.mit.edu	37	16	67337179	67337179	+	Silent	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr16:67337179C>T	ENST00000304372.5	-	4	568	c.513G>A	c.(511-513)gaG>gaA	p.E171E	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	171					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		AGTAGTGCACCTCCTCTTCTG	0.567																																						uc002esu.2																			0				skin(1)	1						c.(511-513)GAG>GAA		potassium channel tetramerisation domain							92.0	93.0	93.0					16																	67337179		2085	4218	6303	SO:0001819	synonymous_variant	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67337179C>T	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.513G>A	16.37:g.67337179C>T						KCTD19_uc002est.2_5'UTR|KCTD19_uc010vjj.1_5'UTR	p.E171E	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	4	564	-		Ovarian(137;0.192)	171					B4DZ49|Q8N804	Silent	SNP	ENST00000304372.5	37	c.513G>A	CCDS42179.1																																																																																				0.567	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367	
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)	uc002gim.2	R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)CGG>CAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q	p.R248Q	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	937	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	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	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
THEG	51298	broad.mit.edu	37	19	367156	367156	+	Silent	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr19:367156C>T	ENST00000342640.4	-	7	864	c.822G>A	c.(820-822)ccG>ccA	p.P274P	THEG_ENST00000346878.2_Silent_p.P250P	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	274					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGGGCCTTCGGCTTTGACA	0.572																																						uc002lol.2																			0				ovary(1)	1						c.(820-822)CCG>CCA		Theg homolog isoform 1							106.0	108.0	107.0					19																	367156		2203	4300	6503	SO:0001819	synonymous_variant	51298				cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	g.chr19:367156C>T	AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"""cancer/testis antigen 56"""	609503	"""Theg homolog (mouse)"""			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.822G>A	19.37:g.367156C>T						THEG_uc002lom.2_Silent_p.P250P	p.P274P	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	861	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	274			THEG 4.		A6NMJ8	Silent	SNP	ENST00000342640.4	37	c.822G>A	CCDS12025.1	.	.	.	.	.	.	.	.	.	.	C	1.373	-0.585484	0.03827	.	.	ENSG00000105549	ENST00000530711	.	.	.	3.32	-1.41	0.08941	.	.	.	.	.	T	0.28466	0.0704	.	.	.	0.23101	N	0.998292	.	.	.	.	.	.	T	0.36578	-0.9742	5	0.87932	D	0	1.252	1.1562	0.01797	0.21:0.3264:0.2965:0.1671	.	.	.	.	Q	52	.	ENSP00000431699:R52Q	R	-	2	0	THEG	318156	0.916000	0.31088	0.087000	0.20705	0.006000	0.05464	0.645000	0.24782	-0.410000	0.07542	-2.419000	0.00218	CGA		0.572	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2		
ELSPBP1	64100	broad.mit.edu	37	19	48511941	48511941	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr19:48511941G>C	ENST00000339841.2	+	2	195	c.17G>C	c.(16-18)aGt>aCt	p.S6T	ELSPBP1_ENST00000597519.1_Missense_Mutation_p.S6T	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	6					single fertilization (GO:0007338)	extracellular region (GO:0005576)				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		CGATGGTCCAGTTACCTGTTG	0.468																																						uc002pht.2																			0					0						c.(16-18)AGT>ACT		epididymal sperm binding protein 1 precursor							113.0	86.0	95.0					19																	48511941		2203	4300	6503	SO:0001583	missense	64100				single fertilization	extracellular region		g.chr19:48511941G>C	AJ278478	CCDS12708.1	19q13.33	2009-09-17							14417	protein-coding gene	gene with protein product	"""epididymal protein 12"""	607443					Standard	NM_022142		Approved	HE12, E12, EDDM12	uc002pht.3	Q96BH3		ENST00000339841.2:c.17G>C	19.37:g.48511941G>C	ENSP00000340660:p.Ser6Thr						p.S6T	NM_022142	NP_071425	Q96BH3	ESPB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)	2	172	+		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)	6					Q96RT0|Q9H4C8	Missense_Mutation	SNP	ENST00000339841.2	37	c.17G>C	CCDS12708.1	.	.	.	.	.	.	.	.	.	.	g	11.39	1.625538	0.28889	.	.	ENSG00000169393	ENST00000339841	T	0.33654	1.4	2.41	1.32	0.21799	.	0.583964	0.14391	N	0.322538	T	0.25005	0.0607	L	0.44542	1.39	0.09310	N	0.999994	B	0.14438	0.01	B	0.09377	0.004	T	0.21861	-1.0233	10	0.17832	T	0.49	.	6.9224	0.24395	0.0:0.2895:0.7105:0.0	.	6	Q96BH3	ESPB1_HUMAN	T	6	ENSP00000340660:S6T	ENSP00000340660:S6T	S	+	2	0	ELSPBP1	53203753	0.990000	0.36364	0.906000	0.35671	0.667000	0.39255	1.179000	0.31993	0.547000	0.28938	0.509000	0.49947	AGT		0.468	ELSPBP1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465207.1		
TNNT1	7138	broad.mit.edu	37	19	55648471	55648471	+	Splice_Site	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr19:55648471C>T	ENST00000588981.1	-	11	815	c.611G>A	c.(610-612)cGg>cAg	p.R204Q	TNNT1_ENST00000587465.2_Splice_Site_p.R134Q|TNNT1_ENST00000588426.1_Splice_Site_p.R101Q|TNNT1_ENST00000592920.1_5'Flank|TNNT1_ENST00000356783.5_Splice_Site_p.R193Q|TNNT1_ENST00000587758.1_Splice_Site_p.R193Q|TNNT1_ENST00000291901.8_Splice_Site_p.R204Q|TNNT1_ENST00000585321.2_Splice_Site_p.R134Q|TNNT1_ENST00000536926.1_Splice_Site_p.R193Q	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	204					muscle filament sliding (GO:0030049)|negative regulation of muscle contraction (GO:0045932)|skeletal muscle contraction (GO:0003009)|slow-twitch skeletal muscle fiber contraction (GO:0031444)	cytosol (GO:0005829)|troponin complex (GO:0005861)	tropomyosin binding (GO:0005523)			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		CAGCACCTACCGGAGCTGTTC	0.622																																						uc002qjb.3																			0				ovary(1)	1						c.(610-612)CGG>CAG		troponin T1, skeletal, slow isoform a							46.0	41.0	42.0					19																	55648471		2203	4300	6503	SO:0001630	splice_region_variant	7138				muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding	g.chr19:55648471C>T		CCDS12917.1, CCDS46185.1, CCDS59421.1	19q13.4	2014-09-17	2005-09-12			ENSG00000105048			11948	protein-coding gene	gene with protein product	"""slow skeletal muscle troponin T"", ""troponin T1, skeletal, slow"", ""nemaline myopathy type 5"""	191041	"""troponin T1, skeletal, slow"""			1505979	Standard	XM_006723343		Approved	ANM, STNT, TNT, TNTS, FLJ98147, MGC104241, NEM5	uc002qjb.4	P13805		ENST00000588981.1:c.611+1G>A	19.37:g.55648471C>T						TNNT1_uc002qiz.3_Missense_Mutation_p.R134Q|TNNT1_uc002qja.3_Missense_Mutation_p.R134Q|TNNT1_uc002qjc.3_Missense_Mutation_p.R204Q|TNNT1_uc002qje.3_Missense_Mutation_p.R193Q|TNNT1_uc002qjd.3_Missense_Mutation_p.R193Q	p.R204Q	NM_003283	NP_003274	P13805	TNNT1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)	11	700	-			204					O95472|Q16061|Q5U0E1	Missense_Mutation	SNP	ENST00000588981.1	37	c.611G>A	CCDS12917.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452710	0.63290	.	.	ENSG00000105048	ENST00000291901;ENST00000356783;ENST00000536926;ENST00000537693	D;D;D	0.96073	-3.9;-3.9;-3.9	3.62	3.62	0.41486	.	.	.	.	.	D	0.96574	0.8882	M	0.70842	2.15	0.58432	D	0.999995	D;D;P;D	0.76494	0.999;0.999;0.913;0.999	P;P;P;P	0.61940	0.896;0.896;0.553;0.896	D	0.96111	0.9077	8	.	.	.	-7.8203	13.1568	0.59522	0.0:1.0:0.0:0.0	.	193;204;204;193	P13805-2;P13805-3;P13805;F5H1H4	.;.;TNNT1_HUMAN;.	Q	204;193;193;134	ENSP00000291901:R204Q;ENSP00000349233:R193Q;ENSP00000439640:R193Q	.	R	-	2	0	TNNT1	60340283	1.000000	0.71417	0.998000	0.56505	0.721000	0.41392	2.119000	0.41958	1.751000	0.51876	0.484000	0.47621	CGG		0.622	TNNT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451825.2	NM_003283	Missense_Mutation
PEG3	5178	broad.mit.edu	37	19	57327999	57327999	+	Missense_Mutation	SNP	C	C	T	rs200022665		TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr19:57327999C>T	ENST00000326441.9	-	10	2174	c.1811G>A	c.(1810-1812)cGc>cAc	p.R604H	PEG3_ENST00000423103.2_Missense_Mutation_p.R604H|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R480H|PEG3_ENST00000593695.1_Missense_Mutation_p.R478H|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	604					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R604H(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGTTTCCCCGCGCtcacgttc	0.458																																						uc002qnu.2																			1	Substitution - Missense(1)	p.R604H(1)	pancreas(1)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(1810-1812)CGC>CAC		paternally expressed 3 isoform 1		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,,,HIS/ARG,	0,4406		0,0,2203	89.0	74.0	79.0		1811,1433,1811,1439,,,1811,	-0.0	0.0	19		79	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense,intron,intron,missense,intron	PEG3,ZIM2	NM_001146184.1,NM_001146185.1,NM_001146186.1,NM_001146187.1,NM_001146326.1,NM_001146327.1,NM_006210.2,NM_015363.4	29,29,29,29,,,29,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign,benign,,,benign,	604/1589,478/1463,604/1589,480/1465,,,604/1589,	57327999	2,13004	2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57327999C>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1811G>A	19.37:g.57327999C>T	ENSP00000326581:p.Arg604His					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.R575H|PEG3_uc002qnv.2_Missense_Mutation_p.R604H|PEG3_uc002qnw.2_Missense_Mutation_p.R480H|PEG3_uc002qnx.2_Missense_Mutation_p.R478H|PEG3_uc010etr.2_Missense_Mutation_p.R604H	p.R604H	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	2162	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	604					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.1811G>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	7.199	0.593156	0.13875	0.0	2.33E-4	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02682	4.2;4.2	4.0	-0.04	0.13873	.	.	.	.	.	T	0.02230	0.0069	N	0.22421	0.69	.	.	.	B;B;B	0.12630	0.006;0.003;0.006	B;B;B	0.06405	0.002;0.001;0.001	T	0.33111	-0.9881	8	0.87932	D	0	-7.3429	5.4682	0.16656	0.1673:0.6686:0.0:0.1641	.	480;604;539	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	H	604	ENSP00000326581:R604H;ENSP00000403051:R604H	ENSP00000326581:R604H	R	-	2	0	ZIM2	62019811	0.003000	0.15002	0.000000	0.03702	0.008000	0.06430	0.774000	0.26675	0.057000	0.16193	0.650000	0.86243	CGC		0.458	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2		
CD207	50489	broad.mit.edu	37	2	71060827	71060827	+	Missense_Mutation	SNP	C	C	T	rs567546839	byFrequency	TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr2:71060827C>T	ENST00000410009.3	-	3	560	c.515G>A	c.(514-516)cGg>cAg	p.R172Q		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	172					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						CTGGAGTGCCCGGATCTTTGT	0.428													C|||	13	0.00259585	0.0	0.0	5008	,	,		20139	0.0		0.0	False		,,,				2504	0.0133					uc002shg.2																			0				ovary(1)|lung(1)	2						c.(514-516)CGG>CAG		CD207 antigen, langerin							81.0	72.0	75.0					2																	71060827		1862	4104	5966	SO:0001583	missense	50489				defense response to virus	endocytic vesicle|integral to membrane	mannose binding	g.chr2:71060827C>T	AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"""C-type lectin domain containing"", ""CD molecules"""	17935	protein-coding gene	gene with protein product		604862	"""CD207 antigen, langerin"""			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.515G>A	2.37:g.71060827C>T	ENSP00000386378:p.Arg172Gln						p.R172Q	NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN			3	562	-			172			Potential.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000410009.3	37	c.515G>A		.	.	.	.	.	.	.	.	.	.	C	0.319	-0.962903	0.02249	.	.	ENSG00000116031	ENST00000410009	T	0.28069	1.63	4.12	-3.86	0.04230	.	1.382280	0.04510	N	0.382668	T	0.12263	0.0298	N	0.04245	-0.25	0.09310	N	1	B	0.14012	0.009	B	0.01281	0.0	T	0.21552	-1.0242	10	0.15499	T	0.54	.	6.1748	0.20437	0.1481:0.2122:0.0:0.6397	.	172	Q9UJ71	CLC4K_HUMAN	Q	172	ENSP00000386378:R172Q	ENSP00000386378:R172Q	R	-	2	0	CD207	70914335	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.572000	0.05881	-0.912000	0.03837	-0.181000	0.13052	CGG		0.428	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4	NM_015717	
TBC1D8	11138	broad.mit.edu	37	2	101655055	101655055	+	Silent	SNP	G	G	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr2:101655055G>T	ENST00000376840.4	-	7	1097	c.1098C>A	c.(1096-1098)atC>atA	p.I366I	TBC1D8_ENST00000409318.1_Silent_p.I381I			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	366					blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CCTTGCTTCTGATACTGACAA	0.612																																						uc010fiv.2																			0				ovary(3)	3						c.(1096-1098)ATC>ATA		TBC1 domain family, member 8							130.0	139.0	136.0					2																	101655055		2141	4242	6383	SO:0001819	synonymous_variant	11138				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity	g.chr2:101655055G>T	AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"""BUB2-like protein 1"", ""vascular Rab-GAP/TBC-containing protein"""					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.1098C>A	2.37:g.101655055G>T						TBC1D8_uc010yvw.1_Silent_p.I381I|TBC1D8_uc002tau.3_Silent_p.I123I	p.I366I	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN			7	1229	-			366					A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Silent	SNP	ENST00000376840.4	37	c.1098C>A	CCDS46375.1																																																																																				0.612	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	NM_007063	
