#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CASZ1	54897	broad.mit.edu	37	1	10725438	10725438	+	Silent	SNP	A	A	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:10725438A>T	ENST00000377022.3	-	5	524	c.207T>A	c.(205-207)ccT>ccA	p.P69P	CASZ1_ENST00000344008.5_Silent_p.P69P|CASZ1_ENST00000478728.2_5'UTR	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	69					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CCCCAGACTCAGGGCCACTGC	0.697																																						uc001aro.2		NA																	0				skin(1)	1						c.(205-207)CCT>CCA		castor homolog 1, zinc finger isoform a							35.0	43.0	40.0					1																	10725438		2100	4195	6295	SO:0001819	synonymous_variant	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10725438A>T	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.207T>A	1.37:g.10725438A>T						CASZ1_uc001arp.1_Silent_p.P69P|CASZ1_uc009vmx.2_Silent_p.P93P	p.P69P	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	5	527	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	69					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP	ENST00000377022.3	37	c.207T>A	CCDS41246.1																																																																																				0.697	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		16	62	0	0	0	0	16	62				
PIK3R3	8503	broad.mit.edu	37	1	46543232	46543232	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:46543232C>T	ENST00000262741.5	-	3	958	c.269G>A	c.(268-270)cGa>cAa	p.R90Q	PIK3R3_ENST00000340332.6_Missense_Mutation_p.R54Q|PIK3R3_ENST00000354242.4_Missense_Mutation_p.R90Q|PIK3R3_ENST00000540385.1_Missense_Mutation_p.R136Q|PIK3R3_ENST00000423209.1_Missense_Mutation_p.R90Q|PIK3R3_ENST00000372006.1_Missense_Mutation_p.R90Q|PIK3R3_ENST00000420542.1_Missense_Mutation_p.R90Q	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	90	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	TGAGGCATCTCGGACCAAGAA	0.393																																						uc001cpb.3		NA																	0					0						c.(268-270)CGA>CAA		phosphoinositide-3-kinase, regulatory subunit 3							130.0	129.0	129.0					1																	46543232		2203	4300	6503	SO:0001583	missense	8503				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding	g.chr1:46543232C>T	BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"""SH2 domain containing"""	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.269G>A	1.37:g.46543232C>T	ENSP00000262741:p.Arg90Gln					PIK3R3_uc009vyb.2_Missense_Mutation_p.R90Q|PIK3R3_uc009vyc.2_Missense_Mutation_p.R107Q|PIK3R3_uc001cpc.3_Missense_Mutation_p.R90Q|PIK3R3_uc010olw.1_Missense_Mutation_p.R136Q	p.R90Q	NM_003629	NP_003620	Q92569	P55G_HUMAN			3	1025	-	Acute lymphoblastic leukemia(166;0.155)		90			SH2 1.		B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Missense_Mutation	SNP	ENST00000262741.5	37	c.269G>A	CCDS529.1	.	.	.	.	.	.	.	.	.	.	C	35	5.551435	0.96501	.	.	ENSG00000117461	ENST00000372006;ENST00000262741;ENST00000420542;ENST00000354242;ENST00000340332;ENST00000540385;ENST00000423209;ENST00000425892	D;D;D;D;D;D;D;D	0.99287	-5.69;-5.69;-5.69;-5.69;-5.69;-5.69;-5.69;-5.69	4.95	4.95	0.65309	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.99778	0.9908	H	0.99877	4.88	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.996;0.995;0.997	D	0.96543	0.9402	10	0.87932	D	0	-9.2351	18.1326	0.89606	0.0:1.0:0.0:0.0	.	136;123;90;90	F6TDL0;Q7Z3W2;Q92569-2;Q92569	.;.;.;P55G_HUMAN	Q	90;90;90;90;54;136;90;90	ENSP00000361075:R90Q;ENSP00000262741:R90Q;ENSP00000412546:R90Q;ENSP00000346188:R90Q;ENSP00000342484:R54Q;ENSP00000439913:R136Q;ENSP00000391431:R90Q;ENSP00000416647:R90Q	ENSP00000262741:R90Q	R	-	2	0	PIK3R3	46315819	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.633000	0.83260	2.467000	0.83353	0.563000	0.77884	CGA		0.393	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022171.1	NM_003629		25	97	0	0	0	0	25	97				
CYP4A11	1579	broad.mit.edu	37	1	47399867	47399867	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:47399867C>T	ENST00000310638.4	-	8	1100	c.1069G>A	c.(1069-1071)Gat>Aat	p.D357N	CYP4A11_ENST00000457840.2_3'UTR|CYP4A11_ENST00000462347.1_Intron|CYP4A11_ENST00000496519.1_5'UTR|CYP4A11_ENST00000371904.4_Missense_Mutation_p.D358N|CYP4A11_ENST00000371905.1_Missense_Mutation_p.D357N	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	357					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	GAGGCTCCATCACCCAGGAGG	0.622																																						uc001cqp.3		NA																	0				ovary(2)|skin(2)	4						c.(1069-1071)GAT>AAT		cytochrome P450, family 4, subfamily A,	NADH(DB00157)						50.0	52.0	51.0					1																	47399867		2203	4300	6503	SO:0001583	missense	1579				long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47399867C>T	L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"""Cytochrome P450s"""	2642	protein-coding gene	gene with protein product		601310	"""cytochrome P450, subfamily IVA, polypeptide 11"""	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.1069G>A	1.37:g.47399867C>T	ENSP00000311095:p.Asp357Asn					CYP4A11_uc001cqq.2_Missense_Mutation_p.D357N|CYP4A11_uc010omm.1_RNA	p.D357N	NM_000778	NP_000769	Q02928	CP4AB_HUMAN			8	1120	-			357					Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	ENST00000310638.4	37	c.1069G>A	CCDS543.1	.	.	.	.	.	.	.	.	.	.	g	15.85	2.955005	0.53293	.	.	ENSG00000187048	ENST00000310638;ENST00000371904;ENST00000371905	T;T;T	0.70164	-0.46;-0.46;-0.46	5.23	4.32	0.51571	.	0.103999	0.64402	D	0.000003	T	0.60340	0.2261	L	0.42529	1.33	0.80722	D	1	B	0.20550	0.046	B	0.33690	0.168	T	0.59375	-0.7466	10	0.52906	T	0.07	.	8.3544	0.32321	0.0:0.7247:0.1298:0.1455	.	357	Q02928	CP4AB_HUMAN	N	357;358;357	ENSP00000311095:D357N;ENSP00000360971:D358N;ENSP00000360972:D357N	ENSP00000311095:D357N	D	-	1	0	CYP4A11	47172454	0.096000	0.21769	0.995000	0.50966	0.836000	0.47400	2.865000	0.48412	1.342000	0.45619	0.650000	0.86243	GAT		0.622	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778		14	31	0	0	0	0	14	31				
MROH7	374977	broad.mit.edu	37	1	55139731	55139731	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:55139731C>T	ENST00000421030.2	+	10	2128	c.1843C>T	c.(1843-1845)Ctc>Ttc	p.L615F	MROH7_ENST00000339553.5_Missense_Mutation_p.L615F|MROH7_ENST00000545244.1_Missense_Mutation_p.L183F|MROH7_ENST00000395690.2_Missense_Mutation_p.L615F|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.L615F|MROH7_ENST00000409996.1_Missense_Mutation_p.L183F|MROH7_ENST00000454855.2_Missense_Mutation_p.L133F	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	615						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											GCTGGGGAGACTCATCCTTCA	0.488																																						uc010ooe.1		NA																	0					0						c.(1843-1845)CTC>TTC		hypothetical protein LOC374977							124.0	132.0	129.0					1																	55139731		1917	4147	6064	SO:0001583	missense	374977					integral to membrane	binding	g.chr1:55139731C>T	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.1843C>T	1.37:g.55139731C>T	ENSP00000396622:p.Leu615Phe					C1orf175_uc001cxq.2_RNA|C1orf175_uc010ooc.1_Missense_Mutation_p.L183F|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Missense_Mutation_p.L133F|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Missense_Mutation_p.L615F|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA	p.L615F	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN			10	2167	+			615					A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	ENST00000421030.2	37	c.1843C>T	CCDS41342.2	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335475	0.81801	.	.	ENSG00000184313	ENST00000421030;ENST00000545244;ENST00000414867;ENST00000339553;ENST00000409996;ENST00000454855;ENST00000395690	T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71	4.65	4.65	0.58169	.	0.000000	0.43747	D	0.000526	T	0.57330	0.2046	L	0.41632	1.29	0.40972	D	0.984704	D;D;D	0.76494	0.989;0.996;0.999	P;D;D	0.69824	0.858;0.925;0.966	T	0.58120	-0.7692	10	0.44086	T	0.13	-16.1355	13.0837	0.59127	0.0:1.0:0.0:0.0	.	615;615;183	F8W8P2;Q68CQ1;F5H7R4	.;HEAT8_HUMAN;.	F	615;183;644;615;183;133;615	ENSP00000396622:L615F;ENSP00000442333:L183F;ENSP00000343211:L615F;ENSP00000387048:L183F;ENSP00000401130:L133F;ENSP00000379044:L615F	ENSP00000343211:L615F	L	+	1	0	HEATR8	54912319	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.578000	0.53892	2.153000	0.67306	0.558000	0.71614	CTC		0.488	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		23	86	0	0	0	0	23	86				
DPH5	51611	broad.mit.edu	37	1	101490909	101490909	+	Silent	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:101490909G>A	ENST00000370109.3	-	2	203	c.91C>T	c.(91-93)Ctg>Ttg	p.L31L	DPH5_ENST00000488176.1_Silent_p.L31L|RP11-421L21.3_ENST00000446527.1_RNA|DPH5_ENST00000342173.7_Silent_p.L31L|RP11-421L21.3_ENST00000453011.1_RNA|DPH5_ENST00000370105.3_5'UTR	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	31					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		diphthine synthase activity (GO:0004164)			endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		TAGGCTTCCAGATACACTCGA	0.507																																						uc001dts.2		NA																	0					0						c.(91-93)CTG>TTG		diphthine synthase isoform a							73.0	74.0	73.0					1																	101490909		1942	4158	6100	SO:0001819	synonymous_variant	51611				peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity	g.chr1:101490909G>A	AF132964	CCDS41358.1, CCDS41359.1	1p21.2	2013-05-02	2013-05-02		ENSG00000117543	ENSG00000117543			24270	protein-coding gene	gene with protein product		611075	"""DPH5 homolog (S. cerevisiae)"""			15485916, 23486472	Standard	NM_015958		Approved	CGI-30	uc001dtt.2	Q9H2P9	OTTHUMG00000010829	ENST00000370109.3:c.91C>T	1.37:g.101490909G>A						DPH5_uc001dtr.2_Silent_p.L31L|DPH5_uc001dtq.2_RNA|DPH5_uc001dtt.2_Silent_p.L31L|DPH5_uc001dtu.2_RNA|DPH5_uc001dtv.2_RNA|DPH5_uc001dtw.2_RNA|DPH5_uc001dtx.2_Silent_p.L31L|DPH5_uc001dty.2_5'UTR|DPH5_uc001dtz.2_RNA|uc001dua.2_5'Flank|uc001dub.2_5'Flank	p.L31L	NM_015958	NP_057042	Q9H2P9	DPH5_HUMAN		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)	2	238	-		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)	31					A8JZY6|D3DT62|Q9P017|Q9P0I4|Q9Y319	Silent	SNP	ENST00000370109.3	37	c.91C>T	CCDS41358.1																																																																																				0.507	DPH5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000029881.1	NM_015958		4	52	0	0	0	0	4	52				
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867	byFrequency	TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:145302714A>G	ENST00000369339.3	+	5	592	c.339A>G	c.(337-339)ttA>ttG	p.L113L	NBPF10_ENST00000369338.1_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Silent_p.L384L			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	384						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527																																						uc001end.3		NA																	6	Substitution - coding silent(6)		prostate(2)|kidney(2)|central_nervous_system(2)		0						c.(1150-1152)TTA>TTG		hypothetical protein LOC100132406																																				SO:0001819	synonymous_variant	100132406							g.chr1:145302714A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.339A>G	1.37:g.145302714A>G						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_5'UTR|NBPF10_uc001emq.1_Silent_p.L113L	p.L384L	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	8	1187	+	all_hematologic(923;0.032)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.1152A>G																																																																																					0.527	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		4	84	0	0	0	0	4	84				
TXNIP	10628	broad.mit.edu	37	1	145438932	145438932	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:145438932G>A	ENST00000369317.4	+	1	464	c.130G>A	c.(130-132)Gtt>Att	p.V44I	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	44					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGTCAAAGCCGTTAGGATCCT	0.542																																						uc001enn.3		NA																	0				ovary(2)	2						c.(130-132)GTT>ATT		thioredoxin interacting protein							157.0	140.0	146.0					1																	145438932		2203	4300	6503	SO:0001583	missense	10628				cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	g.chr1:145438932G>A	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.130G>A	1.37:g.145438932G>A	ENSP00000358323:p.Val44Ile					NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_5'Flank	p.V44I	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN			1	471	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		44					B4E3D3|Q16226|Q6PML0|Q9BXG9	Missense_Mutation	SNP	ENST00000369317.4	37	c.130G>A	CCDS913.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787419	0.70337	.	.	ENSG00000117289	ENST00000369317	T	0.15372	2.43	5.74	4.81	0.61882	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.125660	0.53938	D	0.000059	T	0.03608	0.0103	N	0.25144	0.715	0.51012	D	0.9999	B	0.14805	0.011	B	0.13407	0.009	T	0.17258	-1.0375	10	0.02654	T	1	-3.9557	14.3604	0.66768	0.0:0.1493:0.8507:0.0	.	44	Q9H3M7	TXNIP_HUMAN	I	44	ENSP00000358323:V44I	ENSP00000358323:V44I	V	+	1	0	TXNIP	144150289	0.999000	0.42202	0.997000	0.53966	0.930000	0.56654	2.089000	0.41672	1.399000	0.46721	0.655000	0.94253	GTT		0.542	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	NM_006472		24	58	0	0	0	0	24	58				
