#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	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ATM	472	broad.mit.edu	37	11	108235812	108235812	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr11:108235812C>T	ENST00000452508.2	+	63	9043	c.8854C>T	c.(8854-8856)Ctt>Ttt	p.L2952F	C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.L2952F|ATM_ENST00000525178.1_3'UTR			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2952	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.L2952F(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TGTTTAGGTCCTTCTATATGA	0.368			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		2	Substitution - Missense(2)	p.L2952F(2)	prostate(2)	NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(8854-8856)Ctt>Ttt	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							80.0	75.0	76.0					11																	108235812		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108235812C>T	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8854C>T	11.37:g.108235812C>T	ENSP00000388058:p.Leu2952Phe	TSP Lung(14;0.12)				C11orf65_ENST00000526725.1_Intron|ATM_ENST00000525178.1_3'UTR|ATM_ENST00000452508.2_Missense_Mutation_p.L2952F|C11orf65_ENST00000525729.1_Intron	p.L2952F	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	62	9239	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2952			PI3K/PI4K.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.8854C>T	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.817695	0.71028	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.80033	-1.33;-1.33	5.51	5.51	0.81932	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	T	0.75953	0.3920	N	0.04090	-0.28	0.80722	D	1	D	0.76494	0.999	D	0.65573	0.936	T	0.78250	-0.2277	10	0.38643	T	0.18	.	12.7706	0.57419	0.0:0.9252:0.0:0.0748	.	2952	Q13315	ATM_HUMAN	F	2952	ENSP00000278616:L2952F;ENSP00000388058:L2952F	ENSP00000278616:L2952F	L	+	1	0	ATM	107741022	1.000000	0.71417	0.964000	0.40570	0.764000	0.43329	3.196000	0.51020	2.605000	0.88082	0.650000	0.86243	CTT		0.368	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		4	102	0	0	0	0.184627	0	4	102				
TEX13A	56157	broad.mit.edu	37	X	104463752	104463752	+	Missense_Mutation	SNP	C	C	T	rs374863246		TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chrX:104463752C>T	ENST00000413579.1	-	5	1235	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H	TEX13A_ENST00000372578.3_3'UTR|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_3'UTR|IL1RAPL2_ENST00000372582.1_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	375							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CCCTGGCCTGCGATATACTGG	0.542													C|||	2	0.000529801	0.0015	0.0	3775	,	,		11188	0.0		0.0	False		,,,				2504	0.0					ENST00000413579.1																			0				large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						c.(1123-1125)cGc>cAc		testis expressed 13A		C	HIS/ARG,	4,3698		0,4,1562,570	163.0	152.0	156.0		1126,	2.5	0.0	X		156	0,6645		0,0,2408,1829	no	missense,intron	IL1RAPL2,TEX13A	NM_031274.3,NM_017416.1	29,	0,4,3970,2399	TT,TC,CC,C		0.0,0.108,0.0387	possibly-damaging,	375/410,	104463752	4,10343	2136	4237	6373	SO:0001583	missense	56157					intracellular	zinc ion binding	g.chrX:104463752C>T	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.1124G>A	X.37:g.104463752C>T	ENSP00000399753:p.Arg375His					TEX13A_ENST00000372575.1_3'UTR|TEX13A_ENST00000372578.3_3'UTR|IL1RAPL2_ENST00000372582.1_Intron|IL1RAPL2_ENST00000344799.4_Intron	p.R375H			Q9BXU3	TX13A_HUMAN			5	1235	-			375					B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	37	c.1124G>A		.	.	.	.	.	.	.	.	.	.	C	14.38	2.517349	0.44763	0.00108	0.0	ENSG00000133149	ENST00000413579	T	0.76448	-1.02	3.41	2.55	0.30701	.	0.459268	0.16326	N	0.219358	T	0.57946	0.2088	L	0.36672	1.1	0.09310	N	1	P	0.45715	0.865	B	0.29716	0.106	T	0.51204	-0.8735	10	0.37606	T	0.19	.	5.9166	0.19057	0.0:0.8517:0.0:0.1483	.	375	Q9BXU3	TX13A_HUMAN	H	375	ENSP00000399753:R375H	ENSP00000399753:R375H	R	-	2	0	TEX13A	104350408	0.017000	0.18338	0.004000	0.12327	0.105000	0.19272	0.810000	0.27183	0.831000	0.34780	-0.422000	0.05995	CGC		0.542	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		6	197	0	0	0	0.217242	0	6	197				
SNX15	29907	broad.mit.edu	37	11	64802432	64802432	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr11:64802432C>T	ENST00000377244.3	+	4	500	c.370C>T	c.(370-372)Cgg>Tgg	p.R124W	SNX15_ENST00000352068.5_Missense_Mutation_p.R124W|RP11-399J13.3_ENST00000301886.3_3'UTR	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	124	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	phosphatidylinositol binding (GO:0035091)	p.R124W(1)		endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						GGAGTTCTTCCGGGTATGTGC	0.582																																					Esophageal Squamous(56;269 1304 3324 8253)	ENST00000377244.3																			1	Substitution - Missense(1)	p.R124W(1)	prostate(1)	endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						c.(370-372)Cgg>Tgg		sorting nexin 15							61.0	55.0	57.0					11																	64802432		2201	4297	6498	SO:0001583	missense	29907				cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity	g.chr11:64802432C>T	AF175267	CCDS8089.1, CCDS8090.1	11q12	2008-05-22			ENSG00000110025	ENSG00000110025		"""Sorting nexins"""	14978	protein-coding gene	gene with protein product		605964				11208079	Standard	NM_013306		Approved			Q9NRS6	OTTHUMG00000037387	ENST00000377244.3:c.370C>T	11.37:g.64802432C>T	ENSP00000366452:p.Arg124Trp					SNX15_ENST00000301886.3_3'UTR	p.R124W	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN			4	500	+			124			PX.		E5KQS6|Q9NRS5	Missense_Mutation	SNP	ENST00000377244.3	37	c.370C>T	CCDS8089.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.305362	0.40795	.	.	ENSG00000110025	ENST00000377244;ENST00000534637;ENST00000524831;ENST00000352068	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	5.38	1.36	0.22044	Phox homologous domain (4);	0.000000	0.85682	D	0.000000	T	0.42562	0.1208	L	0.42245	1.32	0.58432	D	0.999991	D;D;P	0.89917	1.0;1.0;0.5	D;D;B	0.74674	0.984;0.965;0.096	T	0.34601	-0.9822	10	0.87932	D	0	-0.4928	2.9514	0.05862	0.2469:0.4864:0.1188:0.1478	.	124;124;124	E5KQS5;E5KQS6;Q9NRS6	.;.;SNX15_HUMAN	W	124;120;112;124	ENSP00000366452:R124W;ENSP00000437277:R120W;ENSP00000431690:R112W;ENSP00000316410:R124W	ENSP00000316410:R124W	R	+	1	2	SNX15	64559008	1.000000	0.71417	0.998000	0.56505	0.404000	0.30871	2.352000	0.44080	0.008000	0.14787	-3.207000	0.00054	CGG		0.582	SNX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091004.3			27	65	0	0	0	0.693898	0	27	65				
SV2A	9900	broad.mit.edu	37	1	149884960	149884960	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr1:149884960G>A	ENST00000369146.3	-	2	923	c.433C>T	c.(433-435)Cga>Tga	p.R145*	SV2A_ENST00000369145.1_Nonsense_Mutation_p.R145*	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	145					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)	p.R145*(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	AGTTCTTCTCGTTCTTTCCGT	0.637																																						ENST00000369146.3																			1	Substitution - Nonsense(1)	p.R145*(1)	prostate(1)	breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55						c.(433-435)Cga>Tga		synaptic vesicle glycoprotein 2A	Levetiracetam(DB01202)						118.0	117.0	117.0					1																	149884960		2203	4300	6503	SO:0001587	stop_gained	0				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149884960G>A	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.433C>T	1.37:g.149884960G>A	ENSP00000358142:p.Arg145*					SV2A_ENST00000369145.1_Nonsense_Mutation_p.R145*	p.R145*	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		2	923	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		145					D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Nonsense_Mutation	SNP	ENST00000369146.3	37	c.433C>T	CCDS940.1	.	.	.	.	.	.	.	.	.	.	G	39	7.607869	0.98387	.	.	ENSG00000159164	ENST00000369146;ENST00000369145	.	.	.	5.07	3.02	0.34903	.	0.490245	0.19507	N	0.112596	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-18.9207	12.8897	0.58064	0.0:0.0:0.5883:0.4117	.	.	.	.	X	145	.	ENSP00000358141:R145X	R	-	1	2	SV2A	148151584	0.059000	0.20769	0.978000	0.43139	0.994000	0.84299	0.498000	0.22530	1.344000	0.45657	0.557000	0.71058	CGA		0.637	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			35	62	0	0	0	0.819951	0	35	62				
PBX1	5087	broad.mit.edu	37	1	164789324	164789324	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr1:164789324T>G	ENST00000420696.2	+	7	1201	c.1013T>G	c.(1012-1014)tTt>tGt	p.F338C	PBX1_ENST00000540236.1_Missense_Mutation_p.F338C|PBX1_ENST00000559240.1_Intron|PBX1_ENST00000560641.1_Missense_Mutation_p.F233C|PBX1_ENST00000367897.1_Intron|PBX1_ENST00000401534.1_Intron|PBX1_ENST00000540246.1_Missense_Mutation_p.F233C	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	338					adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.F338C(1)	EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						TCCAGTTCTTTTAACATGTCA	0.473			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""																																	ENST00000420696.2				Dom	yes		1	1q23	5087	T	pre-B-cell leukemia transcription factor 1			"""L, M"""	"""TCF3, EWSR1"""		"""pre B-ALL, myoepithelioma"""	EWSR1/PBX1(3)	1	Substitution - Missense(1)	p.F338C(1)	prostate(1)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(1012-1014)tTt>tGt		pre-B-cell leukemia homeobox 1							77.0	76.0	76.0					1																	164789324		2203	4300	6503	SO:0001583	missense	5087				negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:164789324T>G	M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"""Homeoboxes / TALE class"""	8632	protein-coding gene	gene with protein product		176310	"""pre-B-cell leukemia transcription factor 1"""				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.1013T>G	1.37:g.164789324T>G	ENSP00000405890:p.Phe338Cys					PBX1_ENST00000560641.1_Missense_Mutation_p.F233C|PBX1_ENST00000367897.1_Intron|PBX1_ENST00000401534.1_Intron|PBX1_ENST00000559240.1_Intron|PBX1_ENST00000540246.1_Missense_Mutation_p.F233C|PBX1_ENST00000540236.1_Missense_Mutation_p.F338C	p.F338C	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN			7	1201	+			338					B4DSC1|F5H4U9|Q5T488	Missense_Mutation	SNP	ENST00000420696.2	37	c.1013T>G	CCDS1246.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.161543	0.78226	.	.	ENSG00000185630	ENST00000420696;ENST00000540236;ENST00000540246	D;D;D	0.89343	-2.42;-2.42;-2.5	5.61	5.61	0.85477	.	0.097622	0.64402	D	0.000001	D	0.92407	0.7590	M	0.77103	2.36	.	.	.	D;D;D;D	0.67145	0.987;0.992;0.995;0.996	P;P;D;P	0.63703	0.765;0.765;0.917;0.765	D	0.92585	0.6078	9	0.48119	T	0.1	-6.3713	15.47	0.75434	0.0:0.0:0.0:1.0	.	233;338;338;338	B7Z774;A8K5V0;F5H4U9;P40424	.;.;.;PBX1_HUMAN	C	338;338;233	ENSP00000405890:F338C;ENSP00000439943:F338C;ENSP00000440869:F233C	ENSP00000405890:F338C	F	+	2	0	PBX1	163055948	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.859000	0.69539	2.134000	0.65973	0.533000	0.62120	TTT		0.473	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082864.4	NM_002585		20	131	0	0	0	0.624587	0	20	131				
USP29	57663	broad.mit.edu	37	19	57640708	57640708	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr19:57640708T>C	ENST00000254181.4	+	4	1119	c.665T>C	c.(664-666)tTg>tCg	p.L222S	USP29_ENST00000598197.1_Missense_Mutation_p.L222S	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	222					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.L222S(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GATAGAGATTTGAAACTCGGG	0.363																																						ENST00000254181.4																			1	Substitution - Missense(1)	p.L222S(1)	prostate(1)	breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(664-666)tTg>tCg		ubiquitin specific peptidase 29							60.0	65.0	63.0					19																	57640708		2202	4300	6502	SO:0001583	missense	0				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57640708T>C		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.665T>C	19.37:g.57640708T>C	ENSP00000254181:p.Leu222Ser					USP29_ENST00000598197.1_Missense_Mutation_p.L222S	p.L222S	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	1119	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	222						Missense_Mutation	SNP	ENST00000254181.4	37	c.665T>C	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	T	4.385	0.071011	0.08436	.	.	ENSG00000131864	ENST00000254181	T	0.47528	0.84	2.69	-0.933	0.10431	.	1.601390	0.04661	N	0.408918	T	0.26122	0.0637	N	0.20986	0.625	0.09310	N	1	B	0.22276	0.067	B	0.16289	0.015	T	0.13019	-1.0525	10	0.02654	T	1	-0.4415	4.104	0.10028	0.0:0.517:0.2059:0.2771	.	222	Q9HBJ7	UBP29_HUMAN	S	222	ENSP00000254181:L222S	ENSP00000254181:L222S	L	+	2	0	USP29	62332520	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.086000	0.11233	-0.132000	0.11557	-0.462000	0.05337	TTG		0.363	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			55	139	0	0	0	0.870114	0	55	139				