LRP1B	53353	broad.mit.edu	37	2	141597647	141597647	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr2:141597647A>T	ENST00000389484.3	-	31	6093	c.5122T>A	c.(5122-5124)Tac>Aac	p.Y1708N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1708					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCGGTCCAGTAGAGTTTTCTT	0.318										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(5122-5124)TAC>AAC		low density lipoprotein-related protein 1B							75.0	70.0	71.0					2																	141597647		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141597647A>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5122T>A	2.37:g.141597647A>T	ENSP00000374135:p.Tyr1708Asn	TSP Lung(27;0.18)					p.Y1708N	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	31	6094	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1708			Extracellular (Potential).|LDL-receptor class B 16.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.5122T>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.557492	0.86231	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.94092	-3.35	5.5	5.5	0.81552	Six-bladed beta-propeller, TolB-like (1);	0.082057	0.51477	U	0.000096	D	0.96784	0.8950	M	0.93241	3.395	0.54753	D	0.99998	D	0.61080	0.989	P	0.55087	0.768	D	0.97707	1.0188	10	0.87932	D	0	.	15.5873	0.76495	1.0:0.0:0.0:0.0	.	1708	Q9NZR2	LRP1B_HUMAN	N	1708;1646	ENSP00000374135:Y1708N	ENSP00000374135:Y1708N	Y	-	1	0	LRP1B	141314117	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.852000	0.92215	2.087000	0.62958	0.377000	0.23210	TAC		0.318	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101								p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358																																						uc010ztl.1																			2	Substitution - Missense(2)		prostate(2)		0						c.(211-213)AGT>AAT		Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA.																																				SO:0001583	missense	284802							g.chr20:29628300G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.302G>A	20.37:g.29628300G>A	ENSP00000278882:p.Ser101Asn					FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Missense_Mutation_p.S23N	p.S71N							3	244	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.212G>A		.	.	.	.	.	.	.	.	.	.	g	10.56	1.384968	0.25031	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.125588	0.64402	N	0.000001	T	0.33265	0.0857	.	.	.	0.40357	D	0.979199	B;B	0.16802	0.003;0.019	B;B	0.16289	0.007;0.015	T	0.20605	-1.0270	9	0.33940	T	0.23	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	106;101	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	N	101;106;101	ENSP00000408863:S106N	ENSP00000278882:S101N	S	+	2	0	FRG1B	28241961	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.004000	0.40854	1.475000	0.48197	0.423000	0.28283	AGT		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	
CHD6	84181	broad.mit.edu	37	20	40045338	40045338	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr20:40045338G>A	ENST00000373233.3	-	33	6553	c.6376C>T	c.(6376-6378)Ccc>Tcc	p.P2126S	CHD6_ENST00000480022.1_5'Flank	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2126					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				ACCGGGGTGGGCAGTGTGCCT	0.572																																						uc002xka.1																			0				ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14						c.(6376-6378)CCC>TCC		chromodomain helicase DNA binding protein 6							59.0	51.0	54.0					20																	40045338		2203	4300	6503	SO:0001583	missense	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40045338G>A	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.6376C>T	20.37:g.40045338G>A	ENSP00000362330:p.Pro2126Ser					CHD6_uc002xjz.1_5'Flank	p.P2126S	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			33	6554	-		Myeloproliferative disorder(115;0.00425)	2126					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.6376C>T	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.271574	0.23221	.	.	ENSG00000124177	ENST00000373233	D	0.86694	-2.16	5.57	2.58	0.30949	.	0.310946	0.28225	N	0.016134	D	0.82536	0.5058	M	0.72894	2.215	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.74717	-0.3571	10	0.48119	T	0.1	-2.866	3.7854	0.08698	0.1965:0.112:0.5761:0.1154	.	2126	Q8TD26	CHD6_HUMAN	S	2126	ENSP00000362330:P2126S	ENSP00000362330:P2126S	P	-	1	0	CHD6	39478752	0.991000	0.36638	0.510000	0.27712	0.387000	0.30353	0.877000	0.28106	0.404000	0.25506	0.655000	0.94253	CCC		0.572	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1		
L3MBTL1	26013	broad.mit.edu	37	20	42163558	42163558	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr20:42163558delG	ENST00000427442.2	+	16	1894	c.1735delG	c.(1735-1737)ggafs	p.G579fs	L3MBTL1_ENST00000373134.1_Frame_Shift_Del_p.G511fs|L3MBTL1_ENST00000418998.1_Frame_Shift_Del_p.G579fs|L3MBTL1_ENST00000444063.1_Frame_Shift_Del_p.G511fs|L3MBTL1_ENST00000373135.3_Frame_Shift_Del_p.G511fs			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	511					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						CTCCAAGACAGGACATCCCCT	0.557																																						uc010zwh.1																			0					0						c.(1735-1737)GGAfs		l(3)mbt-like isoform I							85.0	70.0	75.0					20																	42163558		2203	4300	6503	SO:0001589	frameshift_variant	26013				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:42163558delG	U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"""Zinc fingers, C2HC-type containing"", ""Sterile alpha motif (SAM) domain containing"""	15905	protein-coding gene	gene with protein product	"""lethal (3) malignant brain tumor l(3)"""	608802	"""l(3)mbt (Drosophila)-like"", ""l(3)mbt-like (Drosophila)"""	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.1735delG	20.37:g.42163558delG	ENSP00000402107:p.Gly579fs					L3MBTL_uc002xkl.2_Frame_Shift_Del_p.G511fs|L3MBTL_uc002xkm.2_Frame_Shift_Del_p.G511fs|L3MBTL_uc010ggl.2_Frame_Shift_Del_p.G511fs|L3MBTL_uc002xkn.1_Frame_Shift_Del_p.G270fs|L3MBTL_uc002xko.2_Frame_Shift_Del_p.G163fs	p.G579fs	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		16	1781	+		Myeloproliferative disorder(115;0.00452)	511			MBT 3.		B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Frame_Shift_Del	DEL	ENST00000427442.2	37	c.1735delG	CCDS46602.2																																																																																				0.557	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3	NM_032107	
TNFRSF6B	8771	broad.mit.edu	37	20	62326129	62326129	+	5'Flank	SNP	G	G	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr20:62326129G>T	ENST00000369996.1	+	0	0				RTEL1_ENST00000360203.5_Missense_Mutation_p.V1049L|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.V1049L|RTEL1_ENST00000370003.1_Missense_Mutation_p.V294L|RTEL1_ENST00000318100.4_Missense_Mutation_p.V1049L|RTEL1_ENST00000508582.2_Missense_Mutation_p.V1073L|RTEL1_ENST00000370018.3_Missense_Mutation_p.V1049L	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy						apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	extracellular space (GO:0005615)	receptor activity (GO:0004872)			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			GGGGTCTGGAGTGCCCAGAGC	0.687																																						uc002yfu.1																			0					0						c.(3145-3147)GTG>TTG		regulator of telomere elongation helicase 1							24.0	31.0	29.0					20																	62326129		2168	4275	6443	SO:0001631	upstream_gene_variant	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62326129G>T	AF104419	CCDS13532.1	20q13.33	2012-06-27						"""Tumor necrosis factor receptor superfamily"""	11921	protein-coding gene	gene with protein product		603361				9872321, 10318773	Standard	NM_003823		Approved	DcR3, DCR3, TR6, M68	uc002yfz.3	O95407	OTTHUMG00000143724		20.37:g.62326129G>T	Exception_encountered					RTEL1_uc011abc.1_RNA|RTEL1_uc002yft.1_Missense_Mutation_p.V1049L|RTEL1_uc011abd.1_Missense_Mutation_p.V1073L|RTEL1_uc011abe.1_Missense_Mutation_p.V826L|RTEL1_uc002yfw.2_RNA|RTEL1_uc002yfx.1_Missense_Mutation_p.V294L|TNFRSF6B_uc002yfy.2_5'Flank|TNFRSF6B_uc002yfz.2_5'Flank	p.V1049L	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		32	3488	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		1049						Missense_Mutation	SNP	ENST00000369996.1	37	c.3145G>T	CCDS13532.1	.	.	.	.	.	.	.	.	.	.	G	7.002	0.555080	0.13436	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000370003	T;D;T;T;T	0.81579	-1.49;-1.51;-1.44;-1.49;0.93	2.71	1.31	0.21738	.	21.172100	0.00166	N	0.000000	T	0.64724	0.2624	N	0.08118	0	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.09377	0.001;0.0;0.004;0.0	T	0.56492	-0.7970	10	0.44086	T	0.13	.	5.6655	0.17693	0.2245:0.0:0.7755:0.0	.	1073;294;1049;1049	Q9NZ71-7;Q9NZ71-5;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	L	1049;1049;1073;1049;294	ENSP00000359035:V1049L;ENSP00000322287:V1049L;ENSP00000424307:V1073L;ENSP00000353332:V1049L;ENSP00000359020:V294L	ENSP00000353332:V1049L	V	+	1	0	AL353715.1	61796573	0.058000	0.20735	0.001000	0.08648	0.008000	0.06430	2.508000	0.45450	1.052000	0.40392	0.313000	0.20887	GTG		0.687	TNFRSF6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080182.1		
ARL8B	55207	broad.mit.edu	37	3	5214343	5214343	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr3:5214343A>G	ENST00000256496.3	+	4	536	c.290A>G	c.(289-291)gAt>gGt	p.D97G	AC026202.3_ENST00000439325.1_RNA|ARL8B_ENST00000468010.1_Intron|ARL8B_ENST00000419534.2_Missense_Mutation_p.D97G	NM_018184.2	NP_060654.1	Q9NVJ2	ARL8B_HUMAN	ADP-ribosylation factor-like 8B	97					cell cycle (GO:0007049)|cell division (GO:0051301)|chromosome segregation (GO:0007059)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|membrane (GO:0016020)|midbody (GO:0030496)|spindle midzone (GO:0051233)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0717)|Epithelial(13;0.0777)		TACATGATAGATGCTGCAGAT	0.323																																						uc003bqg.2																			0					0						c.(289-291)GAT>GGT		ADP-ribosylation factor-like 10C							68.0	69.0	68.0					3																	5214343		2203	4296	6499	SO:0001583	missense	55207				cell cycle|cell division|chromosome segregation|small GTPase mediated signal transduction	late endosome membrane|lysosomal membrane|midbody|spindle midzone	alpha-tubulin binding|beta-tubulin binding|GDP binding|GTP binding|GTPase activity	g.chr3:5214343A>G	AK001564	CCDS2566.1	3p26.1	2014-05-09	2005-11-03	2005-11-03	ENSG00000134108	ENSG00000134108		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	25564	protein-coding gene	gene with protein product			"""ADP-ribosylation factor-like 10C"""	ARL10C		12477932	Standard	NM_018184		Approved	FLJ10702, Gie1	uc003bqg.3	Q9NVJ2	OTTHUMG00000090463	ENST00000256496.3:c.290A>G	3.37:g.5214343A>G	ENSP00000256496:p.Asp97Gly					ARL8B_uc011asx.1_Missense_Mutation_p.D88G|ARL8B_uc011asy.1_Missense_Mutation_p.D97G	p.D97G	NM_018184	NP_060654	Q9NVJ2	ARL8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0717)|Epithelial(13;0.0777)	4	511	+			97					B4DI85	Missense_Mutation	SNP	ENST00000256496.3	37	c.290A>G	CCDS2566.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.864670	0.91511	.	.	ENSG00000134108	ENST00000256496;ENST00000438743;ENST00000419534	T;T	0.79845	-1.31;-1.31	5.46	5.46	0.80206	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.94489	0.8226	H	0.99379	4.54	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96947	0.9692	10	0.87932	D	0	-2.6141	15.5254	0.75901	1.0:0.0:0.0:0.0	.	97;88;97	B4DI85;B4DQT8;Q9NVJ2	.;.;ARL8B_HUMAN	G	97;149;97	ENSP00000256496:D97G;ENSP00000402996:D97G	ENSP00000256496:D97G	D	+	2	0	ARL8B	5189343	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.999000	0.93557	2.067000	0.61834	0.383000	0.25322	GAT		0.323	ARL8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206910.2	NM_018184	
ITGA9	3680	broad.mit.edu	37	3	37547525	37547525	+	Silent	SNP	G	G	A	rs145062473	byFrequency	TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr3:37547525G>A	ENST00000264741.5	+	7	1033	c.777G>A	c.(775-777)ccG>ccA	p.P259P	ITGA9_ENST00000422441.1_Silent_p.P259P	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	259					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.P259P(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TCTCTCACCCGTCCACCATTG	0.537													G|||	3	0.000599042	0.0	0.0014	5008	,	,		20348	0.0		0.001	False		,,,				2504	0.001					uc003chd.2																			1	Substitution - coding silent(1)		endometrium(1)	breast(3)|pancreas(1)|lung(1)|skin(1)	6						c.(775-777)CCG>CCA		integrin, alpha 9 precursor		G		0,4406		0,0,2203	63.0	49.0	54.0		777	-9.0	0.0	3	dbSNP_134	54	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ITGA9	NM_002207.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		259/1036	37547525	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3680				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr3:37547525G>A	L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"""Integrins"""	6145	protein-coding gene	gene with protein product	"""integrin, alpha 4-like"""	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.777G>A	3.37:g.37547525G>A						ITGA9_uc003chc.2_Silent_p.P259P	p.P259P	NM_002207	NP_002198	Q13797	ITA9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)	7	830	+			259			Extracellular (Potential).|FG-GAP 4.		Q14638	Silent	SNP	ENST00000264741.5	37	c.777G>A	CCDS2669.1																																																																																				0.537	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1	NM_002207	
