#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_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	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_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_Start_position_hg18	i_TranscriptID	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
OR51B5	282763	broad.mit.edu	37	11	5364373	5364373	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr11:5364373G>C	ENST00000300773.2	-	1	436	c.382C>G	c.(382-384)Ctt>Gtt	p.L128V	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	128					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L128V(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTATATCTAAGAGGGTTGCAG	0.473																																					p.L128V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C382G	11						.						50.0	53.0	52.0					11																	5364373		2201	4297	6498	5320949	SO:0001583	missense	282763	exon1			BK004430	CCDS31378.1	11p15.4	2012-08-09			ENSG00000242180	ENSG00000242180		"""GPCR / Class A : Olfactory receptors"""	19599	protein-coding gene	gene with protein product							Standard	NM_001005567		Approved		uc001maq.2	Q9H339	OTTHUMG00000066676	ENST00000300773.2:c.382C>G	11.37:g.5364373G>C	ENSP00000300773:p.Leu128Val		5320949	NM_001005567	B2RN59	Missense_Mutation	SNP	ENST00000300773.2	37	CCDS31378.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.146203	0.57044	.	.	ENSG00000242180	ENST00000300773	T	0.32988	1.43	4.76	3.85	0.44370	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32430	N	0.006104	T	0.69575	0.3126	H	0.99074	4.42	0.31859	N	0.621266	D	0.89917	1.0	D	0.87578	0.998	T	0.79822	-0.1641	10	0.87932	D	0	.	9.1447	0.36925	0.1772:0.0:0.8228:0.0	.	128	Q9H339	O51B5_HUMAN	V	128	ENSP00000300773:L128V	ENSP00000300773:L128V	L	-	1	0	OR51B5	5320949	0.033000	0.19621	0.680000	0.29994	0.910000	0.53928	0.208000	0.17415	1.248000	0.43934	0.650000	0.86243	CTT		0.473	OR51B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142975.1	NM_001005567	
PRR5L	79899	broad.mit.edu	37	11	36458943	36458943	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr11:36458943C>T	ENST00000378867.3	+	7	716	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C	PRR5L_ENST00000530639.1_Missense_Mutation_p.R121C|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000527487.1_Missense_Mutation_p.R121C|PRR5L_ENST00000311599.5_Missense_Mutation_p.R95C	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	121					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|regulation of fibroblast migration (GO:0010762)|TORC2 signaling (GO:0038203)	mitochondrion (GO:0005739)|TORC2 complex (GO:0031932)	ubiquitin protein ligase binding (GO:0031625)	p.R121C(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						AGGTGAAAATCGCATTGAGGT	0.458																																					p.R121C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C361T	11						.						239.0	215.0	223.0					11																	36458943		2202	4298	6500	36415519	SO:0001583	missense	79899	exon5				CCDS31463.1, CCDS53617.1	11p13-p12	2009-07-09				ENSG00000135362			25878	protein-coding gene	gene with protein product	"""protein observed with Rictor-2"""	611728				17461779	Standard	NM_024841		Approved	FLJ14213, PROTOR-2	uc001mwp.3	Q6MZQ0		ENST00000378867.3:c.361C>T	11.37:g.36458943C>T	ENSP00000368144:p.Arg121Cys		36415519	NM_001160169	A4QN22|E9PKY1|Q96H46|Q9H7V4	Missense_Mutation	SNP	ENST00000378867.3	37	CCDS31463.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553556	0.86127	.	.	ENSG00000135362	ENST00000530639;ENST00000311599;ENST00000378867;ENST00000527487	T;T;T;T	0.76316	1.84;1.85;1.84;-1.01	5.37	5.37	0.77165	.	0.313017	0.35349	N	0.003268	D	0.86331	0.5907	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.986;0.966;0.999	D	0.86832	0.2011	10	0.66056	D	0.02	-14.893	19.0681	0.93122	0.0:1.0:0.0:0.0	.	121;40;121	E9PKY1;Q6MZQ0-3;Q6MZQ0	.;.;PRR5L_HUMAN	C	121;95;121;121	ENSP00000435050:R121C;ENSP00000310103:R95C;ENSP00000368144:R121C;ENSP00000435241:R121C	ENSP00000310103:R95C	R	+	1	0	PRR5L	36415519	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	3.357000	0.52277	2.659000	0.90383	0.655000	0.94253	CGC		0.458	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389209.1	NM_024841	
EHBP1L1	254102	broad.mit.edu	37	11	65348582	65348582	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr11:65348582C>T	ENST00000309295.4	+	7	953	c.688C>T	c.(688-690)Cga>Tga	p.R230*		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	230						membrane (GO:0016020)		p.R230*(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						AGGCCAAGGACGACCCCAGCA	0.632																																					p.R230X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C688T	11						.						32.0	38.0	36.0					11																	65348582		1962	4151	6113	65105158	SO:0001587	stop_gained	254102	exon7			AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.688C>T	11.37:g.65348582C>T	ENSP00000312671:p.Arg230*		65105158	NM_001099409	Q8TB89|Q9H7M7	Nonsense_Mutation	SNP	ENST00000309295.4	37	CCDS44649.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.300731	0.81136	.	.	ENSG00000173442	ENST00000309295;ENST00000533237	.	.	.	4.53	4.53	0.55603	.	0.882556	0.09236	N	0.829853	.	.	.	.	.	.	0.25769	N	0.98486	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	12.7662	0.57393	0.0:1.0:0.0:0.0	.	.	.	.	X	230	.	ENSP00000312671:R230X	R	+	1	2	EHBP1L1	65105158	0.002000	0.14202	0.003000	0.11579	0.015000	0.08874	0.407000	0.21049	2.064000	0.61679	0.591000	0.81541	CGA		0.632	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658	
FZD10	11211	broad.mit.edu	37	12	130648848	130648848	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr12:130648848C>T	ENST00000229030.4	+	1	1845	c.1361C>T	c.(1360-1362)cCg>cTg	p.P454L	FZD10-AS1_ENST00000505807.2_RNA|FZD10_ENST00000539839.1_Silent_p.A421A			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	454					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.P454L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		TACACCGTGCCGGCCACCTGT	0.557																																					p.P454L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1361T	12						.						141.0	136.0	137.0					12																	130648848		2203	4300	6503	129214801	SO:0001583	missense	11211	exon1			AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.1361C>T	12.37:g.130648848C>T	ENSP00000229030:p.Pro454Leu		129214801	NM_007197		Missense_Mutation	SNP	ENST00000229030.4	37	CCDS9267.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.550580	0.86127	.	.	ENSG00000111432	ENST00000229030	D	0.83992	-1.79	5.1	5.1	0.69264	GPCR, family 2-like (1);	0.000000	0.85682	U	0.000000	D	0.92176	0.7519	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93416	0.6773	10	0.87932	D	0	.	18.5027	0.90888	0.0:1.0:0.0:0.0	.	454	Q9ULW2	FZD10_HUMAN	L	454	ENSP00000229030:P454L	ENSP00000229030:P454L	P	+	2	0	FZD10	129214801	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.641000	0.83368	2.360000	0.80028	0.561000	0.74099	CCG		0.557	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
ANO2	57101	broad.mit.edu	37	12	5744453	5744453	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr12:5744453C>T	ENST00000356134.5	-	18	1755	c.1684G>A	c.(1684-1686)Gct>Act	p.A562T	ANO2_ENST00000538154.1_5'Flank|ANO2_ENST00000546188.1_Missense_Mutation_p.A562T|ANO2_ENST00000327087.8_Missense_Mutation_p.A561T	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	566					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.A562T(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AGAGACAGAGCGGCTGCAGTT	0.493																																					p.A561T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1681A	12						.						102.0	101.0	101.0					12																	5744453		2041	4191	6232	5614714	SO:0001583	missense	57101	exon17			AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1684G>A	12.37:g.5744453C>T	ENSP00000348453:p.Ala562Thr		5614714	NM_020373	C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37		.	.	.	.	.	.	.	.	.	.	C	34	5.298869	0.95574	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277;ENST00000545860	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.26	5.26	0.73747	.	0.176574	0.50627	D	0.000103	T	0.68201	0.2975	L	0.45352	1.415	0.80722	D	1	D	0.67145	0.996	P	0.57468	0.821	T	0.62329	-0.6877	10	0.24483	T	0.36	.	18.1054	0.89518	0.0:1.0:0.0:0.0	.	561	Q9NQ90-3	.	T	561;562;562;566;121	ENSP00000314048:A561T;ENSP00000348453:A562T;ENSP00000440981:A562T;ENSP00000443813:A121T	ENSP00000314048:A561T	A	-	1	0	ANO2	5614714	0.699000	0.27786	0.999000	0.59377	0.966000	0.64601	1.203000	0.32284	2.754000	0.94517	0.545000	0.68477	GCT		0.493	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373	
GALNT9	50614	broad.mit.edu	37	12	132683763	132683763	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr12:132683763C>T	ENST00000328957.8	-	9	1452	c.1453G>A	c.(1453-1455)Ggc>Agc	p.G485S	GALNT9_ENST00000541995.1_Missense_Mutation_p.G119S|GALNT9_ENST00000397325.2_Missense_Mutation_p.G119S|GALNT9_ENST00000535228.1_Missense_Mutation_p.G236S	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	polypeptide N-acetylgalactosaminyltransferase 9	485	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.G119S(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		GCCCGGTCGCCGTCCTCCGCT	0.657																																					p.G485S	Colon(186;2147 2752 13553 41466)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1453A	12						.						45.0	54.0	51.0					12																	132683763		2027	4155	6182	131249716	SO:0001583	missense	50614	exon9			AB040672	CCDS41866.1	12q24.33	2014-03-13	2014-03-13		ENSG00000182870	ENSG00000182870	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4131	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 9"""	606251	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)"""			10978536, 12407114	Standard	NM_021808		Approved	GALNAC-T9	uc001ukc.4	Q9HCQ5	OTTHUMG00000168256	ENST00000328957.8:c.1453G>A	12.37:g.132683763C>T	ENSP00000329846:p.Gly485Ser		131249716	NM_001122636	Q52LR8|Q6NT54|Q8NFR1	Missense_Mutation	SNP	ENST00000328957.8	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	13.53|13.53	2.265783|2.265783	0.40095|0.40095	.|.	.|.	ENSG00000182870|ENSG00000182870	ENST00000397325;ENST00000328957;ENST00000535228;ENST00000541995|ENST00000411988	T;T;T;T|.	0.33216|.	1.42;1.42;1.42;1.42|.	4.49|4.49	4.49|4.49	0.54785|0.54785	Ricin B-related lectin (1);Ricin B lectin (3);|.	0.100665|.	0.64402|.	D|.	0.000002|.	T|T	0.67979|0.67979	0.2951|0.2951	M|M	0.77820|0.77820	2.39|2.39	0.25875|0.25875	N|N	0.983667|0.983667	P;B;B|.	0.49185|.	0.92;0.175;0.055|.	P;B;B|.	0.45639|.	0.488;0.15;0.118|.	T|T	0.62918|0.62918	-0.6752|-0.6752	10|5	0.45353|.	T|.	0.12|.	.|.	17.1692|17.1692	0.86825|0.86825	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	236;485;342|.	B3KNR7;Q9HCQ5;B3KP58|.	.;GALT9_HUMAN;.|.	S|Q	119;485;236;119|257	ENSP00000380488:G119S;ENSP00000329846:G485S;ENSP00000439745:G236S;ENSP00000440544:G119S|.	ENSP00000329846:G485S|.	G|R	-|-	1|2	0|0	GALNT9|GALNT9	131249716|131249716	1.000000|1.000000	0.71417|0.71417	0.923000|0.923000	0.36655|0.36655	0.265000|0.265000	0.26407|0.26407	3.831000|3.831000	0.55776|0.55776	2.025000|2.025000	0.59659|0.59659	0.563000|0.563000	0.77884|0.77884	GGC|CGG		0.657	GALNT9-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000402967.1	NM_001122636	
L2HGDH	79944	broad.mit.edu	37	14	50735971	50735971	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr14:50735971G>C	ENST00000267436.4	-	7	1213	c.816C>G	c.(814-816)tgC>tgG	p.C272W	L2HGDH_ENST00000421284.3_Missense_Mutation_p.C272W|L2HGDH_ENST00000261699.4_Missense_Mutation_p.C272W			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	272					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2-hydroxyglutarate dehydrogenase activity (GO:0047545)	p.C272W(1)		kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					GATCAGGAGTGCAGCCACTCA	0.408																																					p.C272W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C816G	14						.						126.0	122.0	123.0					14																	50735971		2203	4300	6503	49805721	SO:0001583	missense	79944	exon7				CCDS9698.1	14q22.1	2006-04-28	2005-05-25	2005-05-25	ENSG00000087299	ENSG00000087299	1.1.99.2		20499	protein-coding gene	gene with protein product	"""2-hydroxyglutarate dehydrogenase"""	609584	"""chromosome 14 open reading frame 160"""	C14orf160		16005139	Standard	NM_024884		Approved	FLJ12618	uc001wxu.3	Q9H9P8	OTTHUMG00000140289	ENST00000267436.4:c.816C>G	14.37:g.50735971G>C	ENSP00000267436:p.Cys272Trp		49805721	NM_024884	Q9BRR1	Missense_Mutation	SNP	ENST00000267436.4	37	CCDS9698.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.05|17.05	3.289369|3.289369	0.59976|0.59976	.|.	.|.	ENSG00000087299|ENSG00000087299	ENST00000557131|ENST00000261699;ENST00000267436;ENST00000421284	.|D;D;D	.|0.84944	.|-1.92;-1.92;-1.92	5.57|5.57	1.26|1.26	0.21427|0.21427	.|FAD dependent oxidoreductase (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91143|0.91143	0.7211|0.7211	M|M	0.85373|0.85373	2.75|2.75	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	D|D	0.88995|0.88995	0.3417|0.3417	5|10	.|0.66056	.|D	.|0.02	-17.3938|-17.3938	8.7908|8.7908	0.34850|0.34850	0.4001:0.0:0.5999:0.0|0.4001:0.0:0.5999:0.0	.|.	.|272;272	.|C9JVN9;Q9H9P8	.|.;L2HDH_HUMAN	G|W	115|272	.|ENSP00000261699:C272W;ENSP00000267436:C272W;ENSP00000405559:C272W	.|ENSP00000261699:C272W	A|C	-|-	2|3	0|2	L2HGDH|L2HGDH	49805721|49805721	1.000000|1.000000	0.71417|0.71417	0.879000|0.879000	0.34478|0.34478	0.860000|0.860000	0.49131|0.49131	1.723000|1.723000	0.38053|0.38053	0.009000|0.009000	0.14813|0.14813	0.643000|0.643000	0.83706|0.83706	GCA|TGC		0.408	L2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276870.2	NM_024884	
KCNK13	56659	broad.mit.edu	37	14	90650700	90650700	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr14:90650700G>A	ENST00000282146.4	+	2	1021	c.580G>A	c.(580-582)Gtg>Atg	p.V194M		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	194					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.V194M(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				GAAGCCCTCCGTGTACTACGT	0.627																																					p.V194M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G580A	14						.						137.0	117.0	124.0					14																	90650700		2203	4300	6503	89720453	SO:0001583	missense	56659	exon2			AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.580G>A	14.37:g.90650700G>A	ENSP00000282146:p.Val194Met		89720453	NM_022054	B5TJL8|Q96E79	Missense_Mutation	SNP	ENST00000282146.4	37	CCDS9889.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497345	0.64186	.	.	ENSG00000152315	ENST00000282146	T	0.43688	0.94	5.31	5.31	0.75309	.	0.447226	0.16561	N	0.209025	T	0.66694	0.2815	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.68515	-0.5388	10	0.72032	D	0.01	.	18.9479	0.92628	0.0:0.0:1.0:0.0	.	194	Q9HB14	KCNKD_HUMAN	M	194	ENSP00000282146:V194M	ENSP00000282146:V194M	V	+	1	0	KCNK13	89720453	1.000000	0.71417	0.955000	0.39395	0.211000	0.24417	9.842000	0.99487	2.476000	0.83614	0.655000	0.94253	GTG		0.627	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	NM_022054	
GPR132	29933	broad.mit.edu	37	14	105517966	105517966	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr14:105517966C>T	ENST00000329797.3	-	4	1419	c.508G>A	c.(508-510)Gtc>Atc	p.V170I	GPR132_ENST00000392585.2_Missense_Mutation_p.V161I|GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000539291.2_Missense_Mutation_p.V170I	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	170					G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V170I(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		ACGATCCCGACGAGGATGAAG	0.632																																					p.V170I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G508A	14						.						82.0	68.0	72.0					14																	105517966		2203	4300	6503	104589011	SO:0001583	missense	29933	exon4			AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484		"""GPCR / Class A : Orphans"""	17482	protein-coding gene	gene with protein product	"""G2 accumulation"""	606167				12086852	Standard	NM_013345		Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000329797.3:c.508G>A	14.37:g.105517966C>T	ENSP00000328818:p.Val170Ile		104589011	NM_013345	A8K7X7|B4E144|Q9BSU2	Missense_Mutation	SNP	ENST00000329797.3	37	CCDS9997.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124618	0.56613	.	.	ENSG00000183484	ENST00000329797;ENST00000392585;ENST00000539291	T;T;T	0.37584	1.19;1.19;1.19	4.97	4.97	0.65823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.60051	0.2239	M	0.76433	2.335	0.48571	D	0.999671	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.57991	-0.7715	10	0.28530	T	0.3	.	17.2051	0.86915	0.0:1.0:0.0:0.0	.	161;170	B4E144;Q9UNW8	.;GP132_HUMAN	I	170;161;170	ENSP00000328818:V170I;ENSP00000376364:V161I;ENSP00000438094:V170I	ENSP00000328818:V170I	V	-	1	0	GPR132	104589011	1.000000	0.71417	0.090000	0.20809	0.017000	0.09413	5.864000	0.69575	2.283000	0.76528	0.563000	0.77884	GTC		0.632	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409278.1	NM_013345	