TRIP13	9319	broad.mit.edu	37	5	908175	908175	+	Missense_Mutation	SNP	G	G	A	rs370247932		TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr5:908175G>A	ENST00000166345.3	+	8	1101	c.745G>A	c.(745-747)Gtg>Atg	p.V249M		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	249					double-strand break repair (GO:0006302)|female meiosis I (GO:0007144)|male meiosis I (GO:0007141)|oocyte maturation (GO:0001556)|oogenesis (GO:0048477)|reciprocal meiotic recombination (GO:0007131)|regulation of RNA biosynthetic process (GO:2001141)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transcription cofactor activity (GO:0003712)	p.V249M(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			CCTGGTGTTCGTGCTGATTGA	0.453																																						ENST00000166345.3																			1	Substitution - Missense(1)	p.V249M(1)	prostate(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18						c.(745-747)Gtg>Atg		thyroid hormone receptor interactor 13		G	MET/VAL,MET/VAL	1,4405		0,1,2202	168.0	156.0	160.0		745,745	5.6	1.0	5		160	0,8600		0,0,4300	no	missense,missense	TRIP13	NM_001166260.1,NM_004237.3	21,21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	249/290,249/433	908175	1,13005	2203	4300	6503	SO:0001583	missense	9319				double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity	g.chr5:908175G>A	L40384	CCDS3858.1	5p15	2010-04-21			ENSG00000071539	ENSG00000071539		"""ATPases / AAA-type"""	12307	protein-coding gene	gene with protein product	"""thyroid receptor interacting protein 13"""	604507				7776974	Standard	NM_004237		Approved	16E1BP	uc003jbr.3	Q15645	OTTHUMG00000090349	ENST00000166345.3:c.745G>A	5.37:g.908175G>A	ENSP00000166345:p.Val249Met						p.V249M	NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)		8	1101	+			249					C9K0T3|D3DTC0|O15324	Missense_Mutation	SNP	ENST00000166345.3	37	c.745G>A	CCDS3858.1	.	.	.	.	.	.	.	.	.	.	.	30	5.053497	0.93793	2.27E-4	0.0	ENSG00000071539	ENST00000166345	D	0.95554	-3.74	5.62	5.62	0.85841	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.98194	0.9403	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.98358	1.0547	10	0.59425	D	0.04	1.6987	19.6231	0.95667	0.0:0.0:1.0:0.0	.	249	Q15645	PCH2_HUMAN	M	249	ENSP00000166345:V249M	ENSP00000166345:V249M	V	+	1	0	TRIP13	961175	1.000000	0.71417	0.997000	0.53966	0.967000	0.64934	9.084000	0.94076	2.818000	0.97014	0.655000	0.94253	GTG		0.453	TRIP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206721.2	NM_004237		58	193	0	0	0	0.870114	0	58	193				
CARD9	64170	broad.mit.edu	37	9	139262118	139262118	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr9:139262118T>C	ENST00000371732.5	-	8	1405	c.1240A>G	c.(1240-1242)Agg>Ggg	p.R414G	CARD9_ENST00000460290.1_5'Flank|CARD9_ENST00000371734.3_Missense_Mutation_p.R414G	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	414					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)	cytoplasm (GO:0005737)	CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803)	p.R414G(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		TGCTGCCGCCTGAGCCTGCCC	0.721																																						ENST00000371732.5																			1	Substitution - Missense(1)	p.R414G(1)	prostate(1)	endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15						c.(1240-1242)Agg>Ggg		caspase recruitment domain family, member 9							25.0	24.0	24.0					9																	139262118		2185	4289	6474	SO:0001583	missense	64170				positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity	g.chr9:139262118T>C	AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796			16391	protein-coding gene	gene with protein product		607212				11053425	Standard	NM_052813		Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.1240A>G	9.37:g.139262118T>C	ENSP00000360797:p.Arg414Gly					CARD9_ENST00000371734.3_Missense_Mutation_p.R414G	p.R414G	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)	8	1405	-		Myeloproliferative disorder(178;0.0511)	414					Q5SXM5|Q5SXM6|Q9H854	Missense_Mutation	SNP	ENST00000371732.5	37	c.1240A>G	CCDS6997.1	.	.	.	.	.	.	.	.	.	.	T	13.43	2.233504	0.39498	.	.	ENSG00000187796	ENST00000371734;ENST00000371732	T;T	0.32988	1.43;1.43	3.76	2.57	0.30868	.	0.469100	0.19918	N	0.103152	T	0.22589	0.0545	L	0.38175	1.15	0.80722	D	1	B;B;B	0.33238	0.403;0.136;0.039	B;B;B	0.30782	0.12;0.053;0.024	T	0.05305	-1.0893	10	0.62326	D	0.03	-20.5954	9.5467	0.39284	0.0:0.0:0.1779:0.8221	.	310;414;414	B4DIK5;Q9H257-2;Q9H257	.;.;CARD9_HUMAN	G	414	ENSP00000360799:R414G;ENSP00000360797:R414G	ENSP00000360797:R414G	R	-	1	2	CARD9	138381939	0.998000	0.40836	0.992000	0.48379	0.620000	0.37586	2.082000	0.41605	0.591000	0.29711	0.482000	0.46254	AGG		0.721	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055053.1	NM_052813		2	12	0	0	0	0.115264	0	2	12				
GPALPP1	55425	broad.mit.edu	37	13	45594565	45594565	+	Splice_Site	SNP	T	T	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr13:45594565T>A	ENST00000379151.4	+	7	907		c.e7+2		GPALPP1_ENST00000357537.3_Splice_Site|GPALPP1_ENST00000361121.2_Splice_Site|RP11-321C24.1_ENST00000437748.2_lincRNA	NM_018559.2	NP_061029.2	Q8IXQ4	GPAM1_HUMAN	GPALPP motifs containing 1									p.?(1)									TCATACAATGTAAGTAAGAAA	0.418																																						ENST00000361121.2																			1	Unknown(1)	p.?(1)	prostate(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1)	12						c.e7+2									68.0	71.0	70.0					13																	45594565		2203	4299	6502	SO:0001630	splice_region_variant	0							g.chr13:45594565T>A	AB051491	CCDS9394.1	13q14.12	2013-08-13	2013-08-12	2013-08-12	ENSG00000133114	ENSG00000133114			20298	protein-coding gene	gene with protein product			"""KIAA1704"""	KIAA1704		11214970	Standard	NM_018559		Approved	bA245H20.2, AD029, LSR7	uc001uzq.3	Q8IXQ4	OTTHUMG00000016841	ENST00000379151.4:c.804+2T>A	13.37:g.45594565T>A						KIAA1704_ENST00000379151.4_Splice_Site|KIAA1704_ENST00000357537.3_Splice_Site|RP11-321C24.1_ENST00000437748.2_lincRNA				Q8IXQ4	K1704_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)	7	839	+		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)						A8K8X8|Q05BX8|Q05D87|Q5T3Z3|Q5T3Z5|Q9C0F9|Q9H2R0|Q9P0W6	Splice_Site	SNP	ENST00000379151.4	37		CCDS9394.1	.	.	.	.	.	.	.	.	.	.	T	18.82	3.705997	0.68615	.	.	ENSG00000133114	ENST00000379151;ENST00000361121;ENST00000357537	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9514	0.71077	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA1704	44492565	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	3.662000	0.54510	2.194000	0.70268	0.528000	0.53228	.		0.418	GPALPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044749.2	NM_018559	Intron	5	91	0	0	0	0.184627	0	5	91				
TRPM6	140803	broad.mit.edu	37	9	77448965	77448965	+	Silent	SNP	T	T	C			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr9:77448965T>C	ENST00000360774.1	-	6	855	c.618A>G	c.(616-618)ggA>ggG	p.G206G	TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000361255.3_Silent_p.G201G|TRPM6_ENST00000449912.2_Silent_p.G201G|TRPM6_ENST00000451710.3_Silent_p.G206G|TRPM6_ENST00000376871.3_Silent_p.G206G|TRPM6_ENST00000376864.4_Silent_p.G206G|TRPM6_ENST00000359047.2_Silent_p.G206G|TRPM6_ENST00000376872.3_Silent_p.G206G	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	206					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.G206G(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AAGGAGGGATTCCAACTGTCC	0.418																																						ENST00000451710.3																			1	Substitution - coding silent(1)	p.G206G(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(616-618)ggA>ggG		transient receptor potential cation channel, subfamily M, member 6							150.0	139.0	143.0					9																	77448965		2203	4300	6503	SO:0001819	synonymous_variant	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77448965T>C	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.618A>G	9.37:g.77448965T>C						TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000449912.2_Silent_p.G201G|TRPM6_ENST00000376864.4_Silent_p.G206G|TRPM6_ENST00000376871.3_Silent_p.G206G|TRPM6_ENST00000376872.3_Silent_p.G206G|TRPM6_ENST00000359047.2_Silent_p.G206G|TRPM6_ENST00000361255.3_Silent_p.G201G|TRPM6_ENST00000360774.1_Silent_p.G206G	p.G206G			Q9BX84	TRPM6_HUMAN			6	855	-			206					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Silent	SNP	ENST00000360774.1	37	c.618A>G	CCDS6647.1																																																																																				0.418	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		60	122	0	0	0	0.870114	0	60	122				
EMILIN3	90187	broad.mit.edu	37	20	39990961	39990961	+	Silent	SNP	G	G	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr20:39990961G>A	ENST00000332312.3	-	4	1440	c.1248C>T	c.(1246-1248)gcC>gcT	p.A416A		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	416						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)		p.A416A(1)		biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				GCTCATCCCCGGCCGGGGCAC	0.642																																						ENST00000332312.3																			1	Substitution - coding silent(1)	p.A416A(1)	prostate(1)	biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30						c.(1246-1248)gcC>gcT		elastin microfibril interfacer 3							47.0	52.0	51.0					20																	39990961		2203	4300	6503	SO:0001819	synonymous_variant	90187					proteinaceous extracellular matrix		g.chr20:39990961G>A	AL031667	CCDS13316.1	20q12	2005-11-06	2004-03-02	2004-03-02	ENSG00000183798	ENSG00000183798		"""EMI domain containing"""	16123	protein-coding gene	gene with protein product	"""chromosome 20 open reading frame 130"""	608929	"""elastin microfibril interfacer 5"""	C20orf130, EMILIN5		12221002	Standard	NM_052846		Approved	dJ620E11.4	uc002xjy.1	Q9NT22	OTTHUMG00000046304	ENST00000332312.3:c.1248C>T	20.37:g.39990961G>A							p.A416A	NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN			4	1440	-		Myeloproliferative disorder(115;0.00425)	416					Q495S5|Q495S6|Q495S7|Q76KT4	Silent	SNP	ENST00000332312.3	37	c.1248C>T	CCDS13316.1																																																																																				0.642	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106876.2	XM_029741		49	93	0	0	0	0.870114	0	49	93				
SYK	6850	broad.mit.edu	37	9	93606305	93606305	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr9:93606305G>A	ENST00000375754.4	+	2	273	c.125G>A	c.(124-126)cGc>cAc	p.R42H	SYK_ENST00000375751.4_Missense_Mutation_p.R42H|SYK_ENST00000375746.1_Missense_Mutation_p.R42H|SYK_ENST00000476708.1_3'UTR|SYK_ENST00000375747.1_Missense_Mutation_p.R42H	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	42	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.R42H(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TATTTGCTGCGCCAGAGCCGC	0.617			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""																																	ENST00000375754.4				Dom	yes		9	9q22	6850	T	spleen tyrosine kinase			L	"""ETV6, ITK"""		"""MDS, peripheral T-cell lymphoma"""		1	Substitution - Missense(1)	p.R42H(1)	prostate(1)	breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						c.(124-126)cGc>cAc		spleen tyrosine kinase							61.0	41.0	48.0					9																	93606305		2203	4300	6503	SO:0001583	missense	6850				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity	g.chr9:93606305G>A	L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"""SH2 domain containing"""	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.125G>A	9.37:g.93606305G>A	ENSP00000364907:p.Arg42His					SYK_ENST00000375746.1_Missense_Mutation_p.R42H|SYK_ENST00000375747.1_Missense_Mutation_p.R42H|SYK_ENST00000375751.4_Missense_Mutation_p.R42H|SYK_ENST00000476708.1_3'UTR	p.R42H	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN			2	273	+			42			SH2 1.			Missense_Mutation	SNP	ENST00000375754.4	37	c.125G>A	CCDS6688.1	.	.	.	.	.	.	.	.	.	.	G	34	5.392325	0.95988	.	.	ENSG00000165025	ENST00000375754;ENST00000375751;ENST00000375747;ENST00000375746	D;D;D;D	0.99292	-5.7;-5.7;-5.7;-5.7	5.16	5.16	0.70880	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.99625	0.9863	H	0.95470	3.675	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.97820	1.0256	10	0.87932	D	0	.	18.8405	0.92182	0.0:0.0:1.0:0.0	.	42;42;42	P43405-2;P43405;C3W981	.;KSYK_HUMAN;.	H	42	ENSP00000364907:R42H;ENSP00000364904:R42H;ENSP00000364899:R42H;ENSP00000364898:R42H	ENSP00000364898:R42H	R	+	2	0	SYK	92646126	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.046000	0.93817	2.682000	0.91365	0.655000	0.94253	CGC		0.617	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1			6	13	0	0	0	0.217242	0	6	13				