CELSR3	1951	broad.mit.edu	37	3	48679336	48679336	+	Missense_Mutation	SNP	T	T	G	rs199889115		TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr3:48679336T>G	ENST00000164024.4	-	32	9052	c.8772A>C	c.(8770-8772)caA>caC	p.Q2924H	MIR4793_ENST00000577502.1_RNA|CELSR3_ENST00000544264.1_Missense_Mutation_p.Q2929H	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2924					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGAGTGGCCGTTGGAAGCGCC	0.622																																						uc003cul.2																			0				ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(8770-8772)CAA>CAC		cadherin EGF LAG seven-pass G-type receptor 3							14.0	16.0	15.0					3																	48679336		2192	4285	6477	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48679336T>G	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.8772A>C	3.37:g.48679336T>G	ENSP00000164024:p.Gln2924His					CELSR3_uc003cuf.1_Missense_Mutation_p.Q3022H|CELSR3_uc010hkf.2_Missense_Mutation_p.Q214H|CELSR3_uc010hkg.2_Missense_Mutation_p.Q907H	p.Q2924H	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	32	9053	-			2924			Cytoplasmic (Potential).		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.8772A>C	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	T	14.08	2.429594	0.43122	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.70399	-0.48;-0.48	5.03	2.76	0.32466	.	.	.	.	.	T	0.75517	0.3860	M	0.64997	1.995	0.44201	D	0.997028	B;B;D	0.67145	0.001;0.0;0.996	B;B;P	0.59703	0.003;0.001;0.862	T	0.71283	-0.4639	9	0.38643	T	0.18	.	8.4937	0.33115	0.0:0.6944:0.0:0.3056	.	2929;2924;3022	Q9NYQ7-2;Q9NYQ7;Q5Y190	.;CELR3_HUMAN;.	H	2924;2929	ENSP00000164024:Q2924H;ENSP00000445694:Q2929H	ENSP00000164024:Q2924H	Q	-	3	2	CELSR3	48654340	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	1.381000	0.34362	0.378000	0.24764	-0.385000	0.06624	CAA		0.622	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407	
MAGI1	9223	broad.mit.edu	37	3	65376868	65376868	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr3:65376868G>T	ENST00000497477.2	-	14	2364	c.2365C>A	c.(2365-2367)Cca>Aca	p.P789T	MAGI1_ENST00000330909.8_Missense_Mutation_p.P789T|MAGI1_ENST00000483466.1_Missense_Mutation_p.P789T|MAGI1_ENST00000402939.2_Missense_Mutation_p.P789T			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	789					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)	p.P789T(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		AAAGGATCTGGTTTTTTCTGG	0.567																																						uc003dmn.2																			2	Substitution - Missense(2)		large_intestine(2)	lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6						c.(2365-2367)CCA>ACA		membrane associated guanylate kinase, WW and PDZ							96.0	96.0	96.0					3																	65376868		2203	4300	6503	SO:0001583	missense	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65376868G>T	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.2365C>A	3.37:g.65376868G>T	ENSP00000424369:p.Pro789Thr					MAGI1_uc003dmm.2_Missense_Mutation_p.P789T|MAGI1_uc003dmo.2_Missense_Mutation_p.P789T|MAGI1_uc003dmp.2_Missense_Mutation_p.P789T|MAGI1_uc010hnx.1_Missense_Mutation_p.P72T	p.P789T	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	14	2891	-		Lung NSC(201;0.0016)	789					A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000497477.2	37	c.2365C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.3|24.3	4.516730|4.516730	0.85495|0.85495	.|.	.|.	ENSG00000151276|ENSG00000151276	ENST00000460329|ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257	.|T;T;T;T;T;T	.|0.24908	.|2.42;2.21;2.21;2.22;1.83;2.02	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	.|0.103697	.|0.64402	.|D	.|0.000002	T|T	0.51278|0.51278	0.1665|0.1665	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	.|D;B;D;D;D	.|0.89917	.|0.998;0.033;1.0;1.0;0.998	.|D;B;D;D;D	.|0.87578	.|0.96;0.04;0.992;0.998;0.974	T|T	0.20472|0.20472	-1.0274|-1.0274	5|10	.|0.35671	.|T	.|0.21	-8.0913|-8.0913	20.5407|20.5407	0.99260|0.99260	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|789;789;789;789;789	.|A8K188;Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5	.|.;.;.;.;.	K|T	669|789;789;685;664;789;789;575	.|ENSP00000385450:P789T;ENSP00000331157:P789T;ENSP00000418177:P664T;ENSP00000420323:P789T;ENSP00000424369:P789T;ENSP00000420796:P575T	.|ENSP00000331157:P789T	N|P	-|-	3|1	2|0	MAGI1|MAGI1	65351908|65351908	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	9.476000|9.476000	0.97823|0.97823	2.865000|2.865000	0.98341|0.98341	0.655000|0.655000	0.94253|0.94253	AAC|CCA		0.567	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742	
HSPBAP1	79663	broad.mit.edu	37	3	122459902	122459902	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr3:122459902A>G	ENST00000306103.2	-	7	1027	c.884T>C	c.(883-885)cTg>cCg	p.L295P	HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	295						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		TGCAGTTTTCAGGGCACACAC	0.458																																						uc003efu.1																			0				ovary(1)|lung(1)	2						c.(883-885)CTG>CCG		Hspb associated protein 1							131.0	134.0	133.0					3																	122459902		2203	4300	6503	SO:0001583	missense	79663					cytoplasm		g.chr3:122459902A>G	AF400663	CCDS3017.1	3q21.1	2008-07-18	2002-08-29		ENSG00000169087	ENSG00000169087			16389	protein-coding gene	gene with protein product		608263	"""HSPB (heat shock 27kD) associated protein 1"""			11978969	Standard	NM_024610		Approved	FLJ22623, PASS1	uc003efu.2	Q96EW2	OTTHUMG00000159550	ENST00000306103.2:c.884T>C	3.37:g.122459902A>G	ENSP00000302562:p.Leu295Pro					HSPBAP1_uc003eft.1_Missense_Mutation_p.L6P	p.L295P	NM_024610	NP_078886	Q96EW2	HBAP1_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	7	1007	-			295					Q6P476|Q8N8J4|Q8NHH6|Q8WWF0	Missense_Mutation	SNP	ENST00000306103.2	37	c.884T>C	CCDS3017.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.982562	0.74474	.	.	ENSG00000169087	ENST00000306103	T	0.13196	2.61	5.23	5.23	0.72850	Cupin, JmjC-type (1);	0.467951	0.21435	N	0.074600	T	0.29355	0.0731	M	0.64997	1.995	0.80722	D	1	D	0.69078	0.997	P	0.58077	0.832	T	0.01591	-1.1317	10	0.87932	D	0	.	12.9943	0.58638	1.0:0.0:0.0:0.0	.	295	Q96EW2	HBAP1_HUMAN	P	295	ENSP00000302562:L295P	ENSP00000302562:L295P	L	-	2	0	HSPBAP1	123942592	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	5.530000	0.67141	2.201000	0.70794	0.533000	0.62120	CTG		0.458	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356161.1	NM_024610	
YEATS2	55689	broad.mit.edu	37	3	183454552	183454552	+	Missense_Mutation	SNP	G	G	A	rs200810151		TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr3:183454552G>A	ENST00000305135.5	+	8	1054	c.859G>A	c.(859-861)Gtc>Atc	p.V287I		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	287	YEATS. {ECO:0000255|PROSITE- ProRule:PRU00376}.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TGAGTTTCCCGTCAGAGTTCA	0.418																																						uc003fly.2																			0				ovary(3)|large_intestine(1)	4						c.(859-861)GTC>ATC		YEATS domain containing 2		G	ILE/VAL	2,3702		0,2,1850	137.0	128.0	131.0		859	5.5	1.0	3		131	0,8210		0,0,4105	no	missense	YEATS2	NM_018023.4	29	0,2,5955	AA,AG,GG		0.0,0.054,0.0168	possibly-damaging	287/1423	183454552	2,11912	1852	4105	5957	SO:0001583	missense	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183454552G>A	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.859G>A	3.37:g.183454552G>A	ENSP00000306983:p.Val287Ile						p.V287I	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		8	1054	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		287			YEATS.		A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	c.859G>A	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.036457	0.93630	5.4E-4	0.0	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.18338	2.22	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000003	T	0.15046	0.0363	N	0.04043	-0.29	0.80722	D	1	P	0.45986	0.87	P	0.49953	0.627	T	0.29852	-0.9998	10	0.23891	T	0.37	-21.7388	19.4699	0.94959	0.0:0.0:1.0:0.0	.	287	Q9ULM3	YETS2_HUMAN	I	287	ENSP00000306983:V287I	ENSP00000306983:V287I	V	+	1	0	YEATS2	184937246	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.528000	0.98046	2.591000	0.87537	0.650000	0.86243	GTC		0.418	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023	
PDGFRA	5156	broad.mit.edu	37	4	55133562	55133562	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr4:55133562A>G	ENST00000257290.5	+	6	1197	c.866A>G	c.(865-867)gAa>gGa	p.E289G	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	289	Ig-like C2-type 3.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	GGAGATTACGAATGTGCTGCC	0.468			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	uc003han.3				Dom	yes		4	4q11-q13	5156	Mis|O|T	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		GIST|idiopathic hypereosinophilic syndrome		0				soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674						c.(865-867)GAA>GGA		platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						88.0	90.0	89.0					4																	55133562		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55133562A>G	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.866A>G	4.37:g.55133562A>G	ENSP00000257290:p.Glu289Gly	TSP Lung(21;0.16)				PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.E183G|PDGFRA_uc003ham.2_RNA	p.E289G	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		6	1197	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		289			Ig-like C2-type 3.|Extracellular (Potential).		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.866A>G	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	A	19.54	3.846722	0.71603	.	.	ENSG00000134853	ENST00000257290	T	0.68903	-0.36	5.67	4.48	0.54585	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.33005	U	0.005396	T	0.64549	0.2608	M	0.65975	2.015	0.80722	D	1	P;P	0.40834	0.73;0.698	B;B	0.40702	0.219;0.338	T	0.61821	-0.6984	10	0.31617	T	0.26	.	11.615	0.51083	0.9302:0.0:0.0698:0.0	.	289;289	P16234-3;P16234	.;PGFRA_HUMAN	G	289	ENSP00000257290:E289G	ENSP00000257290:E289G	E	+	2	0	PDGFRA	54828319	0.996000	0.38824	0.907000	0.35723	0.988000	0.76386	4.423000	0.59861	0.978000	0.38470	0.260000	0.18958	GAA		0.468	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206	
KDR	3791	broad.mit.edu	37	4	55955634	55955634	+	Missense_Mutation	SNP	G	G	A	rs138424770		TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr4:55955634G>A	ENST00000263923.4	-	25	3606	c.3311C>T	c.(3310-3312)tCt>tTt	p.S1104F	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1104	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGGATATGGAGAAGCACCTAG	0.393			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												uc003has.2				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		0				lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.(3310-3312)TCT>TTT		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						60.0	58.0	59.0					4																	55955634		2203	4300	6503	SO:0001583	missense	3791	Familial_Infantile_Hemangioma			angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55955634G>A	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.3311C>T	4.37:g.55955634G>A	ENSP00000263923:p.Ser1104Phe	TSP Lung(20;0.16)				KDR_uc003hat.1_Missense_Mutation_p.S1104F	p.S1104F	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		25	3613	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		1104			Protein kinase.|Cytoplasmic (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.3311C>T	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.741267	0.89573	.	.	ENSG00000128052	ENST00000263923	D	0.89123	-2.47	5.57	5.57	0.84162	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.119082	0.64402	D	0.000018	D	0.92189	0.7523	L	0.35854	1.095	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92932	0.6364	10	0.87932	D	0	.	19.1242	0.93375	0.0:0.0:1.0:0.0	.	1104	P35968	VGFR2_HUMAN	F	1104	ENSP00000263923:S1104F	ENSP00000263923:S1104F	S	-	2	0	KDR	55650391	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	9.869000	0.99810	2.611000	0.88343	0.467000	0.42956	TCT		0.393	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1		
KIAA1109	84162	broad.mit.edu	37	4	123107257	123107257	+	Missense_Mutation	SNP	C	C	T	rs553523360		TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr4:123107257C>T	ENST00000264501.4	+	7	798	c.425C>T	c.(424-426)tCg>tTg	p.S142L	KIAA1109_ENST00000455637.1_Missense_Mutation_p.S142L|KIAA1109_ENST00000388738.3_Missense_Mutation_p.S142L			Q2LD37	K1109_HUMAN	KIAA1109	142					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TATAATCGCTCGGATCTTTAT	0.358													C|||	1	0.000199681	0.0	0.0	5008	,	,		12399	0.0		0.001	False		,,,				2504	0.0					uc003ieh.2																			0				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(424-426)TCG>TTG		fragile site-associated protein							112.0	109.0	110.0					4																	123107257		1822	4086	5908	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123107257C>T	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.425C>T	4.37:g.123107257C>T	ENSP00000264501:p.Ser142Leu					KIAA1109_uc003iei.1_5'UTR	p.S142L	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			5	470	+			142					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.425C>T	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008146	0.75046	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637	D;D;D	0.94280	-3.39;-3.39;-3.39	5.34	5.34	0.76211	.	0.337088	0.18440	U	0.141172	D	0.85252	0.5654	N	0.12746	0.255	0.58432	D	0.999995	P	0.39404	0.672	B	0.25614	0.062	D	0.85695	0.1309	10	0.37606	T	0.19	.	19.0277	0.92939	0.0:1.0:0.0:0.0	.	142	Q2LD37	K1109_HUMAN	L	142	ENSP00000264501:S142L;ENSP00000373390:S142L;ENSP00000389925:S142L	ENSP00000264501:S142L	S	+	2	0	KIAA1109	123326707	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.614000	0.82996	2.495000	0.84180	0.467000	0.42956	TCG		0.358	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797	
