#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
MTHFR	4524	broad.mit.edu	37	1	11861244	11861244	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr1:11861244A>G	ENST00000376592.1	-	2	577	c.449T>C	c.(448-450)cTg>cCg	p.L150P	MTHFR_ENST00000376590.3_Missense_Mutation_p.L150P|MTHFR_ENST00000376585.1_Missense_Mutation_p.L191P|MTHFR_ENST00000376583.3_Missense_Mutation_p.L191P			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	150					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	GATGTTCTTCAGGCCCAGCTG	0.602																																						uc001atb.1																			0				NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(517-519)cTg>cCg		Homo sapiens methylenetetrahydrofolate reductase (NAD(P)H) (MTHFR), mRNA.	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)						95.0	92.0	93.0					1																	11861244		2203	4300	6503	SO:0001583	missense	4524				blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding	g.chr1:11861244A>G	BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"""5,10-methylenetetrahydrofolate reductase (NADPH)"""			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.449T>C	1.37:g.11861244A>G	ENSP00000365777:p.Leu150Pro					MTHFR_uc001atc.2_Missense_Mutation_p.L150P	p.L173P	NM_005957	NP_005948	P42898	MTHR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	1	716	-	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	150					B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Missense_Mutation	SNP	ENST00000376592.1	37	c.518T>C	CCDS137.1	.	.	.	.	.	.	.	.	.	.	A	29.5	5.009281	0.93346	.	.	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585	D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16	5.66	5.66	0.87406	.	0.074981	0.56097	D	0.000030	D	0.96396	0.8824	M	0.79805	2.47	0.80722	D	1	P;D	0.61080	0.948;0.989	P;D	0.67231	0.863;0.95	D	0.96823	0.9605	10	0.72032	D	0.01	.	14.7253	0.69341	1.0:0.0:0.0:0.0	.	150;191	P42898;Q5SNW6	MTHR_HUMAN;.	P	150;191;150;191	ENSP00000365777:L150P;ENSP00000365767:L191P;ENSP00000365775:L150P;ENSP00000365770:L191P	ENSP00000365767:L191P	L	-	2	0	MTHFR	11783831	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.587000	0.90810	2.155000	0.67459	0.448000	0.29417	CTG		0.602	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006538.1	NM_005957	
IFI6	2537	broad.mit.edu	37	1	27992966	27992966	+	Missense_Mutation	SNP	C	C	T	rs74937564	byFrequency	TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr1:27992966C>T	ENST00000361157.6	-	5	446	c.319G>A	c.(319-321)Gtc>Atc	p.V107I	IFI6_ENST00000362020.4_Missense_Mutation_p.V111I|IFI6_ENST00000339145.4_Missense_Mutation_p.V115I	NM_002038.3|NM_022872.2|NM_022873.2	NP_002029.3|NP_075010.1|NP_075011.1	P09912	IFI6_HUMAN	interferon, alpha-inducible protein 6	107					cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of mitochondrial depolarization (GO:0051902)|release of cytochrome c from mitochondria (GO:0001836)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				lung(1)|ovary(1)	2		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;7.75e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TTACCTATGACGACGCTGCTG	0.542													c|||	3	0.000599042	0.0023	0.0	5008	,	,		16484	0.0		0.0	False		,,,				2504	0.0					uc001bon.1																			0				lung(1)|ovary(1)	2						c.(343-345)Gtc>Atc		Homo sapiens interferon, alpha-inducible protein 6 (IFI6), transcript variant 3, mRNA.		T	ILE/VAL,ILE/VAL,ILE/VAL	3,4403	6.2+/-15.9	0,3,2200	69.0	61.0	64.0		319,331,343	-2.0	0.0	1	dbSNP_131	64	0,8600		0,0,4300	no	missense,missense,missense	IFI6	NM_002038.3,NM_022872.2,NM_022873.2	29,29,29	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign,benign,benign	107/131,111/135,115/139	27992966	3,13003	2203	4300	6503	SO:0001583	missense	2537				anti-apoptosis|negative regulation of caspase activity|negative regulation of mitochondrial depolarization|release of cytochrome c from mitochondria|type I interferon-mediated signaling pathway	integral to membrane|mitochondrion	protein binding	g.chr1:27992966C>T	BC015603	CCDS306.1, CCDS307.1, CCDS308.1	1p35	2008-02-05	2006-04-21	2006-04-21	ENSG00000126709	ENSG00000126709			4054	protein-coding gene	gene with protein product		147572	"""interferon, alpha-inducible protein (clone IFI-6-16)"""	G1P3			Standard	NM_002038		Approved	IFI616, FAM14C, 6-16, IFI-6-16	uc001bon.1	P09912	OTTHUMG00000003518	ENST00000361157.6:c.319G>A	1.37:g.27992966C>T	ENSP00000354736:p.Val107Ile					IFI6_uc001boo.1_Missense_Mutation_p.V107I|IFI6_uc001bop.1_Missense_Mutation_p.V111I	p.V115I	NM_022873	NP_075011	P09912	IFI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	4	466	-		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;7.75e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	107					Q13141|Q13142|Q5VVR2|Q5VVR3|Q6IE95|Q969M8	Missense_Mutation	SNP	ENST00000361157.6	37	c.343G>A	CCDS306.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	0.016	-1.514999	0.00975	6.81E-4	0.0	ENSG00000126709	ENST00000361157;ENST00000339145;ENST00000362020	T;T;T	0.31769	1.48;1.48;1.48	3.29	-1.97	0.07503	.	1.364740	0.05149	N	0.495686	T	0.12518	0.0304	N	0.05050	-0.12	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.26224	-1.0109	10	0.07325	T	0.83	.	6.6641	0.23031	0.0:0.3023:0.2523:0.4455	.	111;107;115	Q5VVR2;P09912;P09912-3	.;IFI6_HUMAN;.	I	107;115;111	ENSP00000354736:V107I;ENSP00000342513:V115I;ENSP00000355152:V111I	ENSP00000342513:V115I	V	-	1	0	IFI6	27865553	0.023000	0.18921	0.000000	0.03702	0.000000	0.00434	-0.541000	0.06099	-0.417000	0.07461	-1.841000	0.00585	GTC		0.542	IFI6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009780.1	NM_022873	
LRRC40	55631	broad.mit.edu	37	1	70641517	70641517	+	Missense_Mutation	SNP	T	T	G			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr1:70641517T>G	ENST00000370952.3	-	7	1032	c.953A>C	c.(952-954)gAc>gCc	p.D318A		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	318						membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						GTTGCTTAGGTCAAGCCTTTC	0.289																																						uc001der.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						c.(952-954)gAc>gCc		Homo sapiens leucine rich repeat containing 40 (LRRC40), mRNA.							80.0	78.0	79.0					1																	70641517		2201	4299	6500	SO:0001583	missense	55631							g.chr1:70641517T>G		CCDS646.1	1p31.1	2008-02-05			ENSG00000066557	ENSG00000066557			26004	protein-coding gene	gene with protein product						12477932	Standard	NM_017768		Approved	FLJ20331	uc001der.2	Q9H9A6	OTTHUMG00000009348	ENST00000370952.3:c.953A>C	1.37:g.70641517T>G	ENSP00000359990:p.Asp318Ala						p.D318A	NM_017768	NP_060238	Q9H9A6	LRC40_HUMAN			6	1091	-			318					Q9BTR7|Q9NSK1|Q9NXC1	Missense_Mutation	SNP	ENST00000370952.3	37	c.953A>C	CCDS646.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.362931	0.82353	.	.	ENSG00000066557	ENST00000370952	T	0.60299	0.2	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.73845	0.3639	M	0.86502	2.82	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.78710	-0.2098	10	0.54805	T	0.06	.	15.197	0.73100	0.0:0.0:0.0:1.0	.	318	Q9H9A6	LRC40_HUMAN	A	318	ENSP00000359990:D318A	ENSP00000359990:D318A	D	-	2	0	LRRC40	70414105	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.392000	0.79840	2.075000	0.62263	0.477000	0.44152	GAC		0.289	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025914.1	NM_017768	
NEXN	91624	broad.mit.edu	37	1	78392171	78392171	+	Missense_Mutation	SNP	A	A	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr1:78392171A>T	ENST00000334785.7	+	7	746	c.562A>T	c.(562-564)Aat>Tat	p.N188Y	NEXN_ENST00000457030.1_Missense_Mutation_p.N174Y|NEXN_ENST00000330010.8_Missense_Mutation_p.N124Y	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AATGAAAAAGAATTTTGAGGA	0.313																																						uc001dic.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(562-564)Aat>Tat		Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA.							72.0	70.0	71.0					1																	78392171		1802	4063	5865	SO:0001583	missense	91624				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle	g.chr1:78392171A>T	AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"""Immunoglobulin superfamily / I-set domain containing"""	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.562A>T	1.37:g.78392171A>T	ENSP00000333938:p.Asn188Tyr					NEXN_uc001dia.3_Missense_Mutation_p.N174Y|NEXN_uc009wcb.1_Missense_Mutation_p.N110Y|NEXN_uc001dib.4_Missense_Mutation_p.N124Y|NEXN_uc001did.1_Missense_Mutation_p.N98Y|NEXN_uc001dif.1_Missense_Mutation_p.N80Y	p.N188Y	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN		Colorectal(170;0.114)	6	859	+			188			Glu-rich.			Missense_Mutation	SNP	ENST00000334785.7	37	c.562A>T	CCDS41351.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.83|15.83	2.948023|2.948023	0.53186|0.53186	.|.	.|.	ENSG00000162614|ENSG00000162614	ENST00000401035;ENST00000457030;ENST00000330010;ENST00000334785;ENST00000440324|ENST00000342754	T;T;T;T;T|.	0.65916|.	-0.16;0.18;0.11;0.2;-0.18|.	5.52|5.52	3.19|3.19	0.36642|0.36642	.|.	0.215935|.	0.31301|.	N|.	0.007899|.	T|T	0.48370|0.48370	0.1496|0.1496	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	P;P;P;P|.	0.52061|.	0.882;0.915;0.863;0.95|.	P;P;P;P|.	0.53360|.	0.534;0.724;0.653;0.534|.	T|T	0.47235|0.47235	-0.9133|-0.9133	10|5	0.66056|.	D|.	0.02|.	-16.9232|-16.9232	9.8922|9.8922	0.41296|0.41296	0.8517:0.0:0.1483:0.0|0.8517:0.0:0.1483:0.0	.|.	124;174;188;124|.	D3DQ79;Q0ZGT2-2;Q0ZGT2;B4DPZ7|.	.;.;NEXN_HUMAN;.|.	Y|S	124;174;124;188;174|87	ENSP00000383814:N124Y;ENSP00000388048:N174Y;ENSP00000327363:N124Y;ENSP00000333938:N188Y;ENSP00000411902:N174Y|.	ENSP00000327363:N124Y|.	N|R	+|+	1|3	0|2	NEXN|NEXN	78164759|78164759	0.999000|0.999000	0.42202|0.42202	0.986000|0.986000	0.45419|0.45419	0.992000|0.992000	0.81027|0.81027	3.081000|3.081000	0.50120|0.50120	1.040000|1.040000	0.40099|0.40099	0.533000|0.533000	0.62120|0.62120	AAT|AGA		0.313	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	NM_144573	
WDR63	126820	broad.mit.edu	37	1	85560129	85560129	+	Missense_Mutation	SNP	C	C	T	rs200151954		TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr1:85560129C>T	ENST00000294664.6	+	10	1244	c.1064C>T	c.(1063-1065)tCg>tTg	p.S355L	WDR63_ENST00000370596.1_Missense_Mutation_p.S316L|WDR63_ENST00000326813.8_Missense_Mutation_p.S316L	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	355										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		ATAGCTGTGTCGGTAGCCGTG	0.418																																						uc001dkt.3																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36						c.(1063-1065)tCg>tTg		Homo sapiens WD repeat domain 63 (WDR63), mRNA.							232.0	234.0	233.0					1																	85560129		2203	4300	6503	SO:0001583	missense	126820							g.chr1:85560129C>T		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"""WD repeat domain containing"""	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.1064C>T	1.37:g.85560129C>T	ENSP00000294664:p.Ser355Leu					WDR63_uc009wcl.3_Missense_Mutation_p.S316L	p.S355L	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	9	1255	+			355					A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	ENST00000294664.6	37	c.1064C>T	CCDS702.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509604	0.64522	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664	T;T;T	0.38887	1.11;1.11;1.11	5.81	5.81	0.92471	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.118609	0.64402	D	0.000018	T	0.65923	0.2738	M	0.87827	2.91	0.58432	D	0.999995	D;D	0.89917	1.0;0.999	D;P	0.66716	0.946;0.884	T	0.70722	-0.4794	10	0.72032	D	0.01	-17.3453	20.0795	0.97766	0.0:1.0:0.0:0.0	.	316;355	Q8IWG1-2;Q8IWG1	.;WDR63_HUMAN	L	316;316;355	ENSP00000359628:S316L;ENSP00000317463:S316L;ENSP00000294664:S355L	ENSP00000294664:S355L	S	+	2	0	WDR63	85332717	1.000000	0.71417	0.969000	0.41365	0.037000	0.13140	6.535000	0.73838	2.747000	0.94245	0.650000	0.86243	TCG		0.418	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172	
HRNR	388697	broad.mit.edu	37	1	152192836	152192836	+	Silent	SNP	A	A	G			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr1:152192836A>G	ENST00000368801.2	-	3	1344	c.1269T>C	c.(1267-1269)tcT>tcC	p.S423S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	423					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTGGCCTGGAGACTGGCCAG	0.617																																						uc001ezt.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(1267-1269)tcT>tcC		Homo sapiens hornerin (HRNR), mRNA.							77.0	78.0	77.0					1																	152192836		2203	4300	6503	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192836A>G	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1269T>C	1.37:g.152192836A>G							p.S423S	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1345	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		423					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.1269T>C	CCDS30859.1																																																																																				0.617	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868	
SPTA1	6708	broad.mit.edu	37	1	158654966	158654966	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr1:158654966C>T	ENST00000368147.4	-	2	376	c.196G>A	c.(196-198)Ggg>Agg	p.G66R		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	66					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATCCACTtccccagatcatct	0.453																																						uc001fst.1																			0		p.L65M(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(196-198)Ggg>Agg		Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.							115.0	110.0	112.0					1																	158654966		1930	4143	6073	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158654966C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.196G>A	1.37:g.158654966C>T	ENSP00000357129:p.Gly66Arg						p.G66R	NM_003126	NP_003117	P02549	SPTA1_HUMAN			1	395	-	all_hematologic(112;0.0378)		66					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.196G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454441	0.63290	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.50277	0.75;0.75	5.18	5.18	0.71444	.	0.258089	0.20325	N	0.094546	T	0.31167	0.0788	N	0.14661	0.345	0.46725	D	0.999176	B	0.28378	0.209	B	0.41271	0.352	T	0.38607	-0.9653	10	0.59425	D	0.04	.	17.4478	0.87583	0.0:1.0:0.0:0.0	.	66	P02549	SPTA1_HUMAN	R	66	ENSP00000357130:G66R;ENSP00000357129:G66R	ENSP00000357129:G66R	G	-	1	0	SPTA1	156921590	1.000000	0.71417	1.000000	0.80357	0.384000	0.30261	5.382000	0.66213	2.700000	0.92200	0.467000	0.42956	GGG		0.453	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
ANKRD30A	91074	broad.mit.edu	37	10	37506710	37506710	+	Silent	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr10:37506710G>A	ENST00000602533.1	+	33	3102	c.3003G>A	c.(3001-3003)gaG>gaA	p.E1001E	ANKRD30A_ENST00000361713.1_Silent_p.E1001E|ANKRD30A_ENST00000374660.1_Silent_p.E1120E			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1057					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAATCGAAGAGCAGCATAGGA	0.328																																						uc021ppc.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(3001-3003)gaG>gaA		Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.							68.0	68.0	68.0					10																	37506710		1814	4063	5877	SO:0001819	synonymous_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37506710G>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3003G>A	10.37:g.37506710G>A						ANKRD30A_uc001iza.1_Silent_p.E1001E	p.E1001E	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			32	3102	+			1057					Q5W025	Silent	SNP	ENST00000602533.1	37	c.3003G>A																																																																																					0.328	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997	
ADAMTS14	140766	broad.mit.edu	37	10	72495039	72495039	+	Silent	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr10:72495039C>T	ENST00000373207.1	+	9	1467	c.1467C>T	c.(1465-1467)ggC>ggT	p.G489G	ADAMTS14_ENST00000373208.1_Silent_p.G492G	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	489	Disintegrin.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TTGGCAGTGGCTACCAGACCT	0.592																																						uc001jrg.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1474-1476)ggC>ggT		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.							59.0	58.0	58.0					10																	72495039		2203	4300	6503	SO:0001819	synonymous_variant	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72495039C>T	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.1467C>T	10.37:g.72495039C>T						ADAMTS14_uc001jrh.3_Silent_p.G489G|ADAMTS14_uc001jri.1_Silent_p.G12G	p.G492G	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN			8	1476	+			489			Disintegrin.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Silent	SNP	ENST00000373207.1	37	c.1476C>T	CCDS7306.1																																																																																				0.592	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722	
PTEN	5728	broad.mit.edu	37	10	89692993	89692993	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr10:89692993G>T	ENST00000371953.3	+	5	1834	c.477G>T	c.(475-477)agG>agT	p.R159S		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	159	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R159S(7)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGGAAGTAAGGACCAGAGACA	0.368		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		57	Whole gene deletion(37)|Deletion - Frameshift(8)|Substitution - Missense(7)|Unknown(5)	p.0?(37)|p.R159S(14)|p.?(5)|p.R55fs*1(5)|p.R159K(5)|p.Y27fs*1(2)|p.R159fs*8(2)|p.Y27_N212>Y(2)|p.V158fs*22(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(11)|haematopoietic_and_lymphoid_tissue(8)|skin(6)|lung(5)|breast(3)|ovary(3)|large_intestine(2)|soft_tissue(1)|endometrium(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(475-477)agG>agT		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							53.0	55.0	54.0					10																	89692993		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692993G>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.477G>T	10.37:g.89692993G>T	ENSP00000361021:p.Arg159Ser	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.R159S	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	4	1509	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	159			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.477G>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.874058	0.91664	.	.	ENSG00000171862	ENST00000371953	D	0.99762	-6.67	5.09	5.09	0.68999	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99878	0.9942	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96285	0.9209	9	.	.	.	-3.7525	18.493	0.90854	0.0:0.0:1.0:0.0	.	159	P60484	PTEN_HUMAN	S	159	ENSP00000361021:R159S	.	R	+	3	2	PTEN	89682973	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.429000	0.97481	2.341000	0.79615	0.563000	0.77884	AGG		0.368	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
PTEN	5728	broad.mit.edu	37	10	89720852	89720852	+	Nonsense_Mutation	SNP	C	C	T	rs121909231		TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr10:89720852C>T	ENST00000371953.3	+	8	2360	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	335	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R335*(25)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R335G(1)|p.W274_F341del(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAAAGCCAACCGATACTTTTC	0.333		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		77	Whole gene deletion(37)|Substitution - Nonsense(25)|Deletion - Frameshift(9)|Deletion - In frame(3)|Unknown(2)|Substitution - Missense(1)	p.R335*(50)|p.0?(37)|p.R55fs*1(5)|p.?(2)|p.R335G(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.D326_K342del(2)|p.R335fs*8(1)|p.G165_*404del(1)|p.R335fs*4(1)|p.R335fs*7(1)|p.G165_K342del(1)|p.N334Y(1)|p.R335R(1)	central_nervous_system(25)|prostate(16)|skin(8)|haematopoietic_and_lymphoid_tissue(7)|endometrium(6)|lung(4)|breast(3)|ovary(3)|urinary_tract(2)|upper_aerodigestive_tract(1)|stomach(1)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM971278	PTEN	M	rs121909231	c.(1003-1005)Cga>Tga		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							60.0	63.0	62.0					10																	89720852		2203	4298	6501	SO:0001587	stop_gained	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720852C>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.1003C>T	10.37:g.89720852C>T	ENSP00000361021:p.Arg335*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.R335*	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	2035	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	335			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.1003C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	48	14.209601	0.99784	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.37	4.39	0.52855	.	0.053988	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4934	12.825	0.57714	0.2831:0.7169:0.0:0.0	.	.	.	.	X	335	.	.	R	+	1	2	PTEN	89710832	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.629000	0.46485	2.516000	0.84829	0.591000	0.81541	CGA		0.333	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