TGM5	9333	broad.mit.edu	37	15	43527908	43527908	+	Silent	SNP	A	A	T			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr15:43527908A>T	ENST00000220420.5	-	10	1480	c.1473T>A	c.(1471-1473)ccT>ccA	p.P491P	TGM5_ENST00000349114.4_Silent_p.P409P	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	491					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.P491P(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GCAGGCTCCGAGGGCTGTCCT	0.562																																					p.P409P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1227A	15						.						113.0	102.0	106.0					15																	43527908		2203	4299	6502	41315200	SO:0001819	synonymous_variant	9333	exon9			AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.1473T>A	15.37:g.43527908A>T			41315200	NM_004245	O43549|Q0VF40|Q9UEZ4	Silent	SNP	ENST00000220420.5	37	CCDS32212.1																																																																																				0.562	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245	
RASGRF1	5923	broad.mit.edu	37	15	79291123	79291123	+	Missense_Mutation	SNP	G	G	A	rs368623142		TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr15:79291123G>A	ENST00000419573.3	-	19	3113	c.2839C>T	c.(2839-2841)Cgc>Tgc	p.R947C	RASGRF1_ENST00000558480.2_Missense_Mutation_p.R931C|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000394745.3_Missense_Mutation_p.R163C	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	947					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R947C(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCTGCTCTGCGGATCACAAAC	0.612																																					p.R947C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2839T	15						.	G	CYS/ARG,CYS/ARG,CYS/ARG	0,4392		0,0,2196	118.0	108.0	111.0		2791,2839,487	2.7	1.0	15		111	1,8585		0,1,4292	no	missense,missense,missense	RASGRF1	NM_001145648.1,NM_002891.4,NM_153815.2	180,180,180	0,1,6488	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	931/1258,947/1274,163/490	79291123	1,12977	2196	4293	6489	77078178	SO:0001583	missense	5923	exon19			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2839C>T	15.37:g.79291123G>A	ENSP00000405963:p.Arg947Cys		77078178	NM_002891	F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.795045	0.70452	0.0	1.16E-4	ENSG00000058335	ENST00000419573;ENST00000394741;ENST00000394745	T;T	0.30714	1.52;1.52	4.74	2.66	0.31614	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.51719	0.1691	M	0.77103	2.36	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.74348	0.983;0.915;0.953;0.961	T	0.55347	-0.8155	10	0.66056	D	0.02	.	9.9283	0.41505	0.0:0.0:0.4981:0.5019	.	343;931;949;931	B7Z6Z6;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	C	947;931;163	ENSP00000405963:R947C;ENSP00000378228:R163C	ENSP00000378224:R931C	R	-	1	0	RASGRF1	77078178	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	1.555000	0.36277	1.174000	0.42811	0.591000	0.81541	CGC		0.612	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891	
TBC1D24	57465	broad.mit.edu	37	16	2546489	2546489	+	Missense_Mutation	SNP	G	G	A	rs368575199		TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr16:2546489G>A	ENST00000293970.5	+	2	473	c.340G>A	c.(340-342)Gtg>Atg	p.V114M	RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.V114M|TBC1D24_ENST00000434757.2_Missense_Mutation_p.V114M|TBC1D24_ENST00000567020.1_Missense_Mutation_p.V114M	NM_001199107.1	NP_001186036.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	114	Rab-GAP TBC.				neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|terminal bouton (GO:0043195)	Rab GTPase activator activity (GO:0005097)	p.V114M(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						CGAGGGGGCCGTGCGCAAGAT	0.672																																					p.V114M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G340A	16						.	G	MET/VAL,MET/VAL	2,4284		0,2,2141	39.0	48.0	45.0		340,340	5.6	1.0	16		45	0,8500		0,0,4250	no	missense,missense	TBC1D24	NM_001199107.1,NM_020705.2	21,21	0,2,6391	AA,AG,GG		0.0,0.0467,0.0156	probably-damaging,probably-damaging	114/560,114/554	2546489	2,12784	2143	4250	6393	2486490	SO:0001583	missense	57465	exon2			AB032997	CCDS42107.1, CCDS55980.1	16p13.3	2014-05-07				ENSG00000162065			29203	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 6"""	613577	"""deafness, autosomal recessive 86"""	DFNB86		10574461, 24387994, 24729539	Standard	NM_001199107		Approved	KIAA1171, TLDC6, DFNA65	uc002cql.3	Q9ULP9		ENST00000293970.5:c.340G>A	16.37:g.2546489G>A	ENSP00000293970:p.Val114Met		2486490	NM_001199107	A0JNW3|B9A6M6|Q2KJ08	Missense_Mutation	SNP	ENST00000293970.5	37	CCDS55980.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.605120	0.87157	4.67E-4	0.0	ENSG00000162065	ENST00000293970;ENST00000434757	T;T	0.10763	2.84;2.84	5.6	5.6	0.85130	Rab-GAP/TBC domain (2);	0.056800	0.64402	D	0.000001	T	0.35307	0.0927	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	0.989;1.0;1.0	P;D;D	0.76575	0.83;0.988;0.98	T	0.02398	-1.1165	10	0.56958	D	0.05	-37.9202	18.1789	0.89771	0.0:0.0:1.0:0.0	.	114;114;114	B9A6M6;Q9ULP9;Q9ULP9-2	.;TBC24_HUMAN;.	M	114	ENSP00000293970:V114M;ENSP00000390106:V114M	ENSP00000293970:V114M	V	+	1	0	TBC1D24	2486490	1.000000	0.71417	0.998000	0.56505	0.870000	0.49936	5.750000	0.68712	2.642000	0.89623	0.549000	0.68633	GTG		0.672	TBC1D24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000435637.1	NM_020705	
BCO1	53630	broad.mit.edu	37	16	81303908	81303909	+	Missense_Mutation	DNP	AG	AG	CT			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	AG	AG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr16:81303908_81303909AG>CT	ENST00000258168.2	+	7	1449_1450	c.988_989AG>CT	c.(988-990)AGc>CTc	p.S330L	BCMO1_ENST00000425577.2_Missense_Mutation_p.S261L	NM_017429.2	NP_059125.2												p.S330>?(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						CGAGGACAACAGCCTCTACCAG	0.569																																					.												.	.	1	Complex(1)	large_intestine(1)	c.988_989CT	16						.																																			79861410	SO:0001583	missense	53630	exon7																														Exception_encountered	16.37:g.81303908_81303909delinsCT	ENSP00000258168:p.Ser330Leu		79861409	NM_017429		Missense_Mutation	DNP	ENST00000258168.2	37	CCDS10934.1																																																																																				0.569	BCMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269056.1		
ATP2A3	489	broad.mit.edu	37	17	3854671	3854671	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr17:3854671C>T	ENST00000352011.3	-	5	391	c.337G>A	c.(337-339)Gag>Aag	p.E113K	ATP2A3_ENST00000397043.3_Missense_Mutation_p.E113K|ATP2A3_ENST00000397041.3_Missense_Mutation_p.E113K|ATP2A3_ENST00000309890.7_Missense_Mutation_p.E113K|ATP2A3_ENST00000359983.3_Missense_Mutation_p.E113K|ATP2A3_ENST00000397035.3_Missense_Mutation_p.E113K|ATP2A3_ENST00000397039.1_5'UTR			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	113					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.E113K(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		ATGGCACTCTCGGCGTTGCGT	0.652																																					p.E113K	GBM(32;29 774 15719 37967)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G337A	17						.						62.0	54.0	57.0					17																	3854671		2203	4300	6503	3801420	SO:0001583	missense	489	exon5				CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.337G>A	17.37:g.3854671C>T	ENSP00000301387:p.Glu113Lys		3801420	NM_174955	A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Missense_Mutation	SNP	ENST00000352011.3	37	CCDS11041.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.771954	0.90108	.	.	ENSG00000074370	ENST00000397043;ENST00000352011;ENST00000359983;ENST00000397041;ENST00000397045;ENST00000309890;ENST00000397035	D;D;D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81;-2.81;-2.81	3.56	3.56	0.40772	ATPase, P-type, ATPase-associated domain (1);ATPase, P-type,  transmembrane domain (1);	1.209050	0.05571	N	0.571064	D	0.94945	0.8365	M	0.90082	3.085	0.80722	D	1	P;P;P;P;P;P	0.51147	0.552;0.864;0.888;0.942;0.942;0.864	B;P;P;P;P;P	0.49683	0.089;0.485;0.619;0.485;0.485;0.485	D	0.92042	0.5641	10	0.87932	D	0	.	15.3892	0.74729	0.0:1.0:0.0:0.0	.	113;113;113;113;113;113	Q93084-4;Q93084-2;Q93084;Q93084-6;G3XAE1;Q93084-3	.;.;AT2A3_HUMAN;.;.;.	K	113	ENSP00000380236:E113K;ENSP00000301387:E113K;ENSP00000353072:E113K;ENSP00000380234:E113K;ENSP00000312577:E113K;ENSP00000380229:E113K	ENSP00000312577:E113K	E	-	1	0	ATP2A3	3801420	1.000000	0.71417	0.961000	0.40146	0.787000	0.44495	7.307000	0.78920	2.277000	0.76020	0.407000	0.27541	GAG		0.652	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438401.1	NM_174953	
TP53	7157	broad.mit.edu	37	17	7578235	7578235	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr17:7578235T>C	ENST00000269305.4	-	6	803	c.614A>G	c.(613-615)tAt>tGt	p.Y205C	TP53_ENST00000359597.4_Missense_Mutation_p.Y205C|TP53_ENST00000420246.2_Missense_Mutation_p.Y205C|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.Y205C|TP53_ENST00000445888.2_Missense_Mutation_p.Y205C|TP53_ENST00000455263.2_Missense_Mutation_p.Y205C	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	205	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y205C(68)|p.Y205S(14)|p.Y205F(8)|p.0?(8)|p.Y112C(5)|p.?(5)|p.Y73C(5)|p.Y73S(1)|p.Y112S(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(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)	GTCATCCAAATACTCCACACG	0.542		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)																											p.Y205C	Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	TP53,stomach,NS,Substitution - Missense,0 	.	117	Substitution - Missense(102)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(1)|Deletion - Frameshift(1)	lung(20)|upper_aerodigestive_tract(19)|central_nervous_system(10)|large_intestine(9)|biliary_tract(8)|breast(6)|ovary(6)|haematopoietic_and_lymphoid_tissue(5)|endometrium(5)|urinary_tract(5)|bone(5)|soft_tissue(4)|oesophagus(4)|stomach(3)|liver(3)|pancreas(2)|vulva(1)|skin(1)|prostate(1)	c.A614G	17						.						136.0	121.0	126.0					17																	7578235		2203	4300	6503	7518960	SO:0001583	missense	7157	exon6	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.614A>G	17.37:g.7578235T>C	ENSP00000269305:p.Tyr205Cys		7518960	NM_001126114	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	17.85	3.490024	0.64074	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99872	-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36	5.41	4.33	0.51752	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88906	2.99	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.995;0.998;0.995;0.997;0.999;0.997;0.996	D	0.97320	0.9943	10	0.87932	D	0	-5.8058	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	166;205;205;112;205;205;205	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	205;205;205;205;205;205;194;112;73;112;73	ENSP00000410739:Y205C;ENSP00000352610:Y205C;ENSP00000269305:Y205C;ENSP00000398846:Y205C;ENSP00000391127:Y205C;ENSP00000391478:Y205C;ENSP00000425104:Y73C;ENSP00000423862:Y112C	ENSP00000269305:Y205C	Y	-	2	0	TP53	7518960	1.000000	0.71417	0.137000	0.22149	0.045000	0.14185	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	TAT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
RECQL5	9400	broad.mit.edu	37	17	73626751	73626751	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr17:73626751G>T	ENST00000317905.5	-	13	1825	c.1666C>A	c.(1666-1668)Ctt>Att	p.L556I	RECQL5_ENST00000423245.2_Missense_Mutation_p.L529I|SMIM5_ENST00000375215.3_5'Flank|RECQL5_ENST00000443199.2_5'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	556	Interaction with POLR2A.				chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)	p.L529I(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TCCTCCAGAAGCCGCAGGCAG	0.667								Other identified genes with known or suspected DNA repair function																													p.L556I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1666A	17						.						42.0	47.0	45.0					17																	73626751		2084	4209	6293	71138346	SO:0001583	missense	9400	exon13			AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.1666C>A	17.37:g.73626751G>T	ENSP00000317636:p.Leu556Ile		71138346	NM_004259	Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	ENST00000317905.5	37	CCDS42380.1	.	.	.	.	.	.	.	.	.	.	G	10.26	1.300284	0.23650	.	.	ENSG00000108469	ENST00000443199;ENST00000423245;ENST00000317905	T;T	0.62105	0.05;0.39	5.13	4.1	0.47936	.	0.309678	0.28983	N	0.013511	T	0.49729	0.1574	L	0.39633	1.23	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.10450	0.005;0.005	T	0.42783	-0.9431	10	0.25106	T	0.35	-12.5532	10.4714	0.44640	0.0:0.0:0.5549:0.4451	.	556;529	O94762;Q6P4G0	RECQ5_HUMAN;.	I	151;556;556	ENSP00000394820:L556I;ENSP00000317636:L556I	ENSP00000317636:L556I	L	-	1	0	RECQL5	71138346	1.000000	0.71417	0.991000	0.47740	0.180000	0.23129	4.383000	0.59600	2.387000	0.81309	0.462000	0.41574	CTT		0.667	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259	
LAMA3	3909	broad.mit.edu	37	18	21531663	21531663	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr18:21531663G>A	ENST00000313654.9	+	73	9899	c.9658G>A	c.(9658-9660)Gac>Aac	p.D3220N	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Missense_Mutation_p.D1611N|LAMA3_ENST00000399516.3_Missense_Mutation_p.D3164N|LAMA3_ENST00000587184.1_Missense_Mutation_p.D1555N	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	3220	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.D3220N(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GGCCTCTATGGACAGTGGGGC	0.567																																					p.D1555N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4663A	18						.						159.0	112.0	128.0					18																	21531663		2203	4300	6503	19785661	SO:0001583	missense	3909	exon35			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.9658G>A	18.37:g.21531663G>A	ENSP00000324532:p.Asp3220Asn		19785661	NM_001127718	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	1.617	-0.522504	0.04141	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.79141	-1.24;-1.24;-1.24	4.88	1.51	0.23008	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.53254	0.1785	N	0.11313	0.125	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.09377	0.002;0.004;0.002;0.002	T	0.33111	-0.9881	9	0.06365	T	0.9	.	8.4648	0.32949	0.4776:0.0:0.5224:0.0	.	1555;1611;3164;3220	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	N	3220;3164;1611	ENSP00000324532:D3220N;ENSP00000382432:D3164N;ENSP00000269217:D1611N	ENSP00000269217:D1611N	D	+	1	0	LAMA3	19785661	0.820000	0.29190	0.062000	0.19696	0.916000	0.54674	0.481000	0.22260	0.051000	0.15978	0.655000	0.94253	GAC		0.567	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129	
KMT2B	9757	broad.mit.edu	37	19	36210892	36210893	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr19:36210892_36210893insC	ENST00000222270.7	+	3	643_644	c.643_644insC	c.(643-645)accfs	p.T215fs	KMT2B_ENST00000420124.1_Frame_Shift_Ins_p.T215fs|KMT2B_ENST00000341701.1_Frame_Shift_Ins_p.T215fs|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	215					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R217fs*35(1)									TGAGCCCTCCACCCCCCGGCGG	0.688																																					p.T215fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.643_644insC	19						.																																			40902733	SO:0001589	frameshift_variant	9757	exon3			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.649dupC	19.37:g.36210898_36210898dupC	ENSP00000222270:p.Thr215fs		40902732	NM_014727	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Frame_Shift_Ins	INS	ENST00000222270.7	37	CCDS46055.1																																																																																				0.688	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727	
PGLYRP2	114770	broad.mit.edu	37	19	15586371	15586371	+	Silent	SNP	C	C	T			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr19:15586371C>T	ENST00000340880.4	-	2	1590	c.1110G>A	c.(1108-1110)aaG>aaA	p.K370K	PGLYRP2_ENST00000292609.4_Silent_p.K370K	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	370					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)	p.K370K(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CAGTGAATTCCTTGGTAGCAT	0.567																																					p.K370K												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G1110A	19						.						110.0	113.0	112.0					19																	15586371		2203	4300	6503	15447371	SO:0001819	synonymous_variant	114770	exon2			AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein L precursor"", ""peptidoglycan recognition protein-like"", ""N-acetylmuramoyl-L-alanine amidase"""	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.1110G>A	19.37:g.15586371C>T			15447371	NM_052890	A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Silent	SNP	ENST00000340880.4	37	CCDS12330.2																																																																																				0.567	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890	