ANKRD50	57182	broad.mit.edu	37	4	125593092	125593092	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr4:125593092A>G	ENST00000504087.1	-	4	2377	c.1340T>C	c.(1339-1341)tTa>tCa	p.L447S	ANKRD50_ENST00000515641.1_Missense_Mutation_p.L268S	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	447										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CAATGGTGTTAAATTCTTGGC	0.388																																						uc003ifg.3																			0				central_nervous_system(1)	1						c.(1339-1341)TTA>TCA		ankyrin repeat domain 50							121.0	121.0	121.0					4																	125593092		2203	4300	6503	SO:0001583	missense	57182							g.chr4:125593092A>G	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.1340T>C	4.37:g.125593092A>G	ENSP00000425658:p.Leu447Ser					ANKRD50_uc011cgo.1_Missense_Mutation_p.L268S|ANKRD50_uc010inw.2_Missense_Mutation_p.L447S	p.L447S	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN			3	1606	-			447					A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.1340T>C	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	A	16.64	3.179116	0.57800	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.73363	-0.74;-0.71	5.39	4.21	0.49690	.	0.000000	0.64402	D	0.000006	D	0.82604	0.5073	M	0.64170	1.965	0.48901	D	0.999721	D	0.76494	0.999	D	0.75484	0.986	T	0.83283	-0.0037	10	0.72032	D	0.01	.	11.0115	0.47665	0.9277:0.0:0.0723:0.0	.	447	Q9ULJ7	ANR50_HUMAN	S	447;268	ENSP00000425658:L447S;ENSP00000425355:L268S	ENSP00000425658:L447S	L	-	2	0	ANKRD50	125812542	1.000000	0.71417	0.849000	0.33467	0.995000	0.86356	8.571000	0.90752	1.074000	0.40909	0.454000	0.30748	TTA		0.388	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337	
SH3D19	152503	broad.mit.edu	37	4	152096196	152096196	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr4:152096196G>C	ENST00000409252.2	-	6	1027	c.320C>G	c.(319-321)cCa>cGa	p.P107R	SH3D19_ENST00000604030.1_5'Flank|SH3D19_ENST00000514152.1_Missense_Mutation_p.P107R|SH3D19_ENST00000424281.1_Missense_Mutation_p.P107R|SH3D19_ENST00000427414.2_Missense_Mutation_p.P107R|SH3D19_ENST00000455740.1_Missense_Mutation_p.P107R|SH3D19_ENST00000304527.4_Missense_Mutation_p.P107R|SH3D19_ENST00000409598.4_Missense_Mutation_p.P107R			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	107	Pro-rich.				cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GCCAGGGTTTGGTTTCTTTGG	0.537																																						uc010ipl.1																			0				ovary(1)|skin(1)	2						c.(319-321)CCA>CGA		SH3 domain containing 19 isoform a							102.0	102.0	102.0					4																	152096196		2203	4300	6503	SO:0001583	missense	152503				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding	g.chr4:152096196G>C	BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"""EEN binding protein"""	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.320C>G	4.37:g.152096196G>C	ENSP00000386848:p.Pro107Arg					SH3D19_uc003imc.2_Missense_Mutation_p.P107R|SH3D19_uc003ime.2_Missense_Mutation_p.P107R|SH3D19_uc010ipm.2_Missense_Mutation_p.P107R	p.P107R	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN			7	1410	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)	107			Pro-rich.		B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Missense_Mutation	SNP	ENST00000409252.2	37	c.320C>G	CCDS34077.2	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426366	0.83667	.	.	ENSG00000109686	ENST00000409598;ENST00000304527;ENST00000455740;ENST00000424281;ENST00000427414;ENST00000409252;ENST00000514152	T;T;T;T;T;T;T	0.05319	3.46;3.46;3.46;3.46;3.46;3.46;3.46	6.07	6.07	0.98685	.	0.090745	0.49305	D	0.000159	T	0.26159	0.0638	M	0.64997	1.995	0.51012	D	0.999907	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.00015	-1.2400	10	0.72032	D	0.01	-11.5977	20.6439	0.99570	0.0:0.0:1.0:0.0	.	107;107;107	Q5HYK7;Q5HYK7-2;Q5HYK7-3	SH319_HUMAN;.;.	R	107	ENSP00000387030:P107R;ENSP00000302913:P107R;ENSP00000416708:P107R;ENSP00000404542:P107R;ENSP00000415694:P107R;ENSP00000386848:P107R;ENSP00000423449:P107R	ENSP00000302913:P107R	P	-	2	0	SH3D19	152315646	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.778000	0.75043	2.884000	0.98904	0.655000	0.94253	CCA		0.537	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335132.3	NM_001009555	
PCDHA2	56146	broad.mit.edu	37	5	140176220	140176220	+	Silent	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr5:140176220C>T	ENST00000526136.1	+	1	1671	c.1671C>T	c.(1669-1671)gaC>gaT	p.D557D	PCDHA2_ENST00000378132.1_Silent_p.D557D|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Silent_p.D557D|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	557	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTGCTGGACGAGAACGACA	0.687																																						uc003lhd.2																			0				ovary(4)	4						c.(1669-1671)GAC>GAT		protocadherin alpha 2 isoform 1 precursor							81.0	80.0	80.0					5																	140176220		2203	4298	6501	SO:0001819	synonymous_variant	56146				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140176220C>T	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1671C>T	5.37:g.140176220C>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.D557D|PCDHA2_uc011czy.1_Silent_p.D557D	p.D557D	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1777	+			557			Cadherin 5.|Extracellular (Potential).		O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	37	c.1671C>T	CCDS54914.1																																																																																				0.687	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905	
RBM27	54439	broad.mit.edu	37	5	145598558	145598558	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr5:145598558G>A	ENST00000265271.5	+	2	236	c.70G>A	c.(70-72)Gat>Aat	p.D24N	RBM27_ENST00000506502.1_Missense_Mutation_p.D24N	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	24					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGTGATGCTGATCCTTCAGC	0.333																																						uc003lnz.3																			0				central_nervous_system(2)|pancreas(1)	3						c.(70-72)GAT>AAT		RNA binding motif protein 27							130.0	117.0	121.0					5																	145598558		1568	3582	5150	SO:0001583	missense	54439				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr5:145598558G>A	AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.70G>A	5.37:g.145598558G>A	ENSP00000265271:p.Asp24Asn					RBM27_uc003lny.2_Missense_Mutation_p.D24N	p.D24N	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	236	+			24					Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	37	c.70G>A	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	G	35	5.433943	0.96150	.	.	ENSG00000091009	ENST00000265271	T	0.45276	0.9	5.69	5.69	0.88448	Splicing factor PWI (2);	0.000000	0.85682	D	0.000000	T	0.73892	0.3645	M	0.91872	3.25	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.91635	0.996;0.999	T	0.79562	-0.1752	10	0.87932	D	0	-16.5456	19.821	0.96592	0.0:0.0:1.0:0.0	.	24;24	Q9P2N5;B3KY61	RBM27_HUMAN;.	N	24	ENSP00000265271:D24N	ENSP00000265271:D24N	D	+	1	0	RBM27	145578751	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.819000	0.99357	2.683000	0.91414	0.655000	0.94253	GAT		0.333	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128	
NDST1	3340	broad.mit.edu	37	5	149922522	149922522	+	Silent	SNP	A	A	G			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr5:149922522A>G	ENST00000261797.6	+	10	2461	c.1959A>G	c.(1957-1959)aaA>aaG	p.K653K	NDST1_ENST00000523767.1_Silent_p.K653K|snoU13_ENST00000459561.1_RNA	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	653	Heparan sulfate N-sulfotransferase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTATCACAAAGGCATCGACT	0.567																																						uc003lsk.3																			0				breast(1)|skin(1)	2						c.(1957-1959)AAA>AAG		N-deacetylase/N-sulfotransferase (heparan							172.0	168.0	169.0					5																	149922522		2203	4300	6503	SO:0001819	synonymous_variant	3340				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr5:149922522A>G	U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"""Sulfotransferases, membrane-bound"""	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.1959A>G	5.37:g.149922522A>G						NDST1_uc011dcj.1_Silent_p.K653K	p.K653K	NM_001543	NP_001534	P52848	NDST1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		10	2461	+		all_hematologic(541;0.224)	653			Heparan sulfate N-sulfotransferase 1.|Lumenal (Potential).		Q96E57	Silent	SNP	ENST00000261797.6	37	c.1959A>G	CCDS34277.1																																																																																				0.567	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374314.2	NM_001543	
POU5F1	5460	broad.mit.edu	37	6	31133413	31133413	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr6:31133413A>G	ENST00000259915.8	-	3	664	c.592T>C	c.(592-594)Tgt>Cgt	p.C198R	POU5F1_ENST00000471529.2_Missense_Mutation_p.C2R|POU5F1_ENST00000606567.1_Missense_Mutation_p.C28R|POU5F1_ENST00000512818.1_Missense_Mutation_p.C2R|POU5F1_ENST00000513407.1_Missense_Mutation_p.C2R|POU5F1_ENST00000441888.3_Missense_Mutation_p.C2R	NM_002701.4	NP_002692.2	Q01860	PO5F1_HUMAN	POU class 5 homeobox 1	198	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				anatomical structure morphogenesis (GO:0009653)|blastocyst development (GO:0001824)|BMP signaling pathway involved in heart induction (GO:0003130)|cardiac cell fate determination (GO:0060913)|cell fate commitment involved in formation of primary germ layer (GO:0060795)|endodermal cell fate specification (GO:0001714)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of gene silencing by miRNA (GO:0060965)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of asymmetric cell division (GO:0009786)|regulation of gene expression (GO:0010468)|regulation of heart induction by regulation of canonical Wnt signaling pathway (GO:0090081)|regulation of methylation-dependent chromatin silencing (GO:0090308)|regulation of transcription, DNA-templated (GO:0006355)|response to wounding (GO:0009611)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)		EWSR1/POU5F1(10)	breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	13					Dopamine(DB00988)|Norepinephrine(DB00368)	CGCAGCTTACACATGTTCTTG	0.547			T	EWSR1	sarcoma																																	uc003nsv.2				Dom	yes		6	6p21.31	5460	T	"""POU domain, class 5, transcription factor 1"""			M	EWSR1		sarcoma	EWSR1/POU5F1(10)	0				skin(7)|salivary_gland(2)|bone(2)|lung(1)|ovary(1)	13						c.(592-594)TGT>CGT		POU domain, class 5, transcription factor 1							32.0	35.0	34.0					6																	31133413		1511	2707	4218	SO:0001583	missense	5460				anatomical structure morphogenesis|blastocyst development|BMP signaling pathway involved in heart induction|cardiac cell fate determination|cell fate commitment involved in formation of primary germ layers|mRNA transcription from RNA polymerase II promoter|negative regulation of gene silencing by miRNA|positive regulation of catenin import into nucleus|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|regulation of asymmetric cell division|regulation of heart induction by regulation of canonical Wnt receptor signaling pathway|regulation of methylation-dependent chromatin silencing|response to wounding|somatic stem cell maintenance|somatic stem cell maintenance	cytosol|nucleoplasm|transcription factor complex	miRNA binding|sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr6:31133413A>G	Z11898	CCDS34391.1, CCDS47398.1, CCDS47398.2, CCDS75420.1	6p21.33	2011-06-20	2007-07-13		ENSG00000204531	ENSG00000204531		"""Homeoboxes / POU class"""	9221	protein-coding gene	gene with protein product		164177	"""POU domain class 5, transcription factor 1"""	OTF3		1408763	Standard	NM_002701		Approved	OCT3, Oct4, MGC22487	uc003nsv.3	Q01860	OTTHUMG00000031206	ENST00000259915.8:c.592T>C	6.37:g.31133413A>G	ENSP00000259915:p.Cys198Arg					POU5F1_uc003nsu.2_Missense_Mutation_p.C103R|uc011dnf.1_5'Flank	p.C198R	NM_002701	NP_002692	Q01860	PO5F1_HUMAN			3	646	-			198			POU-specific.		A6NCS1|A6NLL8|D2IYK4|P31359|Q15167|Q15168|Q16422|Q5STF3|Q5STF4	Missense_Mutation	SNP	ENST00000259915.8	37	c.592T>C	CCDS34391.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.543094	0.86022	.	.	ENSG00000204531	ENST00000541552;ENST00000512818;ENST00000259915;ENST00000441888;ENST00000471529	D;D;D;D	0.84516	-1.61;-1.86;-1.61;-1.61	5.54	5.54	0.83059	POU-specific (3);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.64402	D	0.000006	D	0.89022	0.6597	M	0.64170	1.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90671	0.4598	10	0.87932	D	0	.	13.6231	0.62149	1.0:0.0:0.0:0.0	.	198;103	Q01860;D2IYK4	PO5F1_HUMAN;.	R	103;2;198;2;2	ENSP00000425479:C2R;ENSP00000259915:C198R;ENSP00000389359:C2R;ENSP00000425083:C2R	ENSP00000259915:C198R	C	-	1	0	POU5F1	31241392	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.273000	0.78527	2.094000	0.63399	0.519000	0.50382	TGT		0.547	POU5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076413.4	NM_002701	
