#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
CASZ1	54897	broad.mit.edu	37	1	10699777	10699777	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr1:10699777C>T	ENST00000377022.3	-	21	4819	c.4502G>A	c.(4501-4503)tGc>tAc	p.C1501Y	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1501				C -> R (in Ref. 2; ABB29845). {ECO:0000305}.	multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGCGAAGTGGCAGCTGAGTGA	0.657																																						uc001aro.2																			0				skin(1)	1						c.(4501-4503)TGC>TAC		castor homolog 1, zinc finger isoform a							28.0	44.0	39.0					1																	10699777		2175	4277	6452	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10699777C>T	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.4502G>A	1.37:g.10699777C>T	ENSP00000366221:p.Cys1501Tyr						p.C1501Y	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	21	4822	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	1501	C -> R (in Ref. 2; ABB29845).				Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.4502G>A	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.713556	0.89112	.	.	ENSG00000130940	ENST00000377022	.	.	.	4.86	4.86	0.63082	.	0.000000	0.49916	U	0.000122	T	0.78368	0.4272	M	0.68317	2.08	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	T	0.81333	-0.0980	9	0.87932	D	0	-17.4081	17.9835	0.89148	0.0:1.0:0.0:0.0	.	1501	Q86V15	CASZ1_HUMAN	Y	1501	.	ENSP00000366221:C1501Y	C	-	2	0	CASZ1	10622364	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.701000	0.84566	2.256000	0.74724	0.460000	0.39030	TGC		0.657	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766	
NCDN	23154	broad.mit.edu	37	1	36026428	36026431	+	Frame_Shift_Del	DEL	AGTG	AGTG	-			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr1:36026428_36026431delAGTG	ENST00000373243.2	+	3	1059_1062	c.676_679delAGTG	c.(676-681)agtgagfs	p.SE226fs	NCDN_ENST00000459931.1_3'UTR|NCDN_ENST00000373253.3_Frame_Shift_Del_p.SE209fs|NCDN_ENST00000356090.4_Frame_Shift_Del_p.SE226fs	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	226					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCGGGGCCTCAGTGAGGATTTCCA	0.642																																						uc001bza.2																			0				large_intestine(2)|pancreas(1)	3						c.(676-681)AGTGAGfs		neurochondrin isoform 1																																				SO:0001589	frameshift_variant	23154				neuron projection development	cytosol|dendrite|neuronal cell body		g.chr1:36026428_36026431delAGTG	AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.676_679delAGTG	1.37:g.36026428_36026431delAGTG	ENSP00000362340:p.Ser226fs					KIAA0319L_uc010ohw.1_5'Flank|NCDN_uc001bzb.2_Frame_Shift_Del_p.S226fs|NCDN_uc001bzc.2_Frame_Shift_Del_p.S209fs	p.S226fs	NM_001014839	NP_001014839	Q9UBB6	NCDN_HUMAN			4	803_806	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	226_227					D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Frame_Shift_Del	DEL	ENST00000373243.2	37	c.676_679delAGTG	CCDS392.1																																																																																				0.642	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	NM_014284	