COL17A1	1308	broad.mit.edu	37	10	105798253	105798253	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr10:105798253G>A	ENST00000353479.5	-	45	3271	c.2981C>T	c.(2980-2982)cCg>cTg	p.P994L	COL17A1_ENST00000369733.3_Missense_Mutation_p.P949L	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	994	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.P994L(2)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGGCCCTGGCGGGCCTGACAC	0.597																																						uc001kxr.3																			2	Substitution - Missense(2)	p.P994L(4)|p.P994P(1)	prostate(1)|endometrium(1)	NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62						c.(2980-2982)cCg>cTg		Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.							62.0	71.0	68.0					10																	105798253		2200	4294	6494	SO:0001583	missense	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105798253G>A	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.2981C>T	10.37:g.105798253G>A	ENSP00000340937:p.Pro994Leu						p.P994L	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	44	3150	-		Colorectal(252;0.103)|Breast(234;0.122)	994			Triple-helical region.		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	ENST00000353479.5	37	c.2981C>T	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.541454	0.65085	.	.	ENSG00000065618	ENST00000353479;ENST00000369733	D;D	0.91945	-1.76;-2.94	4.81	4.81	0.61882	.	0.000000	0.43579	D	0.000547	D	0.93743	0.8000	L	0.45581	1.43	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91884	0.5518	10	0.23302	T	0.38	-9.4754	14.8213	0.70074	0.0:0.0:1.0:0.0	.	994	Q9UMD9	COHA1_HUMAN	L	994;949	ENSP00000340937:P994L;ENSP00000358748:P949L	ENSP00000340937:P994L	P	-	2	0	COL17A1	105788243	1.000000	0.71417	0.477000	0.27303	0.014000	0.08584	4.113000	0.57851	2.222000	0.72286	0.462000	0.41574	CCG		0.597	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494	
NANOS1	340719	broad.mit.edu	37	10	120790044	120790044	+	Missense_Mutation	SNP	T	T	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr10:120790044T>A	ENST00000425699.1	+	1	817	c.731T>A	c.(730-732)cTg>cAg	p.L244Q		NM_199461.2	NP_955631.1	Q8WY41	NANO1_HUMAN	nanos homolog 1 (Drosophila)	244					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			lung(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0193)		TGTCCCGTGCTGCGCCGCTAC	0.687																																						uc009xzf.1																			0				lung(1)	1						c.(730-732)cTg>cAg		Homo sapiens nanos homolog 1 (Drosophila) (NANOS1), mRNA.							24.0	21.0	22.0					10																	120790044		2133	4221	6354	SO:0001583	missense	340719				epithelial cell migration	perinuclear region of cytoplasm	protein binding|RNA binding|translation repressor activity|zinc ion binding	g.chr10:120790044T>A	AF275269	CCDS7607.1	10q26.13	2003-12-01			ENSG00000188613	ENSG00000188613			23044	protein-coding gene	gene with protein product		608226				12690449	Standard	NM_199461		Approved	NOS1	uc009xzf.1	Q8WY41	OTTHUMG00000019141	ENST00000425699.1:c.731T>A	10.37:g.120790044T>A	ENSP00000393275:p.Leu244Gln						p.L244Q	NM_199461	NP_955631	Q8WY41	NANO1_HUMAN		all cancers(201;0.0193)	0	817	+		Lung NSC(174;0.094)|all_lung(145;0.123)	244						Missense_Mutation	SNP	ENST00000425699.1	37	c.731T>A	CCDS7607.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.785233	0.90282	.	.	ENSG00000188613	ENST00000425699;ENST00000340087	T;T	0.72282	-0.64;-0.64	5.21	5.21	0.72293	Zinc finger, nanos-type (2);	0.000000	0.56097	D	0.000024	D	0.86602	0.5972	M	0.90019	3.08	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.89546	0.3796	10	0.87932	D	0	-16.9426	14.7376	0.69427	0.0:0.0:0.0:1.0	.	244	Q8WY41	NANO1_HUMAN	Q	244;36	ENSP00000393275:L244Q;ENSP00000345924:L36Q	ENSP00000345924:L36Q	L	+	2	0	NANOS1	120780034	1.000000	0.71417	0.973000	0.42090	0.942000	0.58702	7.637000	0.83313	1.957000	0.56846	0.482000	0.46254	CTG		0.687	NANOS1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000110794.1		
RASGRP2	10235	broad.mit.edu	37	11	64497600	64497600	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr11:64497600delC	ENST00000354024.3	-	13	1731	c.1479delG	c.(1477-1479)gggfs	p.G493fs	RASGRP2_ENST00000377497.3_Frame_Shift_Del_p.G493fs|RASGRP2_ENST00000377494.1_Frame_Shift_Del_p.G493fs|RASGRP2_ENST00000394432.3_Frame_Shift_Del_p.G493fs	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	493			G -> A (in dbSNP:rs2301562).		blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGCCCATGCGCCCCCCCAACA	0.642																																						uc009ypu.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1477-1479)gggfs		Homo sapiens RAS guanyl releasing protein 2 (calcium and DAG-regulated) (RASGRP2), transcript variant 4, mRNA.							28.0	25.0	26.0					11																	64497600		2028	3982	6010	SO:0001589	frameshift_variant	10235				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity	g.chr11:64497600delC	U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"""EF-hand domain containing"""	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.1479delG	11.37:g.64497600delC	ENSP00000338864:p.Gly493fs					RASGRP2_uc001oat.3_Frame_Shift_Del_p.G395fs|RASGRP2_uc001oau.3_Frame_Shift_Del_p.G348fs|RASGRP2_uc009ypv.3_Frame_Shift_Del_p.G493fs|RASGRP2_uc009ypw.3_Frame_Shift_Del_p.G493fs	p.G493fs	NM_001098671	NP_722541	Q7LDG7	GRP2_HUMAN			12	1706	-			493		G -> A (in dbSNP:rs2301562).			A6NDC7|O00538|Q9UL65	Frame_Shift_Del	DEL	ENST00000354024.3	37	c.1479delG	CCDS31598.1																																																																																				0.642	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142062.1	NM_153819	
OR10S1	219873	broad.mit.edu	37	11	123847486	123847486	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr11:123847486G>A	ENST00000531945.1	-	1	1002	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TCCTTGTTCCGCAAAGTGTAA	0.527																																						uc001pzm.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36						c.(913-915)Cgg>Tgg		Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.							85.0	85.0	85.0					11																	123847486		2202	4299	6501	SO:0001583	missense	219873				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123847486G>A	BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"""GPCR / Class A : Olfactory receptors"""	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.913C>T	11.37:g.123847486G>A	ENSP00000431914:p.Arg305Trp						p.R305W	NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	0	913	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	305					B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	37	c.913C>T	CCDS31701.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.858979	0.51376	.	.	ENSG00000196248	ENST00000531945	T	0.41065	1.01	4.82	1.44	0.22558	.	0.000000	0.32802	U	0.005621	T	0.61110	0.2321	M	0.76328	2.33	0.30084	N	0.808883	D	0.89917	1.0	D	0.85130	0.997	T	0.63238	-0.6682	10	0.87932	D	0	-11.5299	12.3357	0.55065	0.0:0.0:0.2969:0.703	.	305	Q8NGN2	O10S1_HUMAN	W	305	ENSP00000431914:R305W	ENSP00000431914:R305W	R	-	1	2	OR10S1	123352696	0.000000	0.05858	0.796000	0.32109	0.693000	0.40251	-0.132000	0.10467	0.538000	0.28769	0.563000	0.77884	CGG		0.527	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474	
AGAP2	116986	broad.mit.edu	37	12	58125706	58125706	+	Silent	SNP	C	C	T	rs145122115	byFrequency	TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr12:58125706C>T	ENST00000547588.1	-	8	1838	c.1839G>A	c.(1837-1839)ccG>ccA	p.P613P	AGAP2_ENST00000257897.3_Silent_p.P277P	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	613					axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						TCGGTGAGGACGGGAGGGAAG	0.622													C|||	7	0.00139776	0.0015	0.0014	5008	,	,		17516	0.0		0.001	False		,,,				2504	0.0031					uc001spq.3																			0		p.E612Q(1)		breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						c.(1837-1839)ccG>ccA		Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 (AGAP2), transcript variant 1, mRNA.		C	,	1,4405	2.1+/-5.4	0,1,2202	55.0	51.0	52.0		1839,831	-8.8	0.9	12	dbSNP_134	52	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous	AGAP2	NM_001122772.2,NM_014770.3	,	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	,	613/1193,277/837	58125706	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	116986				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr12:58125706C>T	AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16921	protein-coding gene	gene with protein product		605476	"""centaurin, gamma 1"""	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.1839G>A	12.37:g.58125706C>T						AGAP2_uc001spp.3_Silent_p.P613P|AGAP2_uc001spr.3_Silent_p.P277P	p.P613P	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN			7	1839	-			613					A8K9F7|O00578|Q548E0|Q8IWU3	Silent	SNP	ENST00000547588.1	37	c.1839G>A	CCDS44932.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	8.714	0.912723	0.17907	2.27E-4	4.65E-4	ENSG00000135439	ENST00000328568	.	.	.	4.63	-8.76	0.00830	.	.	.	.	.	T	0.49881	0.1583	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58696	-0.7591	4	.	.	.	.	10.4235	0.44365	0.1272:0.5646:0.0:0.3082	.	.	.	.	I	477	.	.	V	-	1	0	AGAP2	56411973	0.002000	0.14202	0.865000	0.33974	0.886000	0.51366	-2.005000	0.01460	-1.387000	0.02095	-1.267000	0.01435	GTC		0.622	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770	
GPR133	283383	broad.mit.edu	37	12	131487809	131487809	+	Missense_Mutation	SNP	C	C	T	rs142314859		TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr12:131487809C>T	ENST00000261654.5	+	10	1665	c.1106C>T	c.(1105-1107)aCg>aTg	p.T369M	GPR133_ENST00000535015.1_Missense_Mutation_p.T401M|GPR133_ENST00000376682.4_Missense_Mutation_p.T55M	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	369					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CACGGCAGCACGCCCCAGGTC	0.622																																						uc010tbm.2																			0		p.P401P(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(1201-1203)aCg>aTg		Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.		T	MET/THR	1,4405	2.1+/-5.4	0,1,2202	111.0	90.0	97.0		1106	-4.9	0.0	12	dbSNP_134	97	0,8600		0,0,4300	yes	missense	GPR133	NM_198827.3	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	369/875	131487809	1,13005	2203	4300	6503	SO:0001583	missense	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131487809C>T	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1106C>T	12.37:g.131487809C>T	ENSP00000261654:p.Thr369Met					GPR133_uc001uit.4_Missense_Mutation_p.T369M	p.T401M	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	10	1761	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		369					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	c.1202C>T	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	c	13.18	2.161504	0.38119	2.27E-4	0.0	ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000544673;ENST00000545900;ENST00000376682	T;T;T	0.42131	0.99;0.99;0.98	4.88	-4.89	0.03103	.	1.300820	0.04720	N	0.419124	T	0.22975	0.0555	L	0.29908	0.895	0.09310	N	1	D;P	0.55172	0.97;0.914	B;B	0.38428	0.27;0.273	T	0.32929	-0.9888	10	0.51188	T	0.08	.	2.3971	0.04393	0.2654:0.4062:0.0805:0.2479	.	401;369	B7ZLF7;Q6QNK2	.;GP133_HUMAN	M	369;401;60;65;55	ENSP00000261654:T369M;ENSP00000444425:T401M;ENSP00000365872:T55M	ENSP00000261654:T369M	T	+	2	0	GPR133	130053762	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.137000	0.15995	-0.614000	0.05687	-3.951000	0.00015	ACG		0.622	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827	
N6AMT2	221143	broad.mit.edu	37	13	21331636	21331636	+	Silent	SNP	G	G	A	rs558722857		TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr13:21331636G>A	ENST00000382758.1	-	2	149	c.102C>T	c.(100-102)ggC>ggT	p.G34G	N6AMT2_ENST00000382754.4_Silent_p.G34G|N6AMT2_ENST00000460374.1_5'UTR			Q8WVE0	N6MT2_HUMAN	N-6 adenine-specific DNA methyltransferase 2 (putative)	34						extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(3)|lung(3)	7		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)		TATCATCCTCGCCTGGCTCAA	0.418																																						uc001uno.1																			0				endometrium(1)|large_intestine(3)|lung(3)	7						c.(100-102)ggC>ggT		Homo sapiens N-6 adenine-specific DNA methyltransferase 2 (putative) (N6AMT2), mRNA.							185.0	171.0	176.0					13																	21331636		2203	4300	6503	SO:0001819	synonymous_variant	221143						methyltransferase activity|nucleic acid binding	g.chr13:21331636G>A	AK055408	CCDS9293.1	13q12.11	2006-12-14			ENSG00000150456	ENSG00000150456			27351	protein-coding gene	gene with protein product						12477932	Standard	NM_174928		Approved		uc001uno.1	Q8WVE0	OTTHUMG00000016519	ENST00000382758.1:c.102C>T	13.37:g.21331636G>A						N6AMT2_uc009zzr.1_Silent_p.G34G|N6AMT2_uc001unp.2_Non-coding_Transcript	p.G34G	NM_174928	NP_777588	Q8WVE0	N6MT2_HUMAN		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)	1	183	-		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)	34					B5G4V1	Silent	SNP	ENST00000382758.1	37	c.102C>T	CCDS9293.1																																																																																				0.418	N6AMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044083.1	NM_174928	
CHD8	57680	broad.mit.edu	37	14	21876530	21876530	+	Missense_Mutation	SNP	C	C	G			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr14:21876530C>G	ENST00000557364.1	-	13	2934	c.2671G>C	c.(2671-2673)Ggc>Cgc	p.G891R	CHD8_ENST00000399982.2_Missense_Mutation_p.G891R|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.G612R			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	891	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GCCAGACTGCCATGGTACACA	0.438																																						uc001war.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(2671-2673)Ggc>Cgc		Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.							114.0	108.0	110.0					14																	21876530		1967	4181	6148	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21876530C>G	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.2671G>C	14.37:g.21876530C>G	ENSP00000451601:p.Gly891Arg					CHD8_uc001was.2_Missense_Mutation_p.G612R|CHD8_uc001wav.1_Missense_Mutation_p.G54R	p.G891R	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	11	2736	-	all_cancers(95;0.00121)		891			Helicase ATP-binding.		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.2671G>C	CCDS53885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.8|28.8	4.948536|4.948536	0.92593|0.92593	.|.	.|.	ENSG00000100888|ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364|ENST00000555935	D;D;D|.	0.95949|.	-3.86;-3.86;-3.86|.	5.29|5.29	5.29|5.29	0.74685|0.74685	DEAD-like helicase (2);SNF2-related (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86125|0.86125	0.5858|0.5858	M|M	0.92122|0.92122	3.275|3.275	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.996|.	D|D	0.88974|0.88974	0.3403|0.3403	10|5	0.87932|.	D|.	0|.	-18.3065|-18.3065	17.8563|17.8563	0.88764|0.88764	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	891;612|.	Q9HCK8;Q9HCK8-2|.	CHD8_HUMAN;.|.	R|S	612;891;611;891|116	ENSP00000406288:G612R;ENSP00000382863:G891R;ENSP00000451601:G891R|.	ENSP00000262707:G611R|.	G|W	-|-	1|2	0|0	CHD8|CHD8	20946370|20946370	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.651000|7.651000	0.83577|0.83577	2.744000|2.744000	0.94065|0.94065	0.585000|0.585000	0.79938|0.79938	GGC|TGG		0.438	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920	
DHRS2	10202	broad.mit.edu	37	14	24109023	24109023	+	Silent	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr14:24109023C>T	ENST00000250383.6	+	4	815	c.339C>T	c.(337-339)ggC>ggT	p.G113G	DHRS2_ENST00000553896.1_3'UTR|DHRS2_ENST00000344777.7_Silent_p.G113G	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	113					C21-steroid hormone metabolic process (GO:0008207)|cellular response to oxidative stress (GO:0034599)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	carbonyl reductase (NADPH) activity (GO:0004090)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		ACTGTGGGGGCGTCGACTTCC	0.637																																						uc001wkt.4																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(337-339)ggC>ggT		Homo sapiens dehydrogenase/reductase (SDR family) member 2 (DHRS2), transcript variant 1, mRNA.							57.0	56.0	57.0					14																	24109023		2203	4300	6503	SO:0001819	synonymous_variant	10202				C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity	g.chr14:24109023C>T		CCDS9604.1, CCDS41927.1	14q11.2	2011-09-14			ENSG00000100867	ENSG00000100867		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18349	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 1"""	615194				7556196, 11944995, 16685466, 19027726	Standard	NM_182908		Approved	HEP27, SDR25C1	uc001wkt.4	Q13268	OTTHUMG00000028771	ENST00000250383.6:c.339C>T	14.37:g.24109023C>T						DHRS2_uc010aku.1_Silent_p.G113G|DHRS2_uc001wku.4_Silent_p.G113G|DHRS2_uc010akv.3_Non-coding_Transcript	p.G113G	NM_182908	NP_878912	Q13268	DHRS2_HUMAN		GBM - Glioblastoma multiforme(265;0.00659)	3	786	+			91					D3DS54|Q53GS4|Q7Z789|Q9H2R2	Silent	SNP	ENST00000250383.6	37	c.339C>T	CCDS9604.1	.	.	.	.	.	.	.	.	.	.	.	3.891	-0.023970	0.07634	.	.	ENSG00000100867	ENST00000557535	.	.	.	4.55	-9.11	0.00711	.	.	.	.	.	T	0.25494	0.0620	.	.	.	0.20307	N	0.999916	.	.	.	.	.	.	T	0.21143	-1.0254	4	.	.	.	.	8.4174	0.32678	0.2446:0.0848:0.0:0.6706	.	.	.	.	C	29	.	.	R	+	1	0	DHRS2	23178863	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.799000	0.00363	-3.801000	0.00105	-2.073000	0.00383	CGT		0.637	DHRS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000071842.2	NM_182908	
LRRC16B	90668	broad.mit.edu	37	14	24524519	24524519	+	Splice_Site	SNP	G	G	A	rs182632230		TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr14:24524519G>A	ENST00000342740.5	+	8	759	c.605G>A	c.(604-606)cGa>cAa	p.R202Q	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	202						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TTGGAGAGCCGGTAAGCAGAT	0.552													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19339	0.0		0.0	False		,,,				2504	0.0					uc001wlj.2																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52						c.e8+1		Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.							100.0	103.0	102.0					14																	24524519		2203	4300	6503	SO:0001630	splice_region_variant	90668							g.chr14:24524519G>A	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.605+1G>A	14.37:g.24524519G>A							p.R202_splice	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)	8	762	+			202					Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	c.605_splice	CCDS32054.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	17.69	3.452756	0.63290	.	.	ENSG00000186648	ENST00000342740	T	0.52754	0.65	4.43	4.43	0.53597	.	0.000000	0.64402	D	0.000002	T	0.55273	0.1910	L	0.56199	1.76	0.80722	D	1	D	0.76494	0.999	P	0.56648	0.803	T	0.54009	-0.8357	10	0.39692	T	0.17	-19.2758	12.4153	0.55490	0.0:0.0:1.0:0.0	.	202	Q8ND23	LR16B_HUMAN	Q	202	ENSP00000340467:R202Q	ENSP00000340467:R202Q	R	+	2	0	LRRC16B	23594359	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	8.988000	0.93501	2.294000	0.77228	0.313000	0.20887	CGA		0.552	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360	Missense_Mutation
NPAP1	23742	broad.mit.edu	37	15	24921169	24921169	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr15:24921169G>A	ENST00000329468.2	+	1	629	c.155G>A	c.(154-156)cGc>cAc	p.R52H		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	52					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GGCCTGTTCCGCCGGAACGCC	0.756																																						uc001ywo.3																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140						c.(154-156)cGc>cAc		Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.							13.0	17.0	16.0					15																	24921169		2166	4215	6381	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24921169G>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.155G>A	15.37:g.24921169G>A	ENSP00000333735:p.Arg52His						p.R52H	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	0	629	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	52						Missense_Mutation	SNP	ENST00000329468.2	37	c.155G>A	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	14.12	2.439867	0.43326	.	.	ENSG00000185823	ENST00000329468	T	0.07908	3.15	1.98	-0.558	0.11796	.	2.445120	0.02107	N	0.054426	T	0.06280	0.0162	N	0.22421	0.69	0.09310	N	1	B	0.23854	0.092	B	0.06405	0.002	T	0.34601	-0.9822	10	0.46703	T	0.11	.	4.3569	0.11183	0.5308:0.0:0.4692:0.0	.	52	Q9NZP6	CO002_HUMAN	H	52	ENSP00000333735:R52H	ENSP00000333735:R52H	R	+	2	0	C15orf2	22472262	0.001000	0.12720	0.000000	0.03702	0.014000	0.08584	0.047000	0.14056	-0.113000	0.11958	0.484000	0.47621	CGC		0.756	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958	