NEU1	4758	broad.mit.edu	37	6	31829050	31829050	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr6:31829050T>C	ENST00000375631.4	-	3	659	c.530A>G	c.(529-531)gAt>gGt	p.D177G		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	177					glycosphingolipid metabolic process (GO:0006687)|lipid catabolic process (GO:0016042)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)	GGAAACACCATCATCCTTGCT	0.532																																						uc003nxq.3																			0				ovary(1)	1						c.(529-531)GAT>GGT		neuraminidase precursor	Oseltamivir(DB00198)|Zanamivir(DB00558)						109.0	100.0	103.0					6																	31829050		1511	2709	4220	SO:0001583	missense	4758					cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding	g.chr6:31829050T>C	AF040958	CCDS4723.1	6p21	2012-10-02			ENSG00000204386	ENSG00000204386	3.2.1.18		7758	protein-coding gene	gene with protein product		608272		NEU		9054950	Standard	NM_000434		Approved		uc003nxq.4	Q99519	OTTHUMG00000031284	ENST00000375631.4:c.530A>G	6.37:g.31829050T>C	ENSP00000364782:p.Asp177Gly					NEU1_uc010jtg.2_RNA|NEU1_uc003nxr.3_RNA|NEU1_uc010jth.2_Missense_Mutation_p.D8G|NEU1_uc003nxs.3_Missense_Mutation_p.D177G	p.D177G	NM_000434	NP_000425	Q99519	NEUR1_HUMAN			3	686	-			177			BNR 2.			Missense_Mutation	SNP	ENST00000375631.4	37	c.530A>G	CCDS4723.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.836655	0.91117	.	.	ENSG00000204386	ENST00000375631	D	0.83992	-1.79	5.7	5.7	0.88788	Neuraminidase (2);	0.000000	0.85682	D	0.000000	D	0.88669	0.6499	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;0.966	D;P	0.80764	0.994;0.796	D	0.89396	0.3692	10	0.51188	T	0.08	-0.456	13.923	0.63945	0.0:0.0:0.0:1.0	.	177;177	E9PIF4;Q99519	.;NEUR1_HUMAN	G	177	ENSP00000364782:D177G	ENSP00000364782:D177G	D	-	2	0	NEU1	31937029	1.000000	0.71417	0.750000	0.31169	0.995000	0.86356	5.661000	0.68025	2.175000	0.68902	0.533000	0.62120	GAT		0.532	NEU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076616.2		
HIVEP2	3097	broad.mit.edu	37	6	143074691	143074691	+	Silent	SNP	A	A	G			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr6:143074691A>G	ENST00000367604.1	-	9	7533	c.6894T>C	c.(6892-6894)acT>acC	p.T2298T	RP1-67K17.3_ENST00000437067.1_RNA|HIVEP2_ENST00000367603.2_Silent_p.T2298T|HIVEP2_ENST00000012134.2_Silent_p.T2298T			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2298					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GAGAGGAGGGAGTGCTAGGTG	0.527																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	uc003qjd.2																			0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(6892-6894)ACT>ACC		human immunodeficiency virus type I enhancer							93.0	94.0	94.0					6																	143074691		2025	4193	6218	SO:0001819	synonymous_variant	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143074691A>G	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.6894T>C	6.37:g.143074691A>G							p.T2298T	NM_006734	NP_006725	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	10	7637	-			2298					Q02646|Q5THT5|Q9NS05	Silent	SNP	ENST00000367604.1	37	c.6894T>C	CCDS43510.1																																																																																				0.527	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1		
T	6862	broad.mit.edu	37	6	166571992	166571992	+	Silent	SNP	G	G	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr6:166571992G>T	ENST00000296946.2	-	9	1587	c.1119C>A	c.(1117-1119)gcC>gcA	p.A373A	T_ENST00000366871.3_Silent_p.A315A	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	373					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GGAAGAACTGGGCCCCCAGCC	0.692									Chordoma, Familial Clustering of																													uc003quu.1																			0				ovary(1)|pancreas(1)	2						c.(1117-1119)GCC>GCA		transcription factor T							20.0	27.0	25.0					6																	166571992		2202	4298	6500	SO:0001819	synonymous_variant	6862	Chordoma_Familial_Clustering_of	Familial Cancer Database		anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr6:166571992G>T	AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"""T-boxes"""	11515	protein-coding gene	gene with protein product		601397	"""T brachyury (mouse) homolog"""			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.1119C>A	6.37:g.166571992G>T						T_uc003qut.1_Silent_p.A374A|T_uc003quv.1_Silent_p.A315A	p.A373A	NM_003181	NP_003172	O15178	BRAC_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)	9	1612	-		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)	373					E7ERD6|Q4KMP4	Silent	SNP	ENST00000296946.2	37	c.1119C>A	CCDS5290.1																																																																																				0.692	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	NM_003181	
MAGI2	9863	broad.mit.edu	37	7	77973153	77973153	+	Silent	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr7:77973153C>T	ENST00000354212.4	-	9	1603	c.1350G>A	c.(1348-1350)ctG>ctA	p.L450L	MAGI2_ENST00000535697.1_Silent_p.L287L|MAGI2_ENST00000522391.1_Silent_p.L450L|MAGI2_ENST00000536571.1_Silent_p.L282L|MAGI2_ENST00000419488.1_Silent_p.L450L	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	450	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TTTTCACCTGCAGAAACTCAT	0.453																																						uc003ugx.2																			0				ovary(5)|lung(4)|breast(1)|skin(1)	11						c.(1348-1350)CTG>CTA		membrane associated guanylate kinase, WW and PDZ							116.0	104.0	108.0					7																	77973153		2203	4300	6503	SO:0001819	synonymous_variant	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77973153C>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1350G>A	7.37:g.77973153C>T						MAGI2_uc003ugy.2_Silent_p.L450L|MAGI2_uc010ldx.1_Silent_p.L59L|MAGI2_uc010ldy.1_Silent_p.L59L|MAGI2_uc011kgr.1_Silent_p.L282L|MAGI2_uc011kgs.1_Silent_p.L287L	p.L450L	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN			9	1604	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	450			PDZ 2.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Silent	SNP	ENST00000354212.4	37	c.1350G>A	CCDS5594.1																																																																																				0.453	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301	
DNAJC2	27000	broad.mit.edu	37	7	102953526	102953526	+	Silent	SNP	A	A	G			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr7:102953526A>G	ENST00000379263.3	-	16	1909	c.1659T>C	c.(1657-1659)ccT>ccC	p.P553P	DNAJC2_ENST00000249270.7_Silent_p.P500P|PMPCB_ENST00000420236.2_Intron|PMPCB_ENST00000249269.4_3'UTR	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	553	SANT 2. {ECO:0000255|PROSITE- ProRule:PRU00624}.				'de novo' cotranslational protein folding (GO:0051083)|chromatin modification (GO:0016568)|DNA replication (GO:0006260)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						CTGTTGTCCAAGGGGTGAAGT	0.393																																						uc003vbo.2																			0				kidney(1)	1						c.(1657-1659)CCT>CCC		DnaJ (Hsp40) homolog, subfamily C, member 2							180.0	164.0	169.0					7																	102953526		1820	4078	5898	SO:0001819	synonymous_variant	27000				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding	g.chr7:102953526A>G	X98260	CCDS43628.1, CCDS47679.1	7q22-q32	2011-09-02	2008-07-01	2008-07-01	ENSG00000105821	ENSG00000105821		"""Heat shock proteins / DNAJ (HSP40)"""	13192	protein-coding gene	gene with protein product		605502	"""zuotin related factor 1"""	ZRF1		8885239	Standard	NM_001129887		Approved	MPP11, MPHOSPH11, ZUO1, zuotin	uc003vbo.3	Q99543	OTTHUMG00000157202	ENST00000379263.3:c.1659T>C	7.37:g.102953526A>G						PMPCB_uc003vbl.2_3'UTR|PMPCB_uc003vbm.2_3'UTR|PMPCB_uc010liv.2_3'UTR|PMPCB_uc010liw.2_3'UTR|PMPCB_uc011kll.1_Intron|DNAJC2_uc003vbn.2_Silent_p.P178P|DNAJC2_uc010lix.2_Silent_p.P500P|DNAJC2_uc003vbp.2_Silent_p.P178P	p.P553P	NM_014377	NP_055192	Q99543	DNJC2_HUMAN			16	1910	-			553			SANT 2.		A4VCI0|Q9BVX1	Silent	SNP	ENST00000379263.3	37	c.1659T>C	CCDS43628.1																																																																																				0.393	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347891.1		
RELN	5649	broad.mit.edu	37	7	103281043	103281043	+	Silent	SNP	C	C	T	rs146749232		TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr7:103281043C>T	ENST00000428762.1	-	17	2175	c.2016G>A	c.(2014-2016)ccG>ccA	p.P672P	RELN_ENST00000343529.5_Silent_p.P672P|RELN_ENST00000424685.2_Silent_p.P672P	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	672	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGAGACATGACGGGCCAATAT	0.368													C|||	1	0.000199681	0.0	0.0	5008	,	,		17976	0.001		0.0	False		,,,				2504	0.0				NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(2014-2016)CCG>CCA		reelin isoform a		C	,	1,4405	2.1+/-5.4	0,1,2202	105.0	96.0	99.0		2016,2016	-8.7	0.1	7	dbSNP_134	99	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	RELN	NM_005045.3,NM_173054.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	672/3461,672/3459	103281043	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103281043C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.2016G>A	7.37:g.103281043C>T						RELN_uc010liz.2_Silent_p.P672P	p.P672P	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	17	2176	-			672			EGF-like 1.		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.2016G>A	CCDS47680.1																																																																																				0.368	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
CNOT4	4850	broad.mit.edu	37	7	135047676	135047676	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr7:135047676delG	ENST00000451834.1	-	12	2377	c.2094delC	c.(2092-2094)cccfs	p.P698fs	CNOT4_ENST00000473470.1_5'Flank|CNOT4_ENST00000541284.1_Frame_Shift_Del_p.P701fs|CNOT4_ENST00000361528.4_Frame_Shift_Del_p.P627fs|CNOT4_ENST00000423368.2_Frame_Shift_Del_p.P630fs			O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	0					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GTAAATCTGTGGGGGTTTTGC	0.527																																					Ovarian(51;766 1130 5502 35047 50875)	uc011kpy.1																			0					0						c.(2101-2103)CCCfs		CCR4-NOT transcription complex, subunit 4							202.0	211.0	208.0					7																	135047676		1853	4093	5946	SO:0001589	frameshift_variant	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135047676delG	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000451834.1:c.2094delC	7.37:g.135047676delG	ENSP00000388491:p.Pro698fs					CNOT4_uc003vss.2_Frame_Shift_Del_p.P627fs|CNOT4_uc011kpz.1_Frame_Shift_Del_p.P698fs|CNOT4_uc003vst.2_Frame_Shift_Del_p.P630fs	p.P701fs	NM_001008225	NP_001008226	O95628	CNOT4_HUMAN			11	2195	-			370					B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Frame_Shift_Del	DEL	ENST00000451834.1	37	c.2103delC	CCDS55167.1																																																																																				0.527	CNOT4-003	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340670.1	NM_013316	
CNOT4	4850	broad.mit.edu	37	7	135047681	135047681	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr7:135047681delT	ENST00000451834.1	-	12	2372	c.2089delA	c.(2089-2091)accfs	p.T697fs	CNOT4_ENST00000473470.1_5'Flank|CNOT4_ENST00000541284.1_Frame_Shift_Del_p.T700fs|CNOT4_ENST00000361528.4_Frame_Shift_Del_p.T626fs|CNOT4_ENST00000423368.2_Frame_Shift_Del_p.T629fs			O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	0					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TCTGTGGGGGTTTTGCTGGGG	0.527																																					Ovarian(51;766 1130 5502 35047 50875)	uc011kpy.1																			0					0						c.(2098-2100)ACCfs		CCR4-NOT transcription complex, subunit 4							197.0	206.0	203.0					7																	135047681		1853	4093	5946	SO:0001589	frameshift_variant	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135047681delT	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000451834.1:c.2089delA	7.37:g.135047681delT	ENSP00000388491:p.Thr697fs					CNOT4_uc003vss.2_Frame_Shift_Del_p.T626fs|CNOT4_uc011kpz.1_Frame_Shift_Del_p.T697fs|CNOT4_uc003vst.2_Frame_Shift_Del_p.T629fs	p.T700fs	NM_001008225	NP_001008226	O95628	CNOT4_HUMAN			11	2190	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Frame_Shift_Del	DEL	ENST00000451834.1	37	c.2098delA	CCDS55167.1																																																																																				0.527	CNOT4-003	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340670.1	NM_013316	