LAMC2	3918	broad.mit.edu	37	1	183195980	183195980	+	Missense_Mutation	SNP	C	C	G	rs201614830		TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:183195980C>G	ENST00000264144.4	+	9	1279	c.1214C>G	c.(1213-1215)gCg>gGg	p.A405G	LAMC2_ENST00000493293.1_Missense_Mutation_p.A405G	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	405	Laminin EGF-like 4; second part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AGAGATTCAGCGAGACTGGGG	0.542																																						uc001gqa.2		NA																	0				skin(2)|ovary(1)	3						c.(1213-1215)GCG>GGG		laminin, gamma 2 isoform a precursor							181.0	192.0	188.0					1																	183195980		2203	4300	6503	SO:0001583	missense	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183195980C>G	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.1214C>G	1.37:g.183195980C>G	ENSP00000264144:p.Ala405Gly					LAMC2_uc001gpz.3_Missense_Mutation_p.A405G|LAMC2_uc010poa.1_Missense_Mutation_p.A105G	p.A405G	NM_005562	NP_005553	Q13753	LAMC2_HUMAN			9	1528	+			405			Laminin EGF-like 4; second part.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	c.1214C>G	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.628121	0.66901	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	T;T	0.63417	-0.04;-0.04	5.39	5.39	0.77823	EGF-like, laminin (2);	0.167505	0.40640	N	0.001046	T	0.55705	0.1937	N	0.11724	0.165	0.43342	D	0.995398	P;P;P	0.47350	0.894;0.894;0.841	P;P;P	0.53224	0.721;0.721;0.519	T	0.57289	-0.7837	10	0.37606	T	0.19	.	13.4536	0.61184	0.0:0.9246:0.0:0.0753	.	405;405;405	Q2M1N2;Q13753;Q13753-2	.;LAMC2_HUMAN;.	G	405	ENSP00000432063:A405G;ENSP00000264144:A405G	ENSP00000264144:A405G	A	+	2	0	LAMC2	181462603	0.991000	0.36638	0.332000	0.25469	0.475000	0.33008	5.445000	0.66594	2.512000	0.84698	0.549000	0.68633	GCG		0.542	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		16	250	0	0	0	0	16	250				
RGS2	5997	broad.mit.edu	37	1	192778228	192778228	+	Silent	SNP	T	T	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:192778228T>C	ENST00000235382.5	+	1	58	c.27T>C	c.(25-27)gtT>gtC	p.V9V	RGS2_ENST00000483295.1_3'UTR	NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN	regulator of G-protein signaling 2	9					brown fat cell differentiation (GO:0050873)|cell cycle (GO:0007049)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phospholipase activity (GO:0010519)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of microtubule polymerization (GO:0031116)|regulation of adrenergic receptor signaling pathway (GO:0071877)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of translation (GO:0006417)|relaxation of cardiac muscle (GO:0055119)|relaxation of vascular smooth muscle (GO:0060087)|spermatogenesis (GO:0007283)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			large_intestine(3)|lung(1)|urinary_tract(1)	5						TCTTGGCTGTTCAACACGACT	0.562																																					Pancreas(71;51 2183 4981)	uc001gsl.2		NA																	0					0						c.(25-27)GTT>GTC		regulator of G-protein signaling 2							182.0	160.0	167.0					1																	192778228		2203	4300	6503	SO:0001819	synonymous_variant	5997				cell cycle|negative regulation of cardiac muscle hypertrophy|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle	cytosol|internal side of plasma membrane|mitochondrion|nucleolus	calmodulin binding|GTPase activator activity|signal transducer activity	g.chr1:192778228T>C	L13463	CCDS1377.1	1q31	2014-06-19	2014-06-19		ENSG00000116741	ENSG00000116741		"""Regulators of G-protein signaling"", ""Endogenous ligands"""	9998	protein-coding gene	gene with protein product		600861	"""regulator of G-protein signalling 2, 24kD"", ""regulator of G-protein signalling 2, 24kDa"", ""regulator of G-protein signaling 2, 24kDa"""	G0S8		8179820	Standard	NM_002923		Approved		uc001gsl.3	P41220	OTTHUMG00000035600	ENST00000235382.5:c.27T>C	1.37:g.192778228T>C							p.V9V	NM_002923	NP_002914	P41220	RGS2_HUMAN			1	60	+			9					Q6I9U5	Silent	SNP	ENST00000235382.5	37	c.27T>C	CCDS1377.1																																																																																				0.562	RGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086396.1	NM_002923		3	101	0	0	0	0	3	101				
MTR	4548	broad.mit.edu	37	1	237037074	237037075	+	Splice_Site	DNP	GT	GT	AA			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:237037074_237037075GT>AA	ENST00000366577.5	+	23	2801_2802	c.2407_2408GT>AA	c.(2407-2409)GTt>AAt	p.V803N	MTR_ENST00000535889.1_Splice_Site_p.V752N	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	803	B12-binding. {ECO:0000255|PROSITE- ProRule:PRU00666}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GTGCCTCAGAGTTATTGATTTA	0.351																																						uc001hyi.3		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2407-2409)GTT>AAT		5-methyltetrahydrofolate-homocysteine	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)																																			SO:0001630	splice_region_variant	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237037074_237037075GT>AA	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	Exception_encountered	1.37:g.237037074_237037075delinsAA						MTR_uc010pxw.1_Missense_Mutation_p.V396N|MTR_uc010pxx.1_Missense_Mutation_p.V752N|MTR_uc010pxy.1_Missense_Mutation_p.V657N	p.V803N	NM_000254	NP_000245	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	23	2830_2831	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	803			B12-binding.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	DNP	ENST00000366577.5	37	c.2407_2408GT>AA	CCDS1614.1																																																																																				0.351	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254	Missense_Mutation	6	35	0	0	0	0	6	35				
OR2L2	26246	broad.mit.edu	37	1	248201982	248201982	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:248201982G>C	ENST00000366479.2	+	1	509	c.413G>C	c.(412-414)aGa>aCa	p.R138T	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	138						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATAAGCAAAAGAGTGTGTGTG	0.438																																						uc001idw.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(412-414)AGA>ACA		olfactory receptor, family 2, subfamily L,							186.0	165.0	172.0					1																	248201982		2203	4300	6503	SO:0001583	missense	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248201982G>C	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.413G>C	1.37:g.248201982G>C	ENSP00000355435:p.Arg138Thr					OR2L13_uc001ids.2_Intron	p.R138T	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	509	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		138			Cytoplasmic (Potential).		Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	c.413G>C	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	4.225	0.040660	0.08196	.	.	ENSG00000203663	ENST00000366479	T	0.41400	1.0	1.9	1.9	0.25705	GPCR, rhodopsin-like superfamily (1);	0.751444	0.10855	U	0.626725	T	0.29524	0.0736	L	0.31578	0.945	0.09310	N	1	B	0.06786	0.001	B	0.15484	0.013	T	0.22695	-1.0209	10	0.49607	T	0.09	.	7.1094	0.25382	0.1509:0.0:0.8491:0.0	.	138	Q8NH16	OR2L2_HUMAN	T	138	ENSP00000355435:R138T	ENSP00000355435:R138T	R	+	2	0	OR2L2	246268605	0.000000	0.05858	0.035000	0.18076	0.049000	0.14656	-0.302000	0.08221	0.897000	0.36392	0.194000	0.17425	AGA		0.438	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		5	143	0	0	0	0	5	143				
GFRA1	2674	broad.mit.edu	37	10	117884861	117884861	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr10:117884861C>T	ENST00000355422.6	-	6	1191	c.641G>A	c.(640-642)tGc>tAc	p.C214Y	GFRA1_ENST00000544592.1_Missense_Mutation_p.C93Y|GFRA1_ENST00000439649.3_Missense_Mutation_p.C209Y|GFRA1_ENST00000369236.1_Missense_Mutation_p.C209Y	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	214					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		CCGGCAGGAGCAGAAGAGCAT	0.587																																					Ovarian(128;329 1725 45498 46808 50759)	uc001lcj.2		NA																	0				ovary(1)|pancreas(1)	2						c.(640-642)TGC>TAC		GDNF family receptor alpha 1 isoform a							86.0	73.0	77.0					10																	117884861		2203	4300	6503	SO:0001583	missense	2674				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	g.chr10:117884861C>T	AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.641G>A	10.37:g.117884861C>T	ENSP00000347591:p.Cys214Tyr					GFRA1_uc001lci.2_Missense_Mutation_p.C209Y|GFRA1_uc009xyr.2_Missense_Mutation_p.C209Y	p.C214Y	NM_005264	NP_005255	P56159	GFRA1_HUMAN		all cancers(201;0.0337)	6	1339	-		Lung NSC(174;0.21)	214			2		A8KA21|O15507|O43912	Missense_Mutation	SNP	ENST00000355422.6	37	c.641G>A	CCDS44481.1	.	.	.	.	.	.	.	.	.	.	C	31	5.070520	0.93950	.	.	ENSG00000151892	ENST00000439649;ENST00000369236;ENST00000355422;ENST00000544592;ENST00000369234	D;D	0.89939	-2.59;-2.59	5.85	5.85	0.93711	GDNF/GAS1 (2);	0.094022	0.85682	D	0.000000	D	0.95711	0.8605	M	0.89414	3.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.95743	0.8785	10	0.87932	D	0	-12.4249	20.1775	0.98187	0.0:1.0:0.0:0.0	.	214;209	P56159;P56159-2	GFRA1_HUMAN;.	Y	214;209;209;93;209	ENSP00000358239:C209Y;ENSP00000442179:C93Y	ENSP00000347591:C209Y	C	-	2	0	GFRA1	117874851	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.771000	0.95319	0.561000	0.74099	TGC		0.587	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050512.2	NM_145793		9	43	0	0	0	0	9	43				
PAOX	196743	broad.mit.edu	37	10	135195045	135195045	+	Silent	SNP	C	C	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr10:135195045C>A	ENST00000278060.5	+	3	833	c.750C>A	c.(748-750)atC>atA	p.I250I	PAOX_ENST00000480071.2_Silent_p.I250I|PAOX_ENST00000368535.2_3'UTR|AL360181.1_ENST00000597657.1_5'Flank|PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000357296.3_Silent_p.I250I	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	388					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|positive regulation of spermidine biosynthetic process (GO:1901307)|putrescine biosynthetic process (GO:0009446)|putrescine catabolic process (GO:0009447)|small molecule metabolic process (GO:0044281)|spermidine catabolic process (GO:0046203)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	peroxisomal matrix (GO:0005782)	N(1),N(12)-diacetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052899)|N1-acetylspermidine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052904)|N1-acetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052903)|polyamine oxidase activity (GO:0046592)|receptor binding (GO:0005102)|spermidine:oxygen oxidoreductase (3-aminopropanal-forming) activity (GO:0052902)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		TGAAGACCATCCACTGGAACG	0.572																																						uc001lmv.2		NA																	0					0						c.(748-750)ATC>ATA		polyamine oxidase isoform 1							75.0	68.0	70.0					10																	135195045		2202	4300	6502	SO:0001819	synonymous_variant	196743				polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity	g.chr10:135195045C>A	BC032778	CCDS7682.1, CCDS7683.1, CCDS7684.1	10q26.3	2003-11-13			ENSG00000148832	ENSG00000148832			20837	protein-coding gene	gene with protein product		615853				12660232	Standard	NM_207127		Approved	PAO	uc001lmv.3	Q6QHF9	OTTHUMG00000019318	ENST00000278060.5:c.750C>A	10.37:g.135195045C>A						PAOX_uc001lmw.2_RNA|PAOX_uc001lmx.2_Silent_p.I250I|PAOX_uc001lmy.2_Silent_p.I250I|PAOX_uc001lmz.2_RNA|PAOX_uc001lna.2_RNA|PAOX_uc001lnb.2_RNA|PAOX_uc001lnc.2_RNA	p.I250I	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)	3	830	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	388					D3DXI6|Q5VWY0|Q6QHF5|Q6QHF6|Q6QHF7|Q6QHF8|Q6QHG0|Q6QHG1|Q6QHG2|Q6QHG3|Q6QHG4|Q6QHG5|Q6QHG6|Q86WP9|Q8N555|Q8NCX3	Silent	SNP	ENST00000278060.5	37	c.750C>A	CCDS7683.1																																																																																				0.572	PAOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051146.2	NM_152911		10	53	1	0	2.18e-05	2.93e-05	10	53				