CAPN15	6650	broad.mit.edu	37	16	603459	603459	+	Silent	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr16:603459C>T	ENST00000219611.2	+	14	3567	c.3204C>T	c.(3202-3204)acC>acT	p.T1068T	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	1068					proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.T1068T(1)									CCAAGGGGACCCACAGCCCCC	0.687																																						uc002chi.3																			1	Substitution - coding silent(1)	p.T1068T(2)	breast(1)	breast(2)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(3202-3204)acC>acT		Homo sapiens small optic lobes homolog (Drosophila) (SOLH), mRNA.							48.0	51.0	50.0					16																	603459		2199	4299	6498	SO:0001819	synonymous_variant	6650				proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:603459C>T	U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"""small optic lobes (Drosophila) homolog"", ""small optic lobes homolog (Drosophila)"""	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.3204C>T	16.37:g.603459C>T						SOLH_uc002chj.3_Silent_p.T128T	p.T1068T	NM_005632	NP_005623	O75808	CAN15_HUMAN			13	3567	+		Hepatocellular(780;0.00335)	1068					B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Silent	SNP	ENST00000219611.2	37	c.3204C>T	CCDS10410.1																																																																																				0.687	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632	
WDR90	197335	broad.mit.edu	37	16	715745	715745	+	Missense_Mutation	SNP	C	C	T	rs199662983		TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr16:715745C>T	ENST00000293879.4	+	35	4378	c.4378C>T	c.(4378-4380)Cgg>Tgg	p.R1460W	WDR90_ENST00000547543.1_3'UTR|WDR90_ENST00000315764.4_Missense_Mutation_p.R59W|RHOT2_ENST00000315082.4_5'Flank|WDR90_ENST00000547944.1_Missense_Mutation_p.R59W|WDR90_ENST00000549091.1_Missense_Mutation_p.R1462W			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1460										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				TGGGAGTGTGCGGGTGTGGGC	0.672													C|||	1	0.000199681	0.0	0.0	5008	,	,		13289	0.0		0.001	False		,,,				2504	0.0					uc002cii.1																			0				endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37						c.(4378-4380)Cgg>Tgg		Homo sapiens WD repeat domain 90 (WDR90), mRNA.		C	TRP/ARG	0,4218		0,0,2109	43.0	54.0	50.0		4378	-4.7	0.7	16		50	2,8466		0,2,4232	yes	missense	WDR90	NM_145294.4	101	0,2,6341	TT,TC,CC		0.0236,0.0,0.0158	probably-damaging	1460/1749	715745	2,12684	2109	4234	6343	SO:0001583	missense	197335							g.chr16:715745C>T	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.4378C>T	16.37:g.715745C>T	ENSP00000293879:p.Arg1460Trp					WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_Non-coding_Transcript|WDR90_uc002cin.1_Missense_Mutation_p.R75W|WDR90_uc002cio.1_Missense_Mutation_p.R59W|WDR90_uc010bqx.1_Missense_Mutation_p.R59W|RHOT2_uc010uum.2_5'Flank|RHOT2_uc002cip.3_5'Flank|RHOT2_uc002ciq.3_5'Flank	p.R1460W	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN			34	4432	+		Hepatocellular(780;0.0218)	1460					Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.4378C>T	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.926421	0.73327	0.0	2.36E-4	ENSG00000161996	ENST00000549091;ENST00000293879;ENST00000547944;ENST00000315764	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	4.78	-4.67	0.03319	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.453907	0.19934	N	0.102784	T	0.82213	0.4988	M	0.89414	3.03	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.998;0.999;1.0	D	0.83388	0.0016	10	0.87932	D	0	.	17.8099	0.88612	0.5684:0.4316:0.0:0.0	.	59;59;59;1460	Q96KV7-10;Q96KV7-7;G3V201;Q96KV7	.;.;.;WDR90_HUMAN	W	1462;1460;59;59	ENSP00000448122:R1462W;ENSP00000293879:R1460W;ENSP00000449576:R59W;ENSP00000322808:R59W	ENSP00000293879:R1460W	R	+	1	2	WDR90	655746	0.773000	0.28580	0.692000	0.30179	0.915000	0.54546	-0.016000	0.12613	-1.551000	0.01706	0.561000	0.74099	CGG		0.672	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294	
OTOA	146183	broad.mit.edu	37	16	21698817	21698817	+	Silent	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr16:21698817C>T	ENST00000286149.4	+	7	484	c.483C>T	c.(481-483)ctC>ctT	p.L161L	OTOA_ENST00000388956.4_Silent_p.L82L|OTOA_ENST00000388958.3_Silent_p.L161L			Q7RTW8	OTOAN_HUMAN	otoancorin	161					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GCCTGTTTCTCATCACACTGG	0.542																																						uc002djh.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46						c.(481-483)ctC>ctT		Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.							120.0	109.0	113.0					16																	21698817		2199	4300	6499	SO:0001819	synonymous_variant	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21698817C>T	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.483C>T	16.37:g.21698817C>T						LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Silent_p.L82L	p.L161L	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	6	484	+			161					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Silent	SNP	ENST00000286149.4	37	c.483C>T																																																																																					0.542	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1		
SCNN1G	6340	broad.mit.edu	37	16	23226433	23226433	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr16:23226433C>A	ENST00000300061.2	+	13	1736	c.1593C>A	c.(1591-1593)ttC>ttA	p.F531L	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	531					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TGTCCAACTTCGGTGGCCAGC	0.547																																						uc002dlm.1																			0				NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34						c.(1591-1593)ttC>ttA		Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	Amiloride(DB00594)|Triamterene(DB00384)						88.0	70.0	76.0					16																	23226433		2197	4300	6497	SO:0001583	missense	6340				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23226433C>A	U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10602	protein-coding gene	gene with protein product		600761	"""sodium channel, nonvoltage-gated 1, gamma"", ""sodium channel, non-voltage-gated 1, gamma"""			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.1593C>A	16.37:g.23226433C>A	ENSP00000300061:p.Phe531Leu						p.F531L	NM_001039	NP_001030	P51170	SCNNG_HUMAN		GBM - Glioblastoma multiforme(48;0.0366)	12	1732	+			531					P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP	ENST00000300061.2	37	c.1593C>A	CCDS10608.1	.	.	.	.	.	.	.	.	.	.	C	2.505	-0.314385	0.05422	.	.	ENSG00000166828	ENST00000300061	T	0.62232	0.04	5.22	-3.89	0.04193	.	0.070769	0.64402	D	0.000015	T	0.36248	0.0960	N	0.17674	0.51	0.46823	D	0.999215	B	0.17038	0.02	B	0.17098	0.017	T	0.43410	-0.9393	10	0.02654	T	1	-42.7857	12.7905	0.57530	0.0:0.2933:0.0:0.7067	.	531	P51170	SCNNG_HUMAN	L	531	ENSP00000300061:F531L	ENSP00000300061:F531L	F	+	3	2	SCNN1G	23133934	0.035000	0.19736	0.906000	0.35671	0.694000	0.40290	-1.326000	0.02685	-0.895000	0.03920	-1.036000	0.02392	TTC		0.547	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254496.1	NM_001039	
ITGAD	3681	broad.mit.edu	37	16	31409190	31409190	+	Silent	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr16:31409190G>A	ENST00000389202.2	+	5	436	c.387G>A	c.(385-387)tcG>tcA	p.S129S		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	129					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGCTGGGCTCGCGCTGGGAGA	0.642																																						uc010cap.1																			0		p.G128C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(385-387)tcG>tcA		Homo sapiens integrin, alpha D (ITGAD), mRNA.							39.0	34.0	36.0					16																	31409190		2197	4300	6497	SO:0001819	synonymous_variant	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31409190G>A	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.387G>A	16.37:g.31409190G>A						ITGAD_uc010vfl.1_Silent_p.S129S|ITGAD_uc002ebv.1_Silent_p.S129S|ITGAD_uc002ebw.1_5'UTR	p.S129S	NM_005353	NP_005344	Q13349	ITAD_HUMAN			4	436	+			129					Q15575|Q15576	Silent	SNP	ENST00000389202.2	37	c.387G>A	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	G	4.454	0.084023	0.08583	.	.	ENSG00000156886	ENST00000316569	.	.	.	3.86	-3.43	0.04810	.	.	.	.	.	T	0.24044	0.0582	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33904	-0.9850	5	0.48119	T	0.1	.	1.0023	0.01479	0.1408:0.2268:0.2866:0.3459	.	.	.	.	H	37	.	ENSP00000323325:R37H	R	+	2	0	ITGAD	31316691	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-0.048000	0.11944	-0.346000	0.08312	-1.303000	0.01326	CGC		0.642	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353	
NLRC5	84166	broad.mit.edu	37	16	57054711	57054711	+	Silent	SNP	C	C	T	rs200713636	byFrequency	TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr16:57054711C>T	ENST00000262510.6	+	3	312	c.87C>T	c.(85-87)aaC>aaT	p.N29N	NLRC5_ENST00000539144.1_Silent_p.N29N|NLRC5_ENST00000308149.7_Silent_p.N29N|NLRC5_ENST00000436936.1_Silent_p.N29N	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	29					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AATGGCTGAACGCCAAGATGA	0.562													C|||	4	0.000798722	0.0	0.0	5008	,	,		14507	0.0		0.001	False		,,,				2504	0.0031					uc021tiu.1																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.(85-87)aaC>aaT		Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.							98.0	87.0	91.0					16																	57054711		2198	4300	6498	SO:0001819	synonymous_variant	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57054711C>T	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.87C>T	16.37:g.57054711C>T						NLRC5_uc021tit.1_Silent_p.N29N|NLRC5_uc010ccq.1_Non-coding_Transcript	p.N29N	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN			1	214	+		all_neural(199;0.225)	29					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Silent	SNP	ENST00000262510.6	37	c.87C>T	CCDS10773.1																																																																																				0.562	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206	
NLRC5	84166	broad.mit.edu	37	16	57088674	57088674	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr16:57088674C>T	ENST00000262510.6	+	25	3743	c.3518C>T	c.(3517-3519)aCg>aTg	p.T1173M	NLRC5_ENST00000539144.1_Missense_Mutation_p.T1173M|NLRC5_ENST00000308149.7_Missense_Mutation_p.T1173M|RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000436936.1_Missense_Mutation_p.T1173M	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1173					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CTGAGCCAGACGGGACTGTCC	0.592																																						uc021tiu.1																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.(3517-3519)aCg>aTg		Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.							194.0	204.0	200.0					16																	57088674		2198	4300	6498	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57088674C>T	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.3518C>T	16.37:g.57088674C>T	ENSP00000262510:p.Thr1173Met					NLRC5_uc021tiv.1_Missense_Mutation_p.T978M|NLRC5_uc021tiw.1_Missense_Mutation_p.T948M|NLRC5_uc010ccr.1_Non-coding_Transcript|NLRC5_uc010ccs.1_Non-coding_Transcript|NLRC5_uc002eko.1_Non-coding_Transcript|NLRC5_uc002ekq.1_5'UTR|NLRC5_uc002ekr.1_Missense_Mutation_p.T89M	p.T1173M	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN			23	3645	+		all_neural(199;0.225)	1173					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.3518C>T	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.337332	0.41398	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110;ENST00000543030	T;T;T;T;T;T	0.54279	0.58;5.46;0.58;5.46;0.58;0.58	4.88	2.76	0.32466	.	.	.	.	.	T	0.39279	0.1072	L	0.40543	1.245	0.09310	N	1	P;P;P;P;P	0.48589	0.858;0.912;0.854;0.723;0.773	B;B;B;B;B	0.38803	0.11;0.282;0.282;0.157;0.075	T	0.21999	-1.0229	9	0.51188	T	0.08	.	7.5141	0.27590	0.0:0.7853:0.0:0.2147	.	858;1173;1173;1173;1173	Q9H6Y0;Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3	.;.;.;.;NLRC5_HUMAN	M	1173;1173;1173;617;1173;650;442	ENSP00000262510:T1173M;ENSP00000308886:T1173M;ENSP00000389739:T1173M;ENSP00000441727:T1173M;ENSP00000441597:T650M;ENSP00000440153:T442M	ENSP00000262510:T1173M	T	+	2	0	NLRC5	55646175	0.007000	0.16637	0.011000	0.14972	0.028000	0.11728	0.125000	0.15749	1.167000	0.42706	0.557000	0.71058	ACG		0.592	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206	
KCTD19	146212	broad.mit.edu	37	16	67325657	67325657	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr16:67325657C>T	ENST00000304372.5	-	13	2357	c.2302G>A	c.(2302-2304)Gtg>Atg	p.V768M		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	768					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)		CTGCCCACCACGGGGGGGTGA	0.572																																						uc002esu.2																			0				endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(2302-2304)Gtg>Atg		Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA.							54.0	59.0	57.0					16																	67325657		1981	4160	6141	SO:0001583	missense	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67325657C>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.2302G>A	16.37:g.67325657C>T	ENSP00000305702:p.Val768Met					KCTD19_uc002est.2_Missense_Mutation_p.V540M|KCTD19_uc010vjj.1_Missense_Mutation_p.V511M	p.V768M	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	12	2353	-		Ovarian(137;0.192)	768					B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	37	c.2302G>A	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.847872	0.51164	.	.	ENSG00000168676	ENST00000304372	T	0.63255	-0.03	5.5	4.54	0.55810	.	0.000000	0.48286	D	0.000181	T	0.45357	0.1338	N	0.24115	0.695	0.32174	N	0.581277	P	0.52577	0.954	B	0.40659	0.336	T	0.57429	-0.7813	10	0.40728	T	0.16	-16.8196	10.7082	0.45966	0.0:0.9114:0.0:0.0886	.	768	Q17RG1	KCD19_HUMAN	M	768	ENSP00000305702:V768M	ENSP00000305702:V768M	V	-	1	0	KCTD19	65883158	0.795000	0.28851	0.957000	0.39632	0.388000	0.30384	1.418000	0.34782	2.595000	0.87683	0.462000	0.41574	GTG		0.572	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367	
PKD1L2	114780	broad.mit.edu	37	16	81187697	81187697	+	RNA	SNP	G	G	C			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr16:81187697G>C	ENST00000525539.1	-	0	4274				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GATCAGCCAGGTGGTGGGGCT	0.607																																						uc002fgh.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(4273-4275)caC>caG		Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.							62.0	67.0	65.0					16																	81187697		2044	4186	6230			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81187697G>C	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81187697G>C						PKD1L2_uc002fgg.1_Non-coding_Transcript	p.H1425Q	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			25	4275	-			1425			PLAT.		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37	c.4275C>G																																																																																					0.607	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2		
TP53	7157	broad.mit.edu	37	17	7578280	7578280	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr17:7578280G>A	ENST00000269305.4	-	6	758	c.569C>T	c.(568-570)cCt>cTt	p.P190L	TP53_ENST00000359597.4_Missense_Mutation_p.P190L|TP53_ENST00000445888.2_Missense_Mutation_p.P190L|TP53_ENST00000420246.2_Missense_Mutation_p.P190L|TP53_ENST00000413465.2_Missense_Mutation_p.P190L|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.P190L	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	190	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P190L(21)|p.0?(8)|p.?(7)|p.P190fs*57(6)|p.P190del(6)|p.A189_V197delAPPQHLIRV(4)|p.P190R(2)|p.G187fs*16(2)|p.P190F(2)|p.D186_P191delDGLAPP(1)|p.P190H(1)|p.P58fs*>33(1)|p.P191fs*18(1)|p.A189_Q192>E(1)|p.L188_P191del(1)|p.A189_P190>X(1)|p.P97fs*57(1)|p.A189fs*53(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)	ATGCTGAGGAGGGGCCAGACC	0.552		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		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"""		67	Substitution - Missense(27)|Deletion - In frame(12)|Deletion - Frameshift(11)|Whole gene deletion(8)|Unknown(6)|Complex - deletion inframe(2)|Insertion - Frameshift(1)	p.P190L(43)|p.P190fs*57(12)|p.P190del(12)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.?(7)|p.P190S(6)|p.P190F(4)|p.A189V(4)|p.P190R(4)|p.P190T(4)|p.A189T(3)|p.A189_Q192>E(2)|p.G187fs*16(2)|p.D186_P191delDGLAPP(2)|p.P190A(2)|p.A189P(2)|p.A189fs*53(2)|p.P190H(2)|p.A189G(2)|p.A189A(2)|p.L188_P191del(2)|p.A189_P190>X(2)|p.K164_P219del(1)|p.P58fs*>33(1)|p.P190P(1)|p.P191fs*18(1)|p.A189S(1)|p.P190fs*19(1)|p.A189fs*19(1)|p.A189fs*58(1)|p.A189D(1)|p.P97fs*57(1)	large_intestine(11)|upper_aerodigestive_tract(9)|skin(8)|haematopoietic_and_lymphoid_tissue(6)|breast(6)|biliary_tract(5)|bone(5)|central_nervous_system(4)|oesophagus(4)|stomach(2)|liver(2)|ovary(2)|kidney(1)|salivary_gland(1)|prostate(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						c.(568-570)cCt>cTt	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							89.0	80.0	83.0					17																	7578280		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578280G>A	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.569C>T	17.37:g.7578280G>A	ENSP00000269305:p.Pro190Leu	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.P190L|TP53_uc002gih.3_Missense_Mutation_p.P190L|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.P58L|TP53_uc010cnf.1_Missense_Mutation_p.P58L|TP53_uc002gii.1_Missense_Mutation_p.P58L|TP53_uc010cni.1_Missense_Mutation_p.P190L|TP53_uc010cnh.1_Missense_Mutation_p.P190L|TP53_uc002gij.2_Missense_Mutation_p.P190L|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.P97L|TP53_uc002gio.2_Missense_Mutation_p.P58L|TP53_uc010vug.2_Missense_Mutation_p.P151L	p.P190L	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	763	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	190		P -> A (in sporadic cancers; somatic mutation).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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.569C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.468425	0.43839	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99755	-6.64;-6.64;-6.64;-6.64;-6.64;-6.64;-6.64;-6.64	5.41	4.44	0.53790	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110931	0.64402	D	0.000010	D	0.99622	0.9862	M	0.68593	2.085	0.80722	D	1	D;P;D;P;P;P;D	0.89917	0.987;0.484;0.972;0.765;0.676;0.921;1.0	D;B;P;P;P;P;D	0.91635	0.916;0.306;0.708;0.605;0.533;0.774;0.999	D	0.97802	1.0245	10	0.87932	D	0	-9.8058	12.4639	0.55747	0.0821:0.0:0.9179:0.0	.	151;190;190;97;190;190;190	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	190;190;190;190;190;190;179;97;58;97;58	ENSP00000410739:P190L;ENSP00000352610:P190L;ENSP00000269305:P190L;ENSP00000398846:P190L;ENSP00000391127:P190L;ENSP00000391478:P190L;ENSP00000425104:P58L;ENSP00000423862:P97L	ENSP00000269305:P190L	P	-	2	0	TP53	7519005	1.000000	0.71417	0.956000	0.39512	0.034000	0.12701	7.957000	0.87870	1.422000	0.47177	0.655000	0.94253	CCT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
TP53	7157	broad.mit.edu	37	17	7578466	7578466	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr17:7578466G>T	ENST00000269305.4	-	5	653	c.464C>A	c.(463-465)aCc>aAc	p.T155N	TP53_ENST00000359597.4_Missense_Mutation_p.T155N|TP53_ENST00000445888.2_Missense_Mutation_p.T155N|TP53_ENST00000420246.2_Missense_Mutation_p.T155N|TP53_ENST00000413465.2_Missense_Mutation_p.T155N|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.T155N	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	155	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1868473}.|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation; does not induce SNAI1 degradation). {ECO:0000269|PubMed:14660794}.|T -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.T155N(22)|p.T155I(14)|p.0?(8)|p.?(5)|p.P152fs*14(4)|p.G154fs*14(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.P151_V173del23(1)|p.G154_R156delGTR(1)|p.T155fs*25(1)|p.R156_A161del(1)|p.D148_T155delDSTPPPGT(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T23N(1)|p.T62N(1)|p.T62I(1)|p.T23I(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*25(1)|p.T155_R156delTR(1)|p.T155S(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCGGACGCGGGTGCCGGGCGG	0.612		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		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"""		75	Substitution - Missense(41)|Deletion - Frameshift(14)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(5)|Insertion - Frameshift(1)	p.T155N(42)|p.G154V(41)|p.T155I(26)|p.T155P(16)|p.G154G(12)|p.G154S(9)|p.T155A(8)|p.0?(8)|p.G154D(6)|p.?(5)|p.T155T(5)|p.G154fs*14(4)|p.T155fs*23(4)|p.P152fs*14(4)|p.G154I(3)|p.G154fs*27(3)|p.T155S(3)|p.P151_V173del23(2)|p.G154fs*16(2)|p.G154_R156delGTR(2)|p.G154C(2)|p.T155fs*25(2)|p.D148_T155delDSTPPPGT(2)|p.P153fs*22(2)|p.T155_A161delTRVRAMA(2)|p.G154fs*22(2)|p.T155_R156delTR(2)|p.T155fs*26(1)|p.R156_A161del(1)|p.G154A(1)|p.D148fs*23(1)|p.Q144_G154del11(1)|p.S149fs*72(1)|p.T23N(1)|p.T62N(1)|p.T62I(1)|p.T23I(1)|p.T155_R156insDSTPPPGT(1)|p.T155fs*15(1)|p.R156fs*25(1)|p.P153_G154insX(1)	lung(14)|upper_aerodigestive_tract(11)|breast(8)|skin(6)|stomach(5)|oesophagus(5)|ovary(5)|central_nervous_system(4)|bone(4)|large_intestine(3)|liver(3)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|pancreas(2)|soft_tissue(1)	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	GRCh37	CM942117	TP53	M		c.(463-465)aCc>aAc	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							50.0	52.0	51.0					17																	7578466		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578466G>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.464C>A	17.37:g.7578466G>T	ENSP00000269305:p.Thr155Asn	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.T155N|TP53_uc002gih.3_Missense_Mutation_p.T155N|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.T23N|TP53_uc010cnf.1_Missense_Mutation_p.T23N|TP53_uc002gii.1_Missense_Mutation_p.T23N|TP53_uc010cni.1_Missense_Mutation_p.T155N|TP53_uc010cnh.1_Missense_Mutation_p.T155N|TP53_uc002gij.2_Missense_Mutation_p.T155N|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.T62N|TP53_uc002gio.2_Missense_Mutation_p.T23N|TP53_uc010vug.2_Missense_Mutation_p.T116N	p.T155N	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	658	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	155		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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.464C>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.529735	0.27387	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99778	-6.73;-6.73;-6.73;-6.73;-6.73;-6.73;-6.73;-6.73;-6.73	5.47	-0.466	0.12153	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.718085	0.14119	N	0.340173	D	0.99654	0.9872	M	0.76328	2.33	0.09310	N	1	D;P;B;P;B;P;P	0.56746	0.977;0.579;0.032;0.85;0.326;0.786;0.949	P;P;B;P;P;P;P	0.61201	0.885;0.6;0.098;0.676;0.721;0.782;0.707	D	0.99285	1.0897	10	0.87932	D	0	-6.4954	20.1723	0.98160	0.0:0.5036:0.4964:0.0	.	116;155;155;62;155;155;155	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	N	155;155;155;155;155;155;144;62;23;62;23;155	ENSP00000410739:T155N;ENSP00000352610:T155N;ENSP00000269305:T155N;ENSP00000398846:T155N;ENSP00000391127:T155N;ENSP00000391478:T155N;ENSP00000425104:T23N;ENSP00000423862:T62N;ENSP00000424104:T155N	ENSP00000269305:T155N	T	-	2	0	TP53	7519191	0.057000	0.20700	0.000000	0.03702	0.011000	0.07611	0.842000	0.27627	-0.440000	0.07211	-2.650000	0.00149	ACC		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