NCAN	1463	broad.mit.edu	37	19	19360684	19360684	+	Silent	SNP	G	G	T	rs370157613		TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr19:19360684G>T	ENST00000252575.6	+	15	4029	c.3930G>T	c.(3928-3930)acG>acT	p.T1310T	NCAN_ENST00000538881.1_Silent_p.T761T	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1310					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.T1310T(1)|p.T1324T(1)		breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	AACACCCAACGGAGGACTGGG	0.552																																					p.T1310T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G3930T	19						.						340.0	270.0	294.0					19																	19360684		2203	4300	6503	19221684	SO:0001819	synonymous_variant	1463	exon15			AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.3930G>T	19.37:g.19360684G>T			19221684	NM_004386	Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	CCDS12397.1																																																																																				0.552	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386	
ZNF429	353088	broad.mit.edu	37	19	21720791	21720791	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr19:21720791G>T	ENST00000358491.4	+	4	2144	c.1936G>T	c.(1936-1938)Ggt>Tgt	p.G646C	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	646					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)	p.G646C(1)		endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						TCATAGGATgggtgtggtggc	0.468																																					p.G646C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1936T	19						.						44.0	46.0	46.0					19																	21720791		1972	4174	6146	21512631	SO:0001583	missense	353088	exon4			AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.1936G>T	19.37:g.21720791G>T	ENSP00000351280:p.Gly646Cys		21512631	NM_001001415	A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	37	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	11.39	1.623574	0.28889	.	.	ENSG00000197013	ENST00000358491	T	0.52057	0.68	0.185	0.185	0.15096	.	.	.	.	.	T	0.54464	0.1860	M	0.80982	2.52	0.09310	N	0.999999	D	0.65815	0.995	P	0.51193	0.662	T	0.48080	-0.9066	9	0.87932	D	0	.	5.8928	0.18923	1.0E-4:0.0:0.9999:0.0	.	646	Q86V71	ZN429_HUMAN	C	646	ENSP00000351280:G646C	ENSP00000351280:G646C	G	+	1	0	ZNF429	21512631	0.932000	0.31603	0.002000	0.10522	0.002000	0.02628	4.562000	0.60816	0.293000	0.22520	0.298000	0.19748	GGT		0.468	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415	
UBA2	10054	broad.mit.edu	37	19	34960032	34960032	+	Missense_Mutation	SNP	G	G	A	rs575391206		TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr19:34960032G>A	ENST00000246548.4	+	17	1899	c.1829G>A	c.(1828-1830)cGc>cAc	p.R610H	UBA2_ENST00000439527.2_Missense_Mutation_p.R514H|UBA2_ENST00000592791.1_Missense_Mutation_p.R136H	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	610					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)	p.R610H(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GAGAGAAGCCGCAAGAGGAAA	0.388													G|||	1	0.000199681	0.0	0.0	5008	,	,		18510	0.001		0.0	False		,,,				2504	0.0				p.R610H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1829A	19						.						51.0	50.0	50.0					19																	34960032		2203	4300	6503	39651872	SO:0001583	missense	10054	exon17			BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"""Ubiquitin-like modifier activating enzymes"""	30661	protein-coding gene	gene with protein product	"""UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"""	613295	"""SUMO1 activating enzyme subunit 2"""	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.1829G>A	19.37:g.34960032G>A	ENSP00000246548:p.Arg610His		39651872	NM_005499	B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Missense_Mutation	SNP	ENST00000246548.4	37	CCDS12439.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.216552	0.39201	.	.	ENSG00000126261	ENST00000246548;ENST00000439527	T;T	0.59083	0.29;1.46	5.8	4.73	0.59995	.	0.195714	0.52532	N	0.000065	T	0.41213	0.1149	N	0.14661	0.345	0.49213	D	0.999767	B	0.13594	0.008	B	0.06405	0.002	T	0.28522	-1.0041	10	0.56958	D	0.05	-2.4493	13.0913	0.59167	0.0:0.0:0.6895:0.3104	.	610	Q9UBT2	SAE2_HUMAN	H	610;514	ENSP00000246548:R610H;ENSP00000437484:R514H	ENSP00000246548:R610H	R	+	2	0	UBA2	39651872	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.420000	0.34804	1.367000	0.46095	0.557000	0.71058	CGC		0.388	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3	NM_005499	
CD3EAP	10849	broad.mit.edu	37	19	45911840	45911840	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr19:45911840C>T	ENST00000309424.3	+	3	1102	c.614C>T	c.(613-615)tCg>tTg	p.S205L	ERCC1_ENST00000588738.1_5'Flank|ERCC1_ENST00000300853.3_3'UTR|PPP1R13L_ENST00000418234.2_5'Flank|ERCC1_ENST00000423698.2_3'UTR|CD3EAP_ENST00000589804.1_Missense_Mutation_p.S207L	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	205					rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)	p.S205L(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		GCTTTGGGGTCGCCAGAAATG	0.557																																					p.S205L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C614T	19						.						51.0	58.0	56.0					19																	45911840		2203	4300	6503	50603680	SO:0001583	missense	10849	exon3			U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"""CD3 epsilon associated protein"", ""antisense to ERCC 1"""	107325	"""CD3e antigen, epsilon polypeptide associated protein"""			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.614C>T	19.37:g.45911840C>T	ENSP00000310966:p.Ser205Leu		50603680	NM_012099	Q32N11|Q7Z5U2|Q9UPF6	Missense_Mutation	SNP	ENST00000309424.3	37	CCDS12661.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.781806	0.31502	.	.	ENSG00000117877	ENST00000309424	T	0.12361	2.69	5.05	0.311	0.15831	.	1.128570	0.06679	N	0.767672	T	0.10551	0.0258	L	0.51422	1.61	0.09310	N	1	P;P	0.49090	0.901;0.919	B;B	0.38296	0.176;0.27	T	0.30909	-0.9962	10	0.27785	T	0.31	5.0E-4	2.9641	0.05902	0.1505:0.5406:0.1592:0.1497	.	207;205	O15446-2;O15446	.;RPA34_HUMAN	L	205	ENSP00000310966:S205L	ENSP00000310966:S205L	S	+	2	0	CD3EAP	50603680	0.000000	0.05858	0.000000	0.03702	0.218000	0.24690	0.055000	0.14229	0.459000	0.27016	0.561000	0.74099	TCG		0.557	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459538.1	NM_012099	
RSPH6A	81492	broad.mit.edu	37	19	46313976	46313976	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr19:46313976G>A	ENST00000221538.3	-	2	915	c.773C>T	c.(772-774)aCg>aTg	p.T258M	RSPH6A_ENST00000597055.1_Missense_Mutation_p.T258M|RSPH6A_ENST00000600188.1_De_novo_Start_InFrame	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	258						intracellular (GO:0005622)		p.T258M(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GTCCCGCAGCGTGTCCAGCTT	0.627																																					p.T258M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C773T	19						.						82.0	70.0	74.0					19																	46313976		2203	4300	6503	51005816	SO:0001583	missense	81492	exon2			AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.773C>T	19.37:g.46313976G>A	ENSP00000221538:p.Thr258Met		51005816	NM_030785	Q53FE2|Q6PEZ9	Missense_Mutation	SNP	ENST00000221538.3	37	CCDS12675.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.297995	0.40694	.	.	ENSG00000104941	ENST00000221538	T	0.18810	2.19	4.82	3.79	0.43588	.	0.376195	0.29321	N	0.012481	T	0.21186	0.0510	M	0.62723	1.935	0.33189	D	0.550606	P	0.38827	0.649	B	0.34138	0.176	T	0.39941	-0.9589	10	0.56958	D	0.05	-0.1686	11.4381	0.50081	0.0888:0.0:0.9112:0.0	.	258	Q9H0K4	RSH6A_HUMAN	M	258	ENSP00000221538:T258M	ENSP00000221538:T258M	T	-	2	0	RSPH6A	51005816	1.000000	0.71417	0.884000	0.34674	0.792000	0.44763	4.148000	0.58085	1.416000	0.47057	-0.143000	0.13931	ACG		0.627	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1		
HAS1	3036	broad.mit.edu	37	19	52216747	52216747	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr19:52216747G>A	ENST00000222115.1	-	5	1704	c.1670C>T	c.(1669-1671)aCg>aTg	p.T557M	HAS1_ENST00000601714.1_Missense_Mutation_p.T564M|HAS1_ENST00000540069.2_Missense_Mutation_p.T556M	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	557					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)	p.T557M(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CCAGTACAGCGTCAACATGGC	0.726																																					p.T557M	NSCLC(132;636 2450 45807 47979)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1670T	19						.						12.0	14.0	13.0					19																	52216747		2171	4260	6431	56908559	SO:0001583	missense	3036	exon5			U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.1670C>T	19.37:g.52216747G>A	ENSP00000222115:p.Thr557Met		56908559	NM_001523	Q14470|Q9NS49	Missense_Mutation	SNP	ENST00000222115.1	37	CCDS12838.1	.	.	.	.	.	.	.	.	.	.	g	5.069	0.198357	0.09652	.	.	ENSG00000105509	ENST00000540069;ENST00000222115	T;T	0.30714	1.52;1.52	3.25	3.25	0.37280	.	0.338156	0.28296	U	0.015866	T	0.15003	0.0362	N	0.16656	0.425	0.09310	N	1	B;B;B	0.24675	0.109;0.066;0.066	B;B;B	0.14023	0.01;0.005;0.005	T	0.11518	-1.0584	10	0.25106	T	0.35	-46.6351	6.4733	0.22020	0.1368:0.0:0.8631:0.0	.	556;557;556	G3V1S7;Q92839;Q8IYH3	.;HAS1_HUMAN;.	M	556;557	ENSP00000445021:T556M;ENSP00000222115:T557M	ENSP00000222115:T557M	T	-	2	0	HAS1	56908559	0.023000	0.18921	0.170000	0.22879	0.612000	0.37316	2.473000	0.45145	1.820000	0.53075	0.174000	0.16983	ACG		0.726	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	NM_001523	
ZNF480	147657	broad.mit.edu	37	19	52825983	52825983	+	Nonsense_Mutation	SNP	C	C	T	rs113675780		TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr19:52825983C>T	ENST00000595962.1	+	5	1546	c.1480C>T	c.(1480-1482)Cga>Tga	p.R494*	ZNF480_ENST00000334564.7_Nonsense_Mutation_p.R451*|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000335090.6_Nonsense_Mutation_p.R417*|ZNF480_ENST00000490272.1_3'UTR	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	494					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.R475*(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		GGTCTTCAATCGAATTGCACA	0.413																																					p.R494X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1480T	19						.						85.0	85.0	85.0					19																	52825983		2203	4300	6503	57517795	SO:0001587	stop_gained	147657	exon5			AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"""Zinc fingers, C2H2-type"", ""-"""	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.1480C>T	19.37:g.52825983C>T	ENSP00000471754:p.Arg494*		57517795	NM_144684	Q5JPG9|Q6P0Q4|Q8N1M5	Nonsense_Mutation	SNP	ENST00000595962.1	37	CCDS12850.2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.049777	0.75846	.	.	ENSG00000198464	ENST00000468240;ENST00000334564;ENST00000335090	.	.	.	2.25	-4.51	0.03483	.	.	.	.	.	.	.	.	.	.	.	0.52501	D	0.999955	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	2.3354	0.04246	0.3897:0.258:0.257:0.0953	.	.	.	.	X	494;451;417	.	ENSP00000334164:R451X	R	+	1	2	ZNF480	57517795	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.968000	0.01507	-2.099000	0.00849	-0.354000	0.07668	CGA		0.413	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3	NM_144684	
KIR3DX1	90011	broad.mit.edu	37	19	55048366	55048366	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr19:55048366C>A	ENST00000335056.3	+	5	971	c.933C>A	c.(931-933)tgC>tgA	p.C311*	KIR3DX1_ENST00000482404.1_3'UTR			Q9H7L2	KI3X1_HUMAN	killer cell immunoglobulin-like receptor, three domains, X1	311	Ig-like C2-type 2.					extracellular region (GO:0005576)		p.C311*(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		TGACCCGCTGCAACTTTACAC	0.602																																					.	Colon(183;529 2002 28270 32358 35845)|Esophageal Squamous(50;443 1006 2278 10294 37938)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	.	19						.						57.0	57.0	57.0					19																	55048366		1960	4157	6117	59740178	SO:0001587	stop_gained	90011	.			BC033195		19q13.42	2013-03-26	2006-09-12	2006-09-12	ENSG00000104970	ENSG00000104970		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	25043	other	unknown			"""leukocyte receptor cluster (LRC) member 12"""	LENG12		11441184	Standard	NR_026716		Approved	FLJ00060	uc010erm.2	Q9H7L2	OTTHUMG00000065696	ENST00000335056.3:c.933C>A	19.37:g.55048366C>A	ENSP00000335388:p.Cys311*		59740178	.	B7WNL0|Q8N0S4	Nonsense_Mutation	SNP	ENST00000335056.3	37		.	.	.	.	.	.	.	.	.	.	C	13.78	2.340192	0.41398	.	.	ENSG00000104970	ENST00000335056	.	.	.	1.79	-0.836	0.10770	.	.	.	.	.	.	.	.	.	.	.	0.58432	A	0.999995	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.5826	0.07959	0.2526:0.4071:0.3403:0.0	.	.	.	.	X	311	.	ENSP00000221567:C311X	C	+	3	2	KIR3DX1	59740178	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.556000	0.02168	-0.119000	0.11830	0.650000	0.86243	TGC		0.602	KIR3DX1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000140800.2	NR_026716	
COL11A1	1301	broad.mit.edu	37	1	103412406	103412406	+	Splice_Site	SNP	G	G	A			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr1:103412406G>A	ENST00000370096.3	-	42	3587	c.3275C>T	c.(3274-3276)cCt>cTt	p.P1092L	COL11A1_ENST00000353414.4_Splice_Site_p.P1053L|COL11A1_ENST00000358392.2_Splice_Site_p.P1104L|COL11A1_ENST00000512756.1_Splice_Site_p.P976L	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1092	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.P1104L(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ATTACTTACAGGAGCACCTTT	0.473																																					p.P1092L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3275T	1						.						35.0	32.0	33.0					1																	103412406		2203	4300	6503	103184994	SO:0001630	splice_region_variant	1301	exon42			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3276+1C>T	1.37:g.103412406G>A			103184994	NM_001854	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991055	0.74703	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.96685	-4.09;-4.09;-4.09;-4.09	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.96414	0.8830	L	0.28740	0.885	0.80722	D	1	D;P;D;D;D	0.89917	1.0;0.896;1.0;1.0;1.0	D;P;D;D;D	0.91635	0.996;0.891;0.999;0.997;0.998	D	0.97385	0.9985	10	0.66056	D	0.02	.	19.0317	0.92960	0.0:0.0:1.0:0.0	.	976;1053;1104;1092;312	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	L	1092;1104;1053;312;976	ENSP00000359114:P1092L;ENSP00000351163:P1104L;ENSP00000302551:P1053L;ENSP00000426533:P976L	ENSP00000302551:P1053L	P	-	2	0	COL11A1	103184994	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.741000	0.98843	2.580000	0.87095	0.650000	0.86243	CCT		0.473	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	Missense_Mutation
RRNAD1	51093	broad.mit.edu	37	1	156704212	156704212	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr1:156704212C>T	ENST00000368216.4	+	6	1678	c.1048C>T	c.(1048-1050)Cga>Tga	p.R350*	RRNAD1_ENST00000476229.1_Intron|MRPL24_ENST00000478899.1_5'Flank|RRNAD1_ENST00000368218.4_Intron	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	350						integral component of membrane (GO:0016021)	rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)	p.R350*(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						GACAGTCATCCGACGGGCCCG	0.657																																					p.R350X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1048T	1						.						20.0	19.0	19.0					1																	156704212		2201	4300	6501	154970836	SO:0001587	stop_gained	51093	exon6			BC011382	CCDS1154.1, CCDS44246.1	1q23.1	2011-01-28	2011-01-28	2011-01-28	ENSG00000143303	ENSG00000143303			24273	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 66"""	C1orf66		10810093, 310876	Standard	NM_015997		Approved	CGI-41	uc001fpu.3	Q96FB5	OTTHUMG00000041302	ENST00000368216.4:c.1048C>T	1.37:g.156704212C>T	ENSP00000357199:p.Arg350*		154970836	NM_015997	D3DVC7|Q4VX71|Q5SZ03|Q9Y358	Nonsense_Mutation	SNP	ENST00000368216.4	37	CCDS1154.1	.	.	.	.	.	.	.	.	.	.	C	36	5.972091	0.97162	.	.	ENSG00000143303	ENST00000368216;ENST00000519086	.	.	.	5.15	5.15	0.70609	.	0.054807	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-14.9534	17.5425	0.87852	0.0:1.0:0.0:0.0	.	.	.	.	X	350;329	.	ENSP00000357199:R350X	R	+	1	2	RRNAD1	154970836	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	1.779000	0.38624	2.577000	0.86979	0.561000	0.74099	CGA		0.657	RRNAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098973.1	NM_015997	