NBEAL2	23218	broad.mit.edu	37	3	47036899	47036899	+	Silent	SNP	A	A	G			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr3:47036899A>G	ENST00000450053.3	+	13	1853	c.1674A>G	c.(1672-1674)gcA>gcG	p.A558A	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Silent_p.A558A	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	558					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.A119A(1)|p.A558A(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCCGACACGCAGGTGCTGTCA	0.632																																						ENST00000450053.3																			2	Substitution - coding silent(2)	p.A119A(1)|p.A558A(1)	prostate(2)	NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(1672-1674)gcA>gcG		neurobeachin-like 2							35.0	41.0	39.0					3																	47036899		2159	4255	6414	SO:0001819	synonymous_variant	23218						binding	g.chr3:47036899A>G	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.1674A>G	3.37:g.47036899A>G						NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Silent_p.A558A	p.A558A	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	13	1853	+		Acute lymphoblastic leukemia(5;0.0534)	558					O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	37	c.1674A>G	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	A	5.292	0.239302	0.10023	.	.	ENSG00000160796	ENST00000416683	.	.	.	4.68	-4.62	0.03370	.	.	.	.	.	T	0.36799	0.0980	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39313	-0.9620	4	.	.	.	.	1.6302	0.02731	0.3561:0.2502:0.2792:0.1145	.	.	.	.	R	30	.	.	Q	+	2	0	NBEAL2	47011903	0.001000	0.12720	0.383000	0.26132	0.379000	0.30106	-1.710000	0.01888	-0.515000	0.06479	0.533000	0.62120	CAG		0.632	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		17	35	0	0	0	0.592651	0	17	35				
PIK3CG	5294	broad.mit.edu	37	7	106509965	106509965	+	Silent	SNP	C	C	T			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr7:106509965C>T	ENST00000359195.3	+	2	2269	c.1959C>T	c.(1957-1959)gaC>gaT	p.D653D	PIK3CG_ENST00000440650.2_Silent_p.D653D|PIK3CG_ENST00000496166.1_Silent_p.D653D	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	653	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.D653D(2)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						gcttggaggacgatgatgttc	0.443																																						ENST00000359195.3																			2	Substitution - coding silent(2)	p.D653D(2)	prostate(2)	breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(1957-1959)gaC>gaT		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							28.0	26.0	27.0					7																	106509965		2202	4299	6501	SO:0001819	synonymous_variant	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106509965C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.1959C>T	7.37:g.106509965C>T						PIK3CG_ENST00000440650.2_Silent_p.D653D|PIK3CG_ENST00000496166.1_Silent_p.D653D	p.D653D	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			2	2269	+			653					A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	c.1959C>T	CCDS5739.1																																																																																				0.443	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			22	58	0	0	0	0.592651	0	22	58				
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)cGc>cAc	Other conserved DNA damage response genes	tumor protein p53							50.0	50.0	50.0					17																	7578406		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578406C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H	p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	656	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		32	31	0	0	0	0.779181	0	32	31				
CACNG4	27092	broad.mit.edu	37	17	65021047	65021047	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr17:65021047G>A	ENST00000262138.3	+	3	378	c.376G>A	c.(376-378)Ggt>Agt	p.G126S		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	126					membrane depolarization (GO:0051899)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.G126S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			CCTGTGCATCGGTGCTGGCAG	0.672																																						ENST00000262138.3																			1	Substitution - Missense(1)	p.G126S(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19						c.(376-378)Ggt>Agt		calcium channel, voltage-dependent, gamma subunit 4							104.0	89.0	94.0					17																	65021047		2203	4300	6503	SO:0001583	missense	27092				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity	g.chr17:65021047G>A	AH008289	CCDS11667.1	17q24	2006-01-23				ENSG00000075461		"""Calcium channel subunits"""	1408	protein-coding gene	gene with protein product		606404				10613843	Standard	NM_014405		Approved	MGC11138, MGC24983	uc002jft.2	Q9UBN1		ENST00000262138.3:c.376G>A	17.37:g.65021047G>A	ENSP00000262138:p.Gly126Ser						p.G126S	NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.35e-07)		3	378	+	all_cancers(12;9.86e-11)		126					B2RCK0	Missense_Mutation	SNP	ENST00000262138.3	37	c.376G>A	CCDS11667.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606071	0.87157	.	.	ENSG00000075461	ENST00000262138	D	0.88124	-2.34	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.90998	0.7169	M	0.62723	1.935	0.80722	D	1	D	0.71674	0.998	D	0.66847	0.947	D	0.87636	0.2519	10	0.09843	T	0.71	-14.0217	18.2341	0.89944	0.0:0.0:1.0:0.0	.	126	Q9UBN1	CCG4_HUMAN	S	126	ENSP00000262138:G126S	ENSP00000262138:G126S	G	+	1	0	CACNG4	62451509	1.000000	0.71417	0.979000	0.43373	0.651000	0.38670	9.282000	0.95840	2.390000	0.81377	0.561000	0.74099	GGT		0.672	CACNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447036.1	NM_014405		80	88	0	0	0	0.870114	0	80	88				
MME	4311	broad.mit.edu	37	3	154860109	154860109	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr3:154860109C>A	ENST00000460393.1	+	12	1298	c.1178C>A	c.(1177-1179)gCt>gAt	p.A393D	MME_ENST00000492661.1_Missense_Mutation_p.A393D|MME_ENST00000493237.1_Missense_Mutation_p.A393D|MME_ENST00000360490.2_Missense_Mutation_p.A393D|MME_ENST00000462745.1_Missense_Mutation_p.A393D	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	393					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)	p.A393D(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	TCCAGAAATGCTTTCCGCAAG	0.378																																						ENST00000460393.1																			1	Substitution - Missense(1)	p.A393D(1)	prostate(1)	central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(1177-1179)gCt>gAt		membrane metallo-endopeptidase	Candoxatril(DB00616)						65.0	68.0	67.0					3																	154860109		2203	4300	6503	SO:0001583	missense	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154860109C>A		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1178C>A	3.37:g.154860109C>A	ENSP00000418525:p.Ala393Asp					MME_ENST00000493237.1_Missense_Mutation_p.A393D|MME_ENST00000492661.1_Missense_Mutation_p.A393D|MME_ENST00000462745.1_Missense_Mutation_p.A393D|MME_ENST00000360490.2_Missense_Mutation_p.A393D	p.A393D	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		12	1298	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	393					A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	c.1178C>A	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	C	6.260	0.416064	0.11870	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72	5.93	5.93	0.95920	Peptidase M13 (1);Metallopeptidase, catalytic domain (1);	0.170160	0.51477	D	0.000091	T	0.55433	0.1920	N	0.26130	0.795	0.42668	D	0.993506	B	0.15930	0.015	B	0.14023	0.01	T	0.50634	-0.8805	10	0.16896	T	0.51	-23.1534	11.5665	0.50809	0.1391:0.7268:0.1341:0.0	.	393	P08473	NEP_HUMAN	D	393	ENSP00000420389:A393D;ENSP00000418525:A393D;ENSP00000419653:A393D;ENSP00000417079:A393D;ENSP00000353679:A393D	ENSP00000353679:A393D	A	+	2	0	MME	156342803	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.522000	0.53480	2.803000	0.96430	0.585000	0.79938	GCT		0.378	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		10	166	1	0	0.000673444	0.361761	0.0007641	10	166				
CCDC178	374864	broad.mit.edu	37	18	30903561	30903561	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr18:30903561C>T	ENST00000383096.3	-	11	1098	c.916G>A	c.(916-918)Gaa>Aaa	p.E306K	CCDC178_ENST00000403303.1_Missense_Mutation_p.E306K|CCDC178_ENST00000406524.2_Missense_Mutation_p.E306K|CCDC178_ENST00000579947.1_Missense_Mutation_p.E306K|CCDC178_ENST00000300227.8_Missense_Mutation_p.E306K|CCDC178_ENST00000583930.1_Missense_Mutation_p.E306K|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000402325.1_Missense_Mutation_p.E306K			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	306								p.E306K(2)									AAAGCTTCTTCAAGTTCTTCA	0.308																																						ENST00000383096.3																			2	Substitution - Missense(2)	p.E306K(2)	prostate(2)								c.(916-918)Gaa>Aaa		coiled-coil domain containing 178							52.0	50.0	50.0					18																	30903561		2200	4294	6494	SO:0001583	missense	374864							g.chr18:30903561C>T	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.916G>A	18.37:g.30903561C>T	ENSP00000372576:p.Glu306Lys					CCDC178_ENST00000583930.1_Missense_Mutation_p.E306K|CCDC178_ENST00000406524.2_Missense_Mutation_p.E306K|CCDC178_ENST00000579947.1_Missense_Mutation_p.E306K|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000402325.1_Missense_Mutation_p.E306K|CCDC178_ENST00000300227.8_Missense_Mutation_p.E306K|CCDC178_ENST00000403303.1_Missense_Mutation_p.E306K	p.E306K							11	1098	-								A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	c.916G>A	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	C	9.815	1.184302	0.21870	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	4.52	-2.3	0.06785	.	.	.	.	.	T	0.15478	0.0373	L	0.29908	0.895	0.09310	N	0.999997	B;B;B;B	0.20052	0.041;0.041;0.041;0.041	B;B;B;B	0.19666	0.026;0.026;0.026;0.026	T	0.37549	-0.9701	9	0.06625	T	0.88	-3.2226	5.5523	0.17097	0.0:0.3054:0.4214:0.2732	.	306;306;306;306	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	K	306	ENSP00000385591:E306K;ENSP00000372576:E306K;ENSP00000300227:E306K;ENSP00000385867:E306K;ENSP00000385234:E306K	ENSP00000300227:E306K	E	-	1	0	C18orf34	29157559	0.099000	0.21834	0.270000	0.24601	0.006000	0.05464	-0.104000	0.10923	-0.630000	0.05567	-0.142000	0.14014	GAA		0.308	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		9	47	0	0	0	0.411799	0	9	47				
IGHV4-34	28395	broad.mit.edu	37	14	106829780	106829780	+	RNA	SNP	G	G	A	rs11546809	byFrequency	TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr14:106829780G>A	ENST00000390616.2	-	0	213									immunoglobulin heavy variable 4-34																		GGCGGATCCAGCTCCAGTAGT	0.582													G|||	2	0.000399361	0.0015	0.0	5008	,	,		14219	0.0		0.0	False		,,,				2504	0.0					ENST00000390616.2																			0																				61.0	64.0	63.0					14																	106829780		1884	4112	5996			0							g.chr14:106829780G>A	X92278		14q32.33	2012-02-08			ENSG00000211956	ENSG00000211956		"""Immunoglobulins / IGH locus"""	5650	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152074		14.37:g.106829780G>A														0	213	-									RNA	SNP	ENST00000390616.2	37																																																																																						0.582	IGHV4-34-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325168.1	NG_001019		4	60	0	0	0	0.184627	0	4	60				
NPR2	4882	broad.mit.edu	37	9	35811495	35811495	+	IGR	SNP	G	G	C	rs59748329|rs555852229|rs141090907	byFrequency	TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr9:35811495G>C	ENST00000342694.2	+	0	3686				SPAG8_ENST00000479751.1_5'Flank|SPAG8_ENST00000340291.2_Missense_Mutation_p.S183C|HINT2_ENST00000474908.1_5'Flank|SPAG8_ENST00000484764.1_Missense_Mutation_p.S181C|SPAG8_ENST00000396638.2_Missense_Mutation_p.S183C|TMEM8B_ENST00000377996.1_5'Flank|AL133410.1_ENST00000582432.1_RNA	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.S183C(2)|p.S183_G186delSGPG(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	accaggaccagagccaggacc	0.647																																						ENST00000340291.2																			3	Substitution - Missense(2)|Deletion - In frame(1)	p.S183C(2)|p.S183_G186delSGPG(1)	prostate(2)|upper_aerodigestive_tract(1)	NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(547-549)tCt>tGt		sperm associated antigen 8																																				SO:0001628	intergenic_variant	26206					acrosomal vesicle|membrane		g.chr9:35811495G>C	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871		9.37:g.35811495G>C						SPAG8_ENST00000396638.2_Missense_Mutation_p.S183C|SPAG8_ENST00000484764.1_Missense_Mutation_p.S181C|AL133410.1_ENST00000582432.1_RNA	p.S183C	NM_172312.1	NP_758516.1	Q99932	SPAG8_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		2	672	-	all_epithelial(49;0.161)		183			Gly-rich.		B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	c.548C>G	CCDS6590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.60|13.60	2.284870|2.284870	0.40394|0.40394	.|.	.|.	ENSG00000137098|ENSG00000137098	ENST00000497810|ENST00000340291;ENST00000484764;ENST00000396638	.|T;T;T	.|0.55588	.|0.51;0.51;0.51	1.8|1.8	0.72|0.72	0.18214|0.18214	.|.	.|3.367080	.|0.01239	.|U	.|0.008570	T|T	0.37625|0.37625	0.1010|0.1010	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|D;D	.|0.61697	.|0.972;0.99	.|B;P	.|0.45310	.|0.341;0.476	T|T	0.32745|0.32745	-0.9895|-0.9895	5|10	.|0.54805	.|T	.|0.06	10.8687|10.8687	6.3247|6.3247	0.21237|0.21237	0.0:0.3152:0.6848:0.0|0.0:0.3152:0.6848:0.0	.|.	.|183;183	.|E9PDV6;Q99932-2	.|.;.	V|C	181|183;181;183	.|ENSP00000340982:S183C;ENSP00000418072:S181C;ENSP00000379878:S183C	.|ENSP00000340982:S183C	L|S	-|-	1|2	2|0	SPAG8|SPAG8	35801495|35801495	0.085000|0.085000	0.21516|0.21516	0.004000|0.004000	0.12327|0.12327	0.858000|0.858000	0.48976|0.48976	0.597000|0.597000	0.24059|0.24059	0.034000|0.034000	0.15491|0.15491	0.374000|0.374000	0.22700|0.22700	CTG|TCT		0.647	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			21	16	0	0	0	0.608945	0	21	16				