NPAS4	266743	broad.mit.edu	37	11	66191328	66191328	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr11:66191328C>T	ENST00000311034.2	+	7	1143	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	323					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTGGAGCCTCCGCCAGCAGTT	0.552																																						uc001ohx.1		NA																	0					0						c.(967-969)CGC>TGC		neuronal PAS domain protein 4							77.0	80.0	79.0					11																	66191328		2200	4295	6495	SO:0001583	missense	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66191328C>T	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.967C>T	11.37:g.66191328C>T	ENSP00000311196:p.Arg323Cys					NPAS4_uc010rpc.1_Missense_Mutation_p.R113C	p.R323C	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN			7	1143	+			323					B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	c.967C>T	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.880747	0.51801	.	.	ENSG00000174576	ENST00000311034	T	0.51325	0.71	4.71	4.71	0.59529	.	0.000000	0.52532	D	0.000061	T	0.52386	0.1731	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.45160	-0.9280	10	0.35671	T	0.21	-11.155	10.5639	0.45161	0.1925:0.8075:0.0:0.0	.	323	Q8IUM7	NPAS4_HUMAN	C	323	ENSP00000311196:R323C	ENSP00000311196:R323C	R	+	1	0	NPAS4	65947904	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.510000	0.45468	2.607000	0.88179	0.561000	0.74099	CGC		0.552	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		28	101	0	0	0	0	28	101				
LRFN4	78999	broad.mit.edu	37	11	66627262	66627262	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr11:66627262G>T	ENST00000309602.4	+	2	1747	c.1504G>T	c.(1504-1506)Gcc>Tcc	p.A502S	LRFN4_ENST00000393952.3_Intron|PC_ENST00000393960.1_Intron|PC_ENST00000393955.2_Intron|PC_ENST00000393958.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	502	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)				breast(1)|lung(1)|prostate(1)	3						CACGCTGCCGGCCTCGCCCCT	0.692																																						uc001ojr.2		NA																	0					0						c.(1504-1506)GCC>TCC		leucine rich repeat and fibronectin type III							30.0	24.0	26.0					11																	66627262		2190	4286	6476	SO:0001583	missense	78999					integral to membrane		g.chr11:66627262G>T	BC007718	CCDS8153.1	11q13.1	2013-02-11				ENSG00000173621		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28456	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 6"""	612810				16495444, 16828986	Standard	NM_024036		Approved	MGC3103, SALM3., FIGLER6	uc001ojr.3	Q6PJG9		ENST00000309602.4:c.1504G>T	11.37:g.66627262G>T	ENSP00000312535:p.Ala502Ser					PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojs.2_Intron	p.A502S	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN			2	1844	+			502			Extracellular (Potential).		Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	Missense_Mutation	SNP	ENST00000309602.4	37	c.1504G>T	CCDS8153.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.061867	0.36373	.	.	ENSG00000173621	ENST00000309602	T	0.46451	0.87	4.47	4.47	0.54385	.	0.158715	0.29646	N	0.011578	T	0.24547	0.0595	N	0.24115	0.695	0.80722	D	1	B	0.30439	0.279	B	0.30943	0.122	T	0.05500	-1.0881	10	0.10111	T	0.7	.	8.4782	0.33027	0.1079:0.0:0.8921:0.0	.	502	Q6PJG9	LRFN4_HUMAN	S	502	ENSP00000312535:A502S	ENSP00000312535:A502S	A	+	1	0	LRFN4	66383838	0.089000	0.21612	0.359000	0.25824	0.471000	0.32888	2.729000	0.47327	2.062000	0.61559	0.462000	0.41574	GCC		0.692	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393127.1	NM_024036		4	11	1	0	0.00024832	0.000323568	4	11				
NUMA1	4926	broad.mit.edu	37	11	71725192	71725192	+	Silent	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr11:71725192G>A	ENST00000393695.3	-	15	3688	c.3357C>T	c.(3355-3357)ggC>ggT	p.G1119G	NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Silent_p.G1119G|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CCAGCTTGGGGCCTGTTGGCT	0.602			T	RARA	APL																																	uc001orl.1		NA		Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						c.(3355-3357)GGC>GGT		nuclear mitotic apparatus protein 1							76.0	82.0	80.0					11																	71725192		2200	4293	6493	SO:0001819	synonymous_variant	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71725192G>A	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.3357C>T	11.37:g.71725192G>A						NUMA1_uc009ysw.1_Silent_p.G682G|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Silent_p.G1119G|NUMA1_uc001orn.2_Silent_p.G682G|NUMA1_uc009ysx.1_Silent_p.G1119G|NUMA1_uc001oro.1_Silent_p.G1119G	p.G1119G	NM_006185	NP_006176	Q14980	NUMA1_HUMAN			15	3529	-			1119			Potential.			Silent	SNP	ENST00000393695.3	37	c.3357C>T	CCDS31633.1																																																																																				0.602	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			33	61	0	0	0	0	33	61				
TBCEL	219899	broad.mit.edu	37	11	120957788	120957788	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr11:120957788G>C	ENST00000529397.1	+	8	1358	c.1258G>C	c.(1258-1260)Gaa>Caa	p.E420Q	TBCEL_ENST00000422003.2_Missense_Mutation_p.E420Q	NM_001130047.1	NP_001123519.1	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	420	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		AATTTACGTGGAATCCAAAAC	0.413																																						uc009zay.2		NA																	0				skin(1)	1						c.(1258-1260)GAA>CAA		tubulin folding cofactor E-like							45.0	45.0	45.0					11																	120957788		2203	4298	6501	SO:0001583	missense	219899					cytoplasm|cytoskeleton		g.chr11:120957788G>C	BC020501	CCDS31692.1	11q23.3	2008-02-05	2006-11-21	2006-11-21		ENSG00000154114			28115	protein-coding gene	gene with protein product		610451	"""leucine rich repeat containing 35"", ""tubulin-specific chaperone e-like"""	LRRC35		15728251	Standard	NM_152715		Approved	MGC10233	uc001pxo.3	Q5QJ74		ENST00000529397.1:c.1258G>C	11.37:g.120957788G>C	ENSP00000437184:p.Glu420Gln					TBCEL_uc001pxo.2_Missense_Mutation_p.E420Q|TBCEL_uc001pxp.2_Missense_Mutation_p.E276Q|TBCEL_uc001pxq.2_RNA	p.E420Q	NM_001130047	NP_001123519	Q5QJ74	TBCEL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)	8	1336	+		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)	420			Ubiquitin-like.		Q0VAN6	Missense_Mutation	SNP	ENST00000529397.1	37	c.1258G>C	CCDS31692.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084757	0.55861	.	.	ENSG00000154114	ENST00000529397;ENST00000422003;ENST00000533169	T;T	0.30981	1.51;1.51	5.69	4.79	0.61399	Ubiquitin supergroup (1);	0.151927	0.64402	D	0.000020	T	0.22704	0.0548	N	0.24115	0.695	0.58432	D	0.999996	B	0.21905	0.062	B	0.20577	0.03	T	0.02781	-1.1111	10	0.30854	T	0.27	-14.3804	14.9436	0.71012	0.0687:0.0:0.9313:0.0	.	420	Q5QJ74	TBCEL_HUMAN	Q	420;420;223	ENSP00000437184:E420Q;ENSP00000403925:E420Q	ENSP00000403925:E420Q	E	+	1	0	TBCEL	120462998	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.228000	0.95250	1.404000	0.46819	0.655000	0.94253	GAA		0.413	TBCEL-005	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387688.1	NM_152715		8	16	0	0	0	0	8	16				
ACAD10	80724	broad.mit.edu	37	12	112182675	112182675	+	Missense_Mutation	SNP	C	C	T	rs201684179		TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr12:112182675C>T	ENST00000313698.4	+	13	2098	c.1943C>T	c.(1942-1944)tCa>tTa	p.S648L	ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_Missense_Mutation_p.S250L|ACAD10_ENST00000549590.1_Missense_Mutation_p.S648L|ACAD10_ENST00000455480.2_Missense_Mutation_p.S679L	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	648						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GCTCATACCTCAAGGGGAGGT	0.582																																						uc001tsq.2		NA																	0				ovary(2)	2						c.(1942-1944)TCA>TTA		acyl-Coenzyme A dehydrogenase family, member 10							77.0	71.0	73.0					12																	112182675		2203	4300	6503	SO:0001583	missense	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112182675C>T	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.1943C>T	12.37:g.112182675C>T	ENSP00000325137:p.Ser648Leu					ACAD10_uc001tsp.2_Missense_Mutation_p.S648L|ACAD10_uc009zvx.2_Missense_Mutation_p.S679L|ACAD10_uc001tss.1_RNA	p.S648L	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN			13	2143	+			648					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	c.1943C>T	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.826016	0.50739	.	.	ENSG00000111271	ENST00000392636;ENST00000413681;ENST00000549590;ENST00000455480;ENST00000515283;ENST00000313698;ENST00000507683	D;T;D;D	0.96334	-3.98;3.24;-3.59;-3.6	4.65	4.65	0.58169	Acyl-CoA dehydrogenase/oxidase (1);	0.816114	0.10846	N	0.627700	D	0.94840	0.8333	M	0.62723	1.935	0.09310	N	1	B;B;P	0.34724	0.015;0.105;0.465	B;B;B	0.31101	0.015;0.036;0.124	D	0.89089	0.3481	10	0.33940	T	0.23	.	16.4253	0.83813	0.0:1.0:0.0:0.0	.	679;648;648	G3XAJ0;Q6JQN1;Q6JQN1-2	.;ACD10_HUMAN;.	L	250;648;648;679;41;648;229	ENSP00000376411:S250L;ENSP00000446959:S648L;ENSP00000389813:S679L;ENSP00000325137:S648L	ENSP00000325137:S648L	S	+	2	0	ACAD10	110667058	0.077000	0.21312	0.010000	0.14722	0.024000	0.10985	4.760000	0.62235	2.413000	0.81919	0.655000	0.94253	TCA		0.582	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		4	58	0	0	0	0	4	58				
SLC15A1	6564	broad.mit.edu	37	13	99340612	99340612	+	Splice_Site	SNP	T	T	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr13:99340612T>C	ENST00000376503.5	-	20	1630		c.e20-2			NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1						digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	AAGCCTTTTCTATCAAAATAA	0.303																																						uc001vno.2		NA																	0				ovary(1)	1						c.e20-1		solute carrier family 15 (oligopeptide	Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)						56.0	58.0	57.0					13																	99340612		2203	4300	6503	SO:0001630	splice_region_variant	6564				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity	g.chr13:99340612T>C	U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"""Solute carriers"""	10920	protein-coding gene	gene with protein product	"""peptide transporter HPEPT1"", ""bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)"", ""solute carrier family 15 oligopeptide transporter member 1"""	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.1575-2A>G	13.37:g.99340612T>C							p.I525_splice	NM_005073	NP_005064	P46059	S15A1_HUMAN			20	1652	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)							Q5VW82	Splice_Site	SNP	ENST00000376503.5	37	c.1575_splice	CCDS9489.1	.	.	.	.	.	.	.	.	.	.	T	14.50	2.554934	0.45487	.	.	ENSG00000088386	ENST00000376503	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.716	0.57115	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC15A1	98138613	0.517000	0.26226	0.951000	0.38953	0.113000	0.19764	3.005000	0.49521	2.054000	0.61138	0.533000	0.62120	.		0.303	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3	NM_005073	Intron	3	57	0	0	0	0	3	57				
TRAF3	7187	broad.mit.edu	37	14	103363738	103363738	+	Splice_Site	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr14:103363738G>A	ENST00000560371.1	+	9	1177	c.960G>A	c.(958-960)caG>caA	p.Q320Q	TRAF3_ENST00000539721.1_Splice_Site_p.Q237Q|TRAF3_ENST00000347662.4_Splice_Site_p.Q295Q|TRAF3_ENST00000392745.2_Splice_Site_p.Q320Q|TRAF3_ENST00000351691.5_Splice_Site_p.Q295Q	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	320					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		TTCATTTACAGGTAAGAATCT	0.403																																						uc001ymc.1		NA																	0				ovary(1)|lung(1)|breast(1)	3						c.(958-960)CAG>CAA		TNF receptor-associated factor 3 isoform 1							51.0	48.0	49.0					14																	103363738		2203	4299	6502	SO:0001630	splice_region_variant	7187				apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:103363738G>A	U21092	CCDS9975.1, CCDS9976.1, CCDS55946.1	14q32.32	2014-09-17				ENSG00000131323			12033	protein-coding gene	gene with protein product		601896				7530216, 7859281	Standard	NM_145725		Approved	CAP-1, CD40bp, CRAF1, LAP1	uc001ymd.2	Q13114		ENST00000560371.1:c.960+1G>A	14.37:g.103363738G>A						TRAF3_uc001yme.1_Silent_p.Q295Q|TRAF3_uc001ymd.1_Silent_p.Q320Q|TRAF3_uc010txy.1_Silent_p.Q237Q	p.Q320Q	NM_145725	NP_663777	Q13114	TRAF3_HUMAN		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)	10	1313	+		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)	320			Potential.		B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Silent	SNP	ENST00000560371.1	37	c.960G>A	CCDS9975.1																																																																																				0.403	TRAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415735.1	NM_145725	Silent	3	16	0	0	0	0	3	16				