ODF4	146852	broad.mit.edu	37	17	8243550	8243550	+	Missense_Mutation	SNP	C	C	T	rs147153349		TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr17:8243550C>T	ENST00000328248.2	+	1	369	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C	RP11-849F2.4_ENST00000585275.1_lincRNA|ODF4_ENST00000584943.1_Intron	NM_153007.4	NP_694552.2	Q2M2E3	ODFP4_HUMAN	outer dense fiber of sperm tails 4	61					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|outer dense fiber (GO:0001520)		p.R61S(1)		endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						CTTGGGCCAGCGCCAGAACTC	0.592																																						uc002gle.1																			1	Substitution - Missense(1)	p.R61S(2)	lung(1)	endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						c.(181-183)Cgc>Tgc		Homo sapiens outer dense fiber of sperm tails 4 (ODF4), mRNA.		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	83.0	76.0	79.0		181	1.3	0.0	17	dbSNP_134	79	0,8600		0,0,4300	no	missense	ODF4	NM_153007.4	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	61/258	8243550	1,13005	2203	4300	6503	SO:0001583	missense	146852				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr17:8243550C>T	AB081120	CCDS11140.1	17p13	2010-09-27			ENSG00000184650	ENSG00000184650			19056	protein-coding gene	gene with protein product	"""cancer/testis antigen 136"""	610097					Standard	NM_153007		Approved	OPPO1, CT136	uc002gle.1	Q2M2E3	OTTHUMG00000108190	ENST00000328248.2:c.181C>T	17.37:g.8243550C>T	ENSP00000331086:p.Arg61Cys						p.R61C	NM_153007	NP_694552	Q2M2E3	ODFP4_HUMAN			0	363	+			61					Q8J021	Missense_Mutation	SNP	ENST00000328248.2	37	c.181C>T	CCDS11140.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.873941	0.51695	2.27E-4	0.0	ENSG00000184650	ENST00000328248	T	0.29397	1.57	4.34	1.26	0.21427	.	0.790513	0.11133	N	0.596122	T	0.19327	0.0464	L	0.48642	1.525	0.09310	N	1	P	0.41546	0.754	B	0.25759	0.063	T	0.16778	-1.0391	10	0.87932	D	0	-3.2119	6.0197	0.19623	0.0:0.6743:0.0:0.3257	.	61	Q2M2E3	ODFP4_HUMAN	C	61	ENSP00000331086:R61C	ENSP00000331086:R61C	R	+	1	0	ODF4	8184275	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.276000	0.18716	0.581000	0.29539	0.655000	0.94253	CGC		0.592	ODF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226996.1		
MYH13	8735	broad.mit.edu	37	17	10213133	10213133	+	Silent	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr17:10213133G>A	ENST00000418404.3	-	33	4834	c.4671C>T	c.(4669-4671)caC>caT	p.H1557H	MYH13_ENST00000252172.4_Silent_p.H1557H|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1557					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGCTCTCCTCGTGTTCCAAGG	0.498																																						uc002gmk.1																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(4669-4671)caC>caT		Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.							24.0	22.0	23.0					17																	10213133		2004	4176	6180	SO:0001819	synonymous_variant	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10213133G>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.4671C>T	17.37:g.10213133G>A							p.H1557H	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			33	4761	-			1557					O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	c.4671C>T	CCDS45613.1																																																																																				0.498	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802	
KRT27	342574	broad.mit.edu	37	17	38936090	38936090	+	Silent	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr17:38936090C>T	ENST00000301656.3	-	4	748	c.708G>A	c.(706-708)gcG>gcA	p.A236A	KRT27_ENST00000540723.1_5'Flank	NM_181537.3	NP_853515.2			keratin 27									p.A236A(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				TGCCTCCAGCCGCGCACTGAA	0.488																																						uc002hvg.3																			1	Substitution - coding silent(1)	p.A236A(2)	large_intestine(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21						c.(706-708)gcG>gcA		Homo sapiens keratin 27 (KRT27), mRNA.							48.0	51.0	50.0					17																	38936090		2203	4300	6503	SO:0001819	synonymous_variant	342574					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38936090C>T	AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30841	protein-coding gene	gene with protein product			"""keratin 25C"""	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.708G>A	17.37:g.38936090C>T							p.A236A	NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN			3	749	-		Breast(137;0.000812)	236			Linker 12.|Rod.			Silent	SNP	ENST00000301656.3	37	c.708G>A	CCDS11375.1																																																																																				0.488	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537	
SEPT4	5414	broad.mit.edu	37	17	56599396	56599396	+	Silent	SNP	C	C	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr17:56599396C>A	ENST00000317268.3	-	6	905	c.729G>T	c.(727-729)ctG>ctT	p.L243L	SEPT4_ENST00000580809.1_Silent_p.L125L|SEPT4_ENST00000580844.1_Silent_p.L144L|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000583114.1_Silent_p.L96L|SEPT4_ENST00000579371.1_Silent_p.L144L|SEPT4_ENST00000317256.6_Silent_p.L224L|SEPT4_ENST00000426861.1_Silent_p.L224L|SEPT4_ENST00000393086.1_Silent_p.L224L|SEPT4_ENST00000412945.3_Silent_p.L235L|SEPT4_ENST00000457347.2_Silent_p.L258L	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	243	Septin-type G.				apoptotic process (GO:0006915)|brain development (GO:0007420)|cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein ubiquitination (GO:0031398)|regulation of apoptotic process (GO:0042981)|sperm capacitation (GO:0048240)|sperm mitochondrion organization (GO:0030382)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm annulus (GO:0097227)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCTTTCGGTTCAGGCCACTCT	0.542																																						uc010wnx.2																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(772-774)ctG>ctT		Homo sapiens septin 4 (SEPT4), transcript variant 3, mRNA.							179.0	148.0	159.0					17																	56599396		2203	4300	6503	SO:0001819	synonymous_variant	5414				apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr17:56599396C>A	AF073312	CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1	17q22	2013-01-21	2005-01-11	2005-01-12	ENSG00000108387	ENSG00000108387		"""Septins"""	9165	protein-coding gene	gene with protein product	"""bradeoin"", ""septin-M"""	603696	"""peanut-like 2 (Drosophila)"""	PNUTL2		9889007	Standard	NM_001198713		Approved	H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART	uc002iwm.2	O43236		ENST00000317268.3:c.729G>T	17.37:g.56599396C>A						SEPT4_uc002iwk.2_Silent_p.L96L|SEPT4_uc010wnw.2_Silent_p.L96L|SEPT4_uc002iwl.2_Silent_p.L96L|SEPT4_uc002iwm.2_Silent_p.L243L|SEPT4_uc002iwo.2_Silent_p.L224L|SEPT4_uc002iwp.2_Silent_p.L224L|SEPT4_uc010wny.2_Silent_p.L235L|SEPT4_uc010dcy.2_Silent_p.L125L	p.L258L	NM_080416	NP_536341	O43236	SEPT4_HUMAN			6	919	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		243					B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Silent	SNP	ENST00000317268.3	37	c.774G>T	CCDS11610.1																																																																																				0.542	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445420.1	NM_080417	
SMG8	55181	broad.mit.edu	37	17	57290240	57290240	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr17:57290240A>G	ENST00000543872.2	+	4	2320	c.2056A>G	c.(2056-2058)Acc>Gcc	p.T686A	SMG8_ENST00000580498.1_3'UTR|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_Missense_Mutation_p.T686A			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	686					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						AGAACCTCAAACCCAAGGAGA	0.453																																						uc002ixi.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						c.(2056-2058)Acc>Gcc		Homo sapiens smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG8), mRNA.							129.0	137.0	134.0					17																	57290240		2203	4300	6503	SO:0001583	missense	55181				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	g.chr17:57290240A>G	AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.2056A>G	17.37:g.57290240A>G	ENSP00000438748:p.Thr686Ala						p.T686A	NM_018149	NP_060619	Q8ND04	SMG8_HUMAN			2	2098	+			686					Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	ENST00000543872.2	37	c.2056A>G	CCDS11615.1	.	.	.	.	.	.	.	.	.	.	A	14.37	2.516244	0.44763	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.42900	0.96;0.96	5.82	5.82	0.92795	.	0.091740	0.85682	D	0.000000	T	0.58878	0.2153	L	0.53249	1.67	0.58432	D	0.999999	D	0.63046	0.992	D	0.74348	0.983	T	0.54748	-0.8247	10	0.32370	T	0.25	-14.3639	15.365	0.74513	1.0:0.0:0.0:0.0	.	686	Q8ND04	SMG8_HUMAN	A	686	ENSP00000300917:T686A;ENSP00000438748:T686A	ENSP00000300917:T686A	T	+	1	0	SMG8	54645022	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.916000	0.75776	2.222000	0.72286	0.533000	0.62120	ACC		0.453	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149	
CASKIN2	57513	broad.mit.edu	37	17	73498060	73498062	+	In_Frame_Del	DEL	GGA	GGA	-	rs150879399	byFrequency	TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr17:73498060_73498062delGGA	ENST00000321617.3	-	18	3679_3681	c.3093_3095delTCC	c.(3091-3096)cctcca>cca	p.1031_1032PP>P	CASKIN2_ENST00000433559.2_In_Frame_Del_p.949_950PP>P	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	1031	Pro-rich.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTAGAAGCTGGAGGAGACTCGC	0.69																																						uc002joc.3																			0				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(3091-3096)cctcca>cca		Homo sapiens CASK interacting protein 2 (CASKIN2), transcript variant 1, mRNA.																																				SO:0001651	inframe_deletion	57513					cytoplasm		g.chr17:73498060_73498062delGGA	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.3093_3095delTCC	17.37:g.73498063_73498065delGGA	ENSP00000325355:p.Pro1032del					CASKIN2_uc010wsc.2_In_Frame_Del_p.949_950PP>P	p.1031_1032PP>P	NM_020753	NP_001136115	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		17	3643_3645	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		1031			Pro-rich.		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	In_Frame_Del	DEL	ENST00000321617.3	37	c.3093_3095delTCC	CCDS11723.1																																																																																				0.690	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753	
PTPRS	5802	broad.mit.edu	37	19	5221107	5221107	+	Missense_Mutation	SNP	T	T	C	rs372506721		TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr19:5221107T>C	ENST00000587303.1	-	19	3458	c.3359A>G	c.(3358-3360)aAc>aGc	p.N1120S	PTPRS_ENST00000353284.2_Missense_Mutation_p.N689S|PTPRS_ENST00000357368.4_Missense_Mutation_p.N1120S|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.N1116S|PTPRS_ENST00000588012.1_Missense_Mutation_p.N1098S|PTPRS_ENST00000592099.1_Missense_Mutation_p.N689S|PTPRS_ENST00000372412.4_Missense_Mutation_p.N1121S|PTPRS_ENST00000348075.2_Missense_Mutation_p.N1098S			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1120	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GTTGAGCAGGTTGAAGGCAGT	0.622																																						uc002mbv.3																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(3358-3360)aAc>aGc		Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.							127.0	107.0	114.0					19																	5221107		2203	4300	6503	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5221107T>C	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.3359A>G	19.37:g.5221107T>C	ENSP00000467537:p.Asn1120Ser					PTPRS_uc002mbu.1_Missense_Mutation_p.N689S|PTPRS_uc010xin.2_Missense_Mutation_p.N689S|PTPRS_uc002mbw.3_Missense_Mutation_p.N1098S|PTPRS_uc002mbx.3_Missense_Mutation_p.N693S|PTPRS_uc002mby.3_Missense_Mutation_p.N689S	p.N1120S	NM_002850	NP_002841	Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	19	3593	-			1120					O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.3359A>G	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	T	13.26	2.184265	0.38609	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.52526	0.77;0.72;0.72;0.72;0.66	3.78	2.77	0.32553	.	0.074763	0.52532	U	0.000067	T	0.36468	0.0968	L	0.47716	1.5	0.36473	D	0.867406	B;B;B;B;B;P	0.45348	0.041;0.021;0.046;0.128;0.049;0.856	B;B;B;B;B;B	0.37731	0.036;0.022;0.053;0.039;0.016;0.257	T	0.44221	-0.9342	10	0.62326	D	0.03	.	8.8812	0.35376	0.0:0.0898:0.0:0.9102	.	702;689;693;1098;1120;715	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	S	715;1121;1120;1120;1111;1116;1098;702;693;689	ENSP00000361489:N1121S;ENSP00000349932:N1120S;ENSP00000262963:N1116S;ENSP00000269907:N1098S;ENSP00000327313:N689S	ENSP00000262963:N1116S	N	-	2	0	PTPRS	5172107	0.859000	0.29813	1.000000	0.80357	0.950000	0.60333	1.002000	0.29796	0.541000	0.28827	0.459000	0.35465	AAC		0.622	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2		
EMR1	2015	broad.mit.edu	37	19	6928180	6928180	+	Silent	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr19:6928180G>A	ENST00000312053.4	+	17	2284	c.2247G>A	c.(2245-2247)ggG>ggA	p.G749G	EMR1_ENST00000381407.5_Silent_p.G608G|EMR1_ENST00000450315.3_Silent_p.G572G|EMR1_ENST00000250572.8_Silent_p.G684G|EMR1_ENST00000381404.4_Silent_p.G697G	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	749					cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CAGAGACAGGGTTCATCTGGA	0.498																																						uc002mfw.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62						c.(2245-2247)ggG>ggA		Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.							191.0	177.0	181.0					19																	6928180		2203	4300	6503	SO:0001819	synonymous_variant	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6928180G>A	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.2247G>A	19.37:g.6928180G>A						EMR1_uc010dvc.3_Silent_p.G684G|EMR1_uc010dvb.3_Silent_p.G697G|EMR1_uc010xji.2_Silent_p.G608G|EMR1_uc010xjj.2_Silent_p.G572G	p.G749G	NM_001974	NP_001965	Q14246	EMR1_HUMAN			16	2285	+	all_hematologic(4;0.166)		749					A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Silent	SNP	ENST00000312053.4	37	c.2247G>A	CCDS12175.1																																																																																				0.498	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1		
ZNF333	84449	broad.mit.edu	37	19	14829286	14829286	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr19:14829286A>G	ENST00000292530.6	+	12	1238	c.1147A>G	c.(1147-1149)Agg>Ggg	p.R383G	ZNF333_ENST00000536363.1_Missense_Mutation_p.R274G|ZNF333_ENST00000540689.2_Intron	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	383					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						TGACCTTATCAGGCATGAGAA	0.453																																					NSCLC(60;75 1281 16985 25154 29885)	uc002mzn.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						c.(1147-1149)Agg>Ggg		Homo sapiens zinc finger protein 333 (ZNF333), mRNA.							68.0	67.0	68.0					19																	14829286		2203	4300	6503	SO:0001583	missense	84449				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:14829286A>G		CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"""Zinc fingers, C2H2-type"", ""-"""	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.1147A>G	19.37:g.14829286A>G	ENSP00000292530:p.Arg383Gly					ZNF333_uc002mzk.4_Missense_Mutation_p.R274G	p.R383G	NM_032433	NP_115809	Q96JL9	ZN333_HUMAN			11	1281	+			383					Q6P2E6|Q86WS6|Q8TDL0	Missense_Mutation	SNP	ENST00000292530.6	37	c.1147A>G	CCDS12316.1	.	.	.	.	.	.	.	.	.	.	A	11.34	1.609620	0.28623	.	.	ENSG00000160961	ENST00000536363;ENST00000292530	T;T	0.56103	0.48;0.48	3.34	-0.243	0.13035	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.55273	0.1910	M	0.69523	2.12	0.25562	N	0.986984	P	0.44380	0.834	P	0.47346	0.544	T	0.49204	-0.8964	9	0.35671	T	0.21	.	10.0028	0.41940	0.4857:0.5143:0.0:0.0	.	383	Q96JL9	ZN333_HUMAN	G	274;383	ENSP00000439749:R274G;ENSP00000292530:R383G	ENSP00000292530:R383G	R	+	1	2	ZNF333	14690286	0.000000	0.05858	0.010000	0.14722	0.763000	0.43281	-1.635000	0.02018	-0.247000	0.09597	0.477000	0.44152	AGG		0.453	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466496.1	NM_032433	
OR7A17	26333	broad.mit.edu	37	19	14991924	14991924	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr19:14991924G>A	ENST00000327462.2	-	1	340	c.244C>T	c.(244-246)Ctc>Ttc	p.L82F		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					ATGTTAATGAGCATCTTTGGG	0.473																																						uc010xob.2																			0				breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12						c.(244-246)Ctc>Ttc		Homo sapiens olfactory receptor, family 7, subfamily A, member 17 (OR7A17), mRNA.							136.0	117.0	124.0					19																	14991924		2203	4300	6503	SO:0001583	missense	26333				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14991924G>A	X64993	CCDS12319.1	19p13.12	2012-08-09				ENSG00000185385		"""GPCR / Class A : Olfactory receptors"""	8363	protein-coding gene	gene with protein product						1370859	Standard	NM_030901		Approved	HTPCRX19	uc010xob.2	O14581		ENST00000327462.2:c.244C>T	19.37:g.14991924G>A	ENSP00000328144:p.Leu82Phe						p.L82F	NM_030901	NP_112163	O14581	OR7AH_HUMAN			0	244	-	Ovarian(108;0.203)		82					Q6IFQ6|Q96R98	Missense_Mutation	SNP	ENST00000327462.2	37	c.244C>T	CCDS12319.1	.	.	.	.	.	.	.	.	.	.	g	9.870	1.198811	0.22121	.	.	ENSG00000185385	ENST00000327462	T	0.00428	7.44	2.74	0.448	0.16614	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31071	U	0.008312	T	0.01523	0.0049	H	0.96720	3.87	0.23568	N	0.997391	D	0.89917	1.0	D	0.85130	0.997	T	0.32561	-0.9902	10	0.87932	D	0	.	5.9266	0.19116	0.1228:0.1962:0.681:0.0	.	82	O14581	OR7AH_HUMAN	F	82	ENSP00000328144:L82F	ENSP00000328144:L82F	L	-	1	0	OR7A17	14852924	0.161000	0.22892	0.915000	0.36163	0.073000	0.16967	0.379000	0.20585	0.228000	0.21019	-0.843000	0.03049	CTC		0.473	OR7A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466523.1	NM_030901	