OR6K2	81448	broad.mit.edu	37	1	158670125	158670125	+	Silent	SNP	G	G	A			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr1:158670125G>A	ENST00000359610.2	-	1	361	c.318C>T	c.(316-318)acC>acT	p.T106T		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T106T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					CACAGATGCCGGTGGAATGGA	0.483																																					p.T106T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C318T	1						.						102.0	95.0	97.0					1																	158670125		2203	4300	6503	156936749	SO:0001819	synonymous_variant	81448	exon1			BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.318C>T	1.37:g.158670125G>A			156936749	NM_001005279	B9EH33|Q6IFR6	Silent	SNP	ENST00000359610.2	37	CCDS30902.1																																																																																				0.483	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279	
SPEN	23013	broad.mit.edu	37	1	16261135	16261135	+	Silent	SNP	G	G	A			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr1:16261135G>A	ENST00000375759.3	+	11	8604	c.8400G>A	c.(8398-8400)gcG>gcA	p.A2800A		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2800	Interaction with RBPSUH. {ECO:0000250}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.A2800A(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CGGCAGACGCGGGCTCAGGGG	0.592																																					p.A2800A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G8400A	1						.						41.0	46.0	45.0					1																	16261135		2203	4300	6503	16133722	SO:0001819	synonymous_variant	23013	exon11				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.8400G>A	1.37:g.16261135G>A			16133722	NM_015001	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	CCDS164.1																																																																																				0.592	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001	
LRRC41	10489	broad.mit.edu	37	1	46751948	46751948	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr1:46751948G>A	ENST00000343304.6	-	4	866	c.581C>T	c.(580-582)tCc>tTc	p.S194F	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	194					protein ubiquitination (GO:0016567)	membrane (GO:0016020)		p.S194F(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					AGTGTGCAGGGAGCTGGCCAG	0.602																																					p.S194F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C581T	1						.						54.0	56.0	55.0					1																	46751948		2203	4300	6503	46524535	SO:0001583	missense	10489	exon4			AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.581C>T	1.37:g.46751948G>A	ENSP00000343298:p.Ser194Phe		46524535	NM_006369	A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Missense_Mutation	SNP	ENST00000343304.6	37	CCDS533.1	.	.	.	.	.	.	.	.	.	.	g	17.18	3.322810	0.60634	.	.	ENSG00000132128	ENST00000343304;ENST00000371972;ENST00000254454	D	0.84442	-1.85	5.11	4.18	0.49190	.	0.000000	0.64402	D	0.000001	D	0.85557	0.5724	L	0.27053	0.805	0.39530	D	0.968647	D;P;D	0.61697	0.99;0.918;0.99	P;P;P	0.58266	0.836;0.823;0.836	D	0.88077	0.2804	10	0.87932	D	0	-2.1551	15.4867	0.75573	0.0:0.1392:0.8608:0.0	.	194;172;194	Q15345-3;E9PE58;Q15345	.;.;LRC41_HUMAN	F	194;172;23	ENSP00000343298:S194F	ENSP00000254454:S23F	S	-	2	0	LRRC41	46524535	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	4.629000	0.61290	1.126000	0.42016	0.444000	0.29173	TCC		0.602	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021438.1	NM_006369	
VANGL2	57216	broad.mit.edu	37	1	160390205	160390205	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr1:160390205C>T	ENST00000368061.2	+	5	1279	c.805C>T	c.(805-807)Cag>Tag	p.Q269*	VANGL2_ENST00000483408.1_Intron	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	269					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)		p.Q269*(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCACAGCATCCAGCGCGTGGC	0.607																																					p.Q269X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C805T	1						.						123.0	104.0	110.0					1																	160390205		2203	4300	6503	158656829	SO:0001587	stop_gained	57216	exon5			AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"""vang, van gogh-like 2"", ""loop-tail-associated protein"", ""strabismus"""	600533	"""vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)"", ""vang-like 2 (van gogh, Drosophila)"""			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.805C>T	1.37:g.160390205C>T	ENSP00000357040:p.Gln269*		158656829	NM_020335	D3DVE9|Q5T212	Nonsense_Mutation	SNP	ENST00000368061.2	37	CCDS30915.1	.	.	.	.	.	.	.	.	.	.	C	42	9.545690	0.99201	.	.	ENSG00000162738	ENST00000368061	.	.	.	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.6218	16.804	0.85621	0.0:1.0:0.0:0.0	.	.	.	.	X	269	.	ENSP00000357040:Q269X	Q	+	1	0	VANGL2	158656829	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.260000	0.78391	2.537000	0.85549	0.561000	0.74099	CAG		0.607	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080677.1	NM_020335	
ATP9A	10079	broad.mit.edu	37	20	50230368	50230368	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr20:50230368C>A	ENST00000338821.5	-	23	2683	c.2419G>T	c.(2419-2421)Gga>Tga	p.G807*	ATP9A_ENST00000402822.1_Nonsense_Mutation_p.G686*|ATP9A_ENST00000311637.5_Nonsense_Mutation_p.G671*	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	807					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.G807*(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GCCTGTTTTCCTTCCTAAAAT	0.443																																					p.G807X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G2419T	20						.						110.0	113.0	112.0					20																	50230368		2203	4300	6503	49663775	SO:0001587	stop_gained	10079	exon23			AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.2419G>T	20.37:g.50230368C>A	ENSP00000342481:p.Gly807*		49663775	NM_006045	E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Nonsense_Mutation	SNP	ENST00000338821.5	37	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	C	42	9.667158	0.99233	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	.	.	.	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.9388	18.1056	0.89519	0.0:1.0:0.0:0.0	.	.	.	.	X	671;807;686	.	ENSP00000309086:G671X	G	-	1	0	ATP9A	49663775	1.000000	0.71417	0.999000	0.59377	0.892000	0.51952	7.380000	0.79704	2.265000	0.75225	0.561000	0.74099	GGA		0.443	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045	
RIPPLY3	53820	broad.mit.edu	37	21	38390586	38390586	+	3'UTR	SNP	G	G	A			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr21:38390586G>A	ENST00000329553.2	+	0	862				RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1	P57055	DSCR6_HUMAN	ripply transcriptional repressor 3						heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pharyngeal system development (GO:0060037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)											AGGACACTACGCATCCCTGCT	0.572																																					.												.	.	0			.	21						.																																			37312456	SO:0001624	3_prime_UTR_variant	53820	.			AB037158	CCDS13648.1	21q22.2	2013-07-23	2013-07-23	2013-06-04	ENSG00000183145	ENSG00000183145			3047	protein-coding gene	gene with protein product		609892	"""Down syndrome critical region gene 6"", ""ripply3 homolog (zebrafish)"""	DSCR6		10814524, 22354841	Standard	NM_018962		Approved			P57055	OTTHUMG00000086639	ENST00000329553.2:c.*79G>A	21.37:g.38390586G>A			37312456	.		Silent	SNP	ENST00000329553.2	37	CCDS13648.1																																																																																				0.572	RIPPLY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194703.1		
KRTAP10-8	386681	broad.mit.edu	37	21	46032742	46032742	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr21:46032742C>T	ENST00000334662.2	+	1	747	c.725C>T	c.(724-726)cCg>cTg	p.P242L	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	242	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.P242L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						tgctgccacccggcctcctgc	0.711																																					p.P242L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C725T	21						.						35.0	43.0	41.0					21																	46032742		2203	4298	6501	44857170	SO:0001583	missense	386681	exon1			AB076355	CCDS13713.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000187766	ENSG00000187766		"""Keratin associated proteins"""	20525	protein-coding gene	gene with protein product			"""keratin associated protein 18-8"""	KRTAP18-8			Standard	NM_198695		Approved	KRTAP18.8, KAP10.8	uc002zfo.1	P60410	OTTHUMG00000057632	ENST00000334662.2:c.725C>T	21.37:g.46032742C>T	ENSP00000335565:p.Pro242Leu		44857170	NM_198695	A0JNW4	Missense_Mutation	SNP	ENST00000334662.2	37	CCDS13713.1	.	.	.	.	.	.	.	.	.	.	c	6.938	0.542885	0.13250	.	.	ENSG00000187766	ENST00000334662	T	0.00808	5.67	3.24	2.32	0.28847	.	.	.	.	.	T	0.03305	0.0096	M	0.70275	2.135	0.20638	N	0.99988	D	0.69078	0.997	P	0.58620	0.842	T	0.33854	-0.9852	9	0.72032	D	0.01	.	9.4392	0.38657	0.2147:0.7853:0.0:0.0	.	242	P60410	KR108_HUMAN	L	242	ENSP00000335565:P242L	ENSP00000335565:P242L	P	+	2	0	KRTAP10-8	44857170	0.000000	0.05858	0.335000	0.25508	0.003000	0.03518	-0.146000	0.10250	0.448000	0.26722	0.467000	0.42956	CCG		0.711	KRTAP10-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128035.1	NM_198695	
C22orf23	84645	broad.mit.edu	37	22	38349056	38349056	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr22:38349056C>G	ENST00000249079.2	-	2	357	c.101G>C	c.(100-102)aGa>aCa	p.R34T	RP5-1039K5.17_ENST00000609976.1_RNA|C22orf23_ENST00000403305.1_Missense_Mutation_p.R34T|POLR2F_ENST00000405557.1_5'Flank|C22orf23_ENST00000403026.1_Missense_Mutation_p.R34T|POLR2F_ENST00000488684.1_5'Flank|POLR2F_ENST00000442738.2_5'Flank|POLR2F_ENST00000407936.1_5'Flank|POLR2F_ENST00000606538.1_5'Flank|POLR2F_ENST00000460648.1_5'Flank|POLR2F_ENST00000470701.1_5'Flank			Q9BZE7	EVG1_HUMAN	chromosome 22 open reading frame 23	34								p.R34T(1)		endometrium(3)|kidney(2)|large_intestine(7)	12	Melanoma(58;0.045)					GGACTGACCTCTGAGCAGCTC	0.567																																					p.R34T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G101C	22						.						125.0	122.0	123.0					22																	38349056		2203	4300	6503	36679002	SO:0001583	missense	84645	exon2			AF324466	CCDS13962.1, CCDS74860.1	22q13.1	2013-10-11			ENSG00000128346	ENSG00000128346			18589	protein-coding gene	gene with protein product						11237012	Standard	NM_032561		Approved	FLJ32787, EVG1, LOC84645	uc003auj.2	Q9BZE7	OTTHUMG00000150672	ENST00000249079.2:c.101G>C	22.37:g.38349056C>G	ENSP00000249079:p.Arg34Thr		36679002	NM_032561	Q5JYU9|Q96M68	Missense_Mutation	SNP	ENST00000249079.2	37	CCDS13962.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641591	0.67244	.	.	ENSG00000128346	ENST00000403305;ENST00000249079;ENST00000403026;ENST00000418863;ENST00000422191	T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65	4.74	0.208	0.15221	.	0.486293	0.23224	N	0.050530	T	0.51329	0.1668	M	0.75264	2.295	0.80722	D	1	P	0.42518	0.782	P	0.47941	0.562	T	0.52888	-0.8515	10	0.72032	D	0.01	-2.6485	7.736	0.28815	0.0:0.6216:0.0:0.3784	.	34	Q9BZE7	EVG1_HUMAN	T	34	ENSP00000384667:R34T;ENSP00000249079:R34T;ENSP00000384618:R34T;ENSP00000395077:R34T;ENSP00000407707:R34T	ENSP00000249079:R34T	R	-	2	0	C22orf23	36679002	0.982000	0.34865	0.935000	0.37517	0.925000	0.55904	0.068000	0.14531	0.179000	0.19938	-0.263000	0.10527	AGA		0.567	C22orf23-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319564.1	NM_032561	
KCNJ4	3761	broad.mit.edu	37	22	38823967	38823967	+	Silent	SNP	G	G	A			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr22:38823967G>A	ENST00000303592.3	-	2	429	c.171C>T	c.(169-171)taC>taT	p.Y57Y	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	57					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)	p.Y57Y(1)		endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					TCATGAGCATGTAGCGCCAGC	0.587																																					p.Y57Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C171T	22						.						222.0	146.0	172.0					22																	38823967		2203	4300	6503	37153913	SO:0001819	synonymous_variant	3761	exon2			U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.171C>T	22.37:g.38823967G>A			37153913	NM_004981	Q14D44	Silent	SNP	ENST00000303592.3	37	CCDS13971.1																																																																																				0.587	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321447.1	NM_004981	
MYO1B	4430	broad.mit.edu	37	2	192275866	192275867	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	-	-	-	TG	-	-	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr2:192275866_192275867insTG	ENST00000392318.3	+	27	3088_3089	c.2841_2842insTG	c.(2842-2844)ttcfs	p.F948fs	MYO1B_ENST00000339514.4_Frame_Shift_Ins_p.F890fs|MYO1B_ENST00000392316.1_Frame_Shift_Ins_p.F919fs|MYO1B_ENST00000439065.2_Frame_Shift_Ins_p.F193fs|MYO1B_ENST00000304164.4_Frame_Shift_Ins_p.F948fs	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	948	Myosin tail. {ECO:0000255}.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.F890fs*47(1)		NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			CCAGTGAACTCTTCAAAGACAA	0.351																																					p.L947fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.2841_2842insTG	2						.																																			191984112	SO:0001589	frameshift_variant	4430	exon27			L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	Exception_encountered	2.37:g.192275866_192275867insTG	ENSP00000376132:p.Phe948fs		191984111	NM_001130158	O43794|Q7Z6L5	Frame_Shift_Ins	INS	ENST00000392318.3	37	CCDS46477.1																																																																																				0.351	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223	
LRP1B	53353	broad.mit.edu	37	2	141607754	141607754	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr2:141607754C>T	ENST00000389484.3	-	29	5827	c.4856G>A	c.(4855-4857)cGt>cAt	p.R1619H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1619					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.R1619H(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCAGTATAAACGTTCCTCAGA	0.363										TSP Lung(27;0.18)																											p.R1619H	Colon(99;50 2074 2507 20106)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4856A	2						.						193.0	191.0	192.0					2																	141607754		2203	4300	6503	141324224	SO:0001583	missense	53353	exon29			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4856G>A	2.37:g.141607754C>T	ENSP00000374135:p.Arg1619His		141324224	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	35	5.494201	0.96339	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;T	0.96802	-4.13;1.44	5.32	5.32	0.75619	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	U	0.000001	D	0.96876	0.8980	L	0.43598	1.365	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95087	0.8218	10	0.15066	T	0.55	.	19.0025	0.92839	0.0:1.0:0.0:0.0	.	802;1619	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	H	1619;1557;764	ENSP00000374135:R1619H;ENSP00000413239:R764H	ENSP00000374135:R1619H	R	-	2	0	LRP1B	141324224	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.771000	0.85420	2.507000	0.84556	0.313000	0.20887	CGT		0.363	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
TTC21B	79809	broad.mit.edu	37	2	166797675	166797675	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr2:166797675C>T	ENST00000243344.7	-	6	709	c.572G>A	c.(571-573)cGc>cAc	p.R191H	AC010127.5_ENST00000440322.1_RNA|AC010127.5_ENST00000443032.1_RNA	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	191					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)		p.R191H(1)		breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						ATAATTCTGGCGCATCTCAAG	0.413																																					p.R191H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G572A	2						.						81.0	78.0	79.0					2																	166797675		2203	4300	6503	166505921	SO:0001583	missense	79809	exon6			AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.572G>A	2.37:g.166797675C>T	ENSP00000243344:p.Arg191His		166505921	NM_024753	A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485298	0.44147	.	.	ENSG00000123607	ENST00000243344	T	0.63580	-0.05	5.38	2.44	0.29823	Tetratricopeptide-like helical (1);	0.209256	0.51477	N	0.000087	T	0.46946	0.1419	L	0.40543	1.245	0.80722	D	1	B;B	0.27853	0.191;0.051	B;B	0.25405	0.06;0.025	T	0.22521	-1.0214	10	0.30078	T	0.28	-0.325	7.1139	0.25407	0.1301:0.6763:0.1253:0.0683	.	191;191	Q7Z4L5-2;Q7Z4L5	.;TT21B_HUMAN	H	191	ENSP00000243344:R191H	ENSP00000243344:R191H	R	-	2	0	TTC21B	166505921	0.986000	0.35501	0.540000	0.28089	0.864000	0.49448	2.700000	0.47085	0.278000	0.22164	0.650000	0.86243	CGC		0.413	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753	