NEDD4	4734	broad.mit.edu	37	15	56130006	56130006	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr15:56130006T>G	ENST00000508342.1	-	20	3799	c.3500A>C	c.(3499-3501)cAa>cCa	p.Q1167P	NEDD4_ENST00000435532.3_Missense_Mutation_p.Q748P|NEDD4_ENST00000506154.1_Missense_Mutation_p.Q1151P|NEDD4_ENST00000338963.2_Missense_Mutation_p.Q1095P	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1167	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		AGCAGCCATTTGCTTCTGGAT	0.328																																						uc002adj.2		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.(3499-3501)CAA>CCA		neural precursor cell expressed, developmentally							91.0	85.0	87.0					15																	56130006		2193	4292	6485	SO:0001583	missense	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56130006T>G	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.3500A>C	15.37:g.56130006T>G	ENSP00000424827:p.Gln1167Pro					NEDD4_uc002adl.2_Missense_Mutation_p.Q748P|NEDD4_uc002adi.2_Missense_Mutation_p.Q1095P|NEDD4_uc010ugj.1_Missense_Mutation_p.Q1151P|NEDD4_uc010bfm.2_Missense_Mutation_p.Q1150P|NEDD4_uc002adk.2_Intron	p.Q1167P	NM_198400	NP_006145	P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	20	3800	-			1167			HECT.		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37	c.3500A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.5|22.5	4.293996|4.293996	0.81025|0.81025	.|.	.|.	ENSG00000069869|ENSG00000069869	ENST00000508871|ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154	.|T;T;T;T	.|0.52295	.|0.67;0.67;0.67;0.67	5.8|5.8	5.8|5.8	0.92144|0.92144	.|HECT (4);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.73087|0.73087	0.3542|0.3542	M|M	0.86573|0.86573	2.825|2.825	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.999;0.999;0.998	T|T	0.78518|0.78518	-0.2173|-0.2173	5|10	.|0.87932	.|D	.|0	.|.	15.3317|15.3317	0.74219|0.74219	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1151;748;1167;1095	.|P46934-2;P46934-4;P46934;P46934-3	.|.;.;NEDD4_HUMAN;.	Q|P	758|1167;748;1095;1151	.|ENSP00000424827:Q1167P;ENSP00000410613:Q748P;ENSP00000345530:Q1095P;ENSP00000422705:Q1151P	.|ENSP00000345530:Q1095P	K|Q	-|-	1|2	0|0	NEDD4|NEDD4	53917298|53917298	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.078000|6.078000	0.71282|0.71282	2.206000|2.206000	0.71126|0.71126	0.528000|0.528000	0.53228|0.53228	AAA|CAA		0.328	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		4	19	0	0	0	0	4	19				
SEPT1	1731	broad.mit.edu	37	16	30387481	30387481	+	IGR	SNP	G	G	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr16:30387481G>T	ENST00000571393.1	-	0	1589				MYLPF_ENST00000322861.7_Missense_Mutation_p.D38Y			Q8WYJ6	SEPT1_HUMAN	septin 1						cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			CACTGTGATCGACCAGAACCG	0.607																																						uc002dxv.1		NA																	0					0						c.(112-114)GAC>TAC		myosin light chain, phosphorylatable, fast							58.0	55.0	56.0					16																	30387481		2197	4300	6497	SO:0001628	intergenic_variant	29895				skeletal muscle tissue development	muscle myosin complex	calcium ion binding|structural constituent of muscle	g.chr16:30387481G>T	AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"""Septins"""	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984		16.37:g.30387481G>T							p.D38Y	NM_013292	NP_037424	Q96A32	MLRS_HUMAN	Colorectal(24;0.193)		3	168	+			38			|EF-hand 1.		B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Missense_Mutation	SNP	ENST00000571393.1	37	c.112G>T		.	.	.	.	.	.	.	.	.	.	G	20.6	4.023909	0.75390	.	.	ENSG00000180209	ENST00000322861	D	0.90004	-2.6	4.95	4.95	0.65309	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.97448	0.9165	H	0.99870	4.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99537	1.0962	10	0.87932	D	0	.	17.3941	0.87440	0.0:0.0:1.0:0.0	.	38	Q96A32	MLRS_HUMAN	Y	38	ENSP00000325239:D38Y	ENSP00000325239:D38Y	D	+	1	0	MYLPF	30294982	1.000000	0.71417	0.952000	0.39060	0.788000	0.44548	9.090000	0.94144	2.481000	0.83766	0.460000	0.39030	GAC		0.607	SEPT1-201	KNOWN	basic	protein_coding	protein_coding		NM_052838		9	45	1	0	2.53e-12	3.48e-12	9	45				
KCTD19	146212	broad.mit.edu	37	16	67335719	67335719	+	Silent	SNP	G	G	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr16:67335719G>C	ENST00000304372.5	-	5	805	c.750C>G	c.(748-750)gcC>gcG	p.A250A	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	250					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		ACCACCTTACGGCTTCAGTGA	0.468																																						uc002esu.2		NA																	0				skin(1)	1						c.(748-750)GCC>GCG		potassium channel tetramerisation domain							173.0	176.0	175.0					16																	67335719		1910	4122	6032	SO:0001819	synonymous_variant	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67335719G>C	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.750C>G	16.37:g.67335719G>C						KCTD19_uc002est.2_5'UTR|KCTD19_uc010vjj.1_5'UTR	p.A250A	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	5	801	-		Ovarian(137;0.192)	250					B4DZ49|Q8N804	Silent	SNP	ENST00000304372.5	37	c.750C>G	CCDS42179.1																																																																																				0.468	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		18	186	0	0	0	0	18	186				
MYO15A	51168	broad.mit.edu	37	17	18055176	18055176	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr17:18055176G>A	ENST00000205890.5	+	41	8142	c.7804G>A	c.(7804-7806)Gtg>Atg	p.V2602M	MYO15A_ENST00000418233.3_5'Flank|MYO15A_ENST00000585180.1_5'Flank	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2602	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGGCGGGAAAGTGTTCATGAA	0.567																																						uc010vxh.1		NA																	0				skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9						c.(7804-7806)GTG>ATG		myosin XV							40.0	46.0	44.0					17																	18055176		2032	4175	6207	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18055176G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.7804G>A	17.37:g.18055176G>A	ENSP00000205890:p.Val2602Met					MYO15A_uc010vxi.1_5'Flank|MYO15A_uc010vxj.1_5'Flank|MYO15A_uc010vxk.1_5'Flank	p.V2602M	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			40	8142	+	all_neural(463;0.228)		2602			Tail.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.7804G>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.004251	0.35320	.	.	ENSG00000091536	ENST00000205890	D	0.88818	-2.43	5.24	2.14	0.27477	.	.	.	.	.	D	0.82926	0.5143	L	0.53249	1.67	0.80722	D	1	B	0.20780	0.048	B	0.11329	0.006	T	0.75385	-0.3336	9	0.36615	T	0.2	.	5.4861	0.16751	0.246:0.1466:0.6074:0.0	.	2602	Q9UKN7	MYO15_HUMAN	M	2602	ENSP00000205890:V2602M	ENSP00000205890:V2602M	V	+	1	0	MYO15A	17995901	1.000000	0.71417	0.982000	0.44146	0.839000	0.47603	2.003000	0.40844	0.707000	0.31934	-0.258000	0.10820	GTG		0.567	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		3	13	0	0	0	0	3	13				
IGFBP4	3487	broad.mit.edu	37	17	38610286	38610286	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr17:38610286A>G	ENST00000269593.4	+	3	889	c.614A>G	c.(613-615)gAc>gGc	p.D205G	IGFBP4_ENST00000542955.1_Missense_Mutation_p.D105G	NM_001552.2	NP_001543.2	P22692	IBP4_HUMAN	insulin-like growth factor binding protein 4	205	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|DNA metabolic process (GO:0006259)|inflammatory response (GO:0006954)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CCCAACTGCGACCGCAACGGC	0.672																																					GBM(160;940 3581 26177)	uc002hus.2		NA																	0					0						c.(613-615)GAC>GGC		insulin-like growth factor binding protein 4							130.0	122.0	125.0					17																	38610286		2203	4300	6503	SO:0001583	missense	3487				DNA metabolic process|signal transduction|skeletal system development			g.chr17:38610286A>G	M38177	CCDS11367.1	17q21.2	2014-09-16	2001-11-28		ENSG00000141753	ENSG00000141753			5473	protein-coding gene	gene with protein product	"""IGF-binding protein 4"""	146733	"""insulin-like growth factor-binding protein 4"""			1707125, 1704481	Standard	NM_001552		Approved	IBP4, BP-4, HT29-IGFBP, IGFBP-4	uc002hus.3	P22692	OTTHUMG00000133326	ENST00000269593.4:c.614A>G	17.37:g.38610286A>G	ENSP00000269593:p.Asp205Gly						p.D205G	NM_001552	NP_001543	P22692	IBP4_HUMAN	STAD - Stomach adenocarcinoma(5;5.91e-05)		3	926	+		Breast(137;0.000496)	205			Thyroglobulin type-1.		A0N9W2|B4E351|Q5U012|Q9UCL6	Missense_Mutation	SNP	ENST00000269593.4	37	c.614A>G	CCDS11367.1	.	.	.	.	.	.	.	.	.	.	A	29.1	4.976873	0.92982	.	.	ENSG00000141753	ENST00000542955;ENST00000269593	T;T	0.69561	-0.41;-0.41	5.91	5.91	0.95273	Thyroglobulin type-1 (5);	0.000000	0.85682	D	0.000000	D	0.82342	0.5016	M	0.81802	2.56	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	D	0.84670	0.0711	10	0.72032	D	0.01	-20.881	14.59	0.68356	1.0:0.0:0.0:0.0	.	205	P22692	IBP4_HUMAN	G	105;205	ENSP00000437734:D105G;ENSP00000269593:D205G	ENSP00000269593:D205G	D	+	2	0	IGFBP4	35863812	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.984000	0.88150	2.254000	0.74563	0.533000	0.62120	GAC		0.672	IGFBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257134.1	NM_001552		3	138	0	0	0	0	3	138				
CDH19	28513	broad.mit.edu	37	18	64172339	64172339	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr18:64172339C>A	ENST00000262150.2	-	12	2321	c.2029G>T	c.(2029-2031)Gag>Tag	p.E677*	CDH19_ENST00000540086.1_3'UTR	NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	0	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CTCCTGATCTCAGCGCTTGTG	0.483																																						uc002lkc.1		NA																	0				ovary(1)|skin(1)	2						c.(2029-2031)GAG>TAG		cadherin 19, type 2 preproprotein							169.0	159.0	162.0					18																	64172339		2203	4300	6503	SO:0001587	stop_gained	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64172339C>A	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000262150.2:c.2029G>T	18.37:g.64172339C>A	ENSP00000262150:p.Glu677*					CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_3'UTR	p.E677*	NM_021153	NP_066976	Q9H159	CAD19_HUMAN			12	2167	-		Esophageal squamous(42;0.0132)	677			Cytoplasmic (Potential).		O15098	Nonsense_Mutation	SNP	ENST00000262150.2	37	c.2029G>T	CCDS11994.1	.	.	.	.	.	.	.	.	.	.	C	35	5.468061	0.96257	.	.	ENSG00000071991	ENST00000262150	.	.	.	5.19	4.31	0.51392	.	0.221132	0.48767	D	0.000169	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	15.2451	0.73502	0.0:0.7341:0.2659:0.0	.	.	.	.	X	677	.	ENSP00000262150:E677X	E	-	1	0	CDH19	62323319	0.765000	0.28485	0.106000	0.21319	0.079000	0.17450	1.333000	0.33816	1.287000	0.44583	0.655000	0.94253	GAG		0.483	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256219.1	NM_021153		47	128	1	0	3.55e-21	4.92e-21	47	128				
DNMT1	1786	broad.mit.edu	37	19	10251810	10251810	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr19:10251810G>T	ENST00000340748.4	-	30	3552	c.3317C>A	c.(3316-3318)cCt>cAt	p.P1106H	DNMT1_ENST00000540357.1_Missense_Mutation_p.P1106H|DNMT1_ENST00000589538.1_5'UTR|DNMT1_ENST00000359526.4_Missense_Mutation_p.P1122H			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1106					cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	TTTGTTTCCAGGGCTACGGGC	0.458																																						uc002mng.2		NA																	0				ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6						c.(3316-3318)CCT>CAT		DNA (cytosine-5-)-methyltransferase 1 isoform b	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						183.0	170.0	174.0					19																	10251810		2203	4300	6503	SO:0001583	missense	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10251810G>T	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.3317C>A	19.37:g.10251810G>T	ENSP00000345739:p.Pro1106His					DNMT1_uc002mne.2_5'Flank|DNMT1_uc002mnf.2_Missense_Mutation_p.P30H|DNMT1_uc010xlc.1_Missense_Mutation_p.P1122H|DNMT1_uc002mnh.2_Missense_Mutation_p.P1001H|DNMT1_uc010xld.1_Missense_Mutation_p.P1106H	p.P1106H	NM_001379	NP_001370	P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		30	3497	-			1106					A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	c.3317C>A	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.370269	0.42003	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.23754	1.89;1.9;1.9	5.6	3.33	0.38152	.	0.303141	0.35378	N	0.003242	T	0.17109	0.0411	N	0.22421	0.69	0.34216	D	0.674864	B;B;B	0.10296	0.002;0.003;0.0	B;B;B	0.10450	0.005;0.005;0.002	T	0.14117	-1.0484	10	0.36615	T	0.2	.	11.662	0.51352	0.0:0.1339:0.7271:0.139	.	1106;1122;1106	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	H	1122;1106;1106;974	ENSP00000352516:P1122H;ENSP00000440457:P1106H;ENSP00000345739:P1106H	ENSP00000345739:P1106H	P	-	2	0	DNMT1	10112810	1.000000	0.71417	0.808000	0.32385	0.985000	0.73830	4.660000	0.61511	1.324000	0.45282	0.655000	0.94253	CCT		0.458	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		6	161	1	0	0.000157383	0.000206641	6	161				