PSG5	5673	broad.mit.edu	37	19	43679606	43679606	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr19:43679606G>A	ENST00000366175.3	-	4	855	c.725C>T	c.(724-726)cCc>cTc	p.P242L	PSG5_ENST00000404580.1_Missense_Mutation_p.P242L|PSG5_ENST00000342951.6_Missense_Mutation_p.P242L|PSG5_ENST00000407356.1_Missense_Mutation_p.P242L|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000599812.1_Missense_Mutation_p.P335L			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	242	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GTAAATGCTGGGGAGGTCTGG	0.498																																						uc002ovu.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(724-726)cCc>cTc		Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.							128.0	142.0	137.0					19																	43679606		2202	4295	6497	SO:0001583	missense	5673				female pregnancy	extracellular region		g.chr19:43679606G>A		CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9522	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta 1 glycoprotein"""	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.725C>T	19.37:g.43679606G>A	ENSP00000382334:p.Pro242Leu					PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.P242L	p.P242L	NM_002781	NP_002772	Q15238	PSG5_HUMAN			3	856	-		Prostate(69;0.00899)	242			Ig-like C2-type 2.		Q15239|Q96QJ1|Q9UQ75	Missense_Mutation	SNP	ENST00000366175.3	37	c.725C>T	CCDS12617.1	.	.	.	.	.	.	.	.	.	.	g	11.55	1.672213	0.29693	.	.	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000342951;ENST00000404580	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	1.25	1.25	0.21368	Immunoglobulin-like (1);	.	.	.	.	T	0.50616	0.1626	M	0.93854	3.465	0.09310	N	0.999998	D;B	0.89917	1.0;0.085	D;B	0.91635	0.999;0.269	T	0.29243	-1.0018	9	0.87932	D	0	.	5.8107	0.18465	0.0:0.0:1.0:0.0	.	335;242	Q15228;Q15238	.;PSG5_HUMAN	L	242	ENSP00000382334:P242L;ENSP00000386008:P242L;ENSP00000344413:P242L;ENSP00000385250:P242L	ENSP00000344413:P242L	P	-	2	0	PSG5	48371446	0.249000	0.23941	0.016000	0.15963	0.005000	0.04900	2.369000	0.44231	0.644000	0.30656	0.184000	0.17185	CCC		0.498	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	NM_002781	
ZNF845	91664	broad.mit.edu	37	19	53854397	53854397	+	Missense_Mutation	SNP	G	G	C	rs10415799	byFrequency	TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr19:53854397G>C	ENST00000595091.1	+	5	688	c.469G>C	c.(469-471)Gaa>Caa	p.E157Q	ZNF845_ENST00000458035.1_Missense_Mutation_p.E157Q			Q96IR2	ZN845_HUMAN	zinc finger protein 845	157					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E157Q(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTTTCAGACCGAAGGGAAAAT	0.408													.|||	1723	0.34405	0.2307	0.2882	5008	,	,		21024	0.4702		0.3738	False		,,,				2504	0.3763					uc010ydv.1																			3	Substitution - Missense(3)	p.E157Q(6)	kidney(2)|stomach(1)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(469-471)Gaa>Caa		Homo sapiens zinc finger protein 845 (ZNF845), mRNA.		G	GLN/GLU	332,1052		44,244,404	69.0	48.0	54.0		469	-1.4	0.0	19	dbSNP_119	54	1198,1984		230,738,623	no	missense	ZNF845	NM_138374.1	29	274,982,1027	CC,CG,GG		37.6493,23.9884,33.5085	benign	157/971	53854397	1530,3036	692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53854397G>C	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.469G>C	19.37:g.53854397G>C	ENSP00000470005:p.Glu157Gln					ZNF845_uc010ydw.1_Missense_Mutation_p.E157Q	p.E157Q	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN			3	586	+			157						Missense_Mutation	SNP	ENST00000595091.1	37	c.469G>C	CCDS46170.1	792	0.3626373626373626	129	0.2621951219512195	114	0.3149171270718232	283	0.49475524475524474	266	0.35092348284960423	G	1.231	-0.624000	0.03636	0.239884	0.376493	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.08282	3.11	1.2	-1.38	0.09027	.	.	.	.	.	T	0.00012	0.0000	L	0.48935	1.535	0.80722	P	0.0	B	0.28933	0.228	B	0.29663	0.105	T	0.42799	-0.9430	8	0.18276	T	0.48	.	3.6513	0.08205	0.1859:0.2581:0.556:0.0	rs10415799	157	Q96IR2	ZN845_HUMAN	Q	157	ENSP00000388311:E157Q	ENSP00000412086:E157Q	E	+	1	0	ZNF845	58546209	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.057000	0.14279	-0.374000	0.07967	0.411000	0.27672	GAA		0.408	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908	
LENG8	114823	broad.mit.edu	37	19	54969780	54969780	+	Intron	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr19:54969780C>T	ENST00000326764.5	+	15	2719				LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8											breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		AGCTCCTGGCCGCAGGCCTCC	0.602																																						uc002qfv.1																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(2209-2211)Cgc>Tgc		Homo sapiens leukocyte receptor cluster (LRC) member 8 (LENG8), mRNA.																																				SO:0001627	intron_variant	114823						protein binding	g.chr19:54969780C>T	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.2240+80C>T	19.37:g.54969780C>T						LENG8_uc002qfw.2_Intron|LENG8_uc021vbk.1_5'Flank	p.R737C			Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	13	2353	+	Ovarian(34;0.19)		740					B0VJY9|Q8IZ27|Q8NCX6	Missense_Mutation	SNP	ENST00000326764.5	37	c.2209C>T	CCDS12894.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.004996	0.35415	.	.	ENSG00000167615	ENST00000376526;ENST00000431846	T;T	0.32753	1.44;1.45	4.96	-1.56	0.08532	.	.	.	.	.	T	0.13243	0.0321	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.28586	-1.0039	7	.	.	.	.	1.2065	0.01896	0.1524:0.4285:0.1486:0.2705	.	737	F8W9Q9	.	C	737;774	ENSP00000365709:R737C;ENSP00000388053:R774C	.	R	+	1	0	LENG8	59661592	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.614000	0.05604	-0.324000	0.08589	0.555000	0.69702	CGC		0.602	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925	
KIR3DL1	3811	broad.mit.edu	37	19	55316286	55316286	+	Intron	SNP	G	G	A	rs369994438	byFrequency	TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr19:55316286G>A	ENST00000538269.1	+	2	61				KIR2DL4_ENST00000359085.4_Missense_Mutation_p.A39T|KIR2DL4_ENST00000396293.1_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000346587.4_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000357494.4_Missense_Mutation_p.A39T|KIR2DL4_ENST00000396284.2_Missense_Mutation_p.A37T|KIR2DL4_ENST00000345540.5_Missense_Mutation_p.A39T|KIR2DL4_ENST00000463062.1_3'UTR			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CTGGCCCAGCGCTGTGGTGCC	0.582													g|||	3	0.000599042	0.0	0.0	5008	,	,		10373	0.003		0.0	False		,,,				2504	0.0					uc010yfl.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23						c.(109-111)Gct>Act		Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 (KIR2DL4), transcript variant 1, mRNA.							57.0	53.0	54.0					19																	55316286		2125	3804	5929	SO:0001627	intron_variant	3805				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	g.chr19:55316286G>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-12703G>A	19.37:g.55316286G>A						KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Intron|KIR3DL2_uc002qhf.3_Intron|KIR3DL2_uc002qhg.3_Missense_Mutation_p.A39T|KIR3DL2_uc002qhi.3_Missense_Mutation_p.A39T|KIR3DL2_uc021vbn.1_Missense_Mutation_p.A39T|KIR3DL2_uc002qhh.3_Intron|KIR3DL2_uc002qhj.3_Missense_Mutation_p.A39T|KIR3DL2_uc010esd.3_Missense_Mutation_p.A39T|KIR3DL2_uc010ese.3_5'Flank	p.A37T	NM_002255	NP_002246	P43630	KI3L2_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	2	142	+			132					O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000538269.1	37	c.109G>A		.	.	.	.	.	.	.	.	.	.	G	9.490	1.100402	0.20552	.	.	ENSG00000189013	ENST00000396284;ENST00000359085;ENST00000345540;ENST00000357494;ENST00000396289	T;T;T;T;T	0.10477	2.87;2.87;2.87;2.87;2.87	1.42	-2.6	0.06190	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.926830	0.04036	U	0.302269	T	0.11153	0.0272	N	0.17800	0.525	0.09310	N	1	D;B;P;P;P;P	0.63046	0.992;0.014;0.749;0.548;0.742;0.498	P;B;B;B;B;B	0.53809	0.735;0.009;0.031;0.028;0.04;0.028	T	0.10941	-1.0608	10	0.66056	D	0.02	.	2.7592	0.05302	0.0:0.3124:0.2696:0.418	.	39;37;39;39;39;39	Q99706;E7EST5;Q8N741;Q99706-4;Q99706-2;Q99706-3	KI2L4_HUMAN;.;.;.;.;.	T	37;39;39;39;37	ENSP00000379580:A37T;ENSP00000351988:A39T;ENSP00000339634:A39T;ENSP00000350088:A39T;ENSP00000379584:A37T	ENSP00000339634:A39T	A	+	1	0	KIR2DL4	60008098	0.000000	0.05858	0.001000	0.08648	0.136000	0.21042	-0.839000	0.04368	-0.753000	0.04721	0.205000	0.17691	GCT		0.582	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289	
NLRP4	147945	broad.mit.edu	37	19	56369522	56369522	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr19:56369522C>T	ENST00000301295.6	+	3	1185	c.763C>T	c.(763-765)Cgg>Tgg	p.R255W	NLRP4_ENST00000587891.1_Missense_Mutation_p.R180W|NLRP4_ENST00000346986.5_Missense_Mutation_p.R255W	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	255	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.R255R(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GATGGAGAAACGGCCGGTGCA	0.577																																						uc002qmd.4																			1	Substitution - coding silent(1)	p.R255R(1)	lung(1)	breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(763-765)Cgg>Tgg		Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.							79.0	85.0	83.0					19																	56369522		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56369522C>T	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.763C>T	19.37:g.56369522C>T	ENSP00000301295:p.Arg255Trp					NLRP4_uc002qmf.3_Missense_Mutation_p.R180W|NLRP4_uc010etf.3_Missense_Mutation_p.R86W	p.R255W	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	2	1185	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	255			NACHT.		Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.763C>T	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.646717	0.47258	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.79141	-1.24;-1.24	4.1	1.73	0.24493	NACHT nucleoside triphosphatase (1);	.	.	.	.	D	0.83436	0.5254	L	0.55990	1.75	0.09310	N	1	B;D;D	0.89917	0.007;0.984;1.0	B;P;D	0.75484	0.007;0.584;0.986	T	0.71507	-0.4572	9	0.66056	D	0.02	.	10.5133	0.44874	0.343:0.657:0.0:0.0	.	255;180;255	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	W	255	ENSP00000301295:R255W;ENSP00000344787:R255W	ENSP00000301295:R255W	R	+	1	2	NLRP4	61061334	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.883000	0.04170	1.043000	0.40175	0.655000	0.94253	CGG		0.577	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444	
LTBP1	4052	broad.mit.edu	37	2	33335817	33335817	+	Splice_Site	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr2:33335817G>A	ENST00000404816.2	+	4	1385	c.1032G>A	c.(1030-1032)caG>caA	p.Q344Q	LTBP1_ENST00000354476.3_Splice_Site_p.Q344Q			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	344					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CACCTTTTCAGCGTGAGTATA	0.423																																						uc021vft.1																			0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.e4+1		Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.							112.0	107.0	109.0					2																	33335817		2203	4300	6503	SO:0001630	splice_region_variant	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33335817G>A		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.1033+1G>A	2.37:g.33335817G>A							p.L345_splice	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			4	1056	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	345					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Silent	SNP	ENST00000404816.2	37	c.1033_splice	CCDS33177.2																																																																																				0.423	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943	Silent
KRCC1	51315	broad.mit.edu	37	2	88327482	88327482	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr2:88327482C>T	ENST00000347055.3	-	4	994	c.601G>A	c.(601-603)Gag>Aag	p.E201K		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	201	Lys-rich.									cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						ATTTCCACCTCTGTTTTCTTT	0.398																																						uc002sso.1																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.(601-603)Gag>Aag		Homo sapiens lysine-rich coiled-coil 1 (KRCC1), mRNA.							150.0	161.0	157.0					2																	88327482		2203	4300	6503	SO:0001583	missense	51315							g.chr2:88327482C>T	AF208845	CCDS2000.1	2p11.2	2008-02-05			ENSG00000172086	ENSG00000172086			28039	protein-coding gene	gene with protein product						12477932	Standard	XM_005264360		Approved	FLJ22333	uc002sso.1	Q9NPI7	OTTHUMG00000130315	ENST00000347055.3:c.601G>A	2.37:g.88327482C>T	ENSP00000340083:p.Glu201Lys					KRCC1_uc002ssp.1_Missense_Mutation_p.E201K|KRCC1_uc021vko.1_Missense_Mutation_p.E201K	p.E201K	NM_016618	NP_057702	Q9NPI7	KRCC1_HUMAN			3	995	-			201			Lys-rich.		Q3B7J7	Missense_Mutation	SNP	ENST00000347055.3	37	c.601G>A	CCDS2000.1	.	.	.	.	.	.	.	.	.	.	C	8.924	0.961838	0.18583	.	.	ENSG00000172086	ENST00000347055	T	0.32023	1.47	5.91	0.458	0.16670	.	0.367698	0.24920	N	0.034551	T	0.11965	0.0291	N	0.08118	0	0.22017	N	0.999414	B	0.19583	0.037	B	0.19148	0.024	T	0.30446	-0.9978	10	0.15499	T	0.54	.	6.6614	0.23016	0.0:0.5783:0.1284:0.2932	.	201	Q9NPI7	KRCC1_HUMAN	K	201	ENSP00000340083:E201K	ENSP00000340083:E201K	E	-	1	0	KRCC1	88108597	0.253000	0.23982	0.009000	0.14445	0.641000	0.38312	0.789000	0.26886	0.021000	0.15133	0.603000	0.83216	GAG		0.398	KRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252664.1	NM_016618	
IL18RAP	8807	broad.mit.edu	37	2	103057838	103057838	+	Splice_Site	SNP	G	G	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr2:103057838G>T	ENST00000264260.2	+	7	1385		c.e7+1		AC007278.3_ENST00000450893.1_RNA|IL18RAP_ENST00000409369.1_Splice_Site	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein						cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GTAGAACTTGGTAAGCTGGGC	0.433																																						uc002tbx.3																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						c.e7+1		Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.							119.0	99.0	106.0					2																	103057838		2203	4300	6503	SO:0001630	splice_region_variant	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103057838G>T	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.796+1G>T	2.37:g.103057838G>T						IL18RAP_uc010fiz.3_Splice_Site_p.G124_splice	p.G266_splice	NM_003853	NP_003844	O95256	I18RA_HUMAN			7	1280	+			266			Ig-like C2-type 2.		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Splice_Site	SNP	ENST00000264260.2	37	c.796_splice	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.391359	0.42410	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.93	0.63989	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IL18RAP	102424270	1.000000	0.71417	1.000000	0.80357	0.441000	0.31987	4.677000	0.61634	2.365000	0.80145	0.491000	0.48974	.		0.433	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853	Intron
C2orf27A	29798	broad.mit.edu	37	2	132508374	132508374	+	5'UTR	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr2:132508374G>A	ENST00000355171.4	+	0	443					NM_013310.3	NP_037442.3	Q580R0	CB027_HUMAN	chromosome 2 open reading frame 27A											kidney(1)	1						ATCAATTTTTGTGCATTCCCA	0.383																																						uc002ttf.1																			0				kidney(1)	1								Homo sapiens chromosome 2 open reading frame 27A (C2orf27A), mRNA.																																				SO:0001623	5_prime_UTR_variant	29798							g.chr2:132508374G>A	AF038169	CCDS2168.1	2q21.2	2010-05-11	2009-04-02	2009-04-02	ENSG00000197927	ENSG00000197927			25077	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 27"""	C2orf27		9110174, 8619474	Standard	NM_013310		Approved		uc002ttf.1	Q580R0	OTTHUMG00000131666	ENST00000355171.4:c.-79G>A	2.37:g.132508374G>A								NM_013310	NP_037442	Q580R0	CB027_HUMAN			1		+								O43575|Q2M1X0|Q52M10|Q86XG2	Translation_Start_Site	SNP	ENST00000355171.4	37		CCDS2168.1																																																																																				0.383	C2orf27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254569.4	NM_013310	
LRP2	4036	broad.mit.edu	37	2	170009381	170009381	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr2:170009381A>G	ENST00000263816.3	-	67	12674	c.12389T>C	c.(12388-12390)cTt>cCt	p.L4130P		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4130					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TTCCTGCACAAGATTATTGCG	0.478																																						uc002ues.3																			0		p.N4129N(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(12388-12390)cTt>cCt		Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						237.0	233.0	235.0					2																	170009381		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170009381A>G		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.12389T>C	2.37:g.170009381A>G	ENSP00000263816:p.Leu4130Pro						p.L4130P	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	66	12602	-			4130					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.12389T>C	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	A	6.249	0.413983	0.11870	.	.	ENSG00000081479	ENST00000263816	D	0.91295	-2.82	5.59	-4.66	0.03329	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.502542	0.23098	N	0.051949	T	0.72606	0.3481	N	0.01209	-0.955	0.44388	D	0.997298	B	0.02656	0.0	B	0.01281	0.0	T	0.44907	-0.9297	10	0.29301	T	0.29	.	17.7911	0.88553	0.1862:0.0:0.8138:0.0	.	4130	P98164	LRP2_HUMAN	P	4130	ENSP00000263816:L4130P	ENSP00000263816:L4130P	L	-	2	0	LRP2	169717627	0.810000	0.29049	0.003000	0.11579	0.278000	0.26855	1.243000	0.32767	-0.948000	0.03668	-0.993000	0.02533	CTT		0.478	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
LRP2	4036	broad.mit.edu	37	2	170101420	170101420	+	Silent	SNP	C	C	T	rs530329919	byFrequency	TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr2:170101420C>T	ENST00000263816.3	-	22	3498	c.3213G>A	c.(3211-3213)gcG>gcA	p.A1071A	LRP2_ENST00000443831.1_Silent_p.A934A	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1071	LDL-receptor class A 9. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CACAGGTGAACGCCGAAGATG	0.473													C|||	2	0.000399361	0.0	0.0	5008	,	,		21331	0.0		0.0	False		,,,				2504	0.002					uc002ues.3																			0		p.S1070L(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(3211-3213)gcG>gcA		Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						162.0	138.0	146.0					2																	170101420		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170101420C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.3213G>A	2.37:g.170101420C>T						LRP2_uc010zdf.1_Silent_p.A934A	p.A1071A	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	21	3426	-			1071			LDL-receptor class A 9.		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.3213G>A	CCDS2232.1																																																																																				0.473	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
UBR3	130507	broad.mit.edu	37	2	170929938	170929940	+	Splice_Site	DEL	GAA	GAA	-			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr2:170929938_170929940delGAA	ENST00000272793.5	+	36	5070_5072	c.5020_5022delGAA	c.(5020-5022)gaadel	p.E1677del	UBR3_ENST00000418381.1_Splice_Site_p.E1677del|UBR3_ENST00000392631.1_Splice_Site_p.E498del			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1677					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TGTCTAAAAGGAAGAAGAAGAAT	0.379																																						uc010zdi.2																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						c.(5020-5022)gaadel		Homo sapiens ubiquitin protein ligase E3 component n-recognin 3 (putative) (UBR3), mRNA.																																				SO:0001630	splice_region_variant	130507				sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:170929938_170929940delGAA	AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.5020-1GAA>-	2.37:g.170929947_170929949delGAA						UBR3_uc002ufr.4_Non-coding_Transcript|UBR3_uc010fqa.3_In_Frame_Del_p.E498del|UBR3_uc002uft.4_In_Frame_Del_p.E534del|UBR3_uc010zdj.2_In_Frame_Del_p.E368del|UBR3_uc002ufu.4_In_Frame_Del_p.E183del	p.E1677del	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN			35	5020_5022	+			1677					B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	In_Frame_Del	DEL	ENST00000272793.5	37	c.5020_5022delGAA																																																																																					0.379	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070	In_Frame_Del
AOX1	316	broad.mit.edu	37	2	201478598	201478598	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr2:201478598C>T	ENST00000374700.2	+	15	1761	c.1520C>T	c.(1519-1521)gCg>gTg	p.A507V	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	507					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)	p.A507V(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TTGGGCTCGGCGCCAGGTGGG	0.473																																						uc002uvx.3																			1	Substitution - Missense(1)	p.A507V(2)|p.A507A(1)	lung(1)	breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81						c.(1519-1521)gCg>gTg		Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						94.0	91.0	92.0					2																	201478598		2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201478598C>T	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.1520C>T	2.37:g.201478598C>T	ENSP00000363832:p.Ala507Val					AOX1_uc010zhf.2_Missense_Mutation_p.A63V|AOX1_uc010fsu.3_5'UTR	p.A507V	NM_001159	NP_001150	Q06278	ADO_HUMAN			14	1621	+			507					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.1520C>T	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675041	0.67928	.	.	ENSG00000138356	ENST00000374700	T	0.22945	1.93	5.33	5.33	0.75918	CO dehydrogenase flavoprotein, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.33206	0.0855	L	0.45744	1.44	0.80722	D	1	P	0.37708	0.606	B	0.43155	0.41	T	0.03212	-1.1060	10	0.49607	T	0.09	-45.5491	19.2079	0.93742	0.0:1.0:0.0:0.0	.	507	Q06278	ADO_HUMAN	V	507	ENSP00000363832:A507V	ENSP00000363832:A507V	A	+	2	0	AOX1	201186843	0.999000	0.42202	0.681000	0.30009	0.039000	0.13416	4.275000	0.58927	2.768000	0.95171	0.655000	0.94253	GCG		0.473	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159	