TTN	7273	broad.mit.edu	37	2	179429455	179429455	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr2:179429455G>T	ENST00000591111.1	-	276	76705	c.76481C>A	c.(76480-76482)aCt>aAt	p.T25494N	TTN_ENST00000589042.1_Missense_Mutation_p.T27135N|TTN_ENST00000342175.6_Missense_Mutation_p.T18262N|TTN_ENST00000342992.6_Missense_Mutation_p.T24567N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T18070N|TTN_ENST00000359218.5_Missense_Mutation_p.T18195N|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25494	Fibronectin type-III 85. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T18262N(1)|p.T18070N(1)|p.T18195N(1)|p.T24565N(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCAAGCCCAGTTGTTTTGAA	0.393																																					p.L18070M												.	.	4	Substitution - Missense(4)	large_intestine(4)	c.C54208A	2						.						43.0	44.0	44.0					2																	179429455		1873	4093	5966	179137701	SO:0001583	missense	7273	exon154			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.76481C>A	2.37:g.179429455G>T	ENSP00000465570:p.Thr25494Asn		179137701	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	10.04	1.242330	0.22796	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	6.02	6.02	0.97574	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52533	0.1740	L	0.41961	1.31	0.27984	N	0.935926	B;B;B;B	0.09022	0.002;0.002;0.002;0.002	B;B;B;B	0.12156	0.007;0.007;0.007;0.007	T	0.50074	-0.8870	9	0.87932	D	0	.	13.4114	0.60944	0.0:0.0:0.743:0.257	.	18070;18195;18262;25494	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	24567;18070;18262;18195;18068	ENSP00000343764:T24567N;ENSP00000434586:T18070N;ENSP00000340554:T18262N;ENSP00000352154:T18195N	ENSP00000340554:T18262N	T	-	2	0	TTN	179137701	1.000000	0.71417	0.990000	0.47175	0.992000	0.81027	4.000000	0.57039	2.857000	0.98124	0.650000	0.86243	ACT		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TNS1	7145	broad.mit.edu	37	2	218675039	218675039	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr2:218675039G>T	ENST00000171887.4	-	29	5176	c.4724C>A	c.(4723-4725)cCc>cAc	p.P1575H	TNS1_ENST00000430930.1_Missense_Mutation_p.P1554H|TNS1_ENST00000419504.1_Missense_Mutation_p.P1561H	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1575					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)	p.P1575H(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TTCATCTGTGGGGTCTAAGAC	0.502																																					p.P1575H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4724A	2						.						96.0	92.0	93.0					2																	218675039		2203	4300	6503	218383284	SO:0001583	missense	7145	exon29			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.4724C>A	2.37:g.218675039G>T	ENSP00000171887:p.Pro1575His		218383284	NM_022648	Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388996	0.82902	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.12	5.12	0.69794	SH2 motif (1);	.	.	.	.	T	0.79423	0.4443	M	0.75615	2.305	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.602	D;D;P	0.91635	0.971;0.999;0.761	T	0.80747	-0.1244	9	0.59425	D	0.04	.	17.7439	0.88414	0.0:0.0:1.0:0.0	.	1575;1554;1561	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	H	1575;713;1561;1554	ENSP00000171887:P1575H;ENSP00000394171:P713H;ENSP00000408724:P1561H;ENSP00000406016:P1554H	ENSP00000171887:P1575H	P	-	2	0	TNS1	218383284	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.879000	0.56138	2.668000	0.90789	0.643000	0.83706	CCC		0.502	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648	
NRXN1	9378	broad.mit.edu	37	2	50280431	50280431	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr2:50280431G>C	ENST00000406316.2	-	20	5492	c.4016C>G	c.(4015-4017)cCg>cGg	p.P1339R	NRXN1_ENST00000404971.1_Missense_Mutation_p.P1409R|NRXN1_ENST00000401710.1_Missense_Mutation_p.P357R|NRXN1_ENST00000402717.3_Missense_Mutation_p.P1361R|NRXN1_ENST00000406859.3_Missense_Mutation_p.P1339R|NRXN1_ENST00000342183.5_Missense_Mutation_p.P304R|NRXN1_ENST00000401669.2_Missense_Mutation_p.P1369R|NRXN1_ENST00000405472.3_Missense_Mutation_p.P1361R	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1339					adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.P1410R(1)|p.P1339R(1)|p.P304R(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTCTTTTGTCGGGGGCTTTCC	0.448																																					p.P304R												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C911G	2						.						108.0	117.0	114.0					2																	50280431		2203	4300	6503	50133935	SO:0001583	missense	9378	exon4			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.4016C>G	2.37:g.50280431G>C	ENSP00000384311:p.Pro1339Arg		50133935	NM_138735	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663461	0.47572	.	.	ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T;T;T	0.71222	0.99;2.18;0.17;0.16;-0.55;-0.44;-0.15;0.02	5.39	5.39	0.77823	.	0.250151	0.24262	U	0.040076	T	0.79185	0.4403	L	0.39245	1.2	0.40816	D	0.983462	B;P;P;P	0.52577	0.016;0.929;0.954;0.613	B;P;D;B	0.64321	0.029;0.629;0.924;0.314	T	0.81357	-0.0969	10	0.87932	D	0	.	19.1378	0.93435	0.0:0.0:1.0:0.0	.	1409;304;1339;1361	Q9ULB1-3;P58400;F8WB18;A7E294	.;NRX1B_HUMAN;.;.	R	304;258;357;1409;1339;1361;1369;1410;1361;1339	ENSP00000341184:P304R;ENSP00000385580:P357R;ENSP00000385142:P1409R;ENSP00000384311:P1339R;ENSP00000434015:P1361R;ENSP00000385017:P1369R;ENSP00000385434:P1361R;ENSP00000385681:P1339R	ENSP00000341184:P304R	P	-	2	0	NRXN1	50133935	1.000000	0.71417	0.630000	0.29268	0.481000	0.33189	9.620000	0.98373	2.523000	0.85059	0.655000	0.94253	CCG		0.448	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2		
ADD2	119	broad.mit.edu	37	2	70931502	70931502	+	Silent	SNP	C	C	T			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr2:70931502C>T	ENST00000264436.4	-	4	717	c.273G>A	c.(271-273)gcG>gcA	p.A91A	ADD2_ENST00000473232.1_5'Flank|ADD2_ENST00000430656.1_Silent_p.A107A|ADD2_ENST00000413157.2_Silent_p.A91A|ADD2_ENST00000355733.3_Silent_p.A91A|ADD2_ENST00000407644.2_Silent_p.A91A	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	91					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)	p.A91A(2)		autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CCATGAAGTCCGCGATCTGTC	0.602																																					p.A91A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G273A	2						.						159.0	137.0	144.0					2																	70931502		2203	4300	6503	70785010	SO:0001819	synonymous_variant	119	exon4			X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.273G>A	2.37:g.70931502C>T			70785010	NM_001185054	A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Silent	SNP	ENST00000264436.4	37	CCDS1906.1																																																																																				0.602	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617	
SNRNP200	23020	broad.mit.edu	37	2	96957182	96957182	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr2:96957182G>T	ENST00000323853.5	-	18	2446	c.2369C>A	c.(2368-2370)aCc>aAc	p.T790N	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	790	Helicase C-terminal 1. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.T790N(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GTCAACCCTGGTCATGCCTGC	0.507																																					p.T790N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2369A	2						.						144.0	144.0	144.0					2																	96957182		2203	4300	6503	96320909	SO:0001583	missense	23020	exon18			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.2369C>A	2.37:g.96957182G>T	ENSP00000317123:p.Thr790Asn		96320909	NM_014014	O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.476387	0.44044	.	.	ENSG00000144028	ENST00000323853;ENST00000540328	T	0.42131	0.98	5.68	5.68	0.88126	Helicase, C-terminal (3);	0.049799	0.85682	D	0.000000	T	0.31796	0.0808	N	0.20304	0.555	0.80722	D	1	B	0.18013	0.025	B	0.29524	0.103	T	0.08785	-1.0705	10	0.27785	T	0.31	-18.9518	14.2134	0.65778	0.0:0.1497:0.8503:0.0	.	790	O75643	U520_HUMAN	N	790;465	ENSP00000317123:T790N	ENSP00000317123:T790N	T	-	2	0	SNRNP200	96320909	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.273000	0.72581	2.679000	0.91253	0.650000	0.86243	ACC		0.507	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014	
PAX3	5077	broad.mit.edu	37	2	223066812	223066812	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr2:223066812G>A	ENST00000350526.4	-	8	1407	c.1271C>T	c.(1270-1272)aCg>aTg	p.T424M	PAX3_ENST00000392070.2_Missense_Mutation_p.T424M|PAX3_ENST00000344493.4_Intron|PAX3_ENST00000409551.3_Missense_Mutation_p.T423M|PAX3_ENST00000392069.2_Missense_Mutation_p.T424M|PAX3_ENST00000336840.6_Intron|PAX3_ENST00000464706.1_5'UTR	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	424					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T424M(2)	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCCGACACCGTGGTGGTAGG	0.577			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																														p.T423M			Dom	yes		2	2q35	5077	paired box gene 3	yes	M	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1268T	2						.						95.0	86.0	89.0					2																	223066812		2203	4300	6503	222775056	SO:0001583	missense	5077	exon8				CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.1271C>T	2.37:g.223066812G>A	ENSP00000343052:p.Thr424Met		222775056	NM_001127366	G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	CCDS42826.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.385618	0.61956	.	.	ENSG00000135903	ENST00000392069;ENST00000350526;ENST00000392070;ENST00000409551;ENST00000464706	D;D;D;D	0.94280	-3.38;-3.39;-3.36;-3.37	5.81	5.81	0.92471	.	0.000000	0.52532	D	0.000068	D	0.89406	0.6706	N	0.22421	0.69	0.80722	D	1	P;P;P	0.52577	0.863;0.606;0.954	B;B;B	0.41571	0.302;0.09;0.36	D	0.89552	0.3800	10	0.44086	T	0.13	.	20.0784	0.97758	0.0:0.0:1.0:0.0	.	424;423;424	P23760;Q494Z4;G5E9C1	PAX3_HUMAN;.;.	M	424;424;424;423;141	ENSP00000375921:T424M;ENSP00000343052:T424M;ENSP00000375922:T424M;ENSP00000386750:T423M	ENSP00000343052:T424M	T	-	2	0	PAX3	222775056	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	6.635000	0.74295	2.736000	0.93811	0.655000	0.94253	ACG		0.577	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1		
KIAA2018	205717	broad.mit.edu	37	3	113380093	113380093	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr3:113380093T>G	ENST00000478658.1	-	5	453	c.436A>C	c.(436-438)Aaa>Caa	p.K146Q	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.K146Q			Q68DE3	K2018_HUMAN	KIAA2018	146						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.K146Q(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						ACAATAATTTTTTTTTGAACC	0.363																																					p.K146Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A436C	3						.						89.0	86.0	87.0					3																	113380093		1810	4072	5882	114862783	SO:0001583	missense	205717	exon7			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.436A>C	3.37:g.113380093T>G	ENSP00000420721:p.Lys146Gln		114862783	NM_001009899	Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	T	12.32	1.903511	0.33628	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.14391	2.51;2.51	5.95	5.95	0.96441	.	0.126894	0.53938	D	0.000043	T	0.07908	0.0198	N	0.08118	0	0.19300	N	0.999978	B	0.06786	0.001	B	0.01281	0.0	T	0.22521	-1.0214	10	0.54805	T	0.06	-9.0688	10.7105	0.45980	0.0:0.0707:0.0:0.9293	.	146	Q68DE3	K2018_HUMAN	Q	146	ENSP00000320794:K146Q;ENSP00000420721:K146Q	ENSP00000320794:K146Q	K	-	1	0	KIAA2018	114862783	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.167000	0.58209	2.279000	0.76181	0.533000	0.62120	AAA		0.363	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899	
CCDC37	348807	broad.mit.edu	37	3	126138986	126138986	+	Silent	SNP	G	G	A	rs373852507		TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr3:126138986G>A	ENST00000352312.1	+	11	1095	c.996G>A	c.(994-996)acG>acA	p.T332T	CCDC37_ENST00000393425.1_Silent_p.T333T|CCDC37_ENST00000505024.1_Silent_p.T333T	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	332								p.T332T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		TTCTGCAGACGATGCGGCTGG	0.647																																					p.T332T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G996A	3						.	G		0,4404		0,0,2202	27.0	28.0	28.0		996	-3.4	0.0	3		28	1,8597		0,1,4298	no	coding-synonymous	CCDC37	NM_182628.2		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		332/612	126138986	1,13001	2202	4299	6501	127621676	SO:0001819	synonymous_variant	348807	exon11			AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.996G>A	3.37:g.126138986G>A			127621676	NM_182628	D3DNA8|Q494V1|Q494V4|Q8N838	Silent	SNP	ENST00000352312.1	37	CCDS3037.1																																																																																				0.647	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628	
EPHB1	2047	broad.mit.edu	37	3	134911460	134911460	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr3:134911460G>A	ENST00000398015.3	+	11	2295	c.1925G>A	c.(1924-1926)gGc>gAc	p.G642D	EPHB1_ENST00000493838.1_Missense_Mutation_p.G203D	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	642	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.G642D(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AAACTGCCAGGCAAGAGGGAA	0.522																																					p.G642D												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1925A	3						.						69.0	74.0	72.0					3																	134911460		2161	4294	6455	136394150	SO:0001583	missense	2047	exon11			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1925G>A	3.37:g.134911460G>A	ENSP00000381097:p.Gly642Asp		136394150	NM_004441	A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.044314	0.93685	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.68479	-0.33;-0.33	5.25	5.25	0.73442	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.054702	0.64402	D	0.000001	T	0.63331	0.2502	N	0.14661	0.345	0.80722	D	1	P	0.45672	0.864	P	0.50570	0.644	T	0.70252	-0.4923	10	0.87932	D	0	.	18.8356	0.92161	0.0:0.0:1.0:0.0	.	642	P54762	EPHB1_HUMAN	D	642;203	ENSP00000381097:G642D;ENSP00000419574:G203D	ENSP00000381097:G642D	G	+	2	0	EPHB1	136394150	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.809000	0.99208	2.461000	0.83175	0.561000	0.74099	GGC		0.522	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441	
CADPS	8618	broad.mit.edu	37	3	62464040	62464040	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr3:62464040C>A	ENST00000383710.4	-	23	3574	c.3225G>T	c.(3223-3225)caG>caT	p.Q1075H	CADPS_ENST00000357948.3_Missense_Mutation_p.Q996H|CADPS_ENST00000283269.9_Missense_Mutation_p.Q1036H	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1075	Interaction with DRD2.|MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.Q1075H(1)|p.Q1036H(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GAATGAAGGTCTGAAGGGCGT	0.488																																					p.Q996H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2988T	3						.						135.0	125.0	129.0					3																	62464040		2203	4300	6503	62439080	SO:0001583	missense	8618	exon20			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3225G>T	3.37:g.62464040C>A	ENSP00000373215:p.Gln1075His		62439080	NM_183393	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	CCDS46858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.41|15.41	2.825973|2.825973	0.50739|0.50739	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269|ENST00000473635	T;T;T|.	0.33654|.	1.4;1.4;1.4|.	6.06|6.06	5.18|5.18	0.71444|0.71444	Munc13 homology 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.67344|0.67344	0.2883|0.2883	M|M	0.72353|0.72353	2.195|2.195	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;0.995;0.996;1.0|.	D;D;D;D|.	0.97110|.	0.999;0.989;0.986;1.0|.	T|T	0.66031|0.66031	-0.6024|-0.6024	10|5	0.52906|.	T|.	0.07|.	.|.	10.9195|10.9195	0.47156|0.47156	0.0:0.8613:0.0:0.1387|0.0:0.8613:0.0:0.1387	.|.	996;1036;1075;1075|.	Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4|.	.;.;CAPS1_HUMAN;.|.	H|I	1075;1075;996;1036|62	ENSP00000373215:Q1075H;ENSP00000350632:Q996H;ENSP00000283269:Q1036H|.	ENSP00000283269:Q1036H|.	Q|R	-|-	3|2	2|0	CADPS|CADPS	62439080|62439080	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	2.224000|2.224000	0.42945|0.42945	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	CAG|AGA		0.488	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394	
OR5H6	79295	broad.mit.edu	37	3	97984010	97984010	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr3:97984010C>A	ENST00000383696.2	+	1	923	c.882C>A	c.(880-882)taC>taA	p.Y294*	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	294						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y294*(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CTCTATTTTACACTGTCATAG	0.378																																					p.Y294X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C882A	3						.						65.0	63.0	64.0					3																	97984010		2203	4297	6500	99466700	SO:0001587	stop_gained	79295	exon1			BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"""GPCR / Class A : Olfactory receptors"""	14767	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily H, member 6"""				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.882C>A	3.37:g.97984010C>A	ENSP00000373196:p.Tyr294*		99466700	NM_001005479	Q6IF88	Nonsense_Mutation	SNP	ENST00000383696.2	37	CCDS33800.1	.	.	.	.	.	.	.	.	.	.	-	16.34	3.095100	0.56075	.	.	ENSG00000230301	ENST00000383696	.	.	.	2.19	0.234	0.15390	.	0.000000	0.42821	D	0.000649	.	.	.	.	.	.	0.45464	D	0.998431	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.7974	0.18394	0.0:0.6689:0.0:0.3311	.	.	.	.	X	294	.	ENSP00000373196:Y294X	Y	+	3	2	OR5H6	99466700	0.000000	0.05858	0.904000	0.35570	0.582000	0.36321	-1.883000	0.01623	0.251000	0.21505	0.194000	0.17425	TAC		0.378	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2		