TOE1	114034	broad.mit.edu	37	1	45807217	45807217	+	Silent	SNP	C	C	G			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr1:45807217C>G	ENST00000372090.5	+	4	892	c.309C>G	c.(307-309)gcC>gcG	p.A103A	MUTYH_ENST00000372098.3_5'Flank|MUTYH_ENST00000529984.1_5'Flank|MUTYH_ENST00000531105.1_5'Flank|MUTYH_ENST00000372104.1_5'Flank|MUTYH_ENST00000355498.2_5'Flank|TOE1_ENST00000495703.1_3'UTR|MUTYH_ENST00000354383.6_5'Flank|MUTYH_ENST00000450313.1_5'Flank|MUTYH_ENST00000372110.3_5'Flank|TESK2_ENST00000486676.1_5'Flank|MUTYH_ENST00000372115.3_5'Flank|MUTYH_ENST00000488731.2_5'Flank|MUTYH_ENST00000528013.2_5'Flank|TOE1_ENST00000539779.1_Intron|MUTYH_ENST00000448481.1_5'Flank|MUTYH_ENST00000456914.2_5'Flank|MUTYH_ENST00000372100.5_5'Flank|MUTYH_ENST00000528332.2_5'Flank	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	103						nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					TGGGCCTCGCCTGCTTCAAGC	0.562																																						uc009vxq.2																			0				central_nervous_system(1)	1						c.(307-309)GCC>GCG		target of EGR1, member 1 (nuclear)							59.0	57.0	58.0					1																	45807217		2203	4300	6503	SO:0001819	synonymous_variant	114034					nuclear speck|nucleolus	nucleic acid binding|zinc ion binding	g.chr1:45807217C>G		CCDS521.1	1p33	2011-02-03			ENSG00000132773	ENSG00000132773			15954	protein-coding gene	gene with protein product		613931				12562764	Standard	NM_025077		Approved		uc009vxq.3	Q96GM8	OTTHUMG00000007678	ENST00000372090.5:c.309C>G	1.37:g.45807217C>G						MUTYH_uc001cnf.2_5'Flank|MUTYH_uc009vxo.2_5'Flank|MUTYH_uc001cng.2_5'Flank|MUTYH_uc001cnj.2_5'Flank|MUTYH_uc001cni.2_5'Flank|MUTYH_uc001cnh.2_5'Flank|MUTYH_uc001cno.2_5'Flank|MUTYH_uc001cnk.2_5'Flank|MUTYH_uc010oll.1_5'Flank|MUTYH_uc001cnm.2_5'Flank|MUTYH_uc001cnl.2_5'Flank|MUTYH_uc009vxp.2_5'Flank|MUTYH_uc001cnn.2_5'Flank|TOE1_uc001cnq.3_RNA|TOE1_uc010olm.1_Intron|TOE1_uc010oln.1_Silent_p.A109A|TOE1_uc001cnr.3_RNA	p.A103A	NM_025077	NP_079353	Q96GM8	TOE1_HUMAN			4	892	+	Acute lymphoblastic leukemia(166;0.155)		103					B4DEM6|Q6IA35|Q8IWN5|Q9H846	Silent	SNP	ENST00000372090.5	37	c.309C>G	CCDS521.1																																																																																				0.562	TOE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020517.1	NM_025077	
MCOLN3	55283	broad.mit.edu	37	1	85491656	85491656	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr1:85491656A>G	ENST00000370589.2	-	9	1113	c.1061T>C	c.(1060-1062)aTt>aCt	p.I354T	MCOLN3_ENST00000474447.1_5'Flank|MCOLN3_ENST00000341115.4_Missense_Mutation_p.I298T|MCOLN3_ENST00000370587.1_3'UTR|WDR63_ENST00000370596.1_Intron	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	354					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		AATTGATCCAATGATTGTCAA	0.303																																						uc001dkp.2																			0				skin(1)	1						c.(1060-1062)ATT>ACT		mucolipin 3							52.0	51.0	51.0					1																	85491656		2201	4299	6500	SO:0001583	missense	55283					integral to membrane	ion channel activity	g.chr1:85491656A>G	AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.1061T>C	1.37:g.85491656A>G	ENSP00000359621:p.Ile354Thr					MCOLN3_uc001dko.2_5'Flank|MCOLN3_uc001dkq.2_Missense_Mutation_p.I298T|MCOLN3_uc001dkr.2_3'UTR|MCOLN3_uc001dks.3_Missense_Mutation_p.I199T	p.I354T	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN		all cancers(265;0.00957)|Epithelial(280;0.0254)	9	1154	-			354			Helical; (Potential).		Q5T4H5|Q5T4H6|Q9NV09	Missense_Mutation	SNP	ENST00000370589.2	37	c.1061T>C	CCDS701.1	.	.	.	.	.	.	.	.	.	.	A	8.756	0.922462	0.17982	.	.	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115	D;D	0.84873	-1.91;-1.79	6.16	1.11	0.20524	.	0.626617	0.18735	N	0.132615	T	0.56572	0.1994	L	0.33624	1.015	0.30827	N	0.737123	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.0	T	0.30679	-0.9970	10	0.30078	T	0.28	-10.9167	6.5058	0.22194	0.6253:0.2419:0.1327:0.0	.	354;298;354	A8K841;Q8TDD5-2;Q8TDD5	.;.;MCLN3_HUMAN	T	354;354;298;298	ENSP00000359621:I354T;ENSP00000342698:I298T	ENSP00000304843:I354T	I	-	2	0	MCOLN3	85264244	0.309000	0.24518	0.979000	0.43373	0.891000	0.51852	0.567000	0.23608	-0.052000	0.13311	0.528000	0.53228	ATT		0.303	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298	