AGPAT6	137964	broad.mit.edu	37	8	41456786	41456786	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr8:41456786G>A	ENST00000396987.3	+	2	1055	c.128G>A	c.(127-129)cGc>cAc	p.R43H		NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	43					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|fatty acid metabolic process (GO:0006631)|glandular epithelial cell maturation (GO:0002071)|glycerophospholipid biosynthetic process (GO:0046474)|lactation (GO:0007595)|lipid biosynthetic process (GO:0008610)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)	p.R43H(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			TTTGGTATCCGCAAACTCTAC	0.433																																						uc003xnz.2																			2	Substitution - Missense(2)		kidney(1)|endometrium(1)		0						c.(127-129)CGC>CAC		lysophosphatidic acid acyltransferase zeta							143.0	134.0	137.0					8																	41456786		2203	4300	6503	SO:0001583	missense	137964				acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity	g.chr8:41456786G>A	AF406612	CCDS6117.1	8p11.21	2013-02-05	2013-02-05			ENSG00000158669	2.3.1.15	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20880	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, zeta"""	608143	"""1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta)"""			12938015	Standard	NM_178819		Approved	DKFZp586M1819, LPAAT-zeta	uc003xnz.2	Q86UL3		ENST00000396987.3:c.128G>A	8.37:g.41456786G>A	ENSP00000380184:p.Arg43His						p.R43H	NM_178819	NP_848934	Q86UL3	GPAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)		2	1067	+	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	43					Q86V89	Missense_Mutation	SNP	ENST00000396987.3	37	c.128G>A	CCDS6117.1	.	.	.	.	.	.	.	.	.	.	G	35	5.581895	0.96578	.	.	ENSG00000158669	ENST00000396987	T	0.58797	0.31	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.77658	0.4163	M	0.80183	2.485	0.80722	D	1	D	0.76494	0.999	D	0.65140	0.932	T	0.78979	-0.1990	10	0.72032	D	0.01	.	19.5092	0.95133	0.0:0.0:1.0:0.0	.	43	Q86UL3	GPAT4_HUMAN	H	43	ENSP00000380184:R43H	ENSP00000380184:R43H	R	+	2	0	AGPAT6	41575943	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.869000	0.99810	2.861000	0.98227	0.650000	0.86243	CGC		0.433	AGPAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377158.1	NM_178819	
EYA1	2138	broad.mit.edu	37	8	72127864	72127864	+	Missense_Mutation	SNP	G	G	A	rs139717960	byFrequency	TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr8:72127864G>A	ENST00000340726.3	-	15	2099	c.1460C>T	c.(1459-1461)tCg>tTg	p.S487L	EYA1_ENST00000388743.2_Missense_Mutation_p.S486L|EYA1_ENST00000388742.4_Missense_Mutation_p.S487L|EYA1_ENST00000388740.3_Missense_Mutation_p.S454L|EYA1_ENST00000388741.2_Missense_Mutation_p.S453L|EYA1_ENST00000303824.7_Missense_Mutation_p.S481L|EYA1_ENST00000419131.1_Missense_Mutation_p.S452L	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	487			S -> P (in BOR1). {ECO:0000269|PubMed:9361030}.		anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)	p.S487L(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GTGAATGAGCGAGAGTGCTTT	0.532													G|||	3	0.000599042	0.0	0.0014	5008	,	,		16180	0.0		0.002	False		,,,				2504	0.0					uc003xys.3																			1	Substitution - Missense(1)	p.S487L(1)	central_nervous_system(1)	ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5	GRCh37	CM045706	EYA1	M	rs139717960	c.(1459-1461)TCG>TTG		eyes absent 1 isoform b		G	LEU/SER,LEU/SER,LEU/SER,LEU/SER	0,4406		0,0,2203	81.0	80.0	80.0		1460,1460,1355,1361	4.4	0.9	8	dbSNP_134	80	7,8593	5.7+/-21.5	0,7,4293	yes	missense,missense,missense,missense	EYA1	NM_000503.4,NM_172058.2,NM_172059.2,NM_172060.2	145,145,145,145	0,7,6496	AA,AG,GG		0.0814,0.0,0.0538	benign,benign,benign,benign	487/593,487/593,452/558,454/560	72127864	7,12999	2203	4300	6503	SO:0001583	missense	2138				double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr8:72127864G>A	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.1460C>T	8.37:g.72127864G>A	ENSP00000342626:p.Ser487Leu					EYA1_uc003xyr.3_Missense_Mutation_p.S452L|EYA1_uc003xyt.3_Missense_Mutation_p.S454L|EYA1_uc010lzf.2_Missense_Mutation_p.S414L|EYA1_uc003xyu.2_Missense_Mutation_p.S487L|EYA1_uc011lfe.1_Missense_Mutation_p.S481L|EYA1_uc003xyv.2_Missense_Mutation_p.S365L	p.S487L	NM_172058	NP_742055	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)		14	1747	-	Breast(64;0.046)		487		S -> P (in BOR1).			A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	37	c.1460C>T	CCDS34906.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	15.11	2.735653	0.49045	0.0	8.14E-4	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;T	0.97480	-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-1.46	4.44	4.44	0.53790	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.110305	0.64402	D	0.000011	D	0.94241	0.8151	L	0.37561	1.115	0.52501	D	0.999954	B;B;B;B;B	0.34399	0.275;0.452;0.185;0.275;0.175	B;B;B;B;B	0.35655	0.071;0.207;0.178;0.038;0.074	D	0.93149	0.6548	10	0.18276	T	0.48	-4.6374	17.2839	0.87136	0.0:0.0:1.0:0.0	.	481;414;454;487;452	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	L	487;487;455;454;481;453;486;452	ENSP00000373394:S487L;ENSP00000342626:S487L;ENSP00000373392:S454L;ENSP00000303221:S481L;ENSP00000373393:S453L;ENSP00000373395:S486L;ENSP00000410176:S452L	ENSP00000303221:S481L	S	-	2	0	EYA1	72290418	1.000000	0.71417	0.889000	0.34880	0.878000	0.50629	9.548000	0.98103	2.295000	0.77249	0.561000	0.74099	TCG		0.532	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060	
FAM83H	286077	broad.mit.edu	37	8	144808129	144808129	+	Missense_Mutation	SNP	C	C	T	rs369901205		TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr8:144808129C>T	ENST00000388913.3	-	5	3627	c.3502G>A	c.(3502-3504)Gtg>Atg	p.V1168M		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	1168					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ATCTTGGGCACGAACTTGCCC	0.647																																						uc003yzk.2																			0				lung(1)|central_nervous_system(1)|pancreas(1)	3						c.(3502-3504)GTG>ATG		FAM83H							26.0	29.0	28.0					8																	144808129		2020	4168	6188	SO:0001583	missense	286077				biomineral tissue development			g.chr8:144808129C>T	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.3502G>A	8.37:g.144808129C>T	ENSP00000373565:p.Val1168Met					FAM83H_uc010mfk.1_RNA	p.V1168M	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	3571	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1168					A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	c.3502G>A	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	c	2.410	-0.335658	0.05278	.	.	ENSG00000180921	ENST00000388913	T	0.13778	2.56	5.17	2.79	0.32731	.	3.707800	0.02395	N	0.080093	T	0.06005	0.0156	N	0.02916	-0.46	0.26031	N	0.981737	B	0.10296	0.003	B	0.04013	0.001	T	0.35649	-0.9780	10	0.02654	T	1	.	7.7926	0.29129	0.0:0.1644:0.0:0.8356	.	1168	Q6ZRV2	FA83H_HUMAN	M	1168	ENSP00000373565:V1168M	ENSP00000373565:V1168M	V	-	1	0	FAM83H	144880117	1.000000	0.71417	0.986000	0.45419	0.808000	0.45660	1.010000	0.29898	0.299000	0.22661	0.556000	0.70494	GTG		0.647	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488	
RIC1	57589	broad.mit.edu	37	9	5765489	5765489	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr9:5765489G>A	ENST00000414202.2	+	20	3108	c.2917G>A	c.(2917-2919)Gac>Aac	p.D973N	KIAA1432_ENST00000418622.3_Missense_Mutation_p.D894N|KIAA1432_ENST00000449720.2_Missense_Mutation_p.D857N|KIAA1432_ENST00000381532.2_Missense_Mutation_p.D894N|KIAA1432_ENST00000251879.6_Missense_Mutation_p.D973N	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		AGGCAAGTGGGACCTTTGTCG	0.448																																						uc003zji.2																			0					0						c.(2680-2682)GAC>AAC		connexin 43-interacting protein 150 isoform a							188.0	172.0	177.0					9																	5765489		2203	4300	6503	SO:0001583	missense	57589					integral to membrane		g.chr9:5765489G>A																												ENST00000414202.2:c.2917G>A	9.37:g.5765489G>A	ENSP00000416696:p.Asp973Asn					KIAA1432_uc003zjh.2_Missense_Mutation_p.D894N|KIAA1432_uc003zjl.3_Missense_Mutation_p.D857N|KIAA1432_uc003zjj.1_Missense_Mutation_p.D436N|ERMP1_uc011lme.1_RNA	p.D894N	NM_020829	NP_065880	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	19	2773	+		Acute lymphoblastic leukemia(23;0.154)	973						Missense_Mutation	SNP	ENST00000414202.2	37	c.2680G>A	CCDS34982.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.083250|4.083250	0.76642|0.76642	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720|ENST00000545641	.|.	.|.	.|.	6.08|6.08	6.08|6.08	0.98989|0.98989	Ribosome control protein 1 (1);|.	0.044255|.	0.85682|.	D|.	0.000000|.	T|T	0.60431|0.60431	0.2268|0.2268	L|L	0.28400|0.28400	0.85|0.85	0.80722|0.80722	D|D	1|1	D;D;D;P|.	0.65815|.	0.993;0.964;0.995;0.944|.	P;P;P;P|.	0.60012|.	0.824;0.815;0.867;0.647|.	T|T	0.50882|0.50882	-0.8775|-0.8775	9|5	0.40728|.	T|.	0.16|.	-12.3609|-12.3609	20.6721|20.6721	0.99693|0.99693	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	857;894;973;973|.	B7ZM67;B2RN24;Q4ADV7;G5E932|.	.;.;RIC1_HUMAN;.|.	N|E	973;973;894;894;857|864	.|.	ENSP00000251879:D973N|.	D|G	+|+	1|2	0|0	KIAA1432|KIAA1432	5755489|5755489	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.586000|0.586000	0.36452|0.36452	9.476000|9.476000	0.97823|0.97823	2.894000|2.894000	0.99253|0.99253	0.591000|0.591000	0.81541|0.81541	GAC|GGA		0.448	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3		
TESK1	7016	broad.mit.edu	37	9	35608190	35608190	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr9:35608190C>G	ENST00000336395.5	+	8	1079	c.829C>G	c.(829-831)Ctg>Gtg	p.L277V	TESK1_ENST00000498522.1_3'UTR|CD72_ENST00000490239.1_5'Flank|MIR4667_ENST00000578933.1_RNA	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	277	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell junction assembly (GO:0034329)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTTCCGAACTCTGGTGGGGGA	0.597																																						uc003zxa.2																			0				stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1)	7						c.(829-831)CTG>GTG		testis-specific protein kinase 1							129.0	100.0	110.0					9																	35608190		2203	4300	6503	SO:0001583	missense	7016				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr9:35608190C>G	D50863	CCDS6580.1	9p13	2010-04-27			ENSG00000107140	ENSG00000107140	2.7.12.1		11731	protein-coding gene	gene with protein product	"""testis-specific kinase-1"", ""testis specific kinase-1"""	601782				8537404	Standard	NM_006285		Approved		uc003zxa.3	Q15569	OTTHUMG00000019863	ENST00000336395.5:c.829C>G	9.37:g.35608190C>G	ENSP00000338127:p.Leu277Val					TESK1_uc003zwz.1_RNA|TESK1_uc010mks.2_Missense_Mutation_p.L117V	p.L277V	NM_006285	NP_006276	Q15569	TESK1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		8	1165	+			277			Protein kinase.		Q8IXZ8	Missense_Mutation	SNP	ENST00000336395.5	37	c.829C>G	CCDS6580.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.262922	0.39995	.	.	ENSG00000107140	ENST00000336395	T	0.34667	1.35	5.29	4.38	0.52667	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.32287	N	0.006319	T	0.27765	0.0683	L	0.28014	0.82	0.41121	D	0.985813	P;B	0.37370	0.592;0.392	B;B	0.41174	0.349;0.349	T	0.10109	-1.0644	10	0.66056	D	0.02	-8.025	7.3148	0.26495	0.1653:0.7471:0.0:0.0876	.	195;277	B4DQQ3;Q15569	.;TESK1_HUMAN	V	277	ENSP00000338127:L277V	ENSP00000338127:L277V	L	+	1	2	TESK1	35598190	0.966000	0.33281	0.977000	0.42913	0.916000	0.54674	2.310000	0.43708	1.183000	0.42943	0.561000	0.74099	CTG		0.597	TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052314.1	NM_006285	
OR13C8	138802	broad.mit.edu	37	9	107332367	107332367	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr9:107332367G>T	ENST00000335040.1	+	1	919	c.919G>T	c.(919-921)Gtc>Ttc	p.V307F		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						AAAGGCTGCTGTCAAAAACAT	0.373																																						uc011lvo.1																			0				ovary(1)|skin(1)	2						c.(919-921)GTC>TTC		olfactory receptor, family 13, subfamily C,							53.0	54.0	54.0					9																	107332367		2203	4300	6503	SO:0001583	missense	138802				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107332367G>T		CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"""GPCR / Class A : Olfactory receptors"""	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.919G>T	9.37:g.107332367G>T	ENSP00000334068:p.Val307Phe						p.V307F	NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN			1	919	+			307			Cytoplasmic (Potential).		Q5VVG0|Q96R44	Missense_Mutation	SNP	ENST00000335040.1	37	c.919G>T	CCDS35090.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.043999	0.36085	.	.	ENSG00000186943	ENST00000335040	T	0.35605	1.3	4.9	-1.84	0.07809	.	0.402324	0.20939	N	0.082955	T	0.17492	0.0420	N	0.12443	0.215	0.09310	N	1	P	0.42010	0.768	B	0.44044	0.439	T	0.17531	-1.0366	10	0.29301	T	0.29	.	3.6798	0.08306	0.1452:0.3579:0.3746:0.1224	.	307	Q8NGS7	O13C8_HUMAN	F	307	ENSP00000334068:V307F	ENSP00000334068:V307F	V	+	1	0	OR13C8	106372188	0.000000	0.05858	0.379000	0.26080	0.764000	0.43329	-1.141000	0.03207	-0.434000	0.07275	0.561000	0.74099	GTC		0.373	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1		