LPP	4026	broad.mit.edu	37	3	188477966	188477966	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr3:188477966G>T	ENST00000312675.4	+	8	1552	c.1306G>T	c.(1306-1308)Gtc>Ttc	p.V436F	LPP_ENST00000471917.1_3'UTR|LPP_ENST00000543006.1_Missense_Mutation_p.V436F	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	436	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.V436F(1)	HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		CATGGATCAGGTCTTCCACGT	0.498			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""																																p.V436F			Dom	yes		3	3q28	4026	LIM domain containing preferred translocation partner in lipoma		"""L, M"""	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1306T	3						.						169.0	144.0	152.0					3																	188477966		2203	4300	6503	189960660	SO:0001583	missense	4026	exon8			AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"""LIM domain-containing preferred translocation partner in lipoma"""			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.1306G>T	3.37:g.188477966G>T	ENSP00000318089:p.Val436Phe		189960660	NM_001167671	A1L4L6|D3DNV6|Q8NFX5	Missense_Mutation	SNP	ENST00000312675.4	37	CCDS3291.1	.	.	.	.	.	.	.	.	.	.	G	36	5.683445	0.96774	.	.	ENSG00000145012	ENST00000312675;ENST00000543006	T;T	0.51574	0.7;0.7	6.17	6.17	0.99709	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	T	0.70500	0.3231	M	0.73319	2.225	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.91635	0.999;0.985	T	0.69709	-0.5072	10	0.66056	D	0.02	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	289;436	B7Z8W0;Q93052	.;LPP_HUMAN	F	436	ENSP00000318089:V436F;ENSP00000438891:V436F	ENSP00000318089:V436F	V	+	1	0	LPP	189960660	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.835000	0.99442	2.941000	0.99782	0.655000	0.94253	GTC		0.498	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578	
STIM2	57620	broad.mit.edu	37	4	27010130	27010130	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr4:27010130delC	ENST00000467011.1	+	9	1655	c.1230delC	c.(1228-1230)gacfs	p.D410fs	STIM2_ENST00000465503.1_Frame_Shift_Del_p.D418fs|STIM2_ENST00000412829.2_Frame_Shift_Del_p.D497fs|STIM2_ENST00000467087.1_Frame_Shift_Del_p.D410fs|STIM2_ENST00000237364.5_Frame_Shift_Del_p.D497fs|STIM2_ENST00000382009.3_Frame_Shift_Del_p.D505fs	NM_001169117.1	NP_001162588	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	410					activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|positive regulation of calcium ion transport (GO:0051928)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|store-operated calcium channel activity (GO:0015279)	p.H498fs*13(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				ATGAGGTAGACCACAAAATTC	0.338																																					p.D410fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1230delC	4						.						68.0	66.0	67.0					4																	27010130		2203	4300	6503	26619228	SO:0001589	frameshift_variant	57620	exon9			AB040915	CCDS3440.1, CCDS3440.2, CCDS54751.1, CCDS54752.1	4p15.2	2013-01-10			ENSG00000109689	ENSG00000109689		"""Sterile alpha motif (SAM) domain containing"""	19205	protein-coding gene	gene with protein product		610841				11463338	Standard	NM_020860		Approved		uc003gsh.4	Q9P246	OTTHUMG00000097805	ENST00000467011.1:c.1230delC	4.37:g.27010130delC	ENSP00000419383:p.Asp410fs		26619228	NM_001169117	A6H8L7|B7ZVY0|Q96BF1|Q9BQH2|Q9H8R1	Frame_Shift_Del	DEL	ENST00000467011.1	37	CCDS54752.1																																																																																				0.338	STIM2-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000356861.1	NM_020860	
FRYL	285527	broad.mit.edu	37	4	48588727	48588727	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr4:48588727C>A	ENST00000503238.1	-	16	1658	c.1659G>T	c.(1657-1659)aaG>aaT	p.K553N	FRYL_ENST00000358350.4_Missense_Mutation_p.K553N|FRYL_ENST00000507711.1_Missense_Mutation_p.K553N|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000506685.1_Missense_Mutation_p.K259N|FRYL_ENST00000537810.1_Missense_Mutation_p.K553N			O94915	FRYL_HUMAN	FRY-like	553					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.K553N(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ACAAATCAATCTTGGGTTTTC	0.343																																					p.K553N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1659T	4						.						111.0	105.0	107.0					4																	48588727		1826	4079	5905	48283484	SO:0001583	missense	285527	exon19			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.1659G>T	4.37:g.48588727C>A	ENSP00000426064:p.Lys553Asn		48283484	NM_015030	O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.151937	0.57151	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711;ENST00000506685	T;T;T;T;T	0.61510	1.8;1.8;1.8;0.83;0.1	5.58	1.87	0.25490	Armadillo-type fold (1);	0.000000	0.85682	U	0.000000	T	0.69700	0.3140	M	0.79475	2.455	0.80722	D	1	D;D	0.76494	0.991;0.999	D;D	0.85130	0.987;0.997	T	0.65216	-0.6222	10	0.26408	T	0.33	.	7.4716	0.27353	0.0:0.4667:0.0:0.5333	.	553;553	F2Z2S2;O94915	.;FRYL_HUMAN	N	553;553;553;553;259	ENSP00000426064:K553N;ENSP00000351113:K553N;ENSP00000441114:K553N;ENSP00000421584:K553N;ENSP00000425592:K259N	ENSP00000351113:K553N	K	-	3	2	FRYL	48283484	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	1.992000	0.40737	0.394000	0.25230	-0.768000	0.03414	AAG		0.343	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2		
SEC24B	10427	broad.mit.edu	37	4	110442694	110442694	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr4:110442694G>A	ENST00000265175.5	+	14	2475	c.2420G>A	c.(2419-2421)cGt>cAt	p.R807H	SEC24B_ENST00000504968.2_Missense_Mutation_p.R837H|SEC24B_ENST00000399100.2_Missense_Mutation_p.R772H	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	807					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.R807H(1)|p.R772H(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		ACAGGTGGCCGTGTGTCTGTA	0.428																																					p.R807H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2420A	4						.						89.0	81.0	84.0					4																	110442694		1893	4117	6010	110662143	SO:0001583	missense	10427	exon14			AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.2420G>A	4.37:g.110442694G>A	ENSP00000265175:p.Arg807His		110662143	NM_006323	B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	ENST00000265175.5	37	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	G	35	5.488867	0.96323	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.79653	-1.29;-1.29;-1.29	5.91	5.91	0.95273	Sec23/Sec24, trunk domain (1);	0.000000	0.85682	D	0.000000	D	0.90817	0.7116	M	0.81341	2.54	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.91001	0.4842	10	0.87932	D	0	-18.4839	20.2985	0.98592	0.0:0.0:1.0:0.0	.	721;406;837;772;807	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	H	837;772;807	ENSP00000428564:R837H;ENSP00000382051:R772H;ENSP00000265175:R807H	ENSP00000265175:R807H	R	+	2	0	SEC24B	110662143	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.793000	0.96121	0.655000	0.94253	CGT		0.428	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2		
APC	324	broad.mit.edu	37	5	112174223	112174223	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr5:112174223C>T	ENST00000457016.1	+	16	3312	c.2932C>T	c.(2932-2934)Caa>Taa	p.Q978*	APC_ENST00000508376.2_Nonsense_Mutation_p.Q978*|APC_ENST00000257430.4_Nonsense_Mutation_p.Q978*|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	978	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.Q978*(3)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TAAAAGAGGTCAAATGAAACC	0.363		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.Q960X	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	.	.	4	Substitution - Nonsense(3)|Unknown(1)	large_intestine(3)|skin(1)	c.C2878T	5	GRCh37	CM995165	APC	M		.						79.0	74.0	76.0					5																	112174223		2202	4300	6502	112202122	SO:0001587	stop_gained	324	exon14	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.2932C>T	5.37:g.112174223C>T	ENSP00000413133:p.Gln978*		112202122	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	38	6.742256	0.97805	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.75	5.75	0.90469	.	0.049455	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-12.6895	19.94	0.97155	0.0:1.0:0.0:0.0	.	.	.	.	X	978;960;978;978;978	.	ENSP00000257430:Q978X	Q	+	1	0	APC	112202122	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	5.849000	0.69465	2.721000	0.93114	0.650000	0.86243	CAA		0.363	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	broad.mit.edu	37	5	112175399	112175399	+	Nonsense_Mutation	SNP	A	A	T	rs377860		TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr5:112175399A>T	ENST00000457016.1	+	16	4488	c.4108A>T	c.(4108-4110)Aaa>Taa	p.K1370*	APC_ENST00000508376.2_Nonsense_Mutation_p.K1370*|APC_ENST00000257430.4_Nonsense_Mutation_p.K1370*|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1370	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.K1370*(3)|p.K1192fs*3(1)|p.?(1)|p.P1372fs*2(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TCAGACACCCAAAAGTCCACC	0.453		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.K1352X	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	APC,large_intestine,NS,Substitution - Nonsense,0 	.	6	Substitution - Nonsense(3)|Deletion - Frameshift(2)|Unknown(1)	large_intestine(4)|soft_tissue(1)|skin(1)	c.A4054T	5	GRCh37	CM920054	APC	M	rs377860	.						79.0	76.0	77.0					5																	112175399		2202	4300	6502	112203298	SO:0001587	stop_gained	324	exon14	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4108A>T	5.37:g.112175399A>T	ENSP00000413133:p.Lys1370*		112203298	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	42	9.277036	0.99122	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-27.6547	16.4957	0.84242	1.0:0.0:0.0:0.0	.	.	.	.	X	1370	.	.	K	+	1	0	APC	112203298	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.027000	0.76463	2.371000	0.80710	0.533000	0.62120	AAA		0.453	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
MARCH3	115123	broad.mit.edu	37	5	126250631	126250631	+	Silent	SNP	C	C	T	rs78649550	byFrequency	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr5:126250631C>T	ENST00000308660.5	-	3	898	c.384G>A	c.(382-384)ccG>ccA	p.P128P	MARCH3_ENST00000515241.1_Silent_p.P128P|MARCH3_ENST00000502289.1_5'UTR	NM_178450.3	NP_848545.1	Q86UD3	MARH3_HUMAN	membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase	128					endocytosis (GO:0006897)|protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.P128P(1)		large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)		CCTCCACTAACGGCCTGGGTT	0.502													C|||	25	0.00499201	0.0	0.0	5008	,	,		17366	0.0248		0.0	False		,,,				2504	0.0				p.P128P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G384A	5						.						76.0	67.0	70.0					5																	126250631		2203	4300	6503	126278530	SO:0001819	synonymous_variant	115123	exon3			AF055007	CCDS4141.1	5q23.2	2013-01-09	2012-02-23		ENSG00000173926	ENSG00000173926		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	28728	protein-coding gene	gene with protein product		613333	"""membrane-associated ring finger (C3HC4) 3"""			14722266, 8619474	Standard	NM_178450		Approved	MGC48332, MARCH-III, RNF173	uc003kuf.4	Q86UD3	OTTHUMG00000128968	ENST00000308660.5:c.384G>A	5.37:g.126250631C>T			126278530	NM_178450	A8K264|B9EJE7	Silent	SNP	ENST00000308660.5	37	CCDS4141.1																																																																																				0.502	MARCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250955.2	NM_178450	
PCDHB3	56132	broad.mit.edu	37	5	140481862	140481862	+	Silent	SNP	C	C	T			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr5:140481862C>T	ENST00000231130.2	+	1	1629	c.1629C>T	c.(1627-1629)agC>agT	p.S543S	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	543	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S543S(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTTGAGCAGCGAGGCGCTGG	0.692																																					p.S543S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1629T	5						.						39.0	42.0	41.0					5																	140481862		2202	4296	6498	140462046	SO:0001819	synonymous_variant	56132	exon1			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1629C>T	5.37:g.140481862C>T			140462046	NM_018937	B2R8P2	Silent	SNP	ENST00000231130.2	37	CCDS4245.1																																																																																				0.692	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937	
PCDHGA1	56114	broad.mit.edu	37	5	140712483	140712483	+	Silent	SNP	C	C	T	rs553517087		TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr5:140712483C>T	ENST00000517417.1	+	1	2232	c.2232C>T	c.(2230-2232)gaC>gaT	p.D744D	PCDHGA1_ENST00000378105.3_Silent_p.D744D	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	744					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D744D(3)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCGTGGACGGGGTTCGGG	0.637																																					p.D744D												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C2232T	5						.						71.0	75.0	74.0					5																	140712483		2203	4300	6503	140692667	SO:0001819	synonymous_variant	56114	exon1			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.2232C>T	5.37:g.140712483C>T			140692667	NM_031993	Q2M273|Q9Y5D6	Silent	SNP	ENST00000517417.1	37	CCDS54922.1																																																																																				0.637	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912	
NSUN2	54888	broad.mit.edu	37	5	6611086	6611086	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr5:6611086G>A	ENST00000264670.6	-	11	1519	c.1208C>T	c.(1207-1209)gCc>gTc	p.A403V	NSUN2_ENST00000506139.1_Missense_Mutation_p.A368V|NSUN2_ENST00000539938.1_Missense_Mutation_p.A167V	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	403					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)	p.A403V(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						CAGGTGCATGGCCTGCAGCTT	0.607																																					p.A403V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1208T	5						.						115.0	96.0	103.0					5																	6611086		2203	4300	6503	6664086	SO:0001583	missense	54888	exon11			AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"""NOP2/Sun domain containing"""	25994	protein-coding gene	gene with protein product	"""tRNA methyltransferase 4 homolog (S. cerevisiae)"", ""Myc-induced SUN-domain-containing protein"""	610916	"""NOL1/NOP2/Sun domain family, member 2"", ""NOP2/Sun domain family, member 2"", ""mental retardation, non-syndromic, autosomal recessive, 5"""	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.1208C>T	5.37:g.6611086G>A	ENSP00000264670:p.Ala403Val		6664086	NM_017755	A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Missense_Mutation	SNP	ENST00000264670.6	37	CCDS3869.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.358246	0.24598	.	.	ENSG00000037474	ENST00000264670;ENST00000539938;ENST00000506139	T;T;T	0.22336	1.96;1.96;1.96	5.63	4.68	0.58851	Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p (1);	0.588028	0.20096	N	0.099339	T	0.21550	0.0519	L	0.35793	1.09	0.09310	N	1	B;B	0.33883	0.43;0.083	B;B	0.37198	0.243;0.219	T	0.11891	-1.0569	10	0.34782	T	0.22	-25.7549	17.3147	0.87220	0.0:0.0:0.8663:0.1337	.	368;403	B4DQW2;Q08J23	.;NSUN2_HUMAN	V	403;167;368	ENSP00000264670:A403V;ENSP00000444338:A167V;ENSP00000420957:A368V	ENSP00000264670:A403V	A	-	2	0	NSUN2	6664086	0.870000	0.30015	0.826000	0.32828	0.105000	0.19272	2.867000	0.48428	2.662000	0.90505	0.555000	0.69702	GCC		0.607	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755	