VILL	50853	broad.mit.edu	37	3	38048106	38048106	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr3:38048106C>T	ENST00000283713.6	+	19	2638	c.2372C>T	c.(2371-2373)aCg>aTg	p.T791M	VILL_ENST00000465644.1_Missense_Mutation_p.T509M|VILL_ENST00000383759.2_Missense_Mutation_p.T791M			O15195	VILL_HUMAN	villin-like	791	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.				actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)	p.T791M(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		ACCAGCGCCACGATCAACGGG	0.667																																						ENST00000283713.6																			1	Substitution - Missense(1)	p.T791M(1)	prostate(1)	cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28						c.(2371-2373)aCg>aTg		villin-like							28.0	34.0	32.0					3																	38048106		2203	4297	6500	SO:0001583	missense	50853				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	g.chr3:38048106C>T		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.2372C>T	3.37:g.38048106C>T	ENSP00000283713:p.Thr791Met					VILL_ENST00000383759.2_Missense_Mutation_p.T791M|VILL_ENST00000465644.1_Missense_Mutation_p.T509M	p.T791M			O15195	VILL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	19	2638	+			791			HP.		A8MZP1|Q9BT80|Q9BWH7	Missense_Mutation	SNP	ENST00000283713.6	37	c.2372C>T	CCDS2670.2	.	.	.	.	.	.	.	.	.	.	c	8.400	0.841650	0.16963	.	.	ENSG00000136059	ENST00000283713;ENST00000383759;ENST00000356246;ENST00000465644	T;T;T	0.14766	2.56;2.56;2.48	4.19	-2.24	0.06909	Villin headpiece (3);	3.181230	0.01139	N	0.006171	T	0.05456	0.0144	N	0.02539	-0.55	0.09310	N	1	B	0.24576	0.106	B	0.17433	0.018	T	0.26467	-1.0102	10	0.28530	T	0.3	-0.0346	5.7591	0.18190	0.0:0.4438:0.144:0.4122	.	791	O15195	VILL_HUMAN	M	791;791;777;509	ENSP00000283713:T791M;ENSP00000373266:T791M;ENSP00000422096:T509M	ENSP00000283713:T791M	T	+	2	0	VILL	38023110	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.604000	0.05667	-0.519000	0.06444	0.457000	0.33378	ACG		0.667	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		25	52	0	0	0	0.769981	0	25	52				
SKIV2L	6499	broad.mit.edu	37	6	31930258	31930258	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr6:31930258G>C	ENST00000375394.2	+	11	1220	c.1107G>C	c.(1105-1107)aaG>aaC	p.K369N	SKIV2L_ENST00000544581.1_Missense_Mutation_p.K176N	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	369	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)	p.K369N(2)		breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GCAACCAGAAGTTCCGGGACT	0.587																																						ENST00000375394.2																			2	Substitution - Missense(2)	p.K369N(2)	prostate(2)	breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						c.(1105-1107)aaG>aaC		superkiller viralicidic activity 2-like (S. cerevisiae)							80.0	73.0	75.0					6																	31930258		2203	4300	6503	SO:0001583	missense	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31930258G>C		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.1107G>C	6.37:g.31930258G>C	ENSP00000364543:p.Lys369Asn					SKIV2L_ENST00000544581.1_Missense_Mutation_p.K176N	p.K369N	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN			11	1220	+			369			Helicase ATP-binding.		O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	ENST00000375394.2	37	c.1107G>C	CCDS4731.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.493324	0.84962	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.71103	-0.54;-0.54	5.49	4.62	0.57501	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89553	0.6748	H	0.99909	4.93	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92029	0.5632	10	0.87932	D	0	-28.6813	10.0964	0.42478	0.1617:0.0:0.8383:0.0	.	369	Q15477	SKIV2_HUMAN	N	369;211;176	ENSP00000364543:K369N;ENSP00000442645:K176N	ENSP00000364543:K369N	K	+	3	2	SKIV2L	32038237	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.110000	0.50352	1.328000	0.45358	0.655000	0.94253	AAG		0.587	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			48	93	0	0	0	0.870114	0	48	93				
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr11:3427765G>C	ENST00000529482.1	+	0	882									tumor suppressing subtransferable candidate 2 pseudogene																		CACACGTCCTGCAGTGGCCTG	0.602																																						ENST00000529482.1																			0																																																			0							g.chr11:3427765G>C			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427765G>C														0	882	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.602	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			3	76	0	0	0	0.115264	0	3	76				
LPHN3	23284	broad.mit.edu	37	4	62813870	62813870	+	Missense_Mutation	SNP	G	G	A	rs372785017		TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr4:62813870G>A	ENST00000514591.1	+	16	2806	c.2477G>A	c.(2476-2478)cGt>cAt	p.R826H	LPHN3_ENST00000508946.1_Missense_Mutation_p.R826H|LPHN3_ENST00000504896.1_Missense_Mutation_p.R826H|LPHN3_ENST00000506720.1_Missense_Mutation_p.R894H|LPHN3_ENST00000506746.1_Missense_Mutation_p.R894H|LPHN3_ENST00000512091.2_Missense_Mutation_p.R826H|LPHN3_ENST00000507625.1_Missense_Mutation_p.R894H|LPHN3_ENST00000545650.1_Missense_Mutation_p.R826H|LPHN3_ENST00000511324.1_Missense_Mutation_p.R894H|LPHN3_ENST00000507164.1_Missense_Mutation_p.R894H|LPHN3_ENST00000514157.1_Missense_Mutation_p.R826H|LPHN3_ENST00000508693.1_Missense_Mutation_p.R894H|LPHN3_ENST00000506700.1_Missense_Mutation_p.R826H|LPHN3_ENST00000509896.1_Missense_Mutation_p.R894H|LPHN3_ENST00000514996.1_Missense_Mutation_p.R826H			Q9HAR2	LPHN3_HUMAN	latrophilin 3	813	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.R826H(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TACTCCAAGCGTACAATGACA	0.383																																						ENST00000512091.1																			3	Substitution - Missense(3)	p.R826H(3)	prostate(3)	breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(2476-2478)cGt>cAt		latrophilin 3		G	HIS/ARG	0,3750		0,0,1875	88.0	78.0	81.0		2477	6.0	1.0	4		81	1,8211		0,1,4105	no	missense	LPHN3	NM_015236.4	29	0,1,5980	AA,AG,GG		0.0122,0.0,0.0084	benign	826/1470	62813870	1,11961	1875	4106	5981	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62813870G>A	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2477G>A	4.37:g.62813870G>A	ENSP00000422533:p.Arg826His					LPHN3_ENST00000504896.1_Missense_Mutation_p.R826H|LPHN3_ENST00000514157.1_Missense_Mutation_p.R826H|LPHN3_ENST00000511324.1_Missense_Mutation_p.R894H|LPHN3_ENST00000506700.1_Missense_Mutation_p.R826H|LPHN3_ENST00000506720.1_Missense_Mutation_p.R894H|LPHN3_ENST00000506746.1_Missense_Mutation_p.R894H|LPHN3_ENST00000509896.1_Missense_Mutation_p.R894H|LPHN3_ENST00000508946.1_Missense_Mutation_p.R826H|LPHN3_ENST00000514591.1_Missense_Mutation_p.R826H|LPHN3_ENST00000545650.1_Missense_Mutation_p.R826H|LPHN3_ENST00000507625.1_Missense_Mutation_p.R894H|LPHN3_ENST00000514996.1_Missense_Mutation_p.R826H|LPHN3_ENST00000507164.1_Missense_Mutation_p.R894H|LPHN3_ENST00000508693.1_Missense_Mutation_p.R894H	p.R826H			Q9HAR2	LPHN3_HUMAN			16	3224	+			813			GPS.		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.2477G>A	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826766	0.71143	0.0	1.22E-4	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70869	-0.49;-0.49;-0.5;-0.49;-0.48;-0.49;-0.49;-0.5;-0.49;-0.48;-0.49;-0.51;-0.52;-0.51;-0.5	5.98	5.98	0.97165	GPS domain (3);	0.113991	0.53938	D	0.000055	T	0.79094	0.4388	L	0.39467	1.215	0.43564	D	0.995889	D;D;D	0.76494	0.999;0.999;0.993	D;D;P	0.63033	0.91;0.91;0.799	T	0.78339	-0.2242	10	0.56958	D	0.05	.	20.5212	0.99222	0.0:0.0:1.0:0.0	.	826;813;826	E9PE04;Q9HAR2;Q9HAR2-2	.;LPHN3_HUMAN;.	H	826;826;894;894;826;826;813;826;894;894;894;826;826;826;894;894;826	ENSP00000423388:R826H;ENSP00000422533:R826H;ENSP00000423787:R894H;ENSP00000425033:R894H;ENSP00000424120:R826H;ENSP00000439831:R826H;ENSP00000421476:R894H;ENSP00000424030:R894H;ENSP00000421372:R894H;ENSP00000425201:R826H;ENSP00000423434:R826H;ENSP00000421627:R826H;ENSP00000420931:R894H;ENSP00000425884:R894H;ENSP00000424258:R826H	ENSP00000280009:R826H	R	+	2	0	LPHN3	62496465	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.479000	0.53165	2.861000	0.98227	0.650000	0.86243	CGT		0.383	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			27	51	0	0	0	0.717897	0	27	51				
SEZ6L	23544	broad.mit.edu	37	22	26688423	26688423	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr22:26688423C>A	ENST00000248933.6	+	2	241	c.146C>A	c.(145-147)tCa>tAa	p.S49*	SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000343706.4_Nonsense_Mutation_p.S49*|SEZ6L_ENST00000529632.2_Nonsense_Mutation_p.S49*|SEZ6L_ENST00000404234.3_Nonsense_Mutation_p.S49*|SEZ6L_ENST00000360929.3_Nonsense_Mutation_p.S49*|SEZ6L_ENST00000403121.1_5'UTR			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	49					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)		p.S49*(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CTCCTGCCCTCAGGAGCCCCG	0.582																																						ENST00000529632.2																			1	Substitution - Nonsense(1)	p.S49*(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						c.(145-147)tCa>tAa		seizure related 6 homolog (mouse)-like							48.0	41.0	44.0					22																	26688423		2203	4300	6503	SO:0001587	stop_gained	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26688423C>A	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.146C>A	22.37:g.26688423C>A	ENSP00000248933:p.Ser49*					SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000343706.4_Nonsense_Mutation_p.S49*|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000404234.3_Nonsense_Mutation_p.S49*|SEZ6L_ENST00000248933.6_Nonsense_Mutation_p.S49*|SEZ6L_ENST00000360929.3_Nonsense_Mutation_p.S49*	p.S49*	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN			2	342	+			49					A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Nonsense_Mutation	SNP	ENST00000248933.6	37	c.146C>A	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	C	36	5.600567	0.96614	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706	.	.	.	3.98	0.5	0.16919	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.6447	0.17582	0.0:0.6487:0.1604:0.191	.	.	.	.	X	49	.	ENSP00000248933:S49X	S	+	2	0	SEZ6L	25018423	0.007000	0.16637	0.085000	0.20634	0.139000	0.21198	0.732000	0.26072	0.077000	0.16863	0.508000	0.49915	TCA		0.582	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			31	66	1	0	1.62565e-12	0.760397	1.91826e-12	31	66				
OR5W2	390148	broad.mit.edu	37	11	55681278	55681278	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr11:55681278G>A	ENST00000344514.1	-	1	780	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R261W(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GAACTTGGCCGGAAATACATA	0.443																																					Melanoma(48;171 1190 15239 43886 49348)	ENST00000344514.1																			2	Substitution - Missense(2)	p.R261W(2)	ovary(1)|prostate(1)	breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(781-783)Cgg>Tgg		olfactory receptor, family 5, subfamily W, member 2							80.0	92.0	88.0					11																	55681278		2201	4296	6497	SO:0001583	missense	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681278G>A	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.781C>T	11.37:g.55681278G>A	ENSP00000342448:p.Arg261Trp						p.R261W	NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN			1	780	-			261						Missense_Mutation	SNP	ENST00000344514.1	37	c.781C>T	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104592	0.56291	.	.	ENSG00000187612	ENST00000344514	T	0.37915	1.17	5.01	-7.18	0.01505	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36167	N	0.002753	T	0.34337	0.0894	M	0.83852	2.665	0.09310	N	1	P	0.43024	0.798	P	0.44990	0.466	T	0.17745	-1.0359	10	0.72032	D	0.01	.	3.6052	0.08039	0.1349:0.0833:0.2308:0.5509	.	261	Q8NH69	OR5W2_HUMAN	W	261	ENSP00000342448:R261W	ENSP00000342448:R261W	R	-	1	2	OR5W2	55437854	0.000000	0.05858	0.028000	0.17463	0.903000	0.53119	-1.242000	0.02908	-1.391000	0.02085	0.549000	0.68633	CGG		0.443	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		50	93	0	0	0	0.870114	0	50	93				
ZFHX3	463	broad.mit.edu	37	16	72827588	72827588	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr16:72827588C>T	ENST00000268489.5	-	9	9665	c.8993G>A	c.(8992-8994)cGg>cAg	p.R2998Q	RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.R2084Q	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2998					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R2998Q(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TTCTTTTGCCCGGGCATTCTG	0.463																																						ENST00000268489.5																			1	Substitution - Missense(1)	p.R2998Q(1)	prostate(1)	NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(8992-8994)cGg>cAg		zinc finger homeobox 3							146.0	140.0	142.0					16																	72827588		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72827588C>T	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.8993G>A	16.37:g.72827588C>T	ENSP00000268489:p.Arg2998Gln					ZFHX3_ENST00000397992.5_Missense_Mutation_p.R2084Q	p.R2998Q	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	9665	-		Ovarian(137;0.13)	2998					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.8993G>A	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.641673	0.47153	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	D;D	0.99143	-5.48;-5.48	6.17	6.17	0.99709	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.49305	D	0.000154	D	0.99718	0.9891	H	0.99368	4.535	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97229	0.9883	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	2998	Q15911	ZFHX3_HUMAN	Q	2998;2084	ENSP00000268489:R2998Q;ENSP00000438926:R2084Q	ENSP00000268489:R2998Q	R	-	2	0	ZFHX3	71385089	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CGG		0.463	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		51	220	0	0	0	0.870114	0	51	220				