MAPK1	5594	broad.mit.edu	37	22	22142672	22142672	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr22:22142672G>A	ENST00000215832.6	-	6	918	c.730C>T	c.(730-732)Ctt>Ttt	p.L244F	MAPK1_ENST00000398822.3_Missense_Mutation_p.L244F|MAPK1_ENST00000544786.1_Intron	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	244	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of protein stability (GO:0031647)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|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)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	GGGGATCCAAGAATACCTATC	0.353																																						uc002zvn.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(730-732)Ctt>Ttt		Homo sapiens mitogen-activated protein kinase 1 (MAPK1), transcript variant 1, mRNA.	Arsenic trioxide(DB01169)						74.0	81.0	79.0					22																	22142672		2203	4300	6503	SO:0001583	missense	5594				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|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|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr22:22142672G>A	M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.730C>T	22.37:g.22142672G>A	ENSP00000215832:p.Leu244Phe					MAPK1_uc002zvo.3_Missense_Mutation_p.L244F|MAPK1_uc010gtk.1_Intron	p.L244F	NM_002745	NP_620407	P28482	MK01_HUMAN		READ - Rectum adenocarcinoma(21;0.0689)	5	970	-	Colorectal(54;0.105)	all_lung(157;3.89e-05)	244			Protein kinase.		A8CZ64	Missense_Mutation	SNP	ENST00000215832.6	37	c.730C>T	CCDS13795.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.429166	0.83776	.	.	ENSG00000100030	ENST00000215832;ENST00000415911;ENST00000398822	T;T	0.51817	0.69;0.69	6.03	5.02	0.67125	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.64114	0.2569	M	0.69248	2.105	0.80722	D	1	D	0.67145	0.996	D	0.63283	0.913	T	0.66448	-0.5921	10	0.87932	D	0	-0.7567	14.7365	0.69419	0.0686:0.0:0.9314:0.0	.	244	P28482	MK01_HUMAN	F	244;232;244	ENSP00000215832:L244F;ENSP00000381803:L244F	ENSP00000215832:L244F	L	-	1	0	MAPK1	20472672	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.628000	0.67791	2.854000	0.98071	0.655000	0.94253	CTT		0.353	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075396.2		
IL2RB	3560	broad.mit.edu	37	22	37524496	37524496	+	Silent	SNP	G	G	T	rs143704470		TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr22:37524496G>T	ENST00000216223.5	-	10	1494	c.1296C>A	c.(1294-1296)ccC>ccA	p.P432P		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	432					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CGAGGAGACTGGGGGAGAAGA	0.662																																						uc003aqv.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23						c.(1294-1296)ccC>ccA		Homo sapiens interleukin 2 receptor, beta (IL2RB), mRNA.	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	G		1,4393		0,1,2196	15.0	16.0	16.0		1296	-5.7	0.0	22	dbSNP_134	16	0,8564		0,0,4282	no	coding-synonymous	IL2RB	NM_000878.2		0,1,6478	TT,TG,GG		0.0,0.0228,0.0077		432/552	37524496	1,12957	2197	4282	6479	SO:0001819	synonymous_variant	3560				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	g.chr22:37524496G>T	M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"""Interleukins and interleukin receptors"", ""CD molecules"""	6009	protein-coding gene	gene with protein product		146710	"""interleukin 15 receptor, beta"""	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.1296C>A	22.37:g.37524496G>T							p.P432P	NM_000878	NP_000869	P14784	IL2RB_HUMAN			9	1427	-			432					B2R765	Silent	SNP	ENST00000216223.5	37	c.1296C>A	CCDS13942.1																																																																																				0.662	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318792.1		
TMPPE	643853	broad.mit.edu	37	3	33134390	33134390	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr3:33134390C>A	ENST00000342462.4	-	2	1488	c.1298G>T	c.(1297-1299)gGg>gTg	p.G433V	GLB1_ENST00000307377.8_Intron|GLB1_ENST00000445488.2_Intron|GLB1_ENST00000307363.5_Intron|TMPPE_ENST00000416695.2_Missense_Mutation_p.G296V|GLB1_ENST00000399402.3_Intron	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN	transmembrane protein with metallophosphoesterase domain	433						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						CATGGGTATCCCGTAGTAGGC	0.592																																						uc003cfk.2																			0				breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						c.(1297-1299)gGg>gTg		Homo sapiens transmembrane protein with metallophosphoesterase domain (TMPPE), transcript variant 1, mRNA.							63.0	59.0	60.0					3																	33134390		2203	4300	6503	SO:0001583	missense	643853					integral to membrane	metal ion binding	g.chr3:33134390C>A	AK126979	CCDS33732.1, CCDS46786.1	3p22.3	2014-02-12	2009-02-24		ENSG00000188167	ENSG00000188167			33865	protein-coding gene	gene with protein product							Standard	NM_001039770		Approved	FLJ45032	uc003cfk.2	Q6ZT21	OTTHUMG00000155779	ENST00000342462.4:c.1298G>T	3.37:g.33134390C>A	ENSP00000343398:p.Gly433Val					GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Missense_Mutation_p.G296V|TMPPE_uc021wux.1_Missense_Mutation_p.G433V	p.G433V	NM_001039770	NP_001129710	Q6ZT21	TMPPE_HUMAN			1	1510	-			433					B2RNG5|Q6ZRG1	Missense_Mutation	SNP	ENST00000342462.4	37	c.1298G>T	CCDS33732.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104641	0.77096	.	.	ENSG00000188167	ENST00000416695;ENST00000342462	.	.	.	5.65	5.65	0.86999	.	0.000000	0.56097	D	0.000027	D	0.83413	0.5249	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.84892	0.0837	9	0.87932	D	0	-18.7126	17.6706	0.88216	0.0:1.0:0.0:0.0	.	433	Q6ZT21	TMPPE_HUMAN	V	296;433	.	ENSP00000343398:G433V	G	-	2	0	TMPPE	33109394	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.760000	0.68793	2.941000	0.99782	0.655000	0.94253	GGG		0.592	TMPPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341566.1	NM_001039770	
TMF1	7110	broad.mit.edu	37	3	69075241	69075241	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr3:69075241T>C	ENST00000398559.2	-	14	2981	c.2765A>G	c.(2764-2766)aAg>aGg	p.K922R	CTD-2013N24.2_ENST00000597366.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|TMF1_ENST00000489370.1_5'UTR|CTD-2013N24.2_ENST00000595925.1_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.K925R|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	922					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		AGAAAATGGCTTGCGTTCCTT	0.393																																						uc011bfx.2																			0		p.S925Y(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(2773-2775)aAg>aGg		Homo sapiens TATA element modulatory factor 1 (TMF1), mRNA.							99.0	95.0	96.0					3																	69075241		1890	4121	6011	SO:0001583	missense	7110				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	g.chr3:69075241T>C		CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.2765A>G	3.37:g.69075241T>C	ENSP00000381567:p.Lys922Arg					TMF1_uc003dnn.3_Missense_Mutation_p.K922R	p.K925R	NM_007114	NP_009045	P82094	TMF1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)	13	3021	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	922					B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	ENST00000398559.2	37	c.2774A>G	CCDS43105.1	.	.	.	.	.	.	.	.	.	.	T	9.111	1.006572	0.19199	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248	T;T	0.48836	0.8;0.8	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.34424	0.0897	L	0.36672	1.1	0.50171	D	0.999857	B;B	0.14805	0.011;0.004	B;B	0.14023	0.01;0.003	T	0.13388	-1.0511	10	0.11794	T	0.64	-18.2333	10.9114	0.47110	0.1405:0.0:0.0:0.8595	.	925;922	P82094-2;P82094	.;TMF1_HUMAN	R	922;925;838	ENSP00000381567:K922R;ENSP00000438706:K925R	ENSP00000348582:K838R	K	-	2	0	TMF1	69157931	1.000000	0.71417	0.615000	0.29064	0.991000	0.79684	4.283000	0.58977	2.019000	0.59389	0.477000	0.44152	AAG		0.393	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114	
CPN2	1370	broad.mit.edu	37	3	194062679	194062679	+	Silent	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr3:194062679G>A	ENST00000323830.3	-	2	842	c.753C>T	c.(751-753)aaC>aaT	p.N251N	CPN2_ENST00000429275.1_Silent_p.N251N	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	251					protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GCGTGATGGCGTTGCGTTGCA	0.602																																						uc003fts.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27						c.(751-753)aaC>aaT		Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.							43.0	45.0	44.0					3																	194062679		2203	4300	6503	SO:0001819	synonymous_variant	1370				protein stabilization	extracellular region	enzyme regulator activity	g.chr3:194062679G>A	J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"""carboxypeptidase N, polypeptide 2, 83kD"""	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.753C>T	3.37:g.194062679G>A						CPN2_uc021xix.1_Silent_p.N251N	p.N251N	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)	1	843	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		251					B2RPE7|Q86SU4|Q8N5V4	Silent	SNP	ENST00000323830.3	37	c.753C>T	CCDS33920.1																																																																																				0.602	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342856.2	NM_001080513	
RGS12	6002	broad.mit.edu	37	4	3432638	3432638	+	Missense_Mutation	SNP	C	C	T	rs200575024		TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr4:3432638C>T	ENST00000344733.5	+	17	4974	c.4070C>T	c.(4069-4071)cCg>cTg	p.P1357L	RGS12_ENST00000382788.3_Missense_Mutation_p.P1357L|RGS12_ENST00000338806.4_Missense_Mutation_p.P709L|RGS12_ENST00000538395.1_3'UTR|RGS12_ENST00000336727.3_Missense_Mutation_p.P1357L	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1357					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)	p.P1357L(1)		autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACCTTGCTGCCGCCGCCCTCC	0.667																																						uc003ggw.3																			1	Substitution - Missense(1)	p.P1357L(2)	prostate(1)	autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(4069-4071)cCg>cTg		Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.							24.0	30.0	28.0					4																	3432638		2200	4297	6497	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3432638C>T	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.4070C>T	4.37:g.3432638C>T	ENSP00000339381:p.Pro1357Leu					RGS12_uc003ggv.3_Missense_Mutation_p.P1357L|RGS12_uc003ggy.1_3'UTR|RGS12_uc003ggz.3_Missense_Mutation_p.P709L|RGS12_uc011bvs.2_3'UTR|RGS12_uc003gha.3_Missense_Mutation_p.P699L|RGS12_uc010icv.3_Missense_Mutation_p.P556L	p.P1357L	NM_198229	NP_937872	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	16	4974	+			1357					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.4070C>T	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.854001	0.51270	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000338806	T;T;T;T	0.41065	1.47;1.48;1.48;1.01	4.69	4.69	0.59074	.	0.145355	0.45867	D	0.000332	T	0.61073	0.2318	L	0.58810	1.83	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.74348	0.983;0.983;0.963;0.983	T	0.65286	-0.6205	10	0.72032	D	0.01	-28.5636	16.6297	0.85030	0.0:1.0:0.0:0.0	.	699;709;1357;1357	O14924-2;O14924-3;O14924;O14924-4	.;.;RGS12_HUMAN;.	L	1357;1357;1357;709	ENSP00000339381:P1357L;ENSP00000338509:P1357L;ENSP00000372238:P1357L;ENSP00000342133:P709L	ENSP00000338509:P1357L	P	+	2	0	RGS12	3402436	0.996000	0.38824	0.864000	0.33941	0.020000	0.10135	3.249000	0.51437	2.170000	0.68504	0.655000	0.94253	CCG		0.667	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926	
GABRB1	2560	broad.mit.edu	37	4	47405592	47405592	+	Silent	SNP	G	G	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr4:47405592G>T	ENST00000295454.3	+	7	991	c.699G>T	c.(697-699)ctG>ctT	p.L233L	GABRB1_ENST00000538619.1_Silent_p.L163L	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	233					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATCCACGACTGTCACTAAGTT	0.398																																						uc003gxh.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(697-699)ctG>ctT		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						178.0	156.0	163.0					4																	47405592		2203	4300	6503	SO:0001819	synonymous_variant	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47405592G>T		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.699G>T	4.37:g.47405592G>T						GABRB1_uc011bze.2_Silent_p.L163L	p.L233L	NM_000812	NP_000803	P18505	GBRB1_HUMAN			6	1073	+			233					B2R6U7|D6REL3|Q16166|Q8TBK3	Silent	SNP	ENST00000295454.3	37	c.699G>T	CCDS3474.1																																																																																				0.398	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1		
PDGFRA	5156	broad.mit.edu	37	4	55133901	55133901	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr4:55133901G>A	ENST00000257290.5	+	7	1445	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	372	Ig-like C2-type 4.				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)	AAAGATTCAGGAAATAAGGTA	0.463			"""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.4				Dom	yes		4	4q11-q13	5156	"""Mis, O, T"""	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""		0				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						c.(1114-1116)Gaa>Aaa		Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						36.0	35.0	35.0					4																	55133901		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.chr4:55133901G>A	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.1114G>A	4.37:g.55133901G>A	ENSP00000257290:p.Glu372Lys	TSP Lung(21;0.16)				PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.E266K|PDGFRA_uc003ham.2_Non-coding_Transcript	p.E372K	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	1445	+	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)		372			Ig-like C2-type 4.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.1114G>A	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	34	5.351694	0.95830	.	.	ENSG00000134853	ENST00000257290	T	0.54279	0.58	5.79	5.79	0.91817	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.000000	0.32901	U	0.005519	T	0.72590	0.3479	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.989	T	0.66106	-0.6006	10	0.21014	T	0.42	.	20.0361	0.97558	0.0:0.0:1.0:0.0	.	372;372	P16234-3;P16234	.;PGFRA_HUMAN	K	372	ENSP00000257290:E372K	ENSP00000257290:E372K	E	+	1	0	PDGFRA	54828658	1.000000	0.71417	0.994000	0.49952	0.931000	0.56810	7.928000	0.87587	2.745000	0.94114	0.462000	0.41574	GAA		0.463	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206	
PDGFRA	5156	broad.mit.edu	37	4	55144136	55144136	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr4:55144136G>C	ENST00000257290.5	+	14	2296	c.1965G>C	c.(1963-1965)ttG>ttC	p.L655F	FIP1L1_ENST00000507166.1_Missense_Mutation_p.L415F	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	655	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	GGCCACATTTGAACATTGTAA	0.458			"""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.4				Dom	yes		4	4q11-q13	5156	"""Mis, O, T"""	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""		0				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						c.(1963-1965)ttG>ttC		Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						82.0	82.0	82.0					4																	55144136		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.chr4:55144136G>C	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.1965G>C	4.37:g.55144136G>C	ENSP00000257290:p.Leu655Phe	TSP Lung(21;0.16)				PDGFRA_uc003haa.3_Missense_Mutation_p.L415F|PDGFRA_uc010igq.1_Missense_Mutation_p.L549F|PDGFRA_uc003ham.2_Non-coding_Transcript|PDGFRA_uc003hao.1_Missense_Mutation_p.L34F	p.L655F	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)		13	2296	+	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)		655			Protein kinase.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.1965G>C	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.807746	0.70797	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	D;D	0.89196	-2.48;-2.48	5.83	-3.28	0.05033	Serine-threonine/tyrosine-protein kinase (1);Tyrosine-protein kinase, receptor class III, conserved site (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.26836	U	0.022255	D	0.89462	0.6722	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.86183	0.1607	10	0.72032	D	0.01	.	8.5019	0.33163	0.2338:0.2428:0.5234:0.0	.	655;655	P16234-3;P16234	.;PGFRA_HUMAN	F	415;655	ENSP00000423325:L415F;ENSP00000257290:L655F	ENSP00000423325:L415F	L	+	3	2	FIP1L1;PDGFRA	54838893	1.000000	0.71417	0.827000	0.32855	0.946000	0.59487	0.798000	0.27014	-0.325000	0.08577	-0.258000	0.10820	TTG		0.458	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206	
CLOCK	9575	broad.mit.edu	37	4	56304530	56304532	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr4:56304530_56304532delCTG	ENST00000309964.4	-	21	2528_2530	c.2278_2280delCAG	c.(2278-2280)cagdel	p.Q760del	CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	760	Gln-rich.|Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			cctgggagctctgctgctgctgc	0.512																																						uc003haz.1																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(2278-2280)cagdel		Homo sapiens clock homolog (mouse) (CLOCK), mRNA.																																				SO:0001651	inframe_deletion	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56304530_56304532delCTG	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.2278_2280delCAG	4.37:g.56304539_56304541delCTG	ENSP00000308741:p.Gln760del					CLOCK_uc003hba.1_In_Frame_Del_p.Q760del|CLOCK_uc010igu.1_Non-coding_Transcript	p.Q760del	NM_004898	NP_004889	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		22	3204_3206	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		760			Gln-rich.		A0AV01|A2I2N9|O14516|Q9UIT8	In_Frame_Del	DEL	ENST00000309964.4	37	c.2278_2280delCAG	CCDS3500.1																																																																																				0.512	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898	
GRID2	2895	broad.mit.edu	37	4	94411879	94411879	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr4:94411879G>A	ENST00000282020.4	+	12	2206	c.1948G>A	c.(1948-1950)Gca>Aca	p.A650T	GRID2_ENST00000510992.1_Missense_Mutation_p.A555T	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	650					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		ATCTTACACGGCAAACCTCGC	0.438																																						uc011cdt.2																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1948-1950)Gca>Aca		Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	L-Glutamic Acid(DB00142)						162.0	162.0	162.0					4																	94411879		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94411879G>A	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1948G>A	4.37:g.94411879G>A	ENSP00000282020:p.Ala650Thr					GRID2_uc011cdu.2_Missense_Mutation_p.A555T	p.A650T	NM_001510	NP_001501	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	11	2206	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	650					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.1948G>A	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549547	0.86127	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.74315	-0.83;-0.83	5.37	5.37	0.77165	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	D	0.90731	0.7091	H	0.95043	3.615	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.77004	0.989;0.989	D	0.93309	0.6683	10	0.87932	D	0	.	19.1096	0.93312	0.0:0.0:1.0:0.0	.	555;650	E9PH24;O43424	.;GRID2_HUMAN	T	650;555	ENSP00000282020:A650T;ENSP00000421257:A555T	ENSP00000282020:A650T	A	+	1	0	GRID2	94630902	1.000000	0.71417	0.995000	0.50966	0.403000	0.30841	9.434000	0.97515	2.509000	0.84616	0.591000	0.81541	GCA		0.438	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2		