ZNF180	7733	broad.mit.edu	37	19	44981990	44981990	+	Silent	SNP	A	A	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr19:44981990A>G	ENST00000221327.4	-	5	989	c.708T>C	c.(706-708)caT>caC	p.H236H	ZNF180_ENST00000391956.4_Silent_p.H211H|ZNF180_ENST00000592529.1_Silent_p.H209H|AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000585514.1_5'Flank	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	236					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TAATCTTCTGATGACTGTTTA	0.343																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)	uc002ozf.3		NA																	0				ovary(2)	2						c.(706-708)CAT>CAC		zinc finger protein 180							84.0	85.0	85.0					19																	44981990		2203	4300	6503	SO:0001819	synonymous_variant	7733				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44981990A>G	AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"""Zinc fingers, C2H2-type"", ""-"""	12970	protein-coding gene	gene with protein product		606740	"""zinc finger protein 180 (HHZ168)"""				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.708T>C	19.37:g.44981990A>G						ZNF180_uc002ozh.3_5'UTR|ZNF180_uc002ozi.3_Silent_p.H209H|ZNF180_uc002ozg.3_Silent_p.H235H|ZNF180_uc010ejm.2_Silent_p.H211H	p.H236H	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN			5	990	-		Prostate(69;0.0435)	236					B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Silent	SNP	ENST00000221327.4	37	c.708T>C	CCDS12639.1																																																																																				0.343	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256		9	67	0	0	0	0	9	67				
SH3RF3	344558	broad.mit.edu	37	2	110053585	110053585	+	Missense_Mutation	SNP	G	G	C	rs373211870		TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr2:110053585G>C	ENST00000309415.6	+	7	1811	c.1811G>C	c.(1810-1812)cGg>cCg	p.R604P		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	604							zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						AGCCAAGCCCGGAGCACCATT	0.642																																						uc010ywt.1		NA																	0				ovary(1)	1						c.(1810-1812)CGG>CCG		SH3 domain containing ring finger 3							18.0	26.0	24.0					2																	110053585		2056	4194	6250	SO:0001583	missense	344558						zinc ion binding	g.chr2:110053585G>C	AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"""RING-type (C3HC4) zinc fingers"""	24699	protein-coding gene	gene with protein product			"""SH3 multiple domains 4"""	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.1811G>C	2.37:g.110053585G>C	ENSP00000309186:p.Arg604Pro						p.R604P	NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN			7	1811	+			604					A0SDZ7|A8MPR1|Q8NDU1	Missense_Mutation	SNP	ENST00000309415.6	37	c.1811G>C		.	.	.	.	.	.	.	.	.	.	G	18.58	3.655451	0.67586	.	.	ENSG00000172985	ENST00000418513;ENST00000309415	T;T	0.60672	0.17;1.94	5.59	5.59	0.84812	.	0.377447	0.28889	N	0.013805	T	0.75488	0.3856	.	.	.	0.46376	D	0.999017	D	0.71674	0.998	D	0.69307	0.963	T	0.74993	-0.3474	9	0.44086	T	0.13	-23.3388	17.766	0.88477	0.0:0.0:1.0:0.0	.	604	Q8TEJ3	SH3R3_HUMAN	P	604	ENSP00000414997:R604P;ENSP00000309186:R604P	ENSP00000309186:R604P	R	+	2	0	SH3RF3	109420017	1.000000	0.71417	0.995000	0.50966	0.638000	0.38207	4.575000	0.60908	2.630000	0.89119	0.650000	0.86243	CGG		0.642	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289		7	18	0	0	0	0	7	18				
LRP2	4036	broad.mit.edu	37	2	170099522	170099522	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr2:170099522G>A	ENST00000263816.3	-	24	3896	c.3611C>T	c.(3610-3612)aCa>aTa	p.T1204I	LRP2_ENST00000443831.1_Missense_Mutation_p.T1067I	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1204	LDL-receptor class A 12. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ACAACGATTTGTGACGCCAAT	0.403																																						uc002ues.2		NA																	0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(3610-3612)ACA>ATA		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						147.0	139.0	142.0					2																	170099522		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170099522G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.3611C>T	2.37:g.170099522G>A	ENSP00000263816:p.Thr1204Ile					LRP2_uc010zdf.1_Missense_Mutation_p.T1067I	p.T1204I	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	24	3824	-			1204			LDL-receptor class A 12.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.3611C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	1.422	-0.572509	0.03882	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.95518	-3.73;-3.73	5.76	-2.68	0.06041	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	1.308390	0.04457	N	0.373751	D	0.89787	0.6816	L	0.31926	0.97	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.11329	0.006;0.003	T	0.76822	-0.2817	10	0.27785	T	0.31	.	2.5079	0.04649	0.2415:0.3269:0.3121:0.1195	.	1067;1204	E9PC35;P98164	.;LRP2_HUMAN	I	1204;1067	ENSP00000263816:T1204I;ENSP00000409813:T1067I	ENSP00000263816:T1204I	T	-	2	0	LRP2	169807768	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.163000	0.16520	-0.752000	0.04728	-0.793000	0.03317	ACA		0.403	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		36	74	0	0	0	0	36	74				
SEL1L2	80343	broad.mit.edu	37	20	13856747	13856747	+	Silent	SNP	C	C	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr20:13856747C>A	ENST00000284951.5	-	12	1115	c.1041G>T	c.(1039-1041)ggG>ggT	p.G347G	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Silent_p.G347G			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	347						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CGGCAGCATTCCCCTCTAAAT	0.363																																						uc010gcf.2		NA																	0				ovary(2)	2						c.(1039-1041)GGG>GGT		sel-1 suppressor of lin-12-like 2 precursor							150.0	141.0	144.0					20																	13856747		1875	4100	5975	SO:0001819	synonymous_variant	80343					integral to membrane	binding	g.chr20:13856747C>A	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1041G>T	20.37:g.13856747C>A						SEL1L2_uc002woq.3_Silent_p.G208G|SEL1L2_uc010zrl.1_Silent_p.G347G|SEL1L2_uc002wor.2_RNA	p.G347G	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN			12	1123	-			347			Extracellular (Potential).|Sel1-like 6.		B4DXX5	Silent	SNP	ENST00000284951.5	37	c.1041G>T																																																																																					0.363	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		9	145	1	0	0.000274275	0.000354702	9	145				
CDK5RAP1	51654	broad.mit.edu	37	20	31973565	31973565	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr20:31973565C>T	ENST00000357886.4	-	7	920	c.767G>A	c.(766-768)cGa>cAa	p.R256Q	CDK5RAP1_ENST00000473997.1_Missense_Mutation_p.R166Q|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.R256Q|CDK5RAP1_ENST00000477105.1_5'UTR|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.R256Q|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.R256Q			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	256					brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						GTCACAGCCTCGCATGATTGA	0.493																																						uc010gek.2		NA																	0				ovary(2)|skin(2)|lung(1)	5						c.(766-768)CGA>CAA		CDK5 regulatory subunit associated protein 1							92.0	79.0	83.0					20																	31973565		2203	4300	6503	SO:0001583	missense	51654				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity	g.chr20:31973565C>T	AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"""chromosome 20 open reading frame 34"""	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.767G>A	20.37:g.31973565C>T	ENSP00000350558:p.Arg256Gln					CDK5RAP1_uc002wyy.2_Missense_Mutation_p.R166Q|CDK5RAP1_uc002wyz.2_Missense_Mutation_p.R256Q|CDK5RAP1_uc002wza.2_Missense_Mutation_p.R256Q|CDK5RAP1_uc010gel.2_Missense_Mutation_p.R165Q|CDK5RAP1_uc010gem.2_Missense_Mutation_p.R256Q|CDK5RAP1_uc002wzc.1_Missense_Mutation_p.R256Q|CDK5RAP1_uc010gen.2_Missense_Mutation_p.R256Q	p.R256Q	NM_016408	NP_057492	Q96SZ6	CK5P1_HUMAN			7	891	-			256					A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Missense_Mutation	SNP	ENST00000357886.4	37	c.767G>A		.	.	.	.	.	.	.	.	.	.	C	26.1	4.707672	0.89018	.	.	ENSG00000101391	ENST00000346416;ENST00000357886;ENST00000339269;ENST00000452723;ENST00000544843	T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72	4.58	4.58	0.56647	Elongator protein 3/MiaB/NifB (1);Radical SAM, alpha/beta horseshoe (1);Methylthiotransferase, conserved site (1);Radical SAM (1);	0.000000	0.85682	D	0.000000	T	0.48095	0.1481	M	0.65320	2	0.80722	D	1	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	0.97110	1.0;0.995;1.0;1.0;1.0;1.0;1.0	T	0.48937	-0.8990	10	0.66056	D	0.02	-7.7991	14.8974	0.70654	0.0:1.0:0.0:0.0	.	256;256;256;256;256;256;166	Q675N4;Q96SZ6-4;Q96SZ6;Q675N5;Q53H36;Q96SZ6-3;Q96SZ6-2	.;.;CK5P1_HUMAN;.;.;.;.	Q	256;256;256;166;256	ENSP00000217372:R256Q;ENSP00000350558:R256Q;ENSP00000341840:R256Q;ENSP00000408133:R166Q;ENSP00000439034:R256Q	ENSP00000341840:R256Q	R	-	2	0	CDK5RAP1	31437226	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	7.401000	0.79962	2.368000	0.80403	0.462000	0.41574	CGA		0.493	CDK5RAP1-011	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078697.1	NM_016408		10	110	0	0	0	0	10	110				
ZNF512B	57473	broad.mit.edu	37	20	62660829	62660829	+	Intron	SNP	T	T	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr20:62660829T>C	ENST00000450537.1	-	1	56				ZNF512B_ENST00000217130.3_Intron|PRPF6_ENST00000535781.1_Missense_Mutation_p.L804P			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCCCATGTGCTCCTGGCCGTG	0.592																																						uc002yho.2		NA																	0				ovary(2)	2						c.(2530-2532)CTC>CCC		PRP6 pre-mRNA processing factor 6 homolog							87.0	82.0	84.0					20																	62660829		2203	4300	6503	SO:0001627	intron_variant	24148				assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity	g.chr20:62660829T>C	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.4+19228A>G	20.37:g.62660829T>C						PRPF6_uc002yhp.2_Missense_Mutation_p.L804P	p.L844P	NM_012469	NP_036601	O94906	PRP6_HUMAN			19	2699	+	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)		844					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.2531T>C	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.292642	0.80914	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	T;T	0.35605	1.3;1.3	5.44	5.44	0.79542	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.69043	0.3067	M	0.92604	3.325	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.99;0.999	T	0.77297	-0.2640	10	0.62326	D	0.03	-24.1535	15.8022	0.78463	0.0:0.0:0.0:1.0	.	804;844	O94906-2;O94906	.;PRP6_HUMAN	P	844;804	ENSP00000266079:L844P;ENSP00000446216:L804P	ENSP00000266079:L844P	L	+	2	0	PRPF6	62131273	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	7.902000	0.87389	2.202000	0.70862	0.533000	0.62120	CTC		0.592	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		13	58	0	0	0	0	13	58				
ALG12	79087	broad.mit.edu	37	22	50307071	50307071	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr22:50307071G>A	ENST00000330817.6	-	3	530	c.257C>T	c.(256-258)tCg>tTg	p.S86L		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	86					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosyltransferase activity (GO:0000009)|dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity (GO:0052917)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		TTCTAACAGCGAAAGCACGTA	0.552																																						uc003biy.2		NA																	0					0						c.(256-258)TCG>TTG		alpha-1,6-mannosyltransferase ALG12							93.0	89.0	91.0					22																	50307071		2203	4300	6503	SO:0001583	missense	79087				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane		g.chr22:50307071G>A	AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	2.4.1.260	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19358	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase"", ""dol-P-Man dependent alpha-1,6-mannosyltransferase"""	607144	"""asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)"", ""asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"""			11983712	Standard	NM_024105		Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.257C>T	22.37:g.50307071G>A	ENSP00000333813:p.Ser86Leu						p.S86L	NM_024105	NP_077010	Q9BV10	ALG12_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)	3	531	-		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	86			Helical; (Potential).		A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Missense_Mutation	SNP	ENST00000330817.6	37	c.257C>T	CCDS14081.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995197	0.54147	.	.	ENSG00000182858	ENST00000330817	D	0.87103	-2.21	5.34	5.34	0.76211	.	0.185092	0.48767	D	0.000177	D	0.90758	0.7099	M	0.73430	2.235	0.46376	D	0.999019	P	0.49559	0.925	P	0.51055	0.657	D	0.90249	0.4292	10	0.40728	T	0.16	-0.6291	19.0284	0.92944	0.0:0.0:1.0:0.0	.	86	Q9BV10	ALG12_HUMAN	L	86	ENSP00000333813:S86L	ENSP00000333813:S86L	S	-	2	0	ALG12	48693075	1.000000	0.71417	0.029000	0.17559	0.193000	0.23685	4.415000	0.59809	2.502000	0.84385	0.591000	0.81541	TCG		0.552	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317405.2	NM_024105		6	77	0	0	0	0	6	77				