MYBPC1	4604	broad.mit.edu	37	12	102067275	102067275	+	Missense_Mutation	SNP	G	G	A	rs151310085		TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr12:102067275G>A	ENST00000550270.1	+	24	2663	c.2663G>A	c.(2662-2664)cGc>cAc	p.R888H	MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000360610.2_Missense_Mutation_p.R888H|MYBPC1_ENST00000361685.2_Missense_Mutation_p.R895H|MYBPC1_ENST00000536007.1_Missense_Mutation_p.R851H|MYBPC1_ENST00000547405.1_Missense_Mutation_p.R844H|MYBPC1_ENST00000549145.1_Missense_Mutation_p.R901H|MYBPC1_ENST00000541119.1_Missense_Mutation_p.R858H|MYBPC1_ENST00000551300.1_Missense_Mutation_p.R771H|MYBPC1_ENST00000547509.1_Missense_Mutation_p.R856H|MYBPC1_ENST00000553190.1_Missense_Mutation_p.R870H|MYBPC1_ENST00000392934.3_Missense_Mutation_p.R857H|MYBPC1_ENST00000361466.2_Missense_Mutation_p.R895H|MYBPC1_ENST00000452455.2_Missense_Mutation_p.R888H|MYBPC1_ENST00000441232.1_Missense_Mutation_p.R888H|MYBPC1_ENST00000545503.2_Missense_Mutation_p.R870H			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	888	Ig-like C2-type 6.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.R895H(1)|p.R888H(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ATAAACATTCGCAACTCTGAG	0.383																																						ENST00000549145.1																			2	Substitution - Missense(2)	p.R895H(1)|p.R888H(1)	prostate(2)	breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						c.(2701-2703)cGc>cAc		myosin binding protein C, slow type		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	139.0	149.0	145.0		2684,2684,2663,2609	5.8	1.0	12	dbSNP_134	145	0,8600		0,0,4300	no	missense,missense,missense,missense	MYBPC1	NM_002465.2,NM_206819.1,NM_206820.1,NM_206821.1	29,29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	895/1172,895/1149,888/1142,870/1124	102067275	1,13005	2203	4300	6503	SO:0001583	missense	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102067275G>A		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.2663G>A	12.37:g.102067275G>A	ENSP00000449702:p.Arg888His					MYBPC1_ENST00000452455.2_Missense_Mutation_p.R888H|MYBPC1_ENST00000553190.1_Missense_Mutation_p.R870H|MYBPC1_ENST00000441232.1_Missense_Mutation_p.R888H|MYBPC1_ENST00000551300.1_Missense_Mutation_p.R771H|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000547405.1_Missense_Mutation_p.R844H|MYBPC1_ENST00000550270.1_Missense_Mutation_p.R888H|MYBPC1_ENST00000547509.1_Missense_Mutation_p.R856H|MYBPC1_ENST00000545503.2_Missense_Mutation_p.R870H|MYBPC1_ENST00000541119.1_Missense_Mutation_p.R858H|MYBPC1_ENST00000536007.1_Missense_Mutation_p.R851H|MYBPC1_ENST00000392934.3_Missense_Mutation_p.R857H|MYBPC1_ENST00000361685.2_Missense_Mutation_p.R895H|MYBPC1_ENST00000361466.2_Missense_Mutation_p.R895H|MYBPC1_ENST00000360610.2_Missense_Mutation_p.R888H	p.R901H			Q00872	MYPC1_HUMAN			25	2802	+			888			Ig-like C2-type 6.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	c.2702G>A	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	G	33	5.262920	0.95399	2.27E-4	0.0	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.75	5.75	0.90469	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.50627	D	0.000101	D	0.86977	0.6063	M	0.93062	3.375	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;0.988;1.0;0.999;1.0;0.998;0.999;0.964;0.996	D;D;P;D;D;D;D;D;P;D	0.91635	0.969;0.999;0.906;0.997;0.997;0.997;0.997;0.998;0.629;0.99	D	0.89325	0.3643	10	0.87932	D	0	.	19.9379	0.97147	0.0:0.0:1.0:0.0	.	851;858;888;870;857;844;870;888;895;895	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.	H	844;888;888;888;857;856;895;901;870;870;851;858;895;771;888	ENSP00000448175:R844H;ENSP00000400908:R888H;ENSP00000388989:R888H;ENSP00000353822:R888H;ENSP00000376665:R857H;ENSP00000447362:R856H;ENSP00000354845:R895H;ENSP00000447660:R901H;ENSP00000447900:R870H;ENSP00000440034:R870H;ENSP00000446128:R851H;ENSP00000442847:R858H;ENSP00000354849:R895H;ENSP00000447116:R771H;ENSP00000449702:R888H	ENSP00000353822:R888H	R	+	2	0	MYBPC1	100591406	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.354000	0.97083	2.710000	0.92621	0.555000	0.69702	CGC		0.383	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			49	385	0	0	0	0.870114	0	49	385				
DUSP18	150290	broad.mit.edu	37	22	31059967	31059967	+	Silent	SNP	G	G	A	rs559815332		TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr22:31059967G>A	ENST00000334679.3	-	2	529	c.24C>T	c.(22-24)ttC>ttT	p.F8F	DUSP18_ENST00000404885.1_Silent_p.F8F|DUSP18_ENST00000403268.1_Silent_p.F8F|DUSP18_ENST00000407308.1_Silent_p.F8F|DUSP18_ENST00000461301.1_Intron	NM_152511.3	NP_689724.3	Q8NEJ0	DUS18_HUMAN	dual specificity phosphatase 18	8					peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.F8F(2)		large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						ACTGAACTGGGAAGGCACACG	0.562													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20581	0.0		0.0	False		,,,				2504	0.0					ENST00000403268.1																			2	Substitution - coding silent(2)	p.F8F(2)	prostate(2)	large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						c.(22-24)ttC>ttT		dual specificity phosphatase 18							42.0	40.0	41.0					22																	31059967		2203	4300	6503	SO:0001819	synonymous_variant	0					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:31059967G>A	AF461689	CCDS13883.1	22q12.1	2011-06-09				ENSG00000167065		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	18484	protein-coding gene	gene with protein product		611446				12408986	Standard	NM_152511		Approved	DUSP20	uc003aiw.1	Q8NEJ0		ENST00000334679.3:c.24C>T	22.37:g.31059967G>A						DUSP18_ENST00000407308.1_Silent_p.F8F|DUSP18_ENST00000461301.1_Intron|DUSP18_ENST00000334679.3_Silent_p.F8F|DUSP18_ENST00000404885.1_Silent_p.F8F	p.F8F			Q8NEJ0	DUS18_HUMAN			2	494	-			8					B3KPA4	Silent	SNP	ENST00000334679.3	37	c.24C>T	CCDS13883.1																																																																																				0.562	DUSP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321400.1			16	36	0	0	0	0.500413	0	16	36				
LMAN2L	81562	broad.mit.edu	37	2	97369281	97369281	+	IGR	SNP	G	G	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr2:97369281G>A	ENST00000264963.4	-	0	2397				FER1L5_ENST00000457909.1_RNA	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like						ER to Golgi vesicle-mediated transport (GO:0006888)|protein folding (GO:0006457)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)	p.E1941K(1)		NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						GATGAGCCTGGAGATTCTGTC	0.577																																						ENST00000457909.1																			1	Substitution - Missense(1)	p.E1941K(1)	prostate(1)	NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38								fer-1-like 5 (C. elegans)							58.0	63.0	61.0					2																	97369281		1952	4146	6098	SO:0001628	intergenic_variant	90342					integral to membrane		g.chr2:97369281G>A	AL136617	CCDS2023.1, CCDS46365.1	2q11.1	2008-02-05			ENSG00000114988	ENSG00000114988			19263	protein-coding gene	gene with protein product		609552				12609988	Standard	NM_001142292		Approved	DKFZp564L2423, VIPL	uc002swv.3	Q9H0V9	OTTHUMG00000130453		2.37:g.97369281G>A										A0AVI2	FR1L5_HUMAN			0	5216	+								B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14	RNA	SNP	ENST00000264963.4	37		CCDS2023.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.242315	0.39598	.	.	ENSG00000214272	ENST00000414152;ENST00000436930;ENST00000397978	.	.	.	5.67	5.67	0.87782	.	0.000000	0.45361	U	0.000377	D	0.85292	0.5663	M	0.89095	3.005	.	.	.	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.996;0.998	D	0.87541	0.2459	8	0.87932	D	0	-33.5282	18.547	0.91050	0.0:0.0:1.0:0.0	.	649;1941;650	B7ZLI3;A0AVI2;A0AVI2-2	.;FR1L5_HUMAN;.	K	1941;1945;650	.	ENSP00000442027:E650K	E	+	1	0	FER1L5	96733008	1.000000	0.71417	0.998000	0.56505	0.726000	0.41606	7.607000	0.82883	2.676000	0.91093	0.655000	0.94253	GAG		0.577	LMAN2L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252844.1	NM_030805		7	57	0	0	0	0.248553	0	7	57				
PCDHB14	56122	broad.mit.edu	37	5	140604528	140604528	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr5:140604528C>A	ENST00000239449.4	+	1	1451	c.1451C>A	c.(1450-1452)gCc>gAc	p.A484D	PCDHB14_ENST00000515856.2_Missense_Mutation_p.A331D	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	484	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A484D(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCACCAACGCCCAGGTCAAC	0.642																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			1	Substitution - Missense(1)	p.A484D(1)	prostate(1)	NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(1450-1452)gCc>gAc									102.0	109.0	106.0					5																	140604528		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140604528C>A	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1451C>A	5.37:g.140604528C>A	ENSP00000239449:p.Ala484Asp					PCDHB14_ENST00000515856.2_Missense_Mutation_p.A331D	p.A484D	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1451	+			484			Cadherin 5.		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.1451C>A	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	16.58	3.162558	0.57368	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.54071	0.59;0.59	4.34	4.34	0.51931	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.77850	0.4192	M	0.93507	3.425	0.35858	D	0.827242	D	0.76494	0.999	D	0.73380	0.98	D	0.87170	0.2220	9	0.87932	D	0	.	13.2649	0.60128	0.0:0.788:0.212:0.0	.	484	Q9Y5E9	PCDBE_HUMAN	D	331;484	ENSP00000444518:A331D;ENSP00000239449:A484D	ENSP00000239449:A484D	A	+	2	0	PCDHB14	140584712	0.031000	0.19500	0.993000	0.49108	0.825000	0.46686	0.307000	0.19296	2.157000	0.67596	0.556000	0.70494	GCC		0.642	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		4	122	1	0	0.150653	0.150653	0.167709	4	122				
SPATA31A6	389730	broad.mit.edu	37	9	43626994	43626994	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr9:43626994A>G	ENST00000332857.6	-	4	1721	c.1693T>C	c.(1693-1695)Ttt>Ctt	p.F565L	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	565					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.F565L(1)									GAGACACTAAAGACGTCCTGA	0.488																																						ENST00000332857.6																			1	Substitution - Missense(1)	p.F565L(1)	prostate(1)								c.(1693-1695)Ttt>Ctt		SPATA31 subfamily A, member 6							1.0	1.0	1.0					9																	43626994		222	770	992	SO:0001583	missense	389730							g.chr9:43626994A>G		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1693T>C	9.37:g.43626994A>G	ENSP00000329825:p.Phe565Leu						p.F565L	NM_001145196.1	NP_001138668.1					4	1721	-									Missense_Mutation	SNP	ENST00000332857.6	37	c.1693T>C	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	A	10.08	1.252441	0.22880	.	.	ENSG00000185775	ENST00000332857	T	0.10573	2.86	2.59	-0.05	0.13832	.	1.184600	0.06139	N	0.672114	T	0.09642	0.0237	L	0.53249	1.67	0.09310	N	1	B	0.18863	0.031	B	0.21917	0.037	T	0.43988	-0.9357	10	0.13470	T	0.59	-0.2954	2.3206	0.04209	0.6137:0.0:0.1461:0.2403	.	565	Q5VVP1	F75A6_HUMAN	L	565	ENSP00000329825:F565L	ENSP00000329825:F565L	F	-	1	0	FAM75A6	43566990	0.001000	0.12720	0.000000	0.03702	0.016000	0.09150	1.316000	0.33620	-0.003000	0.14444	0.315000	0.21342	TTT		0.488	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		6	285	0	0	0	0.278610	0	6	285				
REV3L	5980	broad.mit.edu	37	6	111726773	111726773	+	Silent	SNP	C	C	T	rs201104590		TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr6:111726773C>T	ENST00000358835.3	-	5	919	c.465G>A	c.(463-465)gcG>gcA	p.A155A	REV3L_ENST00000435970.1_Silent_p.A77A|REV3L_ENST00000368802.3_Silent_p.A155A|REV3L_ENST00000368805.1_Silent_p.A155A			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	155					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.A77A(1)		NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AGGGAATATGCGCTTCATGAG	0.338								DNA polymerases (catalytic subunits)					C|||	1	0.000199681	0.0	0.0	5008	,	,		12438	0.0		0.001	False		,,,				2504	0.0					ENST00000435970.1																			1	Substitution - coding silent(1)	p.A77A(1)	prostate(1)	NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(229-231)gcG>gcA	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							137.0	145.0	142.0					6																	111726773		2203	4300	6503	SO:0001819	synonymous_variant	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111726773C>T	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.465G>A	6.37:g.111726773C>T						REV3L_ENST00000368802.3_Silent_p.A155A|REV3L_ENST00000358835.3_Silent_p.A155A|REV3L_ENST00000368805.1_Silent_p.A155A	p.A77A			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	6	1047	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	155					O43214|Q5TC33	Silent	SNP	ENST00000358835.3	37	c.231G>A	CCDS5091.2																																																																																				0.338	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		6	343	0	0	0	0.217242	0	6	343				