NEUROG2	63973	broad.mit.edu	37	4	113436257	113436257	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr4:113436257C>T	ENST00000313341.3	-	2	701	c.375G>A	c.(373-375)atG>atA	p.M125I	RP11-402J6.1_ENST00000504009.1_RNA|RP11-402J6.1_ENST00000506057.1_RNA	NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	125	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				axon guidance (GO:0007411)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	E-box binding (GO:0070888)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		TGAGGTTGTGCATGCGGTTTC	0.672																																						uc003ias.3																			0				central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12						c.(373-375)atG>atA		Homo sapiens neurogenin 2 (NEUROG2), mRNA.							65.0	59.0	61.0					4																	113436257		2202	4300	6502	SO:0001583	missense	63973				positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding	g.chr4:113436257C>T	AF303002	CCDS3698.1	4q25	2013-05-21			ENSG00000178403	ENSG00000178403		"""Basic helix-loop-helix proteins"""	13805	protein-coding gene	gene with protein product		606624					Standard	NM_024019		Approved	Atoh4, Math4A, ngn-2, bHLHa8, NGN2	uc003ias.3	Q9H2A3	OTTHUMG00000132907	ENST00000313341.3:c.375G>A	4.37:g.113436257C>T	ENSP00000317333:p.Met125Ile					NEUROG2_uc021xqu.1_Missense_Mutation_p.M125I	p.M125I	NM_024019	NP_076924	Q9H2A3	NGN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00168)	1	702	-		Ovarian(17;0.156)	125			Helix-loop-helix motif.		Q8N416	Missense_Mutation	SNP	ENST00000313341.3	37	c.375G>A	CCDS3698.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309289	0.81247	.	.	ENSG00000178403	ENST00000313341	D	0.97994	-4.65	3.76	3.76	0.43208	Helix-loop-helix DNA-binding (5);	0.000000	0.53938	U	0.000051	D	0.98535	0.9511	M	0.84511	2.7	0.80722	D	1	D	0.63046	0.992	D	0.70227	0.968	D	0.99204	1.0874	10	0.87932	D	0	-13.4746	13.1517	0.59492	0.0:1.0:0.0:0.0	.	125	Q9H2A3	NGN2_HUMAN	I	125	ENSP00000317333:M125I	ENSP00000317333:M125I	M	-	3	0	NEUROG2	113655706	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.189000	0.77747	1.931000	0.55961	0.563000	0.77884	ATG		0.672	NEUROG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256414.1	NM_024019	
PRDM9	56979	broad.mit.edu	37	5	23526957	23526957	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr5:23526957G>A	ENST00000296682.3	+	11	1942	c.1760G>A	c.(1759-1761)cGg>cAg	p.R587Q		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	587					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GAGTGTGGGCGGGGCTTTAGC	0.607										HNSCC(3;0.000094)																												uc003jgo.3																			0		p.R587R(1)|p.G586G(1)|p.R587W(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(1759-1761)cGg>cAg		Homo sapiens PR domain containing 9 (PRDM9), mRNA.							43.0	50.0	48.0					5																	23526957		2168	4271	6439	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526957G>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1760G>A	5.37:g.23526957G>A	ENSP00000296682:p.Arg587Gln	HNSCC(3;0.000094)					p.R587Q	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			10	1942	+			587					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.1760G>A	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.756557	0.31137	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.18960	2.18	2.31	0.4	0.16331	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13670	0.0331	L	0.35542	1.07	0.24273	N	0.995235	P	0.39094	0.659	B	0.36885	0.235	T	0.16335	-1.0406	9	0.52906	T	0.07	-0.8007	5.1423	0.14965	0.4462:0.0:0.5538:0.0	.	587	Q9NQV7	PRDM9_HUMAN	Q	587;353	ENSP00000296682:R587Q	ENSP00000253473:R353Q	R	+	2	0	PRDM9	23562714	0.000000	0.05858	0.984000	0.44739	0.605000	0.37080	0.445000	0.21677	0.068000	0.16574	0.400000	0.26472	CGG		0.607	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227	
ANXA2R	389289	broad.mit.edu	37	5	43040058	43040058	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr5:43040058C>A	ENST00000314890.3	-	2	1510	c.91G>T	c.(91-93)Gaa>Taa	p.E31*	AC025171.1_ENST00000451894.2_RNA|AC025171.1_ENST00000505541.1_RNA	NM_001014279.2	NP_001014301.1	Q3ZCQ2	AX2R_HUMAN	annexin A2 receptor	31																	CCACGATCTTCTGAACTCACA	0.567											OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003jnf.3																			0											c.(91-93)Gaa>Taa		Homo sapiens chromosome 5 open reading frame 39 (C5orf39), mRNA.							41.0	47.0	45.0					5																	43040058		2203	4300	6503	SO:0001587	stop_gained	389289						receptor activity	g.chr5:43040058C>A	BC067873	CCDS34153.1	5p12	2013-08-14	2012-03-09	2012-03-09	ENSG00000177721	ENSG00000177721			33463	protein-coding gene	gene with protein product		611296	"""chromosome 5 open reading frame 39"""	C5orf39		16895901, 18636554	Standard	NM_001014279		Approved	AXIIR	uc003jnf.3	Q3ZCQ2	OTTHUMG00000162232	ENST00000314890.3:c.91G>T	5.37:g.43040058C>A	ENSP00000315915:p.Glu31*		OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	913	LOC153684_uc003jng.2_5'Flank|LOC153684_uc003jni.2_5'Flank	p.E31*	NM_001014279	NP_001014301	Q3ZCQ2	AX2R_HUMAN			0	390	-			31					Q8NHX5	Nonsense_Mutation	SNP	ENST00000314890.3	37	c.91G>T	CCDS34153.1	.	.	.	.	.	.	.	.	.	.	C	45	11.802152	0.99604	.	.	ENSG00000177721	ENST00000314890	.	.	.	3.37	1.53	0.23141	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	4.8338	0.13454	0.0:0.6567:0.2199:0.1234	.	.	.	.	X	31	.	ENSP00000315915:E31X	E	-	1	0	C5orf39	43075815	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.631000	0.24568	0.408000	0.25621	0.655000	0.94253	GAA		0.567	ANXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368030.1	NM_001014279	
MAP3K1	4214	broad.mit.edu	37	5	56168506	56168506	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr5:56168506T>C	ENST00000399503.3	+	8	1462	c.1462T>C	c.(1462-1464)Tgt>Cgt	p.C488R		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	488					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ACCTTTAATATGTCCCCTTTG	0.279																																						uc003jqw.4																			0		p.Y488Y(1)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(1462-1464)Tgt>Cgt		Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.							82.0	78.0	79.0					5																	56168506		1787	4061	5848	SO:0001583	missense	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56168506T>C	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.1462T>C	5.37:g.56168506T>C	ENSP00000382423:p.Cys488Arg						p.C488R	NM_005921	NP_005912	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	7	1963	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	488						Missense_Mutation	SNP	ENST00000399503.3	37	c.1462T>C	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.187077	0.78789	.	.	ENSG00000095015	ENST00000399503	D	0.99809	-6.86	5.97	5.97	0.96955	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	D	0.99641	0.9868	L	0.59436	1.845	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.97766	1.0223	10	0.87932	D	0	.	16.4461	0.83932	0.0:0.0:0.0:1.0	.	488	Q13233	M3K1_HUMAN	R	488	ENSP00000382423:C488R	ENSP00000382423:C488R	C	+	1	0	MAP3K1	56204263	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.908000	0.75730	2.285000	0.76669	0.528000	0.53228	TGT		0.279	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066	
GPR98	84059	broad.mit.edu	37	5	89989726	89989726	+	Silent	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr5:89989726C>T	ENST00000405460.2	+	33	7249	c.7153C>T	c.(7153-7155)Ctg>Ttg	p.L2385L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2385					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTTTGGTCGGCTGTTGTTGTT	0.428																																						uc003kju.3																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(7153-7155)Ctg>Ttg		Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.							50.0	48.0	49.0					5																	89989726		1901	4116	6017	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89989726C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.7153C>T	5.37:g.89989726C>T						GPR98_uc003kjt.3_Silent_p.L91L|GPR98_uc003kjv.3_5'UTR	p.L2385L	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	32	7249	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2385					O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.7153C>T	CCDS47246.1																																																																																				0.428	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
FBN2	2201	broad.mit.edu	37	5	127728841	127728841	+	Silent	SNP	G	G	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr5:127728841G>T	ENST00000508053.1	-	16	2426	c.1452C>A	c.(1450-1452)atC>atA	p.I484I	FBN2_ENST00000508989.1_Silent_p.I451I|FBN2_ENST00000262464.4_Silent_p.I484I			P35556	FBN2_HUMAN	fibrillin 2	484					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GTCCAGTGATGATAGGTCCCT	0.498																																						uc003kuu.3																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(1450-1452)atC>atA		Homo sapiens fibrillin 2 (FBN2), mRNA.							78.0	91.0	87.0					5																	127728841		2203	4300	6503	SO:0001819	synonymous_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127728841G>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.1452C>A	5.37:g.127728841G>T						FBN2_uc003kuv.2_Silent_p.I451I	p.I484I	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	9	1891	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	484					B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	c.1452C>A	CCDS34222.1																																																																																				0.498	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	
PCDHGB4	8641	broad.mit.edu	37	5	140768969	140768969	+	Silent	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr5:140768969C>T	ENST00000519479.1	+	1	1518	c.1518C>T	c.(1516-1518)agC>agT	p.S506S	PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	506	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCCATAAGCGCGGAGAGCG	0.662																																						uc003lkc.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1516-1518)agC>agT		Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.							54.0	60.0	58.0					5																	140768969		2017	4179	6196	SO:0001819	synonymous_variant	8641				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140768969C>T	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1518C>T	5.37:g.140768969C>T						PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	p.S506S	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1518	+			510			Cadherin 5.		O15099|Q2M267|Q9UN64	Silent	SNP	ENST00000519479.1	37	c.1518C>T	CCDS54928.1																																																																																				0.662	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736	
UHRF1BP1	54887	broad.mit.edu	37	6	34827265	34827265	+	Silent	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr6:34827265G>A	ENST00000192788.5	+	14	3303	c.3132G>A	c.(3130-3132)gtG>gtA	p.V1044V	UHRF1BP1_ENST00000452449.2_Silent_p.V1044V	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1044							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGGAAGCTGTGTCCCTGACTA	0.517																																						uc003oju.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(3130-3132)gtG>gtA		Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.							113.0	117.0	116.0					6																	34827265		2114	4223	6337	SO:0001819	synonymous_variant	54887							g.chr6:34827265G>A	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.3132G>A	6.37:g.34827265G>A						UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_Non-coding_Transcript	p.V1044V	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN			13	3366	+			1044					Q9NXE0	Silent	SNP	ENST00000192788.5	37	c.3132G>A	CCDS43455.1																																																																																				0.517	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754	
MYO6	4646	broad.mit.edu	37	6	76599857	76599858	+	Frame_Shift_Ins	INS	-	-	A	rs551348450	byFrequency	TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr6:76599857_76599858insA	ENST00000369977.3	+	26	2881_2882	c.2742_2743insA	c.(2743-2745)aaafs	p.K915fs	MYO6_ENST00000369981.3_Frame_Shift_Ins_p.K915fs|MYO6_ENST00000369985.4_Frame_Shift_Ins_p.K915fs|MYO6_ENST00000369975.1_Frame_Shift_Ins_p.K915fs	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	915					actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)	p.K917fs*10(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GTGCATTACAGAAAAAAAAACA	0.381													AAAAAAAAA|AAAAAAAAA|AAAAAAAAAA|insertion	18	0.00359425	0.0083	0.0014	5008	,	,		16538	0.0		0.0	False		,,,				2504	0.0061					uc003pih.1																			1	Deletion - Frameshift(1)	p.K917fs*10(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2740-2745)cagaaafs		Homo sapiens myosin VI (MYO6), mRNA.				9,4255		0,9,2123						5.8	1.0			86	31,8223		0,31,4096	no	frameshift	MYO6	NM_004999.3		0,40,6219	A1A1,A1R,RR		0.3756,0.2111,0.3195				40,12478				SO:0001589	frameshift_variant	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76599857_76599858insA	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.2751dupA	6.37:g.76599866_76599866dupA	ENSP00000358994:p.Lys915fs					MYO6_uc003pig.1_Frame_Shift_Ins_p.Q914fs|MYO6_uc003pii.1_Frame_Shift_Ins_p.Q914fs	p.Q914fs	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	25	3021_3022	+		all_hematologic(105;0.189)	914					A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Frame_Shift_Ins	INS	ENST00000369977.3	37	c.2742_2743insA	CCDS34487.1																																																																																				0.381	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999	
Unknown	0	broad.mit.edu	37	7	63680474	63680474	+	IGR	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr7:63680474G>A								GUSBP6 (69375 upstream) : ZNF679 (8377 downstream)																							AATTCATACTGGAGAGAAACC	0.403																																						uc011kdn.2																			0											c.(1045-1047)Gga>Aga		Homo sapiens zinc finger protein 735 (ZNF735), mRNA.							51.0	58.0	56.0					7																	63680474		692	1591	2283	SO:0001628	intergenic_variant	730291				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63680474G>A																													7.37:g.63680474G>A							p.G349R	NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN			3	1045	+			349						Missense_Mutation	SNP		37	c.1045G>A																																																																																				0	0.403								
TAF6	6878	broad.mit.edu	37	7	99706049	99706049	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr7:99706049G>A	ENST00000344095.4	-	13	1924	c.1399C>T	c.(1399-1401)Cgg>Tgg	p.R467W	TAF6_ENST00000437822.2_Missense_Mutation_p.R504W|AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000453269.2_Missense_Mutation_p.R467W|TAF6_ENST00000418432.2_Missense_Mutation_p.R391W|TAF6_ENST00000472509.1_Missense_Mutation_p.R524W|TAF6_ENST00000452041.1_Missense_Mutation_p.R467W	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	467					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCTGGGCCCGAGCCTTGACC	0.642																																						uc003uth.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26						c.(1570-1572)Cgg>Tgg		Homo sapiens TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa (TAF6), transcript variant 2, mRNA.							51.0	58.0	56.0					7																	99706049		2203	4300	6503	SO:0001583	missense	6878				negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:99706049G>A		CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"""TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD"", ""transcription initiation factor TFIID 70 kD subunit"""	602955	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"""	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.1399C>T	7.37:g.99706049G>A	ENSP00000344537:p.Arg467Trp					AP4M1_uc003utd.3_Intron|TAF6_uc003utg.3_Missense_Mutation_p.R389W|TAF6_uc003utm.3_Missense_Mutation_p.R467W|TAF6_uc003uti.3_Missense_Mutation_p.R467W|TAF6_uc003utk.3_Missense_Mutation_p.R467W|TAF6_uc011kji.2_Missense_Mutation_p.R504W	p.R524W	NM_139315	NP_647476	P49848	TAF6_HUMAN			11	1707	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		467					A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Missense_Mutation	SNP	ENST00000344095.4	37	c.1570C>T	CCDS5686.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.970953	0.74246	.	.	ENSG00000106290	ENST00000453269;ENST00000472509;ENST00000452041;ENST00000344095;ENST00000418432;ENST00000437822	T;T;T;T;T	0.73363	-0.6;-0.74;-0.6;-0.6;-0.72	5.58	3.71	0.42584	.	0.000000	0.85682	D	0.000000	D	0.82346	0.5017	M	0.78049	2.395	0.53005	D	0.999962	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.69654	0.948;0.965;0.924;0.924;0.924	T	0.82394	-0.0479	10	0.87932	D	0	-27.9857	5.8627	0.18757	0.0892:0.0:0.5513:0.3595	.	504;467;457;467;391	B4DT11;P49848-2;A4D299;P49848;B3KUR4	.;.;.;TAF6_HUMAN;.	W	467;524;467;467;391;504	ENSP00000389575:R467W;ENSP00000419760:R524W;ENSP00000416396:R467W;ENSP00000344537:R467W;ENSP00000399982:R504W	ENSP00000344537:R467W	R	-	1	2	TAF6	99543985	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.041000	0.49807	1.296000	0.44742	0.491000	0.48974	CGG		0.642	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337024.2	NM_005641	
GRM8	2918	broad.mit.edu	37	7	126173406	126173406	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr7:126173406A>G	ENST00000339582.2	-	9	2838	c.2030T>C	c.(2029-2031)tTt>tCt	p.F677S	GRM8_ENST00000444921.2_Missense_Mutation_p.F677S|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.F677S			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	677					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CCCCTGCTCAAATATTCGGTG	0.502										HNSCC(24;0.065)																												uc003vlr.2																			0		p.I676M(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(2029-2031)tTt>tCt		Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)						91.0	84.0	86.0					7																	126173406		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173406A>G		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.2030T>C	7.37:g.126173406A>G	ENSP00000344173:p.Phe677Ser	HNSCC(24;0.065)				GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.F677S|GRM8_uc010lkz.1_Non-coding_Transcript	p.F677S	NM_000845	NP_000836	O00222	GRM8_HUMAN			7	2341	-		Prostate(267;0.186)	677					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.2030T>C	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.153719	0.78114	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.91011	-2.77;-2.77;-2.77	5.82	5.82	0.92795	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.96658	0.8909	M	0.94142	3.5	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.994;1.0	D	0.97677	1.0170	10	0.87932	D	0	.	15.3625	0.74492	1.0:0.0:0.0:0.0	.	677;677	O00222-2;O00222	.;GRM8_HUMAN	S	677	ENSP00000344173:F677S;ENSP00000409790:F677S;ENSP00000351142:F677S	ENSP00000344173:F677S	F	-	2	0	GRM8	125960642	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.234000	0.73211	0.533000	0.62120	TTT		0.502	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4		
UBN2	254048	broad.mit.edu	37	7	138969015	138969015	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr7:138969015C>A	ENST00000473989.3	+	15	3364	c.3364C>A	c.(3364-3366)Cag>Aag	p.Q1122K	UBN2_ENST00000288561.8_Missense_Mutation_p.Q1039K	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1122	Ser-rich.					extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CATCAGCAGACAGTCTCCCAC	0.498																																						uc011kqr.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						c.(3364-3366)Cag>Aag		Homo sapiens ubinuclein 2 (UBN2), mRNA.							78.0	81.0	80.0					7																	138969015		2011	4182	6193	SO:0001583	missense	254048							g.chr7:138969015C>A	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.3364C>A	7.37:g.138969015C>A	ENSP00000418648:p.Gln1122Lys						p.Q1122K	NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN			14	3364	+			1122			Ser-rich.		A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	37	c.3364C>A	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	C	18.16	3.563004	0.65538	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.35421	1.31;1.45	5.51	5.51	0.81932	.	0.354165	0.28409	N	0.015455	T	0.40222	0.1108	L	0.36672	1.1	0.35521	D	0.801451	P	0.45715	0.865	P	0.57620	0.824	T	0.17961	-1.0352	10	0.05959	T	0.93	0.3355	13.0614	0.59010	0.0:0.9263:0.0:0.0737	.	1122	Q6ZU65	UBN2_HUMAN	K	1122;1039	ENSP00000418648:Q1122K;ENSP00000288561:Q1039K	ENSP00000288561:Q1039K	Q	+	1	0	UBN2	138619555	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.751000	0.55165	2.752000	0.94435	0.557000	0.71058	CAG		0.498	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569	
ARHGEF10	9639	broad.mit.edu	37	8	1871717	1871717	+	Silent	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr8:1871717G>A	ENST00000398564.1	+	20	2418	c.2418G>A	c.(2416-2418)gcG>gcA	p.A806A	ARHGEF10_ENST00000349830.3_Silent_p.A781A|ARHGEF10_ENST00000262112.6_Silent_p.A806A|ARHGEF10_ENST00000520359.1_Silent_p.A743A|ARHGEF10_ENST00000518288.1_Silent_p.A805A			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	806					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TCAGAGCTGCGGACTGCTGCA	0.418																																						uc003wpr.3																			0				endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35						c.(2341-2343)gcG>gcA		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.							71.0	80.0	77.0					8																	1871717		2203	4300	6503	SO:0001819	synonymous_variant	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1871717G>A	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.2418G>A	8.37:g.1871717G>A						ARHGEF10_uc003wpq.1_Silent_p.A805A|ARHGEF10_uc003wps.3_Silent_p.A743A|ARHGEF10_uc003wpv.3_Silent_p.A514A|ARHGEF10_uc010lre.3_Silent_p.A461A	p.A781A	NM_014629	NP_055444	O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	19	2521	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	806					O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Silent	SNP	ENST00000398564.1	37	c.2343G>A																																																																																					0.418	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding			