PIK3R4	30849	broad.mit.edu	37	3	130452855	130452855	+	Silent	SNP	G	G	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr3:130452855G>C	ENST00000356763.3	-	4	1544	c.987C>G	c.(985-987)gcC>gcG	p.A329A		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	329					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TGGCAAACTGGGCCATGTAGG	0.428																																						uc003enj.2		NA																	0				ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						c.(985-987)GCC>GCG		phosphoinositide-3-kinase, regulatory subunit 4							93.0	94.0	94.0					3																	130452855		2203	4300	6503	SO:0001819	synonymous_variant	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130452855G>C	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.987C>G	3.37:g.130452855G>C							p.A329A	NM_014602	NP_055417	Q99570	PI3R4_HUMAN			4	1568	-			329					Q2TBF4	Silent	SNP	ENST00000356763.3	37	c.987C>G	CCDS3067.1																																																																																				0.428	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		25	127	0	0	0	0	25	127				
SLC9A9	285195	broad.mit.edu	37	3	142985669	142985669	+	Silent	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr3:142985669G>A	ENST00000316549.6	-	16	2021	c.1813C>T	c.(1813-1815)Cta>Tta	p.L605L		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	605					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TCCAGACCTAGCCTTGCAGGA	0.507																																						uc003evn.2		NA																	0				ovary(2)|skin(1)	3						c.(1813-1815)CTA>TTA		solute carrier family 9 (sodium/hydrogen							175.0	161.0	166.0					3																	142985669		2203	4300	6503	SO:0001819	synonymous_variant	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:142985669G>A	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1813C>T	3.37:g.142985669G>A							p.L605L	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN			16	1995	-			605					A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Silent	SNP	ENST00000316549.6	37	c.1813C>T	CCDS33872.1																																																																																				0.507	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		34	80	0	0	0	0	34	80				
CC2D2A	57545	broad.mit.edu	37	4	15556747	15556747	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr4:15556747G>A	ENST00000503292.1	+	21	2719	c.2539G>A	c.(2539-2541)Gac>Aac	p.D847N	CC2D2A_ENST00000389652.5_Missense_Mutation_p.D798N|CC2D2A_ENST00000424120.1_Missense_Mutation_p.D847N|CC2D2A_ENST00000413206.1_Missense_Mutation_p.D847N	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	847					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						AGGACTGACAGACATGAAAAA	0.468																																						uc010idv.2		NA																	0				pancreas(2)|ovary(1)	3						c.(2539-2541)GAC>AAC		coiled-coil and C2 domain containing 2A isoform							92.0	97.0	95.0					4																	15556747		1974	4151	6125	SO:0001583	missense	57545				cell projection organization	cilium|microtubule basal body		g.chr4:15556747G>A	AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.2539G>A	4.37:g.15556747G>A	ENSP00000421809:p.Asp847Asn					CC2D2A_uc003gnx.2_Missense_Mutation_p.D798N|CC2D2A_uc003gnz.1_RNA|CC2D2A_uc003goa.1_RNA	p.D847N	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN			21	2784	+			847					A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	ENST00000503292.1	37	c.2539G>A	CCDS47026.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778196	0.49786	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000503292;ENST00000389652	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	5.54	5.54	0.83059	.	0.105821	0.64402	D	0.000006	T	0.66025	0.2748	L	0.55834	1.745	0.80722	D	1	P;D	0.54964	0.855;0.969	B;P	0.47470	0.43;0.548	T	0.65384	-0.6181	10	0.38643	T	0.18	.	19.4751	0.94983	0.0:0.0:1.0:0.0	.	847;798	Q9P2K1;Q9P2K1-2	C2D2A_HUMAN;.	N	847;847;798;798;847;798	ENSP00000403465:D847N;ENSP00000398391:D847N;ENSP00000421809:D847N;ENSP00000374303:D798N	ENSP00000374303:D798N	D	+	1	0	CC2D2A	15165845	1.000000	0.71417	0.975000	0.42487	0.311000	0.27955	9.576000	0.98192	2.618000	0.88619	0.655000	0.94253	GAC		0.468	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522		12	24	0	0	0	0	12	24				
AFF1	4299	broad.mit.edu	37	4	88029324	88029324	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr4:88029324C>G	ENST00000307808.6	+	10	1789	c.1369C>G	c.(1369-1371)Ctt>Gtt	p.L457V	AFF1_ENST00000395146.4_Missense_Mutation_p.L464V|AFF1_ENST00000544085.1_Missense_Mutation_p.L95V	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	457					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TCCACAGTCCCTTCCAGAACC	0.478																																						uc003hqj.3		NA																	0				breast(1)	1						c.(1369-1371)CTT>GTT		myeloid/lymphoid or mixed-lineage leukemia							113.0	100.0	104.0					4																	88029324		2203	4300	6503	SO:0001583	missense	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:88029324C>G	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.1369C>G	4.37:g.88029324C>G	ENSP00000305689:p.Leu457Val					AFF1_uc011ccz.1_Missense_Mutation_p.L464V|AFF1_uc003hqk.3_Missense_Mutation_p.L457V|AFF1_uc011cda.1_Missense_Mutation_p.L95V	p.L457V	NM_005935	NP_005926	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	10	1776	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	457					B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	c.1369C>G	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	C	6.394	0.440826	0.12104	.	.	ENSG00000172493	ENST00000395146;ENST00000307808;ENST00000511722;ENST00000544085;ENST00000514970	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	5.28	4.43	0.53597	.	0.525534	0.18012	N	0.154504	T	0.52370	0.1730	L	0.41710	1.295	0.19300	N	0.999975	B;B;B	0.34103	0.437;0.437;0.437	B;B;B	0.29862	0.108;0.108;0.108	T	0.38779	-0.9645	10	0.28530	T	0.3	-7.7926	15.7671	0.78135	0.137:0.863:0.0:0.0	.	464;457;457	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	V	464;457;95;95;148	ENSP00000378578:L464V;ENSP00000305689:L457V;ENSP00000424766:L95V;ENSP00000440843:L95V;ENSP00000424881:L148V	ENSP00000305689:L457V	L	+	1	0	AFF1	88248348	0.963000	0.33076	0.652000	0.29579	0.020000	0.10135	2.753000	0.47524	1.329000	0.45376	0.655000	0.94253	CTT		0.478	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		9	78	0	0	0	0	9	78				
GEMIN5	25929	broad.mit.edu	37	5	154296703	154296703	+	Silent	SNP	C	C	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr5:154296703C>T	ENST00000285873.7	-	13	1785	c.1710G>A	c.(1708-1710)ctG>ctA	p.L570L		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	570					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TAGTACAGATCAGTTTCAGGT	0.393																																						uc003lvx.3		NA																	0				skin(2)|ovary(1)	3						c.(1708-1710)CTG>CTA		gemin 5							125.0	127.0	126.0					5																	154296703		2203	4300	6503	SO:0001819	synonymous_variant	25929				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	g.chr5:154296703C>T	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.1710G>A	5.37:g.154296703C>T						GEMIN5_uc011ddk.1_Silent_p.L569L	p.L570L	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		13	1793	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	570			WD 10.		Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Silent	SNP	ENST00000285873.7	37	c.1710G>A	CCDS4330.1																																																																																				0.393	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1			12	142	0	0	0	0	12	142				
HLA-A	3105	broad.mit.edu	37	6	29910607	29910607	+	Silent	SNP	G	G	C	rs72555397		TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr6:29910607G>C	ENST00000396634.1	+	4	488	c.147G>C	c.(145-147)gtG>gtC	p.V49V	HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	49	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.V49V(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCATCGCCGTGGGCTACGTGG	0.692									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												uc003nol.2		NA																	2	Substitution - coding silent(2)		lung(1)|kidney(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(145-147)GTG>GTC		major histocompatibility complex, class I, A																																				SO:0001819	synonymous_variant	3105	Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910607G>C	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.147G>C	6.37:g.29910607G>C		Multiple Myeloma(9;0.094)				HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'UTR|HLA-A_uc003nok.2_5'UTR|HLA-A_uc003non.2_Silent_p.V49V|HLA-A_uc003noo.2_Silent_p.V49V|HLA-A_uc010jrr.2_Silent_p.V49V|HLA-A_uc003nom.2_5'UTR|HLA-A_uc010klp.2_Silent_p.V21V|HLA-A_uc011dmc.1_5'UTR|HLA-A_uc011dmd.1_5'Flank	p.V49V	NM_002116	NP_002107	P30443	1A01_HUMAN			2	147	+			49			Extracellular (Potential).|Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Silent	SNP	ENST00000396634.1	37	c.147G>C	CCDS34373.1																																																																																				0.692	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		4	38	0	0	0	0	4	38				
HECW1	23072	broad.mit.edu	37	7	43484116	43484116	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr7:43484116A>C	ENST00000395891.2	+	11	1950	c.1345A>C	c.(1345-1347)Atc>Ctc	p.I449L	HECW1_ENST00000453890.1_Missense_Mutation_p.I449L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	449					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCAAAAGGACATCCAGCCTGC	0.642																																						uc003tid.1		NA																	0				ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(1345-1347)ATC>CTC		NEDD4-like ubiquitin-protein ligase 1							17.0	21.0	20.0					7																	43484116		2104	4231	6335	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43484116A>C	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1345A>C	7.37:g.43484116A>C	ENSP00000379228:p.Ile449Leu					HECW1_uc011kbi.1_Missense_Mutation_p.I449L	p.I449L	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			11	1950	+			449					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.1345A>C	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	A	14.11	2.436769	0.43224	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.28069	1.63;1.66	4.88	-6.83	0.01693	.	5.053600	0.00166	N	0.000000	T	0.13072	0.0317	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.12451	-1.0547	10	0.25106	T	0.35	.	4.5069	0.11893	0.2005:0.4113:0.2975:0.0906	.	449;449	B4DH42;Q76N89	.;HECW1_HUMAN	L	449	ENSP00000379228:I449L;ENSP00000407774:I449L	ENSP00000265522:I449L	I	+	1	0	HECW1	43450641	0.000000	0.05858	0.000000	0.03702	0.545000	0.35147	-0.250000	0.08830	-1.142000	0.02869	0.482000	0.46254	ATC		0.642	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		3	20	0	0	0	0	3	20				
ESYT2	57488	broad.mit.edu	37	7	158528232	158528232	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr7:158528232C>G	ENST00000251527.5	-	20	2613	c.2548G>C	c.(2548-2550)Ggc>Cgc	p.G850R	ESYT2_ENST00000435514.2_Missense_Mutation_p.G285R	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	878	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						AGGAAGCCGCCACTGTTCTTC	0.458																																						uc003wob.1		NA																	0				central_nervous_system(2)|kidney(1)	3						c.(2548-2550)GGC>CGC		family with sequence similarity 62 (C2 domain							161.0	168.0	166.0					7																	158528232		2203	4300	6503	SO:0001583	missense	57488					integral to membrane|plasma membrane		g.chr7:158528232C>G	AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"""Synaptotagmins"""	22211	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member B"""	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.2548G>C	7.37:g.158528232C>G	ENSP00000251527:p.Gly850Arg					ESYT2_uc003wny.1_RNA|ESYT2_uc003wnz.1_Missense_Mutation_p.G289R|ESYT2_uc003woa.1_Missense_Mutation_p.G427R	p.G850R	NM_020728	NP_065779	A0FGR8	ESYT2_HUMAN			20	2614	-			878			C2 3.		A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Missense_Mutation	SNP	ENST00000251527.5	37	c.2548G>C	CCDS34791.1	.	.	.	.	.	.	.	.	.	.	C	7.785	0.710279	0.15239	.	.	ENSG00000117868	ENST00000251527;ENST00000421679;ENST00000275418;ENST00000435514	T;T;T	0.08193	3.12;3.12;3.12	5.59	5.59	0.84812	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.20659	0.0497	L	0.46614	1.455	0.80722	D	1	D;P	0.89917	1.0;0.606	D;P	0.97110	1.0;0.584	T	0.03212	-1.1060	10	0.06757	T	0.87	-20.2611	18.5774	0.91159	0.0:1.0:0.0:0.0	.	850;878	A0FGR8-2;A0FGR8	.;ESYT2_HUMAN	R	850;899;841;285	ENSP00000251527:G850R;ENSP00000275418:G841R;ENSP00000411488:G285R	ENSP00000251527:G850R	G	-	1	0	ESYT2	158220993	1.000000	0.71417	0.452000	0.26994	0.029000	0.11900	5.614000	0.67695	2.639000	0.89480	0.655000	0.94253	GGC		0.458	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322647.1	NM_020728		4	148	0	0	0	0	4	148				