ENPP3	5169	broad.mit.edu	37	6	132061380	132061380	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr6:132061380G>A	ENST00000414305.1	+	25	2645	c.2317G>A	c.(2317-2319)Gat>Aat	p.D773N	ENPP3_ENST00000357639.3_Missense_Mutation_p.D773N|ENPP3_ENST00000358229.5_3'UTR			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	773	Nuclease.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.D773N(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		AGCCAACACTGATGTTCCCAT	0.388																																						ENST00000414305.1																			1	Substitution - Missense(1)	p.D773N(1)	prostate(1)	NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(2317-2319)Gat>Aat		ectonucleotide pyrophosphatase/phosphodiesterase 3							106.0	91.0	96.0					6																	132061380		2203	4300	6503	SO:0001583	missense	5169				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	g.chr6:132061380G>A	AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.2317G>A	6.37:g.132061380G>A	ENSP00000406261:p.Asp773Asn					ENPP3_ENST00000358229.5_3'UTR|ENPP3_ENST00000357639.3_Missense_Mutation_p.D773N	p.D773N			O14638	ENPP3_HUMAN		GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)	25	2645	+	Breast(56;0.0753)		773			Nuclease.		Q5JTL3	Missense_Mutation	SNP	ENST00000414305.1	37	c.2317G>A	CCDS5148.1	.	.	.	.	.	.	.	.	.	.	G	9.166	1.020031	0.19433	.	.	ENSG00000154269	ENST00000414305;ENST00000357639	T;T	0.69306	-0.39;-0.39	5.23	-0.39	0.12450	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	1.263030	0.04897	N	0.450624	T	0.33702	0.0872	L	0.38531	1.155	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.27839	-1.0062	10	0.40728	T	0.16	-0.504	7.0918	0.25287	0.382:0.3525:0.2654:0.0	.	773	O14638	ENPP3_HUMAN	N	773	ENSP00000406261:D773N;ENSP00000350265:D773N	ENSP00000350265:D773N	D	+	1	0	ENPP3	132103073	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.478000	0.06575	0.007000	0.14760	-0.302000	0.09304	GAT		0.388	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			3	125	0	0	0	0.115264	0	3	125				
SCN7A	6332	broad.mit.edu	37	2	167304172	167304172	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr2:167304172G>T	ENST00000409855.1	-	11	1463	c.1337C>A	c.(1336-1338)aCa>aAa	p.T446K		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	446					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.T446K(3)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TGATGTGTCTGTGGAAATTGG	0.378																																						ENST00000409855.1																			3	Substitution - Missense(3)	p.T446K(3)	prostate(3)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(1336-1338)aCa>aAa		sodium channel, voltage-gated, type VII, alpha subunit							253.0	229.0	237.0					2																	167304172		1857	4098	5955	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167304172G>T	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.1337C>A	2.37:g.167304172G>T	ENSP00000386796:p.Thr446Lys						p.T446K	NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN			11	1463	-			446						Missense_Mutation	SNP	ENST00000409855.1	37	c.1337C>A	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	g	9.496	1.102033	0.20632	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992	D;D	0.96459	-3.99;-4.02	5.13	0.0485	0.14285	.	1.451170	0.03833	N	0.269437	D	0.91563	0.7335	L	0.34521	1.04	0.09310	N	1	B	0.17667	0.023	B	0.15870	0.014	T	0.80462	-0.1372	10	0.34782	T	0.22	.	0.999	0.01473	0.3476:0.1683:0.3209:0.1632	.	446	Q01118	SCN7A_HUMAN	K	446	ENSP00000386796:T446K;ENSP00000413699:T446K	ENSP00000259060:T446K	T	-	2	0	SCN7A	167012418	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	-0.012000	0.12699	0.422000	0.26005	0.586000	0.80456	ACA		0.378	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			45	149	1	0	9.40368e-32	0.870114	1.13228e-31	45	149				
SOHLH1	402381	broad.mit.edu	37	9	138586195	138586195	+	Silent	SNP	C	C	T			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr9:138586195C>T	ENST00000298466.5	-	7	1044	c.984G>A	c.(982-984)gcG>gcA	p.A328A	SOHLH1_ENST00000425225.1_Intron	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	328					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A328A(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		CAGGTGCTTACGCGGGGGGAC	0.647																																						ENST00000298466.5																			1	Substitution - coding silent(1)	p.A328A(1)	prostate(1)	breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12						c.(982-984)gcG>gcA		spermatogenesis and oogenesis specific basic helix-loop-helix 1							46.0	44.0	44.0					9																	138586195		2203	4299	6502	SO:0001819	synonymous_variant	402381				cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr9:138586195C>T	BC031861	CCDS35174.1, CCDS48054.1	9q34.3	2013-05-21	2006-03-16	2006-03-16	ENSG00000165643	ENSG00000165643		"""Basic helix-loop-helix proteins"""	27845	protein-coding gene	gene with protein product	"""spermatogenesis associated 27"""	610224	"""chromosome 9 open reading frame 157"""	C9orf157		12477932	Standard	NM_001012415		Approved	NOHLH, TEB2, bA100C15.3, bHLHe80, SPATA27	uc010nbe.3	Q5JUK2	OTTHUMG00000020915	ENST00000298466.5:c.984G>A	9.37:g.138586195C>T						SOHLH1_ENST00000425225.1_Intron	p.A328A	NM_001012415.2	NP_001012415.2	Q5JUK2	SOLH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)	7	1044	-		Myeloproliferative disorder(178;0.0511)	328					C9JG81|Q5EE14|Q5EGC2|Q8NEE3	Silent	SNP	ENST00000298466.5	37	c.984G>A	CCDS35174.1																																																																																				0.647	SOHLH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055018.2	NM_001012415		11	46	0	0	0	0.361761	0	11	46				
USP15	9958	broad.mit.edu	37	12	62688039	62688039	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr12:62688039G>A	ENST00000280377.5	+	2	227	c.169G>A	c.(169-171)Gat>Aat	p.D57N	USP15_ENST00000393654.3_Missense_Mutation_p.D57N|USP15_ENST00000353364.3_Missense_Mutation_p.D57N|USP15_ENST00000312635.6_Missense_Mutation_p.D57N|USP15_ENST00000550632.1_3'UTR	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	57	DUSP. {ECO:0000255|PROSITE- ProRule:PRU00613}.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.D57N(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		CCAGATGGGAGATCAAAATGT	0.353																																					Melanoma(181;615 2041 39364 49691 50001)	ENST00000280377.5																			2	Substitution - Missense(2)	p.D57N(2)	prostate(2)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(169-171)Gat>Aat		ubiquitin specific peptidase 15							105.0	99.0	102.0					12																	62688039		2203	4300	6503	SO:0001583	missense	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62688039G>A	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.169G>A	12.37:g.62688039G>A	ENSP00000280377:p.Asp57Asn					USP15_ENST00000393654.3_Missense_Mutation_p.D57N|USP15_ENST00000550632.1_3'UTR|USP15_ENST00000353364.3_Missense_Mutation_p.D57N|USP15_ENST00000312635.6_Missense_Mutation_p.D57N	p.D57N	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	2	227	+			57			DUSP.		Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	c.169G>A	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172860	0.78452	.	.	ENSG00000135655	ENST00000353364;ENST00000549523;ENST00000280377;ENST00000312635;ENST00000393654;ENST00000548836	T;T;T	0.19669	2.15;2.13;2.15	6.17	6.17	0.99709	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (3);	0.372347	0.31221	N	0.008035	T	0.21145	0.0509	N	0.14661	0.345	0.80722	D	1	B;B;P;P;B	0.41848	0.037;0.005;0.763;0.72;0.01	B;B;P;B;B	0.46299	0.056;0.022;0.511;0.377;0.012	T	0.01988	-1.1234	9	.	.	.	-14.013	20.8794	0.99867	0.0:0.0:1.0:0.0	.	57;57;57;57;57	B7Z3J0;B4DN46;Q9Y4E8;Q9Y4E8-2;Q9H8G9	.;.;UBP15_HUMAN;.;.	N	57;57;57;57;57;3	ENSP00000258123:D57N;ENSP00000280377:D57N;ENSP00000377264:D57N	.	D	+	1	0	USP15	60974306	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GAT		0.353	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		57	125	0	0	0	0.870114	0	57	125				
DOCK3	1795	broad.mit.edu	37	3	51347719	51347719	+	Silent	SNP	C	C	T			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr3:51347719C>T	ENST00000266037.9	+	28	3002	c.2979C>T	c.(2977-2979)ttC>ttT	p.F993F		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	993					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.F993F(2)|p.F982F(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGAGTGTCTTCCCTCGGGACT	0.463																																						ENST00000266037.9																			3	Substitution - coding silent(3)	p.F993F(2)|p.F982F(1)	prostate(3)	breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(2977-2979)ttC>ttT		dedicator of cytokinesis 3							148.0	139.0	142.0					3																	51347719		1975	4157	6132	SO:0001819	synonymous_variant	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51347719C>T	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.2979C>T	3.37:g.51347719C>T							p.F993F	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	28	3002	+			993					O15017	Silent	SNP	ENST00000266037.9	37	c.2979C>T	CCDS46835.1																																																																																				0.463	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		8	12	0	0	0	0.307466	0	8	12				
ANKRD13C	81573	broad.mit.edu	37	1	70801756	70801756	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr1:70801756T>C	ENST00000370944.4	-	2	770	c.457A>G	c.(457-459)Atg>Gtg	p.M153V	ANKRD13C_ENST00000262346.6_Missense_Mutation_p.M153V	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	153					protein retention in ER lumen (GO:0006621)|regulation of anoikis (GO:2000209)|regulation of receptor biosynthetic process (GO:0010869)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)	p.M153V(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						TTTCCTAACATCACAGCAAGG	0.219																																						ENST00000370944.4																			1	Substitution - Missense(1)	p.M153V(1)	prostate(1)	endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						c.(457-459)Atg>Gtg		ankyrin repeat domain 13C							4.0	4.0	4.0					1																	70801756		1669	3543	5212	SO:0001583	missense	81573				protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding	g.chr1:70801756T>C		CCDS648.2	1p32.3-p31.3	2013-01-10			ENSG00000118454	ENSG00000118454		"""Ankyrin repeat domain containing"""	25374	protein-coding gene	gene with protein product		615125				11230166	Standard	NM_030816		Approved	DKFZP566D1346, dJ677H15.3	uc001dex.4	Q8N6S4	OTTHUMG00000009343	ENST00000370944.4:c.457A>G	1.37:g.70801756T>C	ENSP00000359982:p.Met153Val					ANKRD13C_ENST00000262346.6_Missense_Mutation_p.M153V	p.M153V	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN			2	770	-			153					B3KQ97|Q5VYH4|Q5VYH5|Q6PJE4|Q9H0N9	Missense_Mutation	SNP	ENST00000370944.4	37	c.457A>G	CCDS648.2	.	.	.	.	.	.	.	.	.	.	T	17.13	3.311564	0.60414	.	.	ENSG00000118454	ENST00000370944;ENST00000262346	T;T	0.64085	-0.08;1.43	5.28	5.28	0.74379	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.46444	0.1393	L	0.28115	0.83	0.58432	D	0.999997	P;P	0.50617	0.937;0.885	P;P	0.51297	0.661;0.665	T	0.48875	-0.8996	10	0.35671	T	0.21	.	12.5874	0.56424	0.0:0.0:0.0:1.0	.	153;153	Q8N6S4-2;Q8N6S4	.;AN13C_HUMAN	V	153	ENSP00000359982:M153V;ENSP00000262346:M153V	ENSP00000262346:M153V	M	-	1	0	ANKRD13C	70574344	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.839000	0.62810	1.988000	0.58038	0.379000	0.24179	ATG		0.219	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025903.1	NM_030816		4	18	0	0	0	0.150653	0	4	18				