CTHRC1	115908	broad.mit.edu	37	8	104390318	104390318	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr8:104390318C>T	ENST00000330295.5	+	3	578	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W	CTHRC1_ENST00000520880.1_Missense_Mutation_p.R16W|CTHRC1_ENST00000520337.1_Missense_Mutation_p.R132W	NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	146					cell migration (GO:0016477)|cochlea morphogenesis (GO:0090103)|establishment of planar polarity involved in neural tube closure (GO:0090177)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|ossification involved in bone remodeling (GO:0043932)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein binding (GO:0032092)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			TGGCTCACTTCGGCTAAAATG	0.373																																						uc003ylk.3																			0				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12						c.(436-438)Cgg>Tgg		Homo sapiens collagen triple helix repeat containing 1 (CTHRC1), transcript variant 1, mRNA.							187.0	181.0	183.0					8																	104390318		2203	4300	6503	SO:0001583	missense	115908					collagen		g.chr8:104390318C>T	BC014245	CCDS6299.1, CCDS59110.1	8q22.3	2008-08-07			ENSG00000164932	ENSG00000164932			18831	protein-coding gene	gene with protein product		610635				15618538	Standard	NM_138455		Approved		uc003ylk.4	Q96CG8	OTTHUMG00000164887	ENST00000330295.5:c.436C>T	8.37:g.104390318C>T	ENSP00000330523:p.Arg146Trp						p.R146W	NM_138455	NP_612464	Q96CG8	CTHR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		2	535	+			146					G3V141|Q6UW91|Q8IX63	Missense_Mutation	SNP	ENST00000330295.5	37	c.436C>T	CCDS6299.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012940	0.75161	.	.	ENSG00000164932	ENST00000330295;ENST00000520337;ENST00000297577;ENST00000520880	T;T	0.69040	-0.37;0.61	5.51	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.82440	0.5037	M	0.80982	2.52	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	D	0.85431	0.1149	10	0.87932	D	0	-19.0796	15.8231	0.78676	0.1367:0.8633:0.0:0.0	.	146	Q96CG8	CTHR1_HUMAN	W	146;132;132;16	ENSP00000330523:R146W;ENSP00000430550:R132W	ENSP00000297577:R132W	R	+	1	2	CTHRC1	104459494	0.896000	0.30565	0.996000	0.52242	0.998000	0.95712	1.793000	0.38764	1.289000	0.44618	0.655000	0.94253	CGG		0.373	CTHRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380792.1	NM_138455	
TG	7038	broad.mit.edu	37	8	134042090	134042090	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr8:134042090delG	ENST00000220616.4	+	41	7101	c.7061delG	c.(7060-7062)tggfs	p.W2354fs	TG_ENST00000377869.1_Frame_Shift_Del_p.W2297fs|TG_ENST00000542445.1_Frame_Shift_Del_p.W724fs|TG_ENST00000519543.1_Frame_Shift_Del_p.W487fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2354					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGTGGCAACTGGGGGCTGCTG	0.577																																						uc003ytw.3																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(7060-7062)tggfs		Homo sapiens thyroglobulin (TG), mRNA.							45.0	49.0	48.0					8																	134042090		2203	4300	6503	SO:0001589	frameshift_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134042090delG	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7061delG	8.37:g.134042090delG	ENSP00000220616:p.Trp2354fs					TG_uc010mdw.3_Frame_Shift_Del_p.W1113fs|TG_uc011ljb.2_Frame_Shift_Del_p.W723fs|TG_uc011ljc.2_Frame_Shift_Del_p.W487fs	p.W2354fs	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	40	7102	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	2354					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Frame_Shift_Del	DEL	ENST00000220616.4	37	c.7061delG	CCDS34944.1																																																																																				0.577	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	
DOCK8	81704	broad.mit.edu	37	9	439266	439266	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr9:439266G>C	ENST00000453981.1	+	40	5213	c.5101G>C	c.(5101-5103)Gag>Cag	p.E1701Q	DOCK8_ENST00000469391.1_Missense_Mutation_p.E1601Q|DOCK8_ENST00000432829.2_Missense_Mutation_p.E1633Q|DOCK8_ENST00000382329.1_Missense_Mutation_p.E1168Q			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1701	DHR-2.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CAATGTGCTGGAGGAGTCTGT	0.552																																						uc003zgf.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(5101-5103)Gag>Cag		Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.							104.0	99.0	101.0					9																	439266		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:439266G>C	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.5101G>C	9.37:g.439266G>C	ENSP00000408464:p.Glu1701Gln					DOCK8_uc022bcu.1_Missense_Mutation_p.E1633Q|DOCK8_uc010mgv.3_Missense_Mutation_p.E1601Q|DOCK8_uc010mgu.3_Missense_Mutation_p.E1003Q|DOCK8_uc003zgk.2_Missense_Mutation_p.E1159Q	p.E1701Q	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	39	5213	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1701			DHR-2.		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.5101G>C	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	G	27.4	4.828382	0.90955	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.69175	2.35;-0.38;-0.38;-0.38	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.85809	0.5783	M	0.91300	3.195	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.80764	0.994;0.994;0.99	D	0.88663	0.3190	10	0.66056	D	0.02	.	18.6173	0.91306	0.0:0.0:1.0:0.0	.	1601;1168;1701	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	Q	1701;1669;1633;1601;1168	ENSP00000408464:E1701Q;ENSP00000394888:E1633Q;ENSP00000419438:E1601Q;ENSP00000371766:E1168Q	ENSP00000287364:E1669Q	E	+	1	0	DOCK8	429266	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	9.150000	0.94667	2.624000	0.88883	0.655000	0.94253	GAG		0.552	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307	
FOCAD	54914	broad.mit.edu	37	9	20821058	20821058	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr9:20821058T>C	ENST00000380249.1	+	16	2145	c.1781T>C	c.(1780-1782)aTa>aCa	p.I594T	FOCAD_ENST00000338382.6_Missense_Mutation_p.I594T|FOCAD_ENST00000605086.1_Missense_Mutation_p.I30T	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	594						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											ATCAGAGATATATGTAAGCAG	0.368																																						uc003zog.1																			0											c.(1780-1782)aTa>aCa		Homo sapiens KIAA1797 (KIAA1797), mRNA.							154.0	146.0	148.0					9																	20821058		2203	4300	6503	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20821058T>C	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.1781T>C	9.37:g.20821058T>C	ENSP00000369599:p.Ile594Thr					FOCAD_uc003zoh.1_Missense_Mutation_p.I30T	p.I594T	NM_017794	NP_060264	Q5VW36	K1797_HUMAN			15	2144	+			594					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.1781T>C	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	T	18.56	3.649493	0.67358	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.27402	1.67;1.67	5.46	5.46	0.80206	Domain of unknown function DUF3730 (1);	0.094503	0.64402	D	0.000001	T	0.54287	0.1849	M	0.73962	2.25	0.58432	D	0.999997	D	0.69078	0.997	D	0.64042	0.921	T	0.59413	-0.7459	10	0.72032	D	0.01	-28.1389	15.5911	0.76530	0.0:0.0:0.0:1.0	.	594	Q5VW36	K1797_HUMAN	T	594	ENSP00000369599:I594T;ENSP00000344307:I594T	ENSP00000344307:I594T	I	+	2	0	KIAA1797	20811058	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.429000	0.73387	2.089000	0.63090	0.374000	0.22700	ATA		0.368	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794	
TAF1L	138474	broad.mit.edu	37	9	32630579	32630579	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr9:32630579C>T	ENST00000242310.4	-	1	5088	c.4999G>A	c.(4999-5001)Gat>Aat	p.D1667N	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1667					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCATACATATCAGGAGGCTGA	0.463																																						uc003zrg.1																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(4999-5001)Gat>Aat		Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.							205.0	195.0	199.0					9																	32630579		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32630579C>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.4999G>A	9.37:g.32630579C>T	ENSP00000418379:p.Asp1667Asn					AX747113_uc003zrh.1_5'Flank	p.D1667N	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	0	5089	-			1667					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.4999G>A	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.495151	0.44352	.	.	ENSG00000122728	ENST00000242310	T	0.08546	3.08	0.479	0.479	0.16796	.	0.000000	0.85682	D	0.000000	T	0.06234	0.0161	L	0.47716	1.5	0.36305	D	0.857294	P	0.34800	0.469	B	0.29524	0.103	T	0.35943	-0.9768	10	0.37606	T	0.19	.	6.6915	0.23174	0.0:0.9998:0.0:2.0E-4	.	1667	Q8IZX4	TAF1L_HUMAN	N	1667	ENSP00000418379:D1667N	ENSP00000418379:D1667N	D	-	1	0	TAF1L	32620579	0.759000	0.28416	0.383000	0.26132	0.063000	0.16089	1.338000	0.33873	0.507000	0.28148	0.195000	0.17529	GAT		0.463	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2		
ZNF658	26149	broad.mit.edu	37	9	40772401	40772401	+	Missense_Mutation	SNP	T	T	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr9:40772401T>A	ENST00000602553.1	-	5	3168	c.2874A>T	c.(2872-2874)agA>agT	p.R958S	ZNF658_ENST00000377626.3_Missense_Mutation_p.R958S|ZNF658_ENST00000441795.1_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	958					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CTGTGTGAATTCTTTGATGTA	0.438																																						uc004abs.2																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46						c.(2872-2874)agA>agT		Homo sapiens zinc finger protein 658 (ZNF658), mRNA.							22.0	24.0	23.0					9																	40772401		1496	3161	4657	SO:0001583	missense	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40772401T>A	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.2874A>T	9.37:g.40772401T>A	ENSP00000473484:p.Arg958Ser					ZNF658_uc010mmm.2_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.R958S	p.R958S	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	4	3026	-			958					Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Missense_Mutation	SNP	ENST00000602553.1	37	c.2874A>T	CCDS35023.1	.	.	.	.	.	.	.	.	.	.	t	12.69	2.012267	0.35511	.	.	ENSG00000196409	ENST00000377626	T	0.02395	4.31	2.16	1.01	0.19927	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09423	0.0232	M	0.67569	2.06	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.07712	-1.0758	9	0.66056	D	0.02	.	5.3348	0.15951	0.0:0.1597:0.0:0.8403	.	958	Q5TYW1	ZN658_HUMAN	S	958	ENSP00000366853:R958S	ENSP00000366853:R958S	R	-	3	2	ZNF658	40762401	0.000000	0.05858	0.054000	0.19295	0.479000	0.33129	-0.396000	0.07278	0.311000	0.23014	0.423000	0.28283	AGA		0.438	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160	
TNFSF8	944	broad.mit.edu	37	9	117666360	117666360	+	Missense_Mutation	SNP	C	C	T	rs145748228		TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr9:117666360C>T	ENST00000223795.2	-	4	669	c.556G>A	c.(556-558)Gta>Ata	p.V186I	TNFSF8_ENST00000474301.1_Intron	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	186					apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						TTCTGGTATACGTGTTTCGTT	0.418																																						uc004bji.2																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						c.(556-558)Gta>Ata		Homo sapiens tumor necrosis factor (ligand) superfamily, member 8 (TNFSF8), transcript variant 1, mRNA.		C	ILE/VAL	0,4406		0,0,2203	274.0	237.0	249.0		556	4.7	0.5	9	dbSNP_134	249	1,8599	1.2+/-3.3	0,1,4299	no	missense	TNFSF8	NM_001244.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	186/235	117666360	1,13005	2203	4300	6503	SO:0001583	missense	944				cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr9:117666360C>T	L09753	CCDS6810.1, CCDS75884.1	9q33	2008-02-05			ENSG00000106952	ENSG00000106952		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11938	protein-coding gene	gene with protein product		603875		CD30LG		8391931, 9349718	Standard	NM_001244		Approved	CD153	uc004bji.2	P32971	OTTHUMG00000021025	ENST00000223795.2:c.556G>A	9.37:g.117666360C>T	ENSP00000223795:p.Val186Ile					TNFSF8_uc022bmi.1_Intron	p.V186I	NM_001244	NP_001235	P32971	TNFL8_HUMAN			3	848	-			186					O43404	Missense_Mutation	SNP	ENST00000223795.2	37	c.556G>A	CCDS6810.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.827073	0.00584	0.0	1.16E-4	ENSG00000106952	ENST00000223795	D	0.94417	-3.42	5.78	4.66	0.58398	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.163209	0.42548	N	0.000687	T	0.81721	0.4882	N	0.02916	-0.46	0.21841	N	0.99951	B	0.10296	0.003	B	0.04013	0.001	T	0.66893	-0.5808	10	0.02654	T	1	-16.0201	8.9474	0.35767	0.0:0.0874:0.0:0.9126	.	186	P32971	TNFL8_HUMAN	I	186	ENSP00000223795:V186I	ENSP00000223795:V186I	V	-	1	0	TNFSF8	116706181	0.991000	0.36638	0.473000	0.27253	0.008000	0.06430	2.612000	0.46343	1.024000	0.39682	-0.302000	0.09304	GTA		0.418	TNFSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055464.1		
BCOR	54880	broad.mit.edu	37	X	39923055	39923055	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chrX:39923055C>T	ENST00000378444.4	-	8	3881	c.3653G>A	c.(3652-3654)tGg>tAg	p.W1218*	BCOR_ENST00000378463.1_Nonsense_Mutation_p.W61*|BCOR_ENST00000342274.4_Nonsense_Mutation_p.W1184*|BCOR_ENST00000397354.3_Nonsense_Mutation_p.W1184*|BCOR_ENST00000378455.4_Nonsense_Mutation_p.W1166*	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1218					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CTGCTGCTCCCATCGTTCTCT	0.542			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															uc004den.4				Rec	yes		X	Xp11.4	54880	"""F, N, S, T"""	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"""retinoblastoma, AML, APL(translocation)"""		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(3652-3654)tGg>tAg		Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.							87.0	78.0	81.0					X																	39923055		2202	4300	6502	SO:0001587	stop_gained	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39923055C>T	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.3653G>A	X.37:g.39923055C>T	ENSP00000367705:p.Trp1218*					BCOR_uc004dep.4_Nonsense_Mutation_p.W1184*|BCOR_uc004deo.4_Nonsense_Mutation_p.W1166*|BCOR_uc010nhb.3_5'Flank|BCOR_uc004dem.4_Nonsense_Mutation_p.W1184*	p.W1218*	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN			7	3945	-			1218					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Nonsense_Mutation	SNP	ENST00000378444.4	37	c.3653G>A	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	C	44	11.009604	0.99503	.	.	ENSG00000183337	ENST00000413905;ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.4878	16.6977	0.85340	0.0:1.0:0.0:0.0	.	.	.	.	X	88;61;1166;1184;1218;1184;1184	.	ENSP00000345923:W1184X	W	-	2	0	BCOR	39807999	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.691000	0.74573	2.317000	0.78254	0.529000	0.55759	TGG		0.542	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745	
TAF1	6872	broad.mit.edu	37	X	70680612	70680612	+	Silent	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chrX:70680612C>T	ENST00000373790.4	+	37	5406	c.5355C>T	c.(5353-5355)gaC>gaT	p.D1785D	TAF1_ENST00000276072.3_Silent_p.D1806D|TAF1_ENST00000449580.1_Silent_p.D1819D|TAF1_ENST00000461764.1_3'UTR|TAF1_ENST00000423759.1_Silent_p.D1808D	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1785	Asp/Glu-rich (acidic tail).|Protein kinase 2.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				ATGAGGGAGACGGTGGGGAGG	0.507																																						uc004dzu.4																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(5353-5355)gaC>gaT		Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.							124.0	86.0	99.0					X																	70680612		2203	4300	6503	SO:0001819	synonymous_variant	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70680612C>T		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.5355C>T	X.37:g.70680612C>T						BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Silent_p.D1806D|TAF1_uc004dzv.4_Silent_p.D993D|TAF1_uc010nle.1_Non-coding_Transcript|TAF1_uc010nlf.1_Silent_p.D210D|TAF1_uc004dzx.2_Non-coding_Transcript|TAF1_uc004dzy.2_Non-coding_Transcript|TAF1_uc004dzw.1_Non-coding_Transcript|TAF1_uc010nlg.1_Non-coding_Transcript	p.D1785D	NM_138923	NP_620278	P21675	TAF1_HUMAN			36	5406	+	Renal(35;0.156)	all_lung(315;0.000321)	1785			Asp/Glu-rich (acidic tail).|Protein kinase 2.		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Silent	SNP	ENST00000373790.4	37	c.5355C>T	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	C	9.160	1.018527	0.19355	.	.	ENSG00000147133	ENST00000437147	.	.	.	4.9	-1.57	0.08506	.	.	.	.	.	T	0.51618	0.1685	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42749	-0.9433	4	.	.	.	.	7.2503	0.26146	0.1414:0.1664:0.0:0.6922	.	.	.	.	M	474	.	.	T	+	2	0	TAF1	70597337	0.181000	0.23161	0.986000	0.45419	0.984000	0.73092	-0.617000	0.05584	-0.353000	0.08224	-0.297000	0.09499	ACG		0.507	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606	
CYLC1	1538	broad.mit.edu	37	X	83128394	83128394	+	Silent	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chrX:83128394G>A	ENST00000329312.4	+	4	715	c.678G>A	c.(676-678)agG>agA	p.R226R		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	226					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ATTTGAAGAGGTCAAAGACTA	0.318																																						uc004eei.1																			0				NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(676-678)agG>agA		Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.							30.0	28.0	28.0					X																	83128394		2193	4289	6482	SO:0001819	synonymous_variant	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83128394G>A	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.678G>A	X.37:g.83128394G>A						CYLC1_uc004eeh.1_Silent_p.R225R	p.R226R	NM_021118	NP_066941	P35663	CYLC1_HUMAN			3	699	+			226					A0AVQ8|Q5JQQ9	Silent	SNP	ENST00000329312.4	37	c.678G>A	CCDS35341.1																																																																																				0.318	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118	
PCDH11X	27328	broad.mit.edu	37	X	91132792	91132792	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chrX:91132792G>A	ENST00000373094.1	+	2	2398	c.1553G>A	c.(1552-1554)cGt>cAt	p.R518H	PCDH11X_ENST00000361724.1_Missense_Mutation_p.R518H|PCDH11X_ENST00000395337.2_Missense_Mutation_p.R518H|PCDH11X_ENST00000361655.2_Missense_Mutation_p.R518H|PCDH11X_ENST00000298274.8_Missense_Mutation_p.R518H|PCDH11X_ENST00000504220.2_Missense_Mutation_p.R518H|PCDH11X_ENST00000373088.1_Missense_Mutation_p.R518H|PCDH11X_ENST00000406881.1_Missense_Mutation_p.R518H|PCDH11X_ENST00000373097.1_Missense_Mutation_p.R518H	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	518	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTGGATTGTCGTACAGGCATG	0.433																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.2																			0		p.R518S(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(1552-1554)cGt>cAt		Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.							74.0	63.0	66.0					X																	91132792		2202	4300	6502	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91132792G>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1553G>A	X.37:g.91132792G>A	ENSP00000362186:p.Arg518His					PCDH11X_uc004efl.2_Missense_Mutation_p.R518H|PCDH11X_uc010nmv.2_Missense_Mutation_p.R518H|PCDH11X_uc004efm.2_Missense_Mutation_p.R518H|PCDH11X_uc004efn.2_Missense_Mutation_p.R518H|PCDH11X_uc004efo.2_Missense_Mutation_p.R518H|PCDH11X_uc004efh.2_Missense_Mutation_p.R518H|PCDH11X_uc004efj.1_Missense_Mutation_p.R518H	p.R518H	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			1	2398	+			518			Cadherin 5.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.1553G>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	2.469	-0.322410	0.05350	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66	5.38	1.6	0.23607	Cadherin (4);Cadherin-like (1);	0.166981	0.51477	N	0.000083	T	0.29458	0.0734	N	0.20807	0.61	0.29771	N	0.834756	B;B;P;P;P;P;B;B	0.38048	0.194;0.07;0.562;0.562;0.562;0.616;0.119;0.119	B;B;B;B;B;B;B;B	0.36719	0.063;0.019;0.09;0.09;0.09;0.231;0.063;0.063	T	0.17592	-1.0364	10	0.49607	T	0.09	.	9.1583	0.37007	0.3151:0.0:0.6849:0.0	.	518;518;518;518;518;518;518;518	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	H	518	ENSP00000378746:R518H;ENSP00000362186:R518H;ENSP00000362189:R518H;ENSP00000355040:R518H;ENSP00000362180:R518H;ENSP00000423762:R518H;ENSP00000355105:R518H;ENSP00000384758:R518H;ENSP00000298274:R518H	ENSP00000298274:R518H	R	+	2	0	PCDH11X	91019448	1.000000	0.71417	0.702000	0.30337	0.110000	0.19582	4.465000	0.60141	0.128000	0.18479	-0.268000	0.10319	CGT		0.433	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969	