TERF1	7013	broad.mit.edu	37	8	73921394	73921394	+	Silent	SNP	C	C	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr8:73921394C>T	ENST00000276603.5	+	1	296	c.273C>T	c.(271-273)cgC>cgT	p.R91R	TERF1_ENST00000276602.6_Silent_p.R91R	NM_017489.2	NP_059523.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	91	TRFH dimerization.				age-dependent telomere shortening (GO:0001309)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of DNA replication (GO:0008156)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of apoptotic process (GO:0043065)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of mitosis (GO:0045840)|positive regulation of mitotic cell cycle (GO:0045931)|protein homooligomerization (GO:0051260)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded telomeric DNA binding (GO:0003691)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			GAGCTTTCCGCGACGGCCGCT	0.716																																						uc003xzd.2		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(271-273)CGC>CGT		telomeric repeat binding factor 1 isoform 1							13.0	16.0	15.0					8																	73921394		1965	3891	5856	SO:0001819	synonymous_variant	7013				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding	g.chr8:73921394C>T	U74382	CCDS6210.1, CCDS6211.1	8q21.11	2011-05-24			ENSG00000147601	ENSG00000147601			11728	protein-coding gene	gene with protein product		600951		TRBF1		9391075	Standard	NM_003218		Approved	PIN2, TRF1, TRF	uc003xzd.2	P54274	OTTHUMG00000164522	ENST00000276603.5:c.273C>T	8.37:g.73921394C>T						TERF1_uc003xzc.2_RNA|TERF1_uc003xze.2_Silent_p.R91R	p.R91R	NM_017489	NP_059523	P54274	TERF1_HUMAN	Epithelial(68;0.0984)		1	298	+	Breast(64;0.218)		91			TRFH dimerization.		A7XP29|Q15553|Q8NHT6|Q93029	Silent	SNP	ENST00000276603.5	37	c.273C>T	CCDS6211.1																																																																																				0.716	TERF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379093.1	NM_017489		13	39	0	0	0	0	13	39				
TAF1L	138474	broad.mit.edu	37	9	32631389	32631389	+	Missense_Mutation	SNP	G	G	A	rs528038779		TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr9:32631389G>A	ENST00000242310.4	-	1	4278	c.4189C>T	c.(4189-4191)Cgc>Tgc	p.R1397C	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1397					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGGTCTGTGCGGCGTCGGTGG	0.468													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21409	0.0		0.0	False		,,,				2504	0.0					uc003zrg.1		NA																	0				lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(4189-4191)CGC>TGC		TBP-associated factor RNA polymerase 1-like							264.0	249.0	254.0					9																	32631389		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32631389G>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.4189C>T	9.37:g.32631389G>A	ENSP00000418379:p.Arg1397Cys					uc003zrh.1_5'Flank	p.R1397C	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	4279	-			1397					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.4189C>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.110883	0.56398	.	.	ENSG00000122728	ENST00000242310	T	0.19532	2.14	0.658	0.658	0.17855	Bromodomain (3);	0.000000	0.85682	D	0.000000	T	0.22666	0.0547	M	0.64997	1.995	0.58432	D	0.999998	D	0.71674	0.998	P	0.48677	0.586	T	0.04565	-1.0942	10	0.87932	D	0	.	3.7153	0.08435	0.0:1.0E-4:0.5695:0.4304	.	1397	Q8IZX4	TAF1L_HUMAN	C	1397	ENSP00000418379:R1397C	ENSP00000418379:R1397C	R	-	1	0	TAF1L	32621389	0.996000	0.38824	0.994000	0.49952	0.594000	0.36715	1.633000	0.37113	0.626000	0.30322	0.195000	0.17529	CGC		0.468	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			52	231	0	0	0	0	52	231				
POMT1	10585	broad.mit.edu	37	9	134386815	134386815	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr9:134386815C>G	ENST00000372228.3	+	10	1192	c.1013C>G	c.(1012-1014)cCc>cGc	p.P338R	POMT1_ENST00000541219.1_Missense_Mutation_p.P94R|POMT1_ENST00000341012.7_Missense_Mutation_p.P262R|POMT1_ENST00000404875.2_Missense_Mutation_p.P199R|POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000419118.2_Missense_Mutation_p.P164R|POMT1_ENST00000402686.3_Missense_Mutation_p.P316R|POMT1_ENST00000354713.4_Missense_Mutation_p.P286R|POMT1_ENST00000423007.1_Missense_Mutation_p.P316R	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	338	MIR 1. {ECO:0000255|PROSITE- ProRule:PRU00131}.				carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		AAACCTGTGCCCTGCTGGCTT	0.498																																						uc004cav.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(1012-1014)CCC>CGC		protein-O-mannosyltransferase 1 isoform a							128.0	109.0	115.0					9																	134386815		2203	4300	6503	SO:0001583	missense	10585				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr9:134386815C>G	AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	9202	protein-coding gene	gene with protein product	"""dolichyl-phosphate-mannose-protein mannosyltransferase"""	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.1013C>G	9.37:g.134386815C>G	ENSP00000361302:p.Pro338Arg					POMT1_uc004cax.2_Missense_Mutation_p.P316R|POMT1_uc011mcj.1_Missense_Mutation_p.P94R|POMT1_uc004cau.2_Missense_Mutation_p.P316R|POMT1_uc004caw.2_Missense_Mutation_p.P262R|POMT1_uc011mck.1_Missense_Mutation_p.P199R|POMT1_uc011mcl.1_Missense_Mutation_p.P164R|POMT1_uc011mcm.1_Missense_Mutation_p.P286R|POMT1_uc011mcn.1_Missense_Mutation_p.P41R	p.P338R	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)	10	1215	+		Myeloproliferative disorder(178;0.204)	338			MIR 1.		B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Missense_Mutation	SNP	ENST00000372228.3	37	c.1013C>G	CCDS6943.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598375	0.66332	.	.	ENSG00000130714	ENST00000423007;ENST00000404875;ENST00000341012;ENST00000441334;ENST00000372228;ENST00000402686;ENST00000419118;ENST00000541219;ENST00000354713	D;D;D;D;D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76	5.37	5.37	0.77165	MIR motif (2);MIR (1);	0.052758	0.85682	D	0.000000	D	0.85877	0.5799	L	0.45470	1.425	0.58432	D	0.999999	B;P;P;D;P	0.61697	0.274;0.737;0.555;0.99;0.829	B;B;B;P;P	0.59357	0.157;0.374;0.374;0.856;0.578	D	0.85756	0.1346	10	0.48119	T	0.1	-16.5555	13.5538	0.61747	0.1563:0.8437:0.0:0.0	.	41;286;94;338;316	B4DU61;B4DTW4;B4DI80;Q9Y6A1;Q9Y6A1-2	.;.;.;POMT1_HUMAN;.	R	316;199;262;221;338;316;164;94;286	ENSP00000404119:P316R;ENSP00000384531:P199R;ENSP00000343034:P262R;ENSP00000395060:P221R;ENSP00000361302:P338R;ENSP00000385797:P316R;ENSP00000403032:P164R;ENSP00000440895:P94R;ENSP00000346748:P286R	ENSP00000343034:P262R	P	+	2	0	POMT1	133376636	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	5.510000	0.67018	2.505000	0.84491	0.563000	0.77884	CCC		0.498	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054737.1	NM_007171		28	92	0	0	0	0	28	92				
FCN1	2219	broad.mit.edu	37	9	137801845	137801845	+	Silent	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr9:137801845G>A	ENST00000371806.3	-	9	871	c.780C>T	c.(778-780)gaC>gaT	p.D260D		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	260	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CATTGTCTTGGTCTTTGGTGG	0.483																																						uc004cfi.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(778-780)GAC>GAT		ficolin 1 precursor							219.0	221.0	221.0					9																	137801845		2203	4300	6503	SO:0001819	synonymous_variant	2219				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	g.chr9:137801845G>A	D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"""Fibrinogen C domain containing"""	3623	protein-coding gene	gene with protein product		601252	"""ficolin (collagen/fibrinogen domain-containing) 1"""			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.780C>T	9.37:g.137801845G>A							p.D260D	NM_002003	NP_001994	O00602	FCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)	9	872	-		Myeloproliferative disorder(178;0.0333)	260			Fibrinogen C-terminal.		Q5VYV5|Q92596	Silent	SNP	ENST00000371806.3	37	c.780C>T	CCDS6985.1																																																																																				0.483	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1	NM_002003		57	260	0	0	0	0	57	260				
MED12	9968	broad.mit.edu	37	X	70339729	70339729	+	Splice_Site	SNP	T	T	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chrX:70339729T>G	ENST00000374080.3	+	3	428		c.e3+2		MED12_ENST00000333646.6_Splice_Site|MED12_ENST00000374102.1_Splice_Site			Q93074	MED12_HUMAN	mediator complex subunit 12						androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GCCAAAAAGGTAAGGTACTGT	0.512			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															uc004dyy.2		NA		Dom	yes		X	Xq13	9968		mediator complex subunit 12	Yes		M					0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.e3+2		mediator complex subunit 12							36.0	35.0	35.0					X																	70339729		1991	4156	6147	SO:0001630	splice_region_variant	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70339729T>G	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.396+2T>G	X.37:g.70339729T>G						MED12_uc011mpq.1_Splice_Site_p.K132_splice|MED12_uc004dyz.2_Splice_Site_p.K132_splice|MED12_uc004dza.2_5'Flank	p.K132_splice	NM_005120	NP_005111	Q93074	MED12_HUMAN			3	595	+	Renal(35;0.156)							O15410|O75557|Q9UHV6|Q9UND7	Splice_Site	SNP	ENST00000374080.3	37	c.396_splice	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	18.25	3.583493	0.65992	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000429213;ENST00000430072	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1907	0.73041	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MED12	70256454	1.000000	0.71417	0.990000	0.47175	0.807000	0.45602	7.774000	0.85478	2.038000	0.60285	0.486000	0.48141	.		0.512	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120	Intron	4	8	0	0	0	0	4	8				
GDI1	2664	broad.mit.edu	37	X	153667402	153667402	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chrX:153667402T>G	ENST00000447750.2	+	4	639	c.304T>G	c.(304-306)Ttc>Gtc	p.F102V		NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	102					negative regulation of axonogenesis (GO:0050771)|negative regulation of protein targeting to membrane (GO:0090315)|protein transport (GO:0015031)|Rab protein signal transduction (GO:0032482)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|midbody (GO:0030496)|neuron projection (GO:0043005)|protein complex (GO:0043234)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Rab GDP-dissociation inhibitor activity (GO:0005093)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	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)					CTACCTGGACTTCAAGGTGGT	0.577																																						uc004fli.3		NA																	0					0						c.(304-306)TTC>GTC		GDP dissociation inhibitor 1							112.0	98.0	102.0					X																	153667402		2203	4300	6503	SO:0001583	missense	2664				protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding	g.chrX:153667402T>G	X79353	CCDS35452.1	Xq28	2008-08-01			ENSG00000203879	ENSG00000203879			4226	protein-coding gene	gene with protein product	"""mental retardation, X-linked 41"", ""mental retardation, X-linked 48"", ""rab GDP-dissociation inhibitor, alpha"""	300104		MRX48, MRX41, GDIL		7543319, 7849400	Standard	NM_001493		Approved	RABGDIA, XAP-4, OPHN2, FLJ41411	uc004fli.4	P31150	OTTHUMG00000033293	ENST00000447750.2:c.304T>G	X.37:g.153667402T>G	ENSP00000394071:p.Phe102Val					GDI1_uc011mzo.1_Missense_Mutation_p.F102V	p.F102V	NM_001493	NP_001484	P31150	GDIA_HUMAN			4	646	+	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)		102					P50394|Q6FG50|Q7Z2G6|Q7Z2G9|Q7Z2H5|Q7Z2I6	Missense_Mutation	SNP	ENST00000447750.2	37	c.304T>G	CCDS35452.1	.	.	.	.	.	.	.	.	.	.	T	29.9	5.047813	0.93740	.	.	ENSG00000203879	ENST00000447750;ENST00000369741	D	0.90563	-2.69	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.96275	0.8785	H	0.94808	3.585	0.80722	D	1	D;D	0.71674	0.993;0.998	D;D	0.78314	0.977;0.991	D	0.96869	0.9638	10	0.87932	D	0	-4.7387	11.7787	0.52001	0.0:0.0:0.0:1.0	.	102;102	B4DH24;P31150	.;GDIA_HUMAN	V	102	ENSP00000394071:F102V	ENSP00000358756:F102V	F	+	1	0	GDI1	153320596	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.032000	0.88838	1.681000	0.50988	0.407000	0.27541	TTC		0.577	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081649.2	NM_001493		24	31	0	0	0	0	24	31				