DAB2	1601	broad.mit.edu	37	5	39376137	39376137	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr5:39376137G>A	ENST00000320816.6	-	13	2676	c.2209C>T	c.(2209-2211)Cct>Tct	p.P737S	DAB2_ENST00000509337.1_Missense_Mutation_p.P716S|DAB2_ENST00000339788.6_Missense_Mutation_p.P519S|DAB2_ENST00000545653.1_Missense_Mutation_p.P716S	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	737	Required for interaction with MYO6. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)	p.P737S(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TTAAAGAAAGGGTTCTCAAAT	0.428																																					p.P737S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2209T	5						.						103.0	104.0	104.0					5																	39376137		2203	4300	6503	39411894	SO:0001583	missense	1601	exon13			U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.2209C>T	5.37:g.39376137G>A	ENSP00000313391:p.Pro737Ser		39411894	NM_001343	A6NES5|Q13598|Q9BTY0|Q9UK04	Missense_Mutation	SNP	ENST00000320816.6	37	CCDS34149.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052091	0.75960	.	.	ENSG00000153071	ENST00000320816;ENST00000339788;ENST00000545653;ENST00000509337	T;T;T;T	0.39229	1.09;1.15;1.12;1.12	5.76	5.76	0.90799	.	0.280036	0.41001	D	0.000975	T	0.44371	0.1290	L	0.39633	1.23	0.37415	D	0.913423	P;P	0.52061	0.9;0.95	B;P	0.45610	0.435;0.487	T	0.49103	-0.8974	10	0.54805	T	0.06	-12.5412	19.967	0.97274	0.0:0.0:1.0:0.0	.	737;716	P98082;P98082-3	DAB2_HUMAN;.	S	737;519;716;716	ENSP00000313391:P737S;ENSP00000345508:P519S;ENSP00000439919:P716S;ENSP00000426245:P716S	ENSP00000313391:P737S	P	-	1	0	DAB2	39411894	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.695000	0.54749	2.714000	0.92807	0.655000	0.94253	CCT		0.428	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343	
NR3C1	2908	broad.mit.edu	37	5	142779553	142779553	+	Silent	SNP	G	G	A			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr5:142779553G>A	ENST00000343796.2	-	2	1845	c.852C>T	c.(850-852)atC>atT	p.I284I	NR3C1_ENST00000231509.3_Silent_p.I284I|NR3C1_ENST00000394466.2_Silent_p.I284I|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000415690.2_Silent_p.I284I|NR3C1_ENST00000503201.1_Silent_p.I284I|NR3C1_ENST00000504572.1_Silent_p.I284I|NR3C1_ENST00000394464.2_Silent_p.I284I|NR3C1_ENST00000424646.2_Silent_p.I284I	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	284	Modulating.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|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 involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)	p.I284I(2)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	TGCAGAGTTCGATGAAATCTT	0.413																																					p.I284I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C852T	5						.						99.0	104.0	102.0					5																	142779553		2203	4300	6503	142759746	SO:0001819	synonymous_variant	2908	exon2			X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"""Nuclear hormone receptors"""	7978	protein-coding gene	gene with protein product		138040	"""nuclear receptor subfamily 3, group C, member 1"""	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.852C>T	5.37:g.142779553G>A			142759746	NM_001018074	A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Silent	SNP	ENST00000343796.2	37	CCDS4278.1																																																																																				0.413	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1		
HIST1H4E	8367	broad.mit.edu	37	6	26205148	26205148	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr6:26205148G>C	ENST00000360441.4	+	1	291	c.276G>C	c.(274-276)aaG>aaC	p.K92N		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	92					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.K92N(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				ACGCGCTGAAGAGACAGGGAC	0.537																																					p.K92N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G276C	6						.						128.0	111.0	117.0					6																	26205148		2203	4300	6503	26313127	SO:0001583	missense	8367	exon1			Z80787	CCDS4593.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198518	ENSG00000276966		"""Histones / Replication-dependent"""	4790	protein-coding gene	gene with protein product		602830	"""H4 histone family, member J"", ""histone 1, H4e"""	H4FJ		9119399, 12408966	Standard	NM_003545		Approved	H4/j	uc003ngy.3	P62805	OTTHUMG00000014441	ENST00000360441.4:c.276G>C	6.37:g.26205148G>C	ENSP00000353624:p.Lys92Asn		26313127	NM_003545	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000360441.4	37	CCDS4593.1	.	.	.	.	.	.	.	.	.	.	.	11.76	1.735568	0.30774	.	.	ENSG00000198518	ENST00000360441	T	0.69685	-0.42	2.2	-0.833	0.10782	.	0.000000	0.85682	U	0.000000	T	0.61198	0.2328	.	.	.	0.44834	D	0.997842	.	.	.	.	.	.	T	0.64968	-0.6282	7	0.87932	D	0	.	10.0883	0.42432	0.2703:0.0:0.7297:0.0	.	.	.	.	N	92	ENSP00000353624:K92N	ENSP00000353624:K92N	K	+	3	2	HIST1H4E	26313127	1.000000	0.71417	0.521000	0.27850	0.001000	0.01503	2.305000	0.43664	-0.639000	0.05502	-0.797000	0.03246	AAG		0.537	HIST1H4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040104.1	NM_003545	
MAPK14	1432	broad.mit.edu	37	6	36044345	36044345	+	Silent	SNP	C	C	T	rs201451587		TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr6:36044345C>T	ENST00000229794.4	+	8	1030	c.642C>T	c.(640-642)gcC>gcT	p.A214A	MAPK14_ENST00000310795.4_Silent_p.A214A|MAPK14_ENST00000468133.1_Silent_p.A137A|MAPK14_ENST00000229795.3_Silent_p.A214A	NM_139012.2|NM_139014.2	NP_620581.1|NP_620583.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	214	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cartilage condensation (GO:0001502)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to ionizing radiation (GO:0071479)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chemotaxis (GO:0006935)|chondrocyte differentiation (GO:0002062)|DNA damage checkpoint (GO:0000077)|fatty acid oxidation (GO:0019395)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoclast differentiation (GO:0030316)|p38MAPK cascade (GO:0038066)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to muramyl dipeptide (GO:0032495)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|signal transduction in response to DNA damage (GO:0042770)|skeletal muscle tissue development (GO:0007519)|stress-activated MAPK cascade (GO:0051403)|stress-induced premature senescence (GO:0090400)|striated muscle cell differentiation (GO:0051146)|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)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|MAP kinase kinase activity (GO:0004708)|NFAT protein binding (GO:0051525)|protein serine/threonine kinase activity (GO:0004674)	p.A214A(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						GCATAATGGCCGAGCTGTTGA	0.373																																					p.A214A	Pancreas(20;8 363 26997 32430 36377 43317 49243 50560 51947)|Colon(176;951 1093 20177 30266 32328 34418 35271 44052 51610)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C642T	6						.						186.0	169.0	174.0					6																	36044345		2203	4300	6503	36152323	SO:0001819	synonymous_variant	1432	exon8			L35263	CCDS4815.1, CCDS4816.1, CCDS4817.1	6p21.3-p21.2	2011-06-09			ENSG00000112062	ENSG00000112062		"""Mitogen-activated protein kinase cascade / Kinases"""	6876	protein-coding gene	gene with protein product	"""p38 MAP kinase"""	600289		CSPB1, CSBP1, CSBP2		7997261	Standard	NM_139012		Approved	PRKM14, p38, Mxi2, PRKM15	uc003olq.3	Q16539	OTTHUMG00000159806	ENST00000229794.4:c.642C>T	6.37:g.36044345C>T			36152323	NM_001315	A6ZJ92|A8K6P4|B0LPH0|B5TY32|O60776|Q13083|Q14084|Q8TDX0	Silent	SNP	ENST00000229794.4	37	CCDS4816.1																																																																																				0.373	MAPK14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357450.1	NM_001315	
MDGA1	266727	broad.mit.edu	37	6	37623544	37623544	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr6:37623544G>C	ENST00000434837.3	-	4	1689	c.511C>G	c.(511-513)Cgg>Ggg	p.R171G	MDGA1_ENST00000297153.7_Missense_Mutation_p.R171G|MDGA1_ENST00000505425.1_Missense_Mutation_p.R171G	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	171	Ig-like 2.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						TCGGAACCCCGCTTCCAGATG	0.592																																					p.R171G												.	.	0			c.C511G	6						.						47.0	51.0	49.0					6																	37623544		1936	4122	6058	37731522	SO:0001583	missense	266727	exon4			AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.511C>G	6.37:g.37623544G>C	ENSP00000402584:p.Arg171Gly		37731522	NM_153487	A6NHG0|Q8NBE3	Missense_Mutation	SNP	ENST00000434837.3	37	CCDS47417.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.137989	0.77775	.	.	ENSG00000112139	ENST00000434837;ENST00000297153;ENST00000505425;ENST00000515437	T;T;T;T	0.13196	2.61;2.61;2.61;2.61	5.5	4.58	0.56647	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.46442	D	0.000291	T	0.29458	0.0734	M	0.79258	2.445	0.58432	D	0.999998	D	0.71674	0.998	D	0.70716	0.97	T	0.01349	-1.1378	10	0.54805	T	0.06	.	15.3658	0.74519	0.0:0.0:0.8607:0.1393	.	171	Q8NFP4	MDGA1_HUMAN	G	171;171;171;115	ENSP00000402584:R171G;ENSP00000297153:R171G;ENSP00000422042:R171G;ENSP00000421510:R115G	ENSP00000297153:R171G	R	-	1	2	MDGA1	37731522	1.000000	0.71417	1.000000	0.80357	0.531000	0.34715	5.615000	0.67702	2.749000	0.94314	0.655000	0.94253	CGG		0.592	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3		
TBX18	9096	broad.mit.edu	37	6	85448257	85448257	+	Missense_Mutation	SNP	G	G	A	rs571410094		TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr6:85448257G>A	ENST00000369663.5	-	7	1394	c.1057C>T	c.(1057-1059)Cgg>Tgg	p.R353W	TBX18_ENST00000606784.1_Missense_Mutation_p.R195W	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	353					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.R353W(2)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GTCAGAGTCCGTAGTGATGGT	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		19793	0.001		0.0	False		,,,				2504	0.0				p.R353W												.	.	2	Substitution - Missense(2)	large_intestine(1)|prostate(1)	c.C1057T	6						.						218.0	204.0	209.0					6																	85448257		2203	4300	6503	85504976	SO:0001583	missense	9096	exon7			AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1057C>T	6.37:g.85448257G>A	ENSP00000358677:p.Arg353Trp		85504976	NM_001080508	A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409287	0.62399	.	.	ENSG00000112837	ENST00000416980;ENST00000369663	D	0.89343	-2.5	5.54	3.61	0.41365	.	0.000000	0.85682	D	0.000000	D	0.88514	0.6457	L	0.34521	1.04	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.969;0.999	D	0.90421	0.4417	10	0.87932	D	0	.	13.4672	0.61260	0.0:0.0:0.5625:0.4375	.	269;353	Q8IW86;O95935	.;TBX18_HUMAN	W	268;353	ENSP00000358677:R353W	ENSP00000358677:R353W	R	-	1	2	TBX18	85504976	0.987000	0.35691	0.934000	0.37439	0.548000	0.35241	1.935000	0.40173	1.427000	0.47276	0.650000	0.86243	CGG		0.468	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508	
MDN1	23195	broad.mit.edu	37	6	90461283	90461283	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr6:90461283C>G	ENST00000369393.3	-	23	3209	c.3094G>C	c.(3094-3096)Gga>Cga	p.G1032R	MDN1_ENST00000428876.1_Missense_Mutation_p.G1032R			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1032					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.G1032R(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGCCGACCTCCTTTTGGCTCT	0.453																																					p.G1032R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3094C	6						.						106.0	94.0	98.0					6																	90461283		2203	4300	6503	90518004	SO:0001583	missense	23195	exon23			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.3094G>C	6.37:g.90461283C>G	ENSP00000358400:p.Gly1032Arg		90518004	NM_014611	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.495323	0.44352	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.19532	3.84;3.84;2.14	5.71	5.71	0.89125	.	0.058747	0.64402	D	0.000002	T	0.33411	0.0862	M	0.85630	2.765	0.49915	D	0.999838	D;D	0.54601	0.964;0.967	P;P	0.49301	0.531;0.606	T	0.28744	-1.0034	10	0.52906	T	0.07	.	19.8625	0.96789	0.0:1.0:0.0:0.0	.	959;1032	Q5T795;Q9NU22	.;MDN1_HUMAN	R	1032;1032;959	ENSP00000358400:G1032R;ENSP00000413970:G1032R;ENSP00000409664:G959R	ENSP00000358400:G1032R	G	-	1	0	MDN1	90518004	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	2.270000	0.43355	2.689000	0.91719	0.655000	0.94253	GGA		0.453	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2		
DGKB	1607	broad.mit.edu	37	7	14622703	14622703	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr7:14622703G>T	ENST00000403951.2	-	18	1915	c.1496C>A	c.(1495-1497)aCc>aAc	p.T499N	DGKB_ENST00000406247.3_Missense_Mutation_p.T499N|DGKB_ENST00000258767.5_Missense_Mutation_p.T499N|DGKB_ENST00000407950.1_Missense_Mutation_p.T491N|DGKB_ENST00000402815.1_Missense_Mutation_p.T498N|DGKB_ENST00000399322.3_Missense_Mutation_p.T499N|DGKB_ENST00000444700.2_Missense_Mutation_p.T480N|DGKB_ENST00000403963.1_5'UTR			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	499	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.T499N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						CCAGCCCACGGTTCCATCTCC	0.398																																					p.T499N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1496A	7						.						75.0	76.0	75.0					7																	14622703		2035	4222	6257	14589228	SO:0001583	missense	1607	exon17			AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.1496C>A	7.37:g.14622703G>T	ENSP00000385780:p.Thr499Asn		14589228	NM_145695	A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.011865	0.93346	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	5.44	5.44	0.79542	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.88168	0.6364	H	0.98833	4.345	0.80722	D	1	D;D;D;D	0.71674	0.996;0.998;0.998;0.995	D;D;D;P	0.70487	0.938;0.969;0.969;0.89	D	0.92955	0.6384	10	0.87932	D	0	.	19.2574	0.93951	0.0:0.0:1.0:0.0	.	498;480;499;499	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	N	499;499;499;498;491;480;499	ENSP00000385780:T499N;ENSP00000382260:T499N;ENSP00000258767:T499N;ENSP00000384909:T498N;ENSP00000385031:T491N;ENSP00000388451:T480N;ENSP00000386066:T499N	ENSP00000258767:T499N	T	-	2	0	DGKB	14589228	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.796000	0.99103	2.545000	0.85829	0.591000	0.81541	ACC		0.398	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080	
KLHL7	55975	broad.mit.edu	37	7	23207602	23207602	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr7:23207602A>G	ENST00000339077.5	+	9	1568	c.1325A>G	c.(1324-1326)aAt>aGt	p.N442S	KLHL7_ENST00000539124.1_Missense_Mutation_p.N366S|KLHL7_ENST00000545443.1_Missense_Mutation_p.N420S|KLHL7_ENST00000542558.1_Missense_Mutation_p.N217S|KLHL7_ENST00000409689.1_Missense_Mutation_p.N394S|KLHL7_ENST00000322231.7_Missense_Mutation_p.N420S	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	442					protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.N420S(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTAGGAAACAATGTTTCTGGG	0.418																																					p.N442S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1325G	7						.						151.0	146.0	148.0					7																	23207602		2203	4300	6503	23174127	SO:0001583	missense	55975	exon9				CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.1325A>G	7.37:g.23207602A>G	ENSP00000343273:p.Asn442Ser		23174127	NM_001031710	A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	ENST00000339077.5	37	CCDS34609.1	.	.	.	.	.	.	.	.	.	.	A	10.82	1.458096	0.26161	.	.	ENSG00000122550	ENST00000538858;ENST00000322231;ENST00000339077;ENST00000539124;ENST00000542558;ENST00000409689;ENST00000545443	T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	5.69	5.69	0.88448	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.41465	0.1160	N	0.01048	-1.04	0.58432	D	0.999997	P;B	0.41214	0.742;0.034	P;B	0.50708	0.648;0.004	T	0.52975	-0.8503	10	0.02654	T	1	.	15.9494	0.79820	1.0:0.0:0.0:0.0	.	442;420	Q8IXQ5;Q8IXQ5-2	KLHL7_HUMAN;.	S	283;420;442;366;217;394;420	ENSP00000322958:N420S;ENSP00000343273:N442S;ENSP00000441136:N366S;ENSP00000442367:N217S;ENSP00000386263:N394S;ENSP00000442366:N420S	ENSP00000322958:N420S	N	+	2	0	KLHL7	23174127	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	2.167000	0.68274	0.482000	0.46254	AAT		0.418	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846	
GHRHR	2692	broad.mit.edu	37	7	31009516	31009516	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr7:31009516G>C	ENST00000326139.2	+	4	349	c.303G>C	c.(301-303)tgG>tgC	p.W101C	GHRHR_ENST00000409904.3_Missense_Mutation_p.W37C|GHRHR_ENST00000409316.1_5'UTR	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	101					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)	p.W101C(1)		biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	TCACTGGCTGGTCTGAGCCCT	0.602																																					p.W101C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G303C	7						.						174.0	139.0	151.0					7																	31009516		2203	4300	6503	30976041	SO:0001583	missense	2692	exon4				CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"""GPCR / Class B : Glucagon receptors"""	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.303G>C	7.37:g.31009516G>C	ENSP00000320180:p.Trp101Cys		30976041	NM_000823	Q99863	Missense_Mutation	SNP	ENST00000326139.2	37	CCDS5432.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062808	0.55432	.	.	ENSG00000106128	ENST00000326139;ENST00000409904;ENST00000409233;ENST00000337750	D;T;D	0.84516	-1.86;0.71;-1.78	4.17	4.17	0.49024	GPCR, family 2, extracellular hormone receptor domain (3);	.	.	.	.	D	0.94228	0.8147	H	0.96489	3.83	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.95224	0.8336	9	0.87932	D	0	.	12.1775	0.54194	0.0:0.0:1.0:0.0	.	37;101;37	Q9HB45;Q02643;Q9HB44	.;GHRHR_HUMAN;.	C	101;37;37;37	ENSP00000320180:W101C;ENSP00000387113:W37C;ENSP00000338184:W37C	ENSP00000320180:W101C	W	+	3	0	GHRHR	30976041	1.000000	0.71417	0.998000	0.56505	0.624000	0.37722	7.686000	0.84128	2.326000	0.78906	0.462000	0.41574	TGG		0.602	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327967.2		