ASS1	445	broad.mit.edu	37	9	133364801	133364801	+	Missense_Mutation	SNP	G	G	A	rs571576756		TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr9:133364801G>A	ENST00000372394.1	+	13	1401	c.920G>A	c.(919-921)cGc>cAc	p.R307H	ASS1_ENST00000352480.5_Missense_Mutation_p.R307H|ASS1_ENST00000372393.3_Missense_Mutation_p.R307H			P00966	ASSY_HUMAN	argininosuccinate synthase 1	307			R -> C (in CTLN1; dbSNP:rs183276875).		acute-phase response (GO:0006953)|aging (GO:0007568)|arginine biosynthetic process (GO:0006526)|argininosuccinate metabolic process (GO:0000053)|aspartate metabolic process (GO:0006531)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to amine stimulus (GO:0071418)|cellular response to amino acid stimulus (GO:0071230)|cellular response to ammonium ion (GO:0071242)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to interferon-gamma (GO:0071346)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oleic acid (GO:0071400)|cellular response to tumor necrosis factor (GO:0071356)|citrulline metabolic process (GO:0000052)|diaphragm development (GO:0060539)|kidney development (GO:0001822)|liver development (GO:0001889)|midgut development (GO:0007494)|negative regulation of leukocyte cell-cell adhesion (GO:1903038)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to mycotoxin (GO:0010046)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|perikaryon (GO:0043204)	amino acid binding (GO:0016597)|argininosuccinate synthase activity (GO:0004055)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|toxic substance binding (GO:0015643)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	CGGGAAGTGCGCAAAATCAAA	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		16284	0.0		0.001	False		,,,				2504	0.0					uc004bzm.2																			0				ovary(1)	1						c.(919-921)CGC>CAC		argininosuccinate synthetase 1	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)						135.0	149.0	144.0					9																	133364801		2203	4300	6503	SO:0001583	missense	445				arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding	g.chr9:133364801G>A	X01630	CCDS6933.1	9q34.1	2012-10-02	2010-04-20	2006-08-24	ENSG00000130707	ENSG00000130707	6.3.4.5		758	protein-coding gene	gene with protein product		603470	"""argininosuccinate synthetase"""	ASS		3513483, 852520	Standard	NM_054012		Approved	CTLN1	uc004bzm.3	P00966	OTTHUMG00000020806	ENST00000372394.1:c.920G>A	9.37:g.133364801G>A	ENSP00000361471:p.Arg307His					ASS1_uc004bzn.2_Missense_Mutation_p.R307H|ASS1_uc010mza.2_Missense_Mutation_p.R383H|ASS1_uc004bzo.2_Missense_Mutation_p.R288H|ASS1_uc010mzb.2_Missense_Mutation_p.R345H|ASS1_uc004bzp.2_Missense_Mutation_p.R307H|ASS1_uc010mzc.2_Missense_Mutation_p.R307H	p.R307H	NM_000050	NP_000041	P00966	ASSY_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000514)	13	1276	+			307		R -> C (in CTLN1).			Q6LDL2|Q86UZ0|Q96GT4	Missense_Mutation	SNP	ENST00000372394.1	37	c.920G>A	CCDS6933.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422464	0.62622	.	.	ENSG00000130707	ENST00000334909;ENST00000352480;ENST00000372394;ENST00000372393;ENST00000372386	D;D;D;D	0.99105	-5.43;-5.43;-5.43;-5.08	4.5	4.5	0.54988	Argininosuccinate synthetase, catalytic/multimerisation domain body (1);	0.000000	0.85682	U	0.000000	D	0.97087	0.9048	L	0.55103	1.725	0.80722	D	1	B;B;B;B;B	0.31274	0.243;0.317;0.317;0.243;0.243	B;B;B;B;B	0.20955	0.032;0.031;0.031;0.021;0.021	D	0.98310	1.0523	10	0.15952	T	0.53	.	16.5684	0.84604	0.0:0.0:1.0:0.0	.	307;190;190;307;307	A8KAP9;B4E395;E9PDT0;Q5T6L4;P00966	.;.;.;.;ASSY_HUMAN	H	307;307;307;307;64	ENSP00000253004:R307H;ENSP00000361471:R307H;ENSP00000361469:R307H;ENSP00000361461:R64H	ENSP00000361470:R307H	R	+	2	0	ASS1	132354622	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.182000	0.94881	2.220000	0.72140	0.462000	0.41574	CGC		0.532	ASS1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054652.1	NM_000050	
MAGEB4	4115	broad.mit.edu	37	X	30260976	30260976	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:30260976C>T	ENST00000378982.2	+	1	920	c.724C>T	c.(724-726)Cga>Tga	p.R242*	MAGEB1_ENST00000378981.3_5'Flank|MAGEB1_ENST00000397550.1_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	242	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						TGGGGAACCCCGAAAGCTCAT	0.488																																						uc004dcb.2																			0				ovary(1)	1						c.(724-726)CGA>TGA		melanoma antigen family B, 4							64.0	62.0	62.0					X																	30260976		2202	4300	6502	SO:0001587	stop_gained	4115							g.chrX:30260976C>T		CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"""melanoma-associated antigen B4"", ""cancer/testis antigen family 3, member 6"""	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.724C>T	X.37:g.30260976C>T	ENSP00000368266:p.Arg242*					MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank	p.R242*	NM_002367	NP_002358	O15481	MAGB4_HUMAN			1	808	+			242			MAGE.		B2R9G0|Q6FHH4|Q8IZ00	Nonsense_Mutation	SNP	ENST00000378982.2	37	c.724C>T	CCDS14221.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.364436	0.61513	.	.	ENSG00000120289	ENST00000378982	.	.	.	3.31	-5.57	0.02521	.	0.069679	0.53938	U	0.000060	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.1914	0.20526	0.1638:0.5161:0.0:0.3201	.	.	.	.	X	242	.	ENSP00000368266:R242X	R	+	1	2	MAGEB4	30170897	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.639000	0.05446	-1.529000	0.01754	-0.191000	0.12829	CGA		0.488	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056159.1	NM_002367	
TAB3	257397	broad.mit.edu	37	X	30872355	30872355	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:30872355C>T	ENST00000378933.1	-	3	1604	c.1427G>A	c.(1426-1428)cGc>cAc	p.R476H	TAB3_ENST00000288422.2_Missense_Mutation_p.R476H|TAB3_ENST00000378928.1_5'Flank|TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000378932.2_Missense_Mutation_p.R476H|TAB3_ENST00000378930.3_Missense_Mutation_p.R476H	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	476					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						TGCTGCAGAGCGCTCTTCTTG	0.443																																					Pancreas(164;1598 1985 29022 43301 49529)	uc004dcj.2																			0				ovary(1)	1						c.(1426-1428)CGC>CAC		mitogen-activated protein kinase kinase kinase 7							85.0	81.0	82.0					X																	30872355		2202	4300	6502	SO:0001583	missense	257397				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chrX:30872355C>T	AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"""TAK1 binding protein 3"""	300480	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 3"""	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.1427G>A	X.37:g.30872355C>T	ENSP00000368215:p.Arg476His					TAB3_uc004dck.2_Missense_Mutation_p.R476H|TAB3_uc010ngl.2_Missense_Mutation_p.R476H	p.R476H	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN			6	2090	-			476					A6NDD9|Q6VQR0	Missense_Mutation	SNP	ENST00000378933.1	37	c.1427G>A	CCDS14226.1	.	.	.	.	.	.	.	.	.	.	C	1.839	-0.468025	0.04476	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.70986	-0.51;-0.51;-0.51;-0.53	4.94	4.06	0.47325	.	0.148925	0.64402	D	0.000008	T	0.38241	0.1033	N	0.01505	-0.83	0.43211	D	0.995073	B;B	0.12013	0.002;0.005	B;B	0.11329	0.006;0.002	T	0.13899	-1.0492	10	0.13108	T	0.6	-2.3808	8.4996	0.33150	0.0:0.765:0.1514:0.0836	.	476;476	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	H	476	ENSP00000368215:R476H;ENSP00000368212:R476H;ENSP00000288422:R476H;ENSP00000368214:R476H	ENSP00000288422:R476H	R	-	2	0	TAB3	30782276	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.276000	0.33156	0.968000	0.38212	0.523000	0.50628	CGC		0.443	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1	NM_152787	
RGN	9104	broad.mit.edu	37	X	46951551	46951551	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:46951551C>G	ENST00000352078.4	+	6	1131	c.786C>G	c.(784-786)tgC>tgG	p.C262W	RGN_ENST00000457380.1_Missense_Mutation_p.C190W|RGN_ENST00000336169.3_Missense_Mutation_p.C262W|RGN_ENST00000397180.1_Missense_Mutation_p.C262W	NM_004683.4	NP_004674.1	Q15493	RGN_HUMAN	regucalcin	262					cellular calcium ion homeostasis (GO:0006874)|L-ascorbic acid biosynthetic process (GO:0019853)|positive regulation of ATPase activity (GO:0032781)|regulation of calcium-mediated signaling (GO:0050848)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|enzyme regulator activity (GO:0030234)|gluconolactonase activity (GO:0004341)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						ATGTGACCTGCGCCCGGGATG	0.468																																						uc004dgz.1																			0					0						c.(784-786)TGC>TGG		regucalcin							71.0	67.0	68.0					X																	46951551		2203	4300	6503	SO:0001583	missense	9104				cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling	cytoplasm|nucleus	calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding	g.chrX:46951551C>G	D31815	CCDS14272.1, CCDS75968.1	Xp11.3	2014-03-14	2013-04-26		ENSG00000130988	ENSG00000130988	3.1.1.17		9989	protein-coding gene	gene with protein product	"""senescence marker protein-30"", ""gluconolactonase"""	300212	"""regucalcin (senescence marker protein-30)"""			7548213	Standard	NM_152869		Approved	SMP30, RC	uc004dha.1	Q15493	OTTHUMG00000021435	ENST00000352078.4:c.786C>G	X.37:g.46951551C>G	ENSP00000253303:p.Cys262Trp					RGN_uc004dha.1_Missense_Mutation_p.C262W|RGN_uc010nho.1_Missense_Mutation_p.C209W|RGN_uc010nhp.1_Missense_Mutation_p.C190W	p.C262W	NM_152869	NP_690608	Q15493	RGN_HUMAN			7	1755	+			262					A4FTW1|A8K271|Q53FC9|Q5JRR5	Missense_Mutation	SNP	ENST00000352078.4	37	c.786C>G	CCDS14272.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.553034	0.45487	.	.	ENSG00000130988	ENST00000397180;ENST00000457380;ENST00000352078;ENST00000336169	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.61	-2.65	0.06095	SMP-30/Gluconolaconase/LRE-like region (1);Six-bladed beta-propeller, TolB-like (1);	0.282781	0.41938	D	0.000798	T	0.31009	0.0783	N	0.24115	0.695	0.51767	D	0.99993	D;D	0.89917	0.999;1.0	P;D	0.71656	0.861;0.974	T	0.13953	-1.0490	10	0.87932	D	0	-14.7211	6.5286	0.22314	0.1078:0.269:0.0:0.6232	.	190;262	Q15493-2;Q15493	.;RGN_HUMAN	W	262;190;262;262	ENSP00000380365:C262W;ENSP00000406568:C190W;ENSP00000253303:C262W;ENSP00000338400:C262W	ENSP00000338400:C262W	C	+	3	2	RGN	46836495	0.998000	0.40836	0.369000	0.25952	0.699000	0.40488	0.327000	0.19663	-0.631000	0.05560	-1.307000	0.01316	TGC		0.468	RGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056385.1	NM_004683	
USP11	8237	broad.mit.edu	37	X	47098522	47098522	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:47098522G>A	ENST00000218348.3	+	2	359	c.359G>A	c.(358-360)gGg>gAg	p.G120E	USP11_ENST00000377107.2_Missense_Mutation_p.G77E	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	120	DUSP. {ECO:0000255|PROSITE- ProRule:PRU00613}.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GTGCAGGGAGGGGACCAGGAC	0.557																																						uc004dhp.2																			0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(358-360)GGG>GAG		ubiquitin specific peptidase 11							89.0	55.0	67.0					X																	47098522		2203	4300	6503	SO:0001583	missense	8237				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:47098522G>A	U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.359G>A	X.37:g.47098522G>A	ENSP00000218348:p.Gly120Glu					USP11_uc004dhq.2_5'UTR	p.G120E	NM_004651	NP_004642	P51784	UBP11_HUMAN			2	359	+			120			DUSP.		B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	ENST00000218348.3	37	c.359G>A	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811451	0.70797	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.20200	2.11;2.09	5.95	4.14	0.48551	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (3);	0.573459	0.17688	N	0.165380	T	0.13329	0.0323	L	0.29908	0.895	0.49483	D	0.999798	P	0.36974	0.576	B	0.34242	0.178	T	0.10941	-1.0608	10	0.22109	T	0.4	-11.9417	7.9206	0.29843	0.2712:0.0:0.7288:0.0	.	120	P51784	UBP11_HUMAN	E	77;120	ENSP00000366311:G77E;ENSP00000218348:G120E	ENSP00000218348:G120E	G	+	2	0	USP11	46983466	1.000000	0.71417	0.563000	0.28383	0.993000	0.82548	3.619000	0.54196	0.587000	0.29643	0.600000	0.82982	GGG		0.557	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651	
KLF8	11279	broad.mit.edu	37	X	56291902	56291902	+	Missense_Mutation	SNP	C	C	A	rs143280924		TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:56291902C>A	ENST00000468660.1	+	3	659	c.371C>A	c.(370-372)aCg>aAg	p.T124K	KLF8_ENST00000374928.3_Missense_Mutation_p.T124K	NM_007250.4	NP_009181.2	O95600	KLF8_HUMAN	Kruppel-like factor 8	124					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						GTGGTGTCCACGTCAACATCT	0.542																																						uc004dur.2																			0				ovary(1)	1						c.(370-372)ACG>AAG		Kruppel-like factor 8 isoform 1							108.0	85.0	93.0					X																	56291902		2203	4300	6503	SO:0001583	missense	11279				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:56291902C>A	U28282	CCDS14373.1, CCDS55428.1	Xp11.21	2013-01-08			ENSG00000102349	ENSG00000102349		"""Zinc fingers, C2H2-type"", ""Kruppel-like transcription factors"""	6351	protein-coding gene	gene with protein product		300286					Standard	NM_007250		Approved	BKLF3, ZNF741, DXS741	uc004dur.3	O95600	OTTHUMG00000021666	ENST00000468660.1:c.371C>A	X.37:g.56291902C>A	ENSP00000417303:p.Thr124Lys					KLF8_uc010nkg.2_Missense_Mutation_p.T119K|KLF8_uc011mop.1_Missense_Mutation_p.T124K|KLF8_uc010nkh.2_RNA	p.T124K	NM_007250	NP_009181	O95600	KLF8_HUMAN			3	1317	+			124					B4DJN3|E7EQQ8|L0R3U8|L0R4U2|Q2M246|Q59GV5|Q5HYQ5|Q5JXP7|Q6MZJ7|Q9UGC4	Missense_Mutation	SNP	ENST00000468660.1	37	c.371C>A	CCDS14373.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.917893	0.52546	.	.	ENSG00000102349	ENST00000374928;ENST00000468660	T;T	0.28895	1.59;1.59	4.5	2.7	0.31948	.	0.382273	0.25135	N	0.032869	T	0.29588	0.0738	L	0.43152	1.355	0.20926	N	0.999827	P;P;B	0.48016	0.904;0.904;0.199	P;P;B	0.48840	0.592;0.592;0.042	T	0.09314	-1.0680	10	0.72032	D	0.01	.	5.4738	0.16684	0.0:0.7458:0.0:0.2542	.	124;124;124	E7EQQ8;B4DJN3;O95600	.;.;KLF8_HUMAN	K	124	ENSP00000364063:T124K;ENSP00000417303:T124K	ENSP00000431911:T124K	T	+	2	0	KLF8	56308627	0.004000	0.15560	0.674000	0.29902	0.897000	0.52465	1.812000	0.38952	0.990000	0.38787	0.594000	0.82650	ACG		0.542	KLF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056887.2	NM_007250	