CDK11A	728642	broad.mit.edu	37	1	1650883	1650885	+	In_Frame_Del	DEL	TCT	TCT	-	rs201091435	byFrequency	TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:1650883_1650885delTCT	ENST00000378633.1	-	4	316_318	c.237_239delAGA	c.(235-240)gaagat>gat	p.E79del	CDK11A_ENST00000357760.2_In_Frame_Del_p.E79del|CDK11A_ENST00000358779.5_In_Frame_Del_p.E79del|CDK11A_ENST00000378638.2_In_Frame_Del_p.E45del|CDK11A_ENST00000378635.3_In_Frame_Del_p.E79del|CDK11A_ENST00000356200.3_In_Frame_Del_p.E45del|CDK11A_ENST00000404249.3_In_Frame_Del_p.E79del|RP1-283E3.8_ENST00000598846.1_RNA			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	79	Glu-rich.				apoptotic process (GO:0006915)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						CAAAGAATCATCTTCTTCTCCTC	0.394																																					Pancreas(186;965 2119 30274 40311 50569)	uc001agv.1		NA																	0				skin(1)	1						c.(235-240)GAAGAT>GAT		cell division cycle 2-like 1 (PITSLRE proteins)																																				SO:0001651	inframe_deletion	984				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr1:1650883_1650885delTCT	AF067522	CCDS44042.1, CCDS44043.1	1p36.33	2011-11-08	2009-12-16	2009-12-16	ENSG00000008128	ENSG00000008128		"""Cyclin-dependent kinases"""	1730	protein-coding gene	gene with protein product		116951	"""cell division cycle 2-like 2"", ""cell division cycle 2-like 2 (PITSLRE proteins)"""	CDC2L3, CDC2L2		7920654, 9750192, 19884882	Standard	NM_033529		Approved	PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA		Q9UQ88	OTTHUMG00000000703	ENST00000378633.1:c.237_239delAGA	1.37:g.1650889_1650891delTCT	ENSP00000367900:p.Glu79del					CDK11B_uc001ags.1_5'Flank|CDK11B_uc001agt.1_5'Flank|CDK11B_uc001aha.1_In_Frame_Del_p.E45del|CDK11B_uc001agw.1_In_Frame_Del_p.E45del|CDK11B_uc001agy.1_In_Frame_Del_p.E79del|CDK11B_uc001agx.1_In_Frame_Del_p.E79del|CDK11B_uc001agz.1_Translation_Start_Site|SLC35E2B_uc001ahh.3_Intron|SLC35E2_uc009vkm.1_Intron|CDK11A_uc009vkr.2_In_Frame_Del_p.E79del|CDK11A_uc009vks.2_In_Frame_Del_p.E79del|CDK11A_uc010nys.1_In_Frame_Del_p.E79del|CDK11A_uc010nyt.1_In_Frame_Del_p.E79del|CDK11A_uc010nyu.1_RNA|CDK11A_uc009vkt.1_In_Frame_Del_p.E79del|CDK11A_uc009vku.1_In_Frame_Del_p.E79del|CDK11A_uc009vkv.1_In_Frame_Del_p.E79del|CDK11A_uc001aht.1_In_Frame_Del_p.E79del|CDK11B_uc001ahu.1_In_Frame_Del_p.E79del|CDK11B_uc001ahv.1_In_Frame_Del_p.E79del|CDK11B_uc001ahw.1_In_Frame_Del_p.E79del	p.E79del	NM_033486	NP_277021	P21127	CD11B_HUMAN			6	348_350	-			79					O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	In_Frame_Del	DEL	ENST00000378633.1	37	c.237_239delAGA																																																																																					0.394	CDK11A-005	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000001735.1	NM_024011		21	386	NA	NA	NA	NA	21	386	---	---	---	---
ID3	3399	broad.mit.edu	37	1	23885665	23885665	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:23885665delC	ENST00000374561.5	-	1	620	c.253delG	c.(253-255)gccfs	p.A85fs	ID3_ENST00000486541.1_5'UTR	NM_002167.4	NP_002158.3	Q02535	ID3_HUMAN	inhibitor of DNA binding 3, dominant negative helix-loop-helix protein	85					central nervous system development (GO:0007417)|epithelial cell differentiation (GO:0030855)|heart development (GO:0007507)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|notochord development (GO:0030903)|odontogenesis (GO:0042476)|positive regulation of apoptotic process (GO:0043065)|regulation of cell cycle (GO:0051726)|regulation of DNA replication (GO:0006275)|response to wounding (GO:0009611)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|lung(3)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00314)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;8.83e-25)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;6.5e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		GCTGGCTCGGCCAGGACTACC	0.632																																						uc001bhh.3		NA																	0				central_nervous_system(1)	1						c.(253-255)GCCfs		inhibitor of DNA binding 3							49.0	57.0	54.0					1																	23885665		2203	4300	6503	SO:0001589	frameshift_variant	3399				negative regulation of sequence-specific DNA binding transcription factor activity		transcription corepressor activity	g.chr1:23885665delC	X69111	CCDS237.1	1p36.13-p36.12	2013-05-21			ENSG00000117318	ENSG00000117318		"""Basic helix-loop-helix proteins"""	5362	protein-coding gene	gene with protein product		600277				1628620	Standard	NM_002167		Approved	HEIR-1, bHLHb25	uc001bhh.4	Q02535	OTTHUMG00000003229	ENST00000374561.5:c.253delG	1.37:g.23885665delC	ENSP00000363689:p.Ala85fs					ID3_uc001bhg.1_Frame_Shift_Del_p.A85fs	p.A85fs	NM_002167	NP_002158	Q02535	ID3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;8.83e-25)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;6.5e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)	1	658	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00314)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	85					A8K1T8|O75641	Frame_Shift_Del	DEL	ENST00000374561.5	37	c.253delG	CCDS237.1																																																																																				0.632	ID3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008904.1	NM_002167		37	86	NA	NA	NA	NA	37	86	---	---	---	---
FCHSD2	9873	broad.mit.edu	37	11	72696108	72696108	+	Splice_Site	DEL	T	T	-			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr11:72696108delT	ENST00000409418.4	-	7	958	c.575delA	c.(574-576)aag>ag	p.K192fs	FCHSD2_ENST00000311172.7_Splice_Site_p.K136fs|FCHSD2_ENST00000409853.1_Splice_Site_p.K136fs|FCHSD2_ENST00000409314.1_Splice_Site_p.K192fs|FCHSD2_ENST00000458644.2_Splice_Site_p.K32fs	NM_014824.2	NP_055639.2	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	192										endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			AAAACTTACCTTTACACTTGC	0.289																																						uc009ytl.2		NA																	0				ovary(1)	1						c.(574-576)AAGfs		FCH and double SH3 domains 2							41.0	34.0	37.0					11																	72696108		2098	4121	6219	SO:0001630	splice_region_variant	9873						protein binding	g.chr11:72696108delT	AB018312	CCDS8218.2	11q13.3	2008-02-05	2004-04-14	2004-04-16	ENSG00000137478	ENSG00000137478			29114	protein-coding gene	gene with protein product			"""SH3 multiple domains 3"""	SH3MD3		9872452, 15067381	Standard	NM_014824		Approved	KIAA0769	uc009ytl.3	O94868	OTTHUMG00000153082	ENST00000409418.4:c.576+1A>-	11.37:g.72696108delT						FCHSD2_uc010rrg.1_Frame_Shift_Del_p.K32fs|FCHSD2_uc001oth.3_Frame_Shift_Del_p.K136fs|FCHSD2_uc001oti.2_Frame_Shift_Del_p.K151fs	p.K192fs	NM_014824	NP_055639	O94868	FCSD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.3e-05)		7	796	-			192					B4DNI3|Q7L8J9|Q8WVM2|Q96FV7|Q9UF77	Frame_Shift_Del	DEL	ENST00000409418.4	37	c.575delA	CCDS8218.2																																																																																				0.289	FCHSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329429.2	NM_014824	Frame_Shift_Del	2	4	NA	NA	NA	NA	2	4	---	---	---	---
RB1	5925	broad.mit.edu	37	13	49039220	49039220	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr13:49039220delA	ENST00000267163.4	+	22	2436	c.2298delA	c.(2296-2298)acafs	p.T766fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	766	Domain B.|Interaction with LIMD1.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(12)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GACTGAAAACAAATATTTTGC	0.338		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		27	Whole gene deletion(15)|Unknown(12)	p.?(8)	bone(11)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358						c.(2296-2298)ACAfs		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						70.0	72.0	72.0					13																	49039220		2203	4300	6503	SO:0001589	frameshift_variant	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49039220delA	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2298delA	13.37:g.49039220delA	ENSP00000267163:p.Thr766fs	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.T766fs	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	22	2464	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	766			Interaction with LIMD1.|Pocket; binds T and E1A.|Domain B.		A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	ENST00000267163.4	37	c.2298delA	CCDS31973.1																																																																																				0.338	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			13	22	NA	NA	NA	NA	13	22	---	---	---	---
SLITRK5	26050	broad.mit.edu	37	13	88329290	88329290	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr13:88329290delG	ENST00000325089.6	+	2	1866	c.1647delG	c.(1645-1647)ttgfs	p.L549fs	SLITRK5_ENST00000400028.3_Frame_Shift_Del_p.L308fs	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	549					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GTGGAGTTTTGGACCAGCTGA	0.537																																						uc001vln.2		NA																	0				ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(1645-1647)TTGfs		SLIT and NTRK-like family, member 5 precursor							108.0	105.0	106.0					13																	88329290		2203	4300	6503	SO:0001589	frameshift_variant	26050					integral to membrane		g.chr13:88329290delG	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1647delG	13.37:g.88329290delG	ENSP00000366283:p.Leu549fs					SLITRK5_uc010tic.1_Frame_Shift_Del_p.L308fs	p.L549fs	NM_015567	NP_056382	O94991	SLIK5_HUMAN			2	1866	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		549			Extracellular (Potential).|LRR 12.		B3KNB8|B4DSH5|Q5VT81	Frame_Shift_Del	DEL	ENST00000325089.6	37	c.1647delG	CCDS9465.1																																																																																				0.537	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			38	129	NA	NA	NA	NA	38	129	---	---	---	---
IQGAP1	8826	broad.mit.edu	37	15	91040514	91040516	+	In_Frame_Del	DEL	TCG	TCG	-			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr15:91040514_91040516delTCG	ENST00000268182.5	+	37	4926_4928	c.4802_4804delTCG	c.(4801-4806)ttcgaa>taa	p.1601_1602FE>*	IQGAP1_ENST00000560738.1_In_Frame_Del_p.1029_1030FE>*	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1601	C2.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GTTGGAGACTTCGAAGTGAAAGC	0.345																																						uc002bpl.1		NA																	0				ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8						c.(4801-4806)TTCGAA>TAA		IQ motif containing GTPase activating protein 1																																				SO:0001651	inframe_deletion	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:91040514_91040516delTCG	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.4802_4804delTCG	15.37:g.91040514_91040516delTCG	ENSP00000268182:p.Phe1601_Glu1602delins*					IQGAP1_uc010uqg.1_In_Frame_Del_p.222_223FE>*	p.1601_1602FE>*	NM_003870	NP_003861	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		37	4903_4905	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		1601_1602			C2.		A7MBM3	In_Frame_Del	DEL	ENST00000268182.5	37	c.4802_4804delTCG	CCDS10362.1																																																																																				0.345	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		9	33	NA	NA	NA	NA	9	33	---	---	---	---
TBCK	93627	broad.mit.edu	37	4	107092375	107092382	+	Frame_Shift_Del	DEL	AGTCCAAC	AGTCCAAC	-			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr4:107092375_107092382delAGTCCAAC	ENST00000273980.5	-	24	2552_2559	c.2105_2112delGTTGGACT	c.(2104-2112)tgttggactfs	p.CWT702fs	TBCK_ENST00000361687.4_Frame_Shift_Del_p.CWT639fs|TBCK_ENST00000432496.2_Frame_Shift_Del_p.CWT702fs|TBCK_ENST00000514689.1_5'UTR|TBCK_ENST00000394706.3_Frame_Shift_Del_p.CWT663fs|TBCK_ENST00000394708.2_Frame_Shift_Del_p.CWT702fs					TBC1 domain containing kinase											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						CACTTTTAGGAGTCCAACAAAACAGGTT	0.389																																						uc010ilv.2		NA																	0				large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)	5						c.(2104-2112)TGTTGGACTfs		TBC domain-containing protein kinase-like																																				SO:0001589	frameshift_variant	93627					intracellular	Rab GTPase activator activity	g.chr4:107092375_107092382delAGTCCAAC		CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.2105_2112delGTTGGACT	4.37:g.107092375_107092382delAGTCCAAC	ENSP00000273980:p.Cys702fs					TBCK_uc003hyb.2_Frame_Shift_Del_p.C445fs|TBCK_uc003hye.2_Frame_Shift_Del_p.C663fs|TBCK_uc003hyc.2_Frame_Shift_Del_p.C639fs|TBCK_uc003hyd.2_Frame_Shift_Del_p.C530fs|TBCK_uc003hyf.2_Frame_Shift_Del_p.C702fs	p.C702fs	NM_001163435	NP_001156907	Q8TEA7	TBCK_HUMAN			23	2470_2477	-			702_704						Frame_Shift_Del	DEL	ENST00000273980.5	37	c.2105_2112delGTTGGACT	CCDS54788.1																																																																																				0.389	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4	NM_033115		9	128	NA	NA	NA	NA	9	128	---	---	---	---