ELMO1	9844	broad.mit.edu	37	7	37172737	37172737	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr7:37172737G>A	ENST00000310758.4	-	14	1836	c.1189C>T	c.(1189-1191)Cgg>Tgg	p.R397W	ELMO1_ENST00000341056.3_Missense_Mutation_p.R99W|ELMO1_ENST00000442504.1_Missense_Mutation_p.R397W|ELMO1_ENST00000448602.1_Missense_Mutation_p.R397W	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	397	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)	p.R397W(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TTGCTTACCCGGATGTAGGCA	0.473																																					p.R397W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1189T	7						.						137.0	117.0	124.0					7																	37172737		2203	4300	6503	37139262	SO:0001583	missense	9844	exon14			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1189C>T	7.37:g.37172737G>A	ENSP00000312185:p.Arg397Trp		37139262	NM_014800	A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.046351	0.75846	.	.	ENSG00000155849	ENST00000341056;ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	5.27	5.27	0.74061	Engulfment/cell motility, ELMO (2);	0.000000	0.85682	D	0.000000	T	0.57066	0.2028	M	0.68317	2.08	0.58432	D	0.999999	D	0.89917	1.0	D	0.77004	0.989	T	0.59257	-0.7488	10	0.87932	D	0	.	13.0721	0.59068	0.0:0.0:0.8391:0.1609	.	397	Q92556	ELMO1_HUMAN	W	99;397;301;397;397	ENSP00000342142:R99W;ENSP00000312185:R397W;ENSP00000406952:R397W;ENSP00000394458:R397W	ENSP00000312185:R397W	R	-	1	2	ELMO1	37139262	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	5.055000	0.64282	2.650000	0.89964	0.655000	0.94253	CGG		0.473	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442	
PARP12	64761	broad.mit.edu	37	7	139756918	139756918	+	Silent	SNP	G	G	A			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr7:139756918G>A	ENST00000263549.3	-	3	1371	c.498C>T	c.(496-498)caC>caT	p.H166H		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	166						nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)	p.H166H(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					CACAAGAGCCGTGGGGTCCAT	0.483																																					p.H166H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C498T	7						.						94.0	102.0	99.0					7																	139756918		2203	4300	6503	139403387	SO:0001819	synonymous_variant	64761	exon3			AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	21919	protein-coding gene	gene with protein product		612481	"""zinc finger CCCH-type domain containing 1"""	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.498C>T	7.37:g.139756918G>A			139403387	NM_022750	Q9H610|Q9NP36|Q9NTI3	De_novo_Start_OutOfFrame	SNP	ENST00000263549.3	37	CCDS5857.1																																																																																				0.483	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	NM_022750	
RP1	6101	broad.mit.edu	37	8	55533957	55533957	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr8:55533957T>C	ENST00000220676.1	+	2	579	c.431T>C	c.(430-432)gTc>gCc	p.V144A		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	144					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.V144A(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCCGTAGCCGTCGCTGCTCCC	0.697																																					p.V144A	Colon(91;1014 1389 7634 14542 40420)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T431C	8						.						32.0	37.0	36.0					8																	55533957		2202	4299	6501	55696510	SO:0001583	missense	6101	exon2			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.431T>C	8.37:g.55533957T>C	ENSP00000220676:p.Val144Ala		55696510	NM_006269		Missense_Mutation	SNP	ENST00000220676.1	37	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	T	3.081	-0.189076	0.06299	.	.	ENSG00000104237	ENST00000220676	T	0.20598	2.06	4.67	2.39	0.29439	.	1.717000	0.03092	N	0.159907	T	0.04497	0.0123	N	0.00197	-1.87	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46317	-0.9200	10	0.05525	T	0.97	2.7566	4.5728	0.12217	0.0:0.5637:0.2824:0.1539	.	144	P56715	RP1_HUMAN	A	144	ENSP00000220676:V144A	ENSP00000220676:V144A	V	+	2	0	RP1	55696510	0.000000	0.05858	0.003000	0.11579	0.019000	0.09904	0.331000	0.19733	0.921000	0.36994	-0.417000	0.06048	GTC		0.697	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269	
RP1	6101	broad.mit.edu	37	8	55541712	55541712	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr8:55541712C>T	ENST00000220676.1	+	4	5418	c.5270C>T	c.(5269-5271)tCa>tTa	p.S1757L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1757					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.S1757L(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CTAAGGATGTCATCTGAAAAT	0.398																																					p.S1757L	Colon(91;1014 1389 7634 14542 40420)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5270T	8						.						95.0	91.0	93.0					8																	55541712		2203	4300	6503	55704265	SO:0001583	missense	6101	exon4			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.5270C>T	8.37:g.55541712C>T	ENSP00000220676:p.Ser1757Leu		55704265	NM_006269		Missense_Mutation	SNP	ENST00000220676.1	37	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.684330	0.88639	.	.	ENSG00000104237	ENST00000220676	T	0.64438	-0.1	5.93	5.93	0.95920	.	0.000000	0.42172	D	0.000743	T	0.80829	0.4698	M	0.74258	2.255	0.53005	D	0.999969	D	0.89917	1.0	D	0.91635	0.999	T	0.81339	-0.0977	10	0.87932	D	0	.	20.3368	0.98748	0.0:1.0:0.0:0.0	.	1757	P56715	RP1_HUMAN	L	1757	ENSP00000220676:S1757L	ENSP00000220676:S1757L	S	+	2	0	RP1	55704265	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.487000	0.81328	2.805000	0.96524	0.655000	0.94253	TCA		0.398	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269	
RNF20	56254	broad.mit.edu	37	9	104314839	104314839	+	Nonsense_Mutation	SNP	C	C	T	rs535787053		TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr9:104314839C>T	ENST00000389120.3	+	13	1795	c.1705C>T	c.(1705-1707)Cga>Tga	p.R569*	AL591377.1_ENST00000584534.1_RNA	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	569					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R569*(2)		breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		Tgaagaagaacgagaacgaga	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		21073	0.001		0.0	False		,,,				2504	0.0				p.R569X												.	.	2	Substitution - Nonsense(2)	large_intestine(1)|endometrium(1)	c.C1705T	9						.						82.0	94.0	90.0					9																	104314839		2203	4300	6503	103354660	SO:0001587	stop_gained	56254	exon13			AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.1705C>T	9.37:g.104314839C>T	ENSP00000373772:p.Arg569*		103354660	NM_019592	A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Nonsense_Mutation	SNP	ENST00000389120.3	37	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	C	39	7.493618	0.98319	.	.	ENSG00000155827	ENST00000389120	.	.	.	6.17	5.26	0.73747	.	0.610133	0.17736	N	0.163731	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-9.0127	11.7199	0.51677	0.143:0.7274:0.1296:0.0	.	.	.	.	X	569	.	ENSP00000373772:R569X	R	+	1	2	RNF20	103354660	0.960000	0.32886	1.000000	0.80357	0.914000	0.54420	1.366000	0.34193	1.564000	0.49628	0.655000	0.94253	CGA		0.468	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592	
RPL12	6136	broad.mit.edu	37	9	130213588	130213588	+	Silent	SNP	C	C	A	rs369070033	byFrequency	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chr9:130213588C>A	ENST00000361436.5	-	1	96	c.9G>T	c.(7-9)ccG>ccT	p.P3P	LRSAM1_ENST00000373324.4_5'Flank|LRSAM1_ENST00000373322.1_5'Flank|SNORA65_ENST00000364432.1_RNA|LRSAM1_ENST00000300417.6_5'Flank|RPL12_ENST00000536368.1_Silent_p.P3P|RPL12_ENST00000497322.1_5'UTR|LRSAM1_ENST00000323301.4_5'Flank	NM_000976.3	NP_000967.1	P30050	RL12_HUMAN	ribosomal protein L12	3					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.P3P(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	4						GGTCGAACTTCGGCGGCATGG	0.657																																					p.P3P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G9T	9						.						32.0	35.0	34.0					9																	130213588		2199	4296	6495	129253409	SO:0001819	synonymous_variant	6136	exon1				CCDS6872.1	9q34	2011-04-06			ENSG00000197958	ENSG00000197958		"""L ribosomal proteins"""	10302	protein-coding gene	gene with protein product		180475				8441690	Standard	NM_000976		Approved	L12	uc004bqy.2	P30050	OTTHUMG00000020704	ENST00000361436.5:c.9G>T	9.37:g.130213588C>A			129253409	NM_000976	Q5VVV2|Q6PB27	Silent	SNP	ENST00000361436.5	37	CCDS6872.1																																																																																				0.657	RPL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054189.1		
PLXNA3	55558	broad.mit.edu	37	X	153688564	153688565	+	Frame_Shift_Ins	INS	-	-	G	rs375310385		TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	-	-	-	-	-	-	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chrX:153688564_153688565insG	ENST00000369682.3	+	2	216_217	c.41_42insG	c.(40-45)gtggggfs	p.VG14fs		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	14					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)	p.A17fs*39(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTCCTTGCCGTGGGGGGGGCCC	0.683																																					p.V14fs												.	.	1	Insertion - Frameshift(1)	ovary(1)	c.41_42insG	X						.																																			153341759	SO:0001589	frameshift_variant	55558	exon2			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.49dupG	X.37:g.153688572_153688572dupG	ENSP00000358696:p.Val14fs		153341758	NM_017514	Q5HY36	Frame_Shift_Ins	INS	ENST00000369682.3	37	CCDS14752.1																																																																																				0.683	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514	
CSF2RA	1438	broad.mit.edu	37	X	1428408	1428408	+	3'UTR	SNP	G	G	A			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chrX:1428408G>A	ENST00000381524.3	+	0	1425				CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000417535.2_3'UTR|CSF2RA_ENST00000432318.2_3'UTR|CSF2RA_ENST00000361536.3_3'UTR|CSF2RA_ENST00000381529.3_3'UTR|CSF2RA_ENST00000355805.2_3'UTR|CSF2RA_ENST00000355432.3_Missense_Mutation_p.A354T|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381500.1_3'UTR|CSF2RA_ENST00000501036.2_3'UTR			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)						response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.A354T(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GGACATCTCCGCCTCCGCGAC	0.483													g|||	1	0.000199681	0.0008	0.0	5008	,	,		20650	0.0		0.0	False		,,,				2504	0.0				p.A354T	Esophageal Squamous(131;723 1707 25334 40494 41806)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1060A	X						.	G	,,,,,THR/ALA,,	1,4405		0,1,2202	256.0	238.0	244.0		,,,,,1060,,	-1.4	0.0	X	dbSNP_134	244	0,8592		0,0,4296	no	utr-3,utr-3,utr-3,utr-3,utr-3,missense,utr-3,utr-3	CSF2RA	NM_001161529.1,NM_001161530.1,NM_001161532.1,NM_006140.4,NM_172245.2,NM_172246.2,NM_172247.2,NM_172249.2	,,,,,58,,	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	,,,,,,,	,,,,,354/378,,	1428408	1,12997	2203	4296	6499	1388408	SO:0001624	3_prime_UTR_variant	1438	exon11			M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.*36G>A	X.37:g.1428408G>A			1388408	NM_172246	A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	ENST00000381524.3	37	CCDS35191.1	.	.	.	.	.	.	.	.	.	.	.	10.53	1.375564	0.24857	2.27E-4	0.0	ENSG00000198223	ENST00000355432	T	0.43688	0.94	0.69	-1.38	0.09027	.	.	.	.	.	T	0.24314	0.0589	.	.	.	0.09310	N	1	B	0.27117	0.168	B	0.08055	0.003	T	0.13335	-1.0513	7	0.87932	D	0	.	.	.	.	.	355	P15509-5	.	T	354	ENSP00000347606:A354T	ENSP00000347606:A354T	A	+	1	0	CSF2RA	1388408	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-1.397000	0.02511	-1.238000	0.02535	0.110000	0.15639	GCC		0.483	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2		
MAGIX	79917	broad.mit.edu	37	X	49021372	49021372	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chrX:49021372C>G	ENST00000412696.2	+	4	451	c.451C>G	c.(451-453)Ctg>Gtg	p.L151V	MAGIX_ENST00000376339.1_Missense_Mutation_p.L92V|MAGIX_ENST00000376338.3_Missense_Mutation_p.L92V|MAGIX_ENST00000425661.2_Intron|MAGIX_ENST00000498742.1_3'UTR	NM_024859.2	NP_079135.3	Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked	151	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.							p.L151V(1)									GGACACTCCGCTGGCCGTGCG	0.637																																					p.L84V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C250G	X						.						43.0	47.0	45.0					X																	49021372		2039	4152	6191	48908316	SO:0001583	missense	79917	exon2			AK025340	CCDS48106.1, CCDS48107.1, CCDS75976.1	Xp11.23	2014-05-06			ENSG00000017621	ENSG00000269313			30006	protein-coding gene	gene with protein product							Standard	XM_005278065		Approved	PDZX, JM10, FLJ21687	uc010nin.1	Q9H6Y5	OTTHUMG00000188218	ENST00000412696.2:c.451C>G	X.37:g.49021372C>G	ENSP00000387928:p.Leu151Val		48908316	NM_001099680	A6XND4|A8MSX9|B7WP26|Q14C81	Missense_Mutation	SNP	ENST00000412696.2	37	CCDS48106.1	.	.	.	.	.	.	.	.	.	.	.	13.95	2.388803	0.42308	.	.	ENSG00000017621	ENST00000376339;ENST00000412696;ENST00000376338;ENST00000425285	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	4.04	2.17	0.27698	PDZ/DHR/GLGF (4);	0.242826	0.21508	N	0.073411	T	0.36552	0.0971	L	0.46157	1.445	0.09310	N	1	D;D;D	0.76494	0.999;0.996;0.996	D;D;D	0.87578	0.998;0.994;0.994	T	0.09037	-1.0693	10	0.87932	D	0	-11.7222	4.2666	0.10766	0.0:0.631:0.2336:0.1354	.	151;92;92	Q9H6Y5;Q9H6Y5-3;Q9H6Y5-2	MAGIX_HUMAN;.;.	V	92;151;92;97	ENSP00000365517:L92V;ENSP00000387928:L151V;ENSP00000365516:L92V;ENSP00000411713:L97V	ENSP00000365516:L92V	L	+	1	2	MAGIX	48908316	0.120000	0.22244	0.004000	0.12327	0.010000	0.07245	0.246000	0.18160	0.448000	0.26722	0.529000	0.55759	CTG		0.637	MAGIX-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378832.1	NM_024859	
PCDH11X	27328	broad.mit.edu	37	X	91131801	91131801	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3685-01A-02W-0900-09	TCGA-AA-3685-10A-01W-0900-09	g.chrX:91131801G>A	ENST00000373094.1	+	2	1407	c.562G>A	c.(562-564)Gat>Aat	p.D188N	PCDH11X_ENST00000361655.2_Missense_Mutation_p.D188N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.D188N|PCDH11X_ENST00000504220.2_Missense_Mutation_p.D188N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.D188N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.D188N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.D188N|PCDH11X_ENST00000395337.2_Missense_Mutation_p.D188N|PCDH11X_ENST00000361724.1_Missense_Mutation_p.D188N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	188	Cadherin 2. {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)	p.D188N(2)		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						TTTTGGCCTCGATGTCATTGA	0.303																																					p.D188N	NSCLC(38;925 1092 2571 38200 45895)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G562A	X						.						49.0	44.0	46.0					X																	91131801		2201	4279	6480	91018457	SO:0001583	missense	27328	exon2			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.562G>A	X.37:g.91131801G>A	ENSP00000362186:p.Asp188Asn		91018457	NM_032968	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	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.844957	0.32606	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13;2.13;2.13;2.13;2.13	4.69	3.83	0.44106	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.36220	0.0959	L	0.43923	1.385	0.44531	D	0.997489	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.999;0.994;0.999;0.999;0.999;1.0;0.999;0.999	T	0.05354	-1.0890	10	0.66056	D	0.02	.	11.2212	0.48855	0.0919:0.0:0.9081:0.0	.	188;188;188;188;188;188;188;188	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	N	188	ENSP00000378746:D188N;ENSP00000362186:D188N;ENSP00000362189:D188N;ENSP00000355040:D188N;ENSP00000362180:D188N;ENSP00000423762:D188N;ENSP00000355105:D188N;ENSP00000384758:D188N;ENSP00000298274:D188N	ENSP00000298274:D188N	D	+	1	0	PCDH11X	91018457	1.000000	0.71417	0.713000	0.30519	0.015000	0.08874	7.716000	0.84723	0.770000	0.33336	-0.296000	0.09543	GAT		0.303	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969	