UBQLN2	29978	broad.mit.edu	37	X	56592046	56592046	+	Silent	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:56592046C>T	ENST00000338222.5	+	1	2021	c.1740C>T	c.(1738-1740)gtC>gtT	p.V580V		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	580					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						ATCCAGAAGTCAGATTTCAGC	0.512																																					Esophageal Squamous(104;218 1492 6022 10838 28884)	uc004dus.2																			0				ovary(1)|skin(1)	2						c.(1738-1740)GTC>GTT		ubiquilin 2							67.0	55.0	59.0					X																	56592046		2203	4300	6503	SO:0001819	synonymous_variant	29978					cytoplasm|nucleus|plasma membrane	binding	g.chrX:56592046C>T	AF189009	CCDS14374.1	Xp11.21	2014-09-17			ENSG00000188021	ENSG00000188021		"""Ubiquilin family"""	12509	protein-coding gene	gene with protein product	"""NEDD4 binding protein 4"""	300264				10675567	Standard	NM_013444		Approved	Chap1, Dsk2, RIHFB2157, LIC-2, CHAP1/DSK2, PLIC-2, N4BP4, PLIC2	uc004dus.3	Q9UHD9	OTTHUMG00000021669	ENST00000338222.5:c.1740C>T	X.37:g.56592046C>T						UBQLN2_uc011moq.1_Silent_p.V468V	p.V580V	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN			1	1975	+			580					O94798|Q5D027|Q9H3W6|Q9HAZ4	Silent	SNP	ENST00000338222.5	37	c.1740C>T	CCDS14374.1	.	.	.	.	.	.	.	.	.	.	C	4.017	0.000507	0.07819	.	.	ENSG00000188021	ENST00000535171	.	.	.	4.55	0.582	0.17412	.	.	.	.	.	T	0.58163	0.2103	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55679	-0.8103	5	0.87932	D	0	-9.5212	4.1668	0.10310	0.0:0.4287:0.169:0.4023	.	.	.	.	L	474	.	ENSP00000438573:S474L	S	+	2	0	UBQLN2	56608771	0.907000	0.30839	0.996000	0.52242	0.966000	0.64601	-0.037000	0.12164	-0.123000	0.11745	0.594000	0.82650	TCA		0.512	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056891.1	NM_013444	
ASB12	142689	broad.mit.edu	37	X	63445208	63445208	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:63445208G>A	ENST00000396130.2	-	1	295	c.296C>T	c.(295-297)aCg>aTg	p.T99M	ASB12_ENST00000362002.2_Missense_Mutation_p.T108M|MTMR8_ENST00000453546.1_Missense_Mutation_p.T483M			Q8WXK4	ASB12_HUMAN	ankyrin repeat and SOCS box containing 12	99					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.0?(2)		endometrium(2)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						GAAAAGTGGCGTCTGTGCCTT	0.517													G|||	3	0.000794702	0.0	0.0	3775	,	,		16740	0.002		0.0	False		,,,				2504	0.001					uc011mou.1																			2	Whole gene deletion(2)		ovary(1)|large_intestine(1)	ovary(2)|breast(2)	4						c.(1447-1449)ACG>ATG		myotubularin related protein 8							111.0	63.0	79.0					X																	63445208		2203	4300	6503	SO:0001583	missense	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63445208G>A	AF403030	CCDS14378.1, CCDS14378.2	Xq11.1	2013-01-10	2011-01-25		ENSG00000198881	ENSG00000198881		"""Ankyrin repeat domain containing"""	19763	protein-coding gene	gene with protein product		300891	"""ankyrin repeat and SOCS box-containing 12"""			12076535	Standard	NM_130388		Approved	FLJ39577		Q8WXK4	OTTHUMG00000021705	ENST00000396130.2:c.296C>T	X.37:g.63445208G>A	ENSP00000379435:p.Thr99Met					ASB12_uc004dvp.1_Missense_Mutation_p.T99M|ASB12_uc004dvq.1_Missense_Mutation_p.T108M|ASB12_uc004dvr.1_Missense_Mutation_p.T108M	p.T483M	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN			10	1516	-			Error:Variant_position_missing_in_Q96EF0_after_alignment					J3KP57|Q2M3D5|Q52LK4|Q6ISF9|Q8N8F5	Missense_Mutation	SNP	ENST00000396130.2	37	c.1448C>T		.	.	.	.	.	.	.	.	.	.	G	15.62	2.887292	0.52014	.	.	ENSG00000198881;ENSG00000198881;ENSG00000198881;ENSG00000102043	ENST00000362002;ENST00000396130;ENST00000361287;ENST00000453546	T;T;T	0.64260	-0.09;-0.09;-0.09	4.0	3.13	0.36017	Ankyrin repeat-containing domain (4);	0.050048	0.85682	D	0.000000	D	0.83046	0.5169	H	0.95884	3.735	0.27617	N	0.948463	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.909	T	0.76753	-0.2843	10	0.72032	D	0.01	-21.0413	9.6206	0.39719	0.1083:0.0:0.8917:0.0	.	483;99	B4DQL0;Q8WXK4	.;ASB12_HUMAN	M	108;99;108;483	ENSP00000355195:T108M;ENSP00000379435:T99M;ENSP00000394003:T483M	ENSP00000354626:T108M	T	-	2	0	ASB12;MTMR8	63361933	1.000000	0.71417	0.998000	0.56505	0.663000	0.39108	7.046000	0.76592	0.832000	0.34804	0.468000	0.43344	ACG		0.517	ASB12-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			
KIF4A	24137	broad.mit.edu	37	X	69595167	69595167	+	Missense_Mutation	SNP	G	G	A	rs201310458		TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:69595167G>A	ENST00000374403.3	+	17	1974	c.1892G>A	c.(1891-1893)cGt>cAt	p.R631H	KIF4A_ENST00000374388.3_Missense_Mutation_p.R631H	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	631					anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TCCACAGAGCGTACTGTCTCC	0.423																																						uc004dyg.2																			0				ovary(4)	4						c.(1891-1893)CGT>CAT		kinesin family member 4							104.0	92.0	96.0					X																	69595167		2203	4300	6503	SO:0001583	missense	24137				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chrX:69595167G>A	AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.1892G>A	X.37:g.69595167G>A	ENSP00000363524:p.Arg631His					KIF4A_uc010nkw.2_Missense_Mutation_p.R631H|KIF4A_uc004dyf.1_Missense_Mutation_p.R631H	p.R631H	NM_012310	NP_036442	O95239	KIF4A_HUMAN			17	2019	+			631			Potential.		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	ENST00000374403.3	37	c.1892G>A	CCDS14401.1	.	.	.	.	.	.	.	.	.	.	G	9.277	1.047102	0.19827	.	.	ENSG00000090889	ENST00000374388;ENST00000374403	T;T	0.17370	2.28;2.28	5.29	2.71	0.32032	.	0.560897	0.17262	N	0.180729	T	0.06600	0.0169	N	0.04508	-0.205	0.30802	N	0.739785	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.26258	-1.0108	10	0.25106	T	0.35	.	5.0031	0.14275	0.7028:0.0:0.1589:0.1383	.	631;631	O95239;O95239-2	KIF4A_HUMAN;.	H	631	ENSP00000363509:R631H;ENSP00000363524:R631H	ENSP00000363509:R631H	R	+	2	0	KIF4A	69511892	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.018000	0.30002	0.282000	0.22254	-0.354000	0.07668	CGT		0.423	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310	
ATRX	546	broad.mit.edu	37	X	76937238	76937238	+	Silent	SNP	T	T	C			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:76937238T>C	ENST00000373344.5	-	9	3724	c.3510A>G	c.(3508-3510)caA>caG	p.Q1170Q	ATRX_ENST00000395603.3_Silent_p.Q1132Q|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1170					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						ATGAAGTTCTTTGCTTCTTCT	0.348			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.3				Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		1	Unknown(1)		bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(3508-3510)CAA>CAG		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						154.0	135.0	141.0					X																	76937238		2203	4296	6499	SO:0001819	synonymous_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76937238T>C	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.3510A>G	X.37:g.76937238T>C						ATRX_uc004ecq.3_Silent_p.Q1132Q|ATRX_uc004eco.3_Silent_p.Q955Q|ATRX_uc004ecr.2_Silent_p.Q1102Q|ATRX_uc010nlx.1_Silent_p.Q1141Q|ATRX_uc010nly.1_Silent_p.Q1115Q	p.Q1170Q	NM_000489	NP_000480	P46100	ATRX_HUMAN			9	3742	-			1170					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Silent	SNP	ENST00000373344.5	37	c.3510A>G	CCDS14434.1																																																																																				0.348	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	
GPR174	84636	broad.mit.edu	37	X	78427380	78427380	+	Silent	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:78427380C>T	ENST00000276077.1	+	1	912	c.876C>T	c.(874-876)taC>taT	p.Y292Y		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	292						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CAGTCATATACTACTTTTCCA	0.398										HNSCC(63;0.18)																												uc004edg.1																			0				lung(1)|central_nervous_system(1)	2						c.(874-876)TAC>TAT		putative purinergic receptor FKSG79							144.0	123.0	130.0					X																	78427380		2203	4300	6503	SO:0001819	synonymous_variant	84636					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78427380C>T	AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"""GPCR / Class A : Orphans"""	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.876C>T	X.37:g.78427380C>T		HNSCC(63;0.18)					p.Y292Y	NM_032553	NP_115942	Q9BXC1	GP174_HUMAN			1	912	+			292			Cytoplasmic (Potential).		Q2M3F7	Silent	SNP	ENST00000276077.1	37	c.876C>T	CCDS14443.1																																																																																				0.398	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057327.1	NM_032553	
COL4A6	1288	broad.mit.edu	37	X	107412771	107412771	+	Silent	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:107412771G>A	ENST00000372216.4	-	37	3748	c.3648C>T	c.(3646-3648)atC>atT	p.I1216I	COL4A6_ENST00000334504.7_Silent_p.I1215I|COL4A6_ENST00000545689.1_Silent_p.I1191I|COL4A6_ENST00000538570.1_Silent_p.I1191I|COL4A6_ENST00000394872.2_Silent_p.I1216I	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1216	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CTGGAGCTCCGATGCCAATTC	0.577									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	uc004enw.3																			0				ovary(6)|urinary_tract(1)|large_intestine(1)	8						c.(3646-3648)ATC>ATT		type IV alpha 6 collagen isoform A precursor							72.0	52.0	59.0					X																	107412771		2203	4300	6503	SO:0001819	synonymous_variant	1288	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107412771G>A	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.3648C>T	X.37:g.107412771G>A						COL4A6_uc004env.3_Silent_p.I1215I|COL4A6_uc011msn.1_Silent_p.I1191I|COL4A6_uc010npk.2_Silent_p.I1191I	p.I1216I	NM_001847	NP_001838	Q14031	CO4A6_HUMAN			37	3751	-			1216			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Silent	SNP	ENST00000372216.4	37	c.3648C>T	CCDS14541.1																																																																																				0.577	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2		
SLC9A6	10479	broad.mit.edu	37	X	135081058	135081058	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:135081058C>T	ENST00000370698.3	+	5	663	c.628C>T	c.(628-630)Caa>Taa	p.Q210*	SLC9A6_ENST00000370695.4_Nonsense_Mutation_p.Q242*|SLC9A6_ENST00000370701.1_Nonsense_Mutation_p.Q190*	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	210					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					GGTAACGGGACAACTTGCAGG	0.353																																						uc004ezj.2																			0				ovary(1)	1						c.(628-630)CAA>TAA		solute carrier family 9 (sodium/hydrogen							201.0	179.0	187.0					X																	135081058		2203	4300	6503	SO:0001587	stop_gained	10479				regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity	g.chrX:135081058C>T	AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"""Solute carriers"""	11079	protein-coding gene	gene with protein product		300231	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 6"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 6"""			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.628C>T	X.37:g.135081058C>T	ENSP00000359732:p.Gln210*					SLC9A6_uc004ezk.2_Nonsense_Mutation_p.Q242*|SLC9A6_uc011mvx.1_Nonsense_Mutation_p.Q190*	p.Q210*	NM_006359	NP_006350	Q92581	SL9A6_HUMAN			5	704	+	Acute lymphoblastic leukemia(192;0.000127)		210					A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Nonsense_Mutation	SNP	ENST00000370698.3	37	c.628C>T	CCDS14654.1	.	.	.	.	.	.	.	.	.	.	C	37	6.062183	0.97246	.	.	ENSG00000198689	ENST00000370701;ENST00000370698;ENST00000370695	.	.	.	5.51	5.51	0.81932	.	0.167653	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	12.4376	0.55608	0.1672:0.8328:0.0:0.0	.	.	.	.	X	190;210;242	.	ENSP00000359729:Q242X	Q	+	1	0	SLC9A6	134908724	1.000000	0.71417	0.992000	0.48379	0.898000	0.52572	5.578000	0.67450	2.306000	0.77630	0.538000	0.68166	CAA		0.353	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1	NM_006359	
PLXNB3	5365	broad.mit.edu	37	X	153033730	153033730	+	Silent	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:153033730C>T	ENST00000361971.5	+	4	1227	c.1113C>T	c.(1111-1113)ggC>ggT	p.G371G	U52111.14_ENST00000416854.1_RNA|PLXNB3_ENST00000538776.1_Silent_p.G24G|PLXNB3_ENST00000538966.1_Silent_p.G394G|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538282.1_Silent_p.G24G|U52111.14_ENST00000434284.1_RNA	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	371	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCCCTGTGGCGACGAGCACA	0.687													C|||	2	0.000529801	0.0	0.0	3775	,	,		11294	0.0		0.0	False		,,,				2504	0.002					uc004fii.2																			0				lung(1)	1						c.(1111-1113)GGC>GGT		plexin B3 isoform 1							38.0	43.0	41.0					X																	153033730		2203	4298	6501	SO:0001819	synonymous_variant	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153033730C>T	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.1113C>T	X.37:g.153033730C>T						PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.1_Silent_p.G53G|PLXNB3_uc010nuk.2_Silent_p.G394G|PLXNB3_uc011mzd.1_Silent_p.G10G	p.G371G	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN			4	1287	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		371			Extracellular (Potential).|Sema.		B7Z3E6|F5H773|Q9HDA4	Silent	SNP	ENST00000361971.5	37	c.1113C>T	CCDS14729.1																																																																																				0.687	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1		