KLC1	3831	broad.mit.edu	37	14	104124043	104124043	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr14:104124043T>C	ENST00000348520.6	+	3	741	c.422T>C	c.(421-423)cTg>cCg	p.L141P	KLC1_ENST00000557450.1_Missense_Mutation_p.L141P|KLC1_ENST00000445352.4_Missense_Mutation_p.L141P|KLC1_ENST00000246489.7_Missense_Mutation_p.L141P|KLC1_ENST00000334553.6_Missense_Mutation_p.L141P|KLC1_ENST00000347839.6_Missense_Mutation_p.L141P|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.L313P|KLC1_ENST00000452929.2_Missense_Mutation_p.L141P|KLC1_ENST00000557575.1_Missense_Mutation_p.L141P|KLC1_ENST00000380038.3_Missense_Mutation_p.L141P|KLC1_ENST00000553286.1_Missense_Mutation_p.L141P|KLC1_ENST00000389744.4_Missense_Mutation_p.L141P|KLC1_ENST00000555836.1_Missense_Mutation_p.L141P|KLC1_ENST00000554280.1_Missense_Mutation_p.L141P	NM_182923.3	NP_891553.2	Q07866	KLC1_HUMAN	kinesin light chain 1	141					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|stress granule disassembly (GO:0035617)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|growth cone (GO:0030426)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.L141P(1)	KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				GTGGCTCAACTGGAGGAGGAG	0.502																																						ENST00000389744.4																		KLC1/ALK(2)	1	Substitution - Missense(1)	p.L141P(1)	prostate(1)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12						c.(421-423)cTg>cCg		kinesin light chain 1							91.0	78.0	82.0					14																	104124043		2203	4300	6503	SO:0001583	missense	3831				blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	g.chr14:104124043T>C	AF267530	CCDS32165.1, CCDS41996.1, CCDS45168.1	14q32.3	2013-01-10	2007-03-09	2007-03-09	ENSG00000126214	ENSG00000126214		"""Tetratricopeptide (TTC) repeat domain containing"""	6387	protein-coding gene	gene with protein product		600025	"""kinesin 2 60/70kDa"", ""kinesin 2"""	KNS2		8274221, 11106729	Standard	NM_005552		Approved	KNS2A, KLC, hKLC1S, hKLC1N, hKLC1P, hKLC1G, hKLC1R, hKLC1J, hKLC1B	uc010tyf.2	Q07866	OTTHUMG00000169227	ENST00000348520.6:c.422T>C	14.37:g.104124043T>C	ENSP00000341154:p.Leu141Pro					KLC1_ENST00000555836.1_Missense_Mutation_p.L141P|KLC1_ENST00000348520.6_Missense_Mutation_p.L141P|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.L313P|KLC1_ENST00000557450.1_Missense_Mutation_p.L141P|KLC1_ENST00000347839.6_Missense_Mutation_p.L141P|KLC1_ENST00000553286.1_Missense_Mutation_p.L141P|KLC1_ENST00000554280.1_Missense_Mutation_p.L141P|KLC1_ENST00000557575.1_Missense_Mutation_p.L141P|KLC1_ENST00000246489.7_Missense_Mutation_p.L141P|KLC1_ENST00000334553.6_Missense_Mutation_p.L141P|KLC1_ENST00000445352.4_Missense_Mutation_p.L141P|KLC1_ENST00000452929.2_Missense_Mutation_p.L141P|KLC1_ENST00000380038.3_Missense_Mutation_p.L141P	p.L141P			Q07866	KLC1_HUMAN			3	691	+		Melanoma(154;0.155)|all_epithelial(191;0.19)	141					A6NF62|F8VTM4|Q7RTM2|Q7RTM3|Q7RTM5|Q7RTP9|Q7RTQ3|Q7RTQ5|Q7RTQ6|Q86SF5|Q86TF5|Q86V74|Q86V75|Q86V76|Q86V77|Q86V78|Q86V79|Q96H62	Missense_Mutation	SNP	ENST00000348520.6	37	c.422T>C	CCDS41996.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.796007	0.90453	.	.	ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000126214;ENSG00000256500	ENST00000557172;ENST00000348520;ENST00000443396;ENST00000380038;ENST00000389744;ENST00000557575;ENST00000553286;ENST00000347839;ENST00000555836;ENST00000334553;ENST00000246489;ENST00000557450;ENST00000554280;ENST00000452929;ENST00000445352;ENST00000472726	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73	5.49	5.49	0.81192	Rabaptin, GTPase-Rab5 binding (1);	0.000000	0.85682	D	0.000000	D	0.85115	0.5623	M	0.82517	2.595	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.91635	0.999;0.992;0.997;0.998;0.994	D	0.86944	0.2081	10	0.59425	D	0.04	-11.5944	15.8895	0.79286	0.0:0.0:0.0:1.0	.	141;141;313;141;141	F8VTM4;F8W6L3;E7EVH7;Q07866;G5E9S8	.;.;.;KLC1_HUMAN;.	P	141;141;141;141;141;141;141;141;141;141;141;141;141;141;141;313	ENSP00000450786:L141P;ENSP00000341154:L141P;ENSP00000369377:L141P;ENSP00000374394:L141P;ENSP00000450617:L141P;ENSP00000452487:L141P;ENSP00000334618:L141P;ENSP00000452481:L141P;ENSP00000334523:L141P;ENSP00000246489:L141P;ENSP00000450648:L141P;ENSP00000451242:L141P;ENSP00000414982:L141P;ENSP00000412693:L141P;ENSP00000439065:L313P	ENSP00000246489:L141P	L	+	2	0	KLC1;RP11-73M18.2	103193796	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.997000	0.88414	2.207000	0.71202	0.533000	0.62120	CTG		0.502	KLC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402947.2	NM_005552		3	77	0	0	0	0.115264	0	3	77				
PKHD1	5314	broad.mit.edu	37	6	51524058	51524058	+	Silent	SNP	G	G	A	rs562381413		TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr6:51524058G>A	ENST00000371117.3	-	61	11141	c.10866C>T	c.(10864-10866)tgC>tgT	p.C3622C		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3622			C -> Y (in ARPKD). {ECO:0000269|PubMed:12846734}.		cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.C3622C(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCACAGTAGGGCAATTGCGCT	0.458																																						ENST00000371117.3																			1	Substitution - coding silent(1)	p.C3622C(1)	prostate(1)	NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(10864-10866)tgC>tgT		polycystic kidney and hepatic disease 1 (autosomal recessive)							128.0	128.0	128.0					6																	51524058		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51524058G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.10866C>T	6.37:g.51524058G>A							p.C3622C	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			61	11141	-	Lung NSC(77;0.0605)		3622		C -> Y (in ARPKD).			Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.10866C>T	CCDS4935.1																																																																																				0.458	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		62	151	0	0	0	0.870114	0	62	151				
OR4A16	81327	broad.mit.edu	37	11	55110960	55110960	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr11:55110960G>T	ENST00000314721.2	+	1	334	c.284G>T	c.(283-285)tGc>tTc	p.C95F		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C95F(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TTGTCAGCTTGCATGGGTCAG	0.453																																						ENST00000314721.2																			1	Substitution - Missense(1)	p.C95F(1)	prostate(1)	NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						c.(283-285)tGc>tTc		olfactory receptor, family 4, subfamily A, member 16							209.0	192.0	198.0					11																	55110960		2201	4296	6497	SO:0001583	missense	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55110960G>T	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.284G>T	11.37:g.55110960G>T	ENSP00000325128:p.Cys95Phe						p.C95F	NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN			1	334	+			95					Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	c.284G>T	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	g	6.000	0.368437	0.11352	.	.	ENSG00000181961	ENST00000314721	T	0.00547	6.66	2.57	2.57	0.30868	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.02230	0.0069	H	0.99058	4.415	0.34306	D	0.684902	P	0.34909	0.475	B	0.40375	0.327	T	0.00045	-1.2216	9	0.87932	D	0	.	10.8399	0.46708	0.0:0.0:1.0:0.0	.	95	Q8NH70	O4A16_HUMAN	F	95	ENSP00000325128:C95F	ENSP00000325128:C95F	C	+	2	0	OR4A16	54867536	1.000000	0.71417	0.049000	0.19019	0.056000	0.15407	7.945000	0.87732	1.445000	0.47624	0.423000	0.28283	TGC		0.453	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		10	551	1	0	2.17888e-05	0.335167	2.52066e-05	10	551				
PTPRD	5789	broad.mit.edu	37	9	8449746	8449746	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr9:8449746G>A	ENST00000381196.4	-	31	4510	c.3967C>T	c.(3967-3969)Cgc>Tgc	p.R1323C	PTPRD_ENST00000397606.3_Missense_Mutation_p.R902C|PTPRD_ENST00000397611.3_Missense_Mutation_p.R913C|PTPRD_ENST00000397617.3_Missense_Mutation_p.R902C|PTPRD_ENST00000537002.1_Missense_Mutation_p.R913C|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1301C|PTPRD_ENST00000355233.5_Missense_Mutation_p.R917C|PTPRD_ENST00000486161.1_Missense_Mutation_p.R916C|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1310C|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1323C|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1323C	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1323					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R794C(1)|p.R1323C(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AAGTTAAGGCGCCTCAGTTCT	0.463										TSP Lung(15;0.13)																												ENST00000381196.4																			2	Substitution - Missense(2)	p.R794C(1)|p.R1323C(1)	prostate(2)	NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(3967-3969)Cgc>Tgc		protein tyrosine phosphatase, receptor type, D							352.0	317.0	329.0					9																	8449746		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8449746G>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3967C>T	9.37:g.8449746G>A	ENSP00000370593:p.Arg1323Cys	TSP Lung(15;0.13)				PTPRD_ENST00000540109.1_Missense_Mutation_p.R1323C|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1310C|PTPRD_ENST00000537002.1_Missense_Mutation_p.R913C|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1301C|PTPRD_ENST00000486161.1_Missense_Mutation_p.R916C|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1323C|PTPRD_ENST00000397606.3_Missense_Mutation_p.R902C|PTPRD_ENST00000355233.5_Missense_Mutation_p.R917C|PTPRD_ENST00000397611.3_Missense_Mutation_p.R913C|PTPRD_ENST00000397617.3_Missense_Mutation_p.R902C	p.R1323C	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	31	4510	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1323					B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.3967C>T	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113135	0.77210	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.57273	0.47;0.47;0.51;0.56;0.63;0.74;0.5;0.41;0.47;0.62;0.74	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.76449	0.3989	M	0.88979	2.995	0.80722	D	1	D;D;D;D;D;D;B;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.014;0.999;1.0	D;D;D;D;D;D;B;P;D	0.83275	0.973;0.973;0.973;0.973;0.996;0.988;0.004;0.794;0.953	T	0.79813	-0.1645	9	.	.	.	.	14.7505	0.69522	0.0:0.0:0.8554:0.1446	.	902;907;916;917;913;913;1310;1323;1323	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	C	1323;1323;1310;1301;917;902;913;913;794;1323;916;902	ENSP00000370593:R1323C;ENSP00000348812:R1323C;ENSP00000353187:R1310C;ENSP00000351293:R1301C;ENSP00000347373:R917C;ENSP00000380741:R902C;ENSP00000380735:R913C;ENSP00000440515:R913C;ENSP00000438164:R1323C;ENSP00000417093:R916C;ENSP00000380731:R902C	.	R	-	1	0	PTPRD	8439746	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.797000	0.69087	2.788000	0.95919	0.650000	0.86243	CGC		0.463	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			7	291	0	0	0	0.248553	0	7	291				
MTNR1A	4543	broad.mit.edu	37	4	187455565	187455565	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr4:187455565C>T	ENST00000307161.5	-	2	532	c.331G>A	c.(331-333)Gtc>Atc	p.V111I	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	111					circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|mating behavior (GO:0007617)|positive regulation of cGMP biosynthetic process (GO:0030828)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	hormone binding (GO:0042562)|melatonin receptor activity (GO:0008502)|organic cyclic compound binding (GO:0097159)	p.V111I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	GAGCCGATGACGCTCAGGCCC	0.517																																						ENST00000307161.5																			1	Substitution - Missense(1)	p.V111I(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14						c.(331-333)Gtc>Atc		melatonin receptor 1A	Melatonin(DB01065)|Ramelteon(DB00980)						135.0	110.0	118.0					4																	187455565		2203	4300	6503	SO:0001583	missense	4543				circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity	g.chr4:187455565C>T		CCDS3848.1	4q35	2012-08-08				ENSG00000168412		"""GPCR / Class A : Melatonin receptors"""	7463	protein-coding gene	gene with protein product		600665				7558006	Standard	NM_005958		Approved	MEL-1A-R	uc003izd.1	P48039		ENST00000307161.5:c.331G>A	4.37:g.187455565C>T	ENSP00000302811:p.Val111Ile					RP11-215A19.2_ENST00000509111.1_Intron	p.V111I	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	2	532	-		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)	111					A0AVC5|B0M0L2	Missense_Mutation	SNP	ENST00000307161.5	37	c.331G>A	CCDS3848.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545680	0.86022	.	.	ENSG00000168412	ENST00000307161	T	0.72394	-0.65	5.3	5.3	0.74995	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.84460	0.5477	M	0.75264	2.295	0.58432	D	0.999997	D	0.89917	1.0	D	0.76575	0.988	D	0.86200	0.1618	10	0.87932	D	0	-31.9384	18.959	0.92670	0.0:1.0:0.0:0.0	.	111	P48039	MTR1A_HUMAN	I	111	ENSP00000302811:V111I	ENSP00000302811:V111I	V	-	1	0	MTNR1A	187692559	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	7.670000	0.83925	2.483000	0.83821	0.655000	0.94253	GTC		0.517	MTNR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360189.1			15	92	0	0	0	0.479597	0	15	92				
OR9Q2	219957	broad.mit.edu	37	11	57957991	57957991	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr11:57957991C>T	ENST00000311591.3	+	1	86	c.29C>T	c.(28-30)aCg>aTg	p.T10M		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T10M(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				ACCGTAGTGACGGAGTTCTTC	0.463																																						ENST00000311591.3																			1	Substitution - Missense(1)	p.T10M(1)	prostate(1)	breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(28-30)aCg>aTg		olfactory receptor, family 9, subfamily Q, member 2							117.0	109.0	111.0					11																	57957991		2201	4296	6497	SO:0001583	missense	219957				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57957991C>T	AB065859	CCDS31544.1	11q12.1	2012-08-09		2004-03-10	ENSG00000186513	ENSG00000186513		"""GPCR / Class A : Olfactory receptors"""	15328	protein-coding gene	gene with protein product				OR9Q2P			Standard	NM_001005283		Approved		uc010rka.2	Q8NGE9	OTTHUMG00000167414	ENST00000311591.3:c.29C>T	11.37:g.57957991C>T	ENSP00000308714:p.Thr10Met						p.T10M	NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN			1	86	+		Breast(21;0.0589)	10						Missense_Mutation	SNP	ENST00000311591.3	37	c.29C>T	CCDS31544.1	.	.	.	.	.	.	.	.	.	.	C	10.01	1.233941	0.22626	.	.	ENSG00000186513	ENST00000311591	T	0.02216	4.39	5.43	4.51	0.55191	.	0.312029	0.23556	N	0.046917	T	0.03695	0.0105	M	0.72118	2.19	0.29134	N	0.879461	B	0.33073	0.396	B	0.21917	0.037	T	0.06110	-1.0845	10	0.72032	D	0.01	-9.3117	12.7037	0.57049	0.0:0.9192:0.0:0.0808	.	10	Q8NGE9	OR9Q2_HUMAN	M	10	ENSP00000308714:T10M	ENSP00000308714:T10M	T	+	2	0	OR9Q2	57714567	0.000000	0.05858	0.964000	0.40570	0.240000	0.25518	0.013000	0.13310	2.708000	0.92522	0.655000	0.94253	ACG		0.463	OR9Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394540.1	NM_001005283		12	156	0	0	0	0.457914	0	12	156				
SP4	6671	broad.mit.edu	37	7	21469876	21469876	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr7:21469876C>G	ENST00000222584.3	+	3	1311	c.1093C>G	c.(1093-1095)Cct>Gct	p.P365A		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	365					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.P365A(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						ATCTCAAACACCTGCTGCTAC	0.468																																						ENST00000222584.3																			1	Substitution - Missense(1)	p.P365A(1)	prostate(1)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1093-1095)Cct>Gct		Sp4 transcription factor							90.0	78.0	82.0					7																	21469876		2203	4300	6503	SO:0001583	missense	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21469876C>G		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.1093C>G	7.37:g.21469876C>G	ENSP00000222584:p.Pro365Ala						p.P365A	NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN			3	1311	+			365					O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	37	c.1093C>G	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	C	8.854	0.945285	0.18356	.	.	ENSG00000105866	ENST00000222584	T	0.08634	3.07	4.85	4.85	0.62838	.	0.000000	0.49916	D	0.000127	T	0.06096	0.0158	N	0.24115	0.695	0.44843	D	0.997856	B	0.24132	0.098	B	0.23419	0.046	T	0.34875	-0.9811	10	0.35671	T	0.21	.	8.9621	0.35854	0.0:0.9016:0.0:0.0984	.	365	Q02446	SP4_HUMAN	A	365	ENSP00000222584:P365A	ENSP00000222584:P365A	P	+	1	0	SP4	21436401	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.314000	0.43743	2.512000	0.84698	0.591000	0.81541	CCT		0.468	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		8	144	0	0	0	0.278610	0	8	144				
ACE	1636	broad.mit.edu	37	17	61557835	61557835	+	Missense_Mutation	SNP	C	C	G	rs138873311	byFrequency	TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr17:61557835C>G	ENST00000290866.4	+	5	817	c.793C>G	c.(793-795)Cga>Gga	p.R265G	ACE_ENST00000584529.1_3'UTR|ACE_ENST00000538928.1_Missense_Mutation_p.R265G|ACE_ENST00000428043.1_Missense_Mutation_p.R265G	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	265	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)	p.R265G(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	ACTGCATCGCCGATACGGAGA	0.602																																						ENST00000290866.4																			1	Substitution - Missense(1)	p.R265G(1)	prostate(1)	autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(793-795)Cga>Gga		angiotensin I converting enzyme	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						165.0	144.0	151.0					17																	61557835		2203	4300	6503	SO:0001583	missense	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61557835C>G	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.793C>G	17.37:g.61557835C>G	ENSP00000290866:p.Arg265Gly					ACE_ENST00000538928.1_Missense_Mutation_p.R265G|ACE_ENST00000428043.1_Missense_Mutation_p.R265G|ACE_ENST00000584529.1_3'UTR	p.R265G	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN			5	817	+			265			Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.793C>G	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.190150	0.38707	.	.	ENSG00000159640	ENST00000538928;ENST00000290866;ENST00000428043	T;T;T	0.37058	1.22;1.22;1.22	4.02	3.02	0.34903	.	0.292787	0.34067	N	0.004289	T	0.56062	0.1960	M	0.83223	2.63	0.80722	D	1	D;P;D	0.63880	0.983;0.887;0.993	P;B;D	0.63957	0.655;0.378;0.92	T	0.57505	-0.7800	10	0.28530	T	0.3	-1.8898	11.9798	0.53113	0.0:0.9134:0.0:0.0866	.	265;265;265	F5H1K1;P12821-2;P12821	.;.;ACE_HUMAN	G	265	ENSP00000439591:R265G;ENSP00000290866:R265G;ENSP00000397593:R265G	ENSP00000290866:R265G	R	+	1	2	ACE	58911567	0.075000	0.21258	0.968000	0.41197	0.226000	0.24999	3.013000	0.49582	2.074000	0.62210	0.555000	0.69702	CGA		0.602	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			65	96	0	0	0	0.870114	0	65	96				
GARS	2617	broad.mit.edu	37	7	30661990	30661992	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr7:30661990_30661992delAAG	ENST00000389266.3	+	12	1766_1768	c.1525_1527delAAG	c.(1525-1527)aagdel	p.K510del		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	510					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TAAGGCATATAAGAAGGATGCAA	0.404																																						ENST00000389266.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24						c.(1525-1527)del		glycyl-tRNA synthetase	Glycine(DB00145)																																			SO:0001651	inframe_deletion	2617				cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity	g.chr7:30661990_30661992delAAG	AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"""Aminoacyl tRNA synthetases / Class II"""	4162	protein-coding gene	gene with protein product	"""glycine tRNA ligase"""	600287	"""Charcot-Marie-Tooth neuropathy 2D"""	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.1525_1527delAAG	7.37:g.30661993_30661995delAAG	ENSP00000373918:p.Lys510del						p.K510del	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN			12	1766_1768	+			510					B3KQA2|B4DIA0|Q969Y1	In_Frame_Del	DEL	ENST00000389266.3	37	c.1525_1527delAAG	CCDS43564.1																																																																																				0.404	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		8	322						8	322	---	---	---	---
GLI3	2737	broad.mit.edu	37	7	42262830	42262830	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr7:42262830G>C	ENST00000395925.3	-	2	107	c.23C>G	c.(22-24)tCc>tGc	p.S8C	GLI3_ENST00000437480.1_Missense_Mutation_p.S8C	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	8					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S8C(2)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AGTGGTCGTGGAGCTGTGGGA	0.453									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			2	Substitution - Missense(2)	p.S8C(2)	prostate(2)	NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(22-24)tCc>tGc		GLI family zinc finger 3							139.0	127.0	131.0					7																	42262830		2203	4300	6503	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42262830G>C		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.23C>G	7.37:g.42262830G>C	ENSP00000379258:p.Ser8Cys					GLI3_ENST00000437480.1_Missense_Mutation_p.S8C	p.S8C	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			2	107	-			8					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.23C>G	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852520	0.91355	.	.	ENSG00000106571	ENST00000395925;ENST00000448703;ENST00000437480	T	0.19105	2.17	6.17	6.17	0.99709	.	0.241832	0.40469	N	0.001089	T	0.29945	0.0749	N	0.24115	0.695	0.58432	D	0.999999	D	0.62365	0.991	P	0.54401	0.751	T	0.01149	-1.1436	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	8	P10071	GLI3_HUMAN	C	8	ENSP00000379258:S8C	ENSP00000379258:S8C	S	-	2	0	GLI3	42229355	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.270000	0.72563	2.941000	0.99782	0.655000	0.94253	TCC		0.453	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		11	161	0	0	0	0.361761	0	11	161				
MYEOV	26579	broad.mit.edu	37	11	69063421	69063425	+	Frame_Shift_Del	DEL	CTTTA	CTTTA	-	rs527553012		TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr11:69063421_69063425delCTTTA	ENST00000308946.3	+	3	954_958	c.504_508delCTTTA	c.(502-510)gcctttagafs	p.FR169fs	MYEOV_ENST00000441339.2_Frame_Shift_Del_p.FR169fs|MYEOV_ENST00000535407.1_Frame_Shift_Del_p.FR111fs	NM_138768.2	NP_620123.2	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	169										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		TGGGAGAAGCCTTTAGAGTGGGCGT	0.585																																						ENST00000535407.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(328-336)gcgafs		myeloma overexpressed																																				SO:0001589	frameshift_variant	26579							g.chr11:69063421_69063425delCTTTA	AJ223366	CCDS8190.1, CCDS73340.1	11q13.2	2013-03-27	2013-03-27			ENSG00000172927			7563	protein-coding gene	gene with protein product		605625	"""myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas)"""			10753852	Standard	XM_005273908		Approved	OCIM	uc001oov.3	Q96EZ4		ENST00000308946.3:c.504_508delCTTTA	11.37:g.69063421_69063425delCTTTA	ENSP00000308330:p.Phe169fs					MYEOV_ENST00000308946.3_Frame_Shift_Del_p.AFR168fs|MYEOV_ENST00000441339.2_Frame_Shift_Del_p.AFR168fs	p.AFR110fs			Q96EZ4	MYEOV_HUMAN	LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)	2	973_977	+	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		168					Q9UGN6|Q9UGN7	Frame_Shift_Del	DEL	ENST00000308946.3	37	c.330_334delCTTTA	CCDS8190.1																																																																																				0.585	MYEOV-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396548.1			90	356						90	356	---	---	---	---
LOC101928823	101928823	broad.mit.edu	37	11	112332120	112332121	+	lincRNA	INS	-	-	T	rs545871933|rs111710457	byFrequency	TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr11:112332120_112332121insT	ENST00000528496.1	+	0	231																											CTGATTTTATGTTTTTTTTTTT	0.376																																						ENST00000528496.1																			0																																																			0							g.chr11:112332120_112332121insT																													11.37:g.112332131_112332131dupT														0	231	+									RNA	INS	ENST00000528496.1	37																																																																																						0.376	RP11-65M17.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000393672.1			2	4						2	4	---	---	---	---
PPP5C	5536	broad.mit.edu	37	19	46850390	46850400	+	Frame_Shift_Del	DEL	GAGCCCCCCCG	GAGCCCCCCCG	-	rs376984861|rs150667064	byFrequency	TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr19:46850390_46850400delGAGCCCCCCCG	ENST00000012443.4	+	1	140_150	c.37_47delGAGCCCCCCCG	c.(37-48)gagcccccccggfs	p.EPPR13fs	PPP5C_ENST00000391919.1_5'UTR	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	13					cell death (GO:0008219)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein dephosphorylation (GO:0006470)|protein heterooligomerization (GO:0051291)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|RNA binding (GO:0003723)|signal transducer activity (GO:0004871)	p.R16fs*7(1)|p.P14H(1)		endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		TGAGTGTGCTGAGCCCCCCCGGGACGAACCC	0.687											OREG0025570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000012443.4																			2	Substitution - Missense(1)|Insertion - Frameshift(1)	p.R16fs*7(1)|p.P14H(1)	ovary(1)|endometrium(1)	endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18						c.(37-48)gfs		protein phosphatase 5, catalytic subunit																																				SO:0001589	frameshift_variant	5536				mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity	g.chr19:46850390_46850400delGAGCCCCCCCG		CCDS12684.1	19q13.3	2013-01-10			ENSG00000011485	ENSG00000011485	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	9322	protein-coding gene	gene with protein product		600658		PPP5		8666404	Standard	NM_006247		Approved	PP5	uc002pem.3	P53041	OTTHUMG00000134287	ENST00000012443.4:c.37_47delGAGCCCCCCCG	19.37:g.46850390_46850400delGAGCCCCCCCG	ENSP00000012443:p.Glu13fs		OREG0025570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	942	PPP5C_ENST00000391919.1_5'UTR	p.EPPR13fs	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)	1	140_150	+		Ovarian(192;0.0731)|all_neural(266;0.196)	13					Q16722|Q53XV2	Frame_Shift_Del	DEL	ENST00000012443.4	37	c.37_47delGAGCCCCCCCG	CCDS12684.1																																																																																				0.687	PPP5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258969.2	NM_006247		7	9						7	9	---	---	---	---
TPTEP1	387590	broad.mit.edu	37	22	17131536	17131537	+	lincRNA	INS	-	-	CTG	rs34452519|rs145731851	byFrequency	TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr22:17131536_17131537insCTG	ENST00000426585.1	+	0	2562_2563									transmembrane phosphatase with tensin homology pseudogene 1																		TGCCCACTCTTCTGGTCTCATG	0.54														912	0.182109	0.0265	0.0865	5008	,	,		18499	0.2569		0.2256	False		,,,				2504	0.3384					ENST00000426585.1																			0																																																			0							g.chr22:17131536_17131537insCTG			22q11.1	2013-10-15			ENSG00000100181	ENSG00000100181			43648	pseudogene	pseudogene						14659893	Standard	NR_001591		Approved	psiTPTE22	uc002zlr.3		OTTHUMG00000141300		22.37:g.17131537_17131539dupCTG														0	2562_2563	+									RNA	INS	ENST00000426585.1	37																																																																																						0.540	TPTEP1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000280575.1	NR_001591		2	4						2	4	---	---	---	---