HFM1	164045	broad.mit.edu	37	1	91739356	91739356	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr1:91739356T>C	ENST00000370425.3	-	34	3783	c.3685A>G	c.(3685-3687)Ata>Gta	p.I1229V	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.I908V|HFM1_ENST00000294696.5_Missense_Mutation_p.I461V	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1229					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AATTCAGATATGTTTAAATAT	0.284																																						uc001doa.3																			0					0						c.(3685-3687)ATA>GTA		HFM1 protein							99.0	91.0	94.0					1																	91739356		2203	4299	6502	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91739356T>C	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.3685A>G	1.37:g.91739356T>C	ENSP00000359454:p.Ile1229Val					HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.I908V|HFM1_uc001dob.3_Missense_Mutation_p.I417V|HFM1_uc010osv.1_Missense_Mutation_p.I913V	p.I1229V	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	34	3785	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	1229					B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.3685A>G	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	T	0.059	-1.229745	0.01518	.	.	ENSG00000162669	ENST00000370425;ENST00000294696;ENST00000370424	T;T;T	0.63417	0.33;0.69;-0.04	5.84	0.598	0.17512	.	1.194200	0.05990	N	0.645909	T	0.30355	0.0762	L	0.53249	1.67	0.09310	N	1	B;B;B	0.20671	0.047;0.004;0.022	B;B;B	0.22152	0.038;0.004;0.016	T	0.13602	-1.0503	10	0.27082	T	0.32	.	3.2925	0.06954	0.2894:0.1619:0.0:0.5487	.	908;440;1229	A6NGI5;B1B0B5;A2PYH4	.;.;HFM1_HUMAN	V	1229;461;908	ENSP00000359454:I1229V;ENSP00000294696:I461V;ENSP00000359453:I908V	ENSP00000294696:I461V	I	-	1	0	HFM1	91511944	0.005000	0.15991	0.011000	0.14972	0.015000	0.08874	0.360000	0.20250	-0.150000	0.11195	-0.290000	0.09829	ATA		0.284	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975	
DPYD	1806	broad.mit.edu	37	1	97847978	97847978	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr1:97847978C>A	ENST00000370192.3	-	15	2045	c.1945G>T	c.(1945-1947)Gac>Tac	p.D649Y		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	649					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TCCGTCCAGTCATTTTTATTG	0.279																																						uc001drv.2																			0				ovary(3)|skin(3)|breast(2)	8						c.(1945-1947)GAC>TAC		dihydropyrimidine dehydrogenase isoform 1	Capecitabine(DB01101)|Enfuvirtide(DB00109)						51.0	51.0	51.0					1																	97847978		2202	4292	6494	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:97847978C>A	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.1945G>T	1.37:g.97847978C>A	ENSP00000359211:p.Asp649Tyr						p.D649Y	NM_000110	NP_000101	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	15	2082	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	649					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.1945G>T	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.283848	0.59867	.	.	ENSG00000188641	ENST00000370192	D	0.90261	-2.64	5.62	5.62	0.85841	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.97210	0.9088	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98115	1.0422	10	0.87932	D	0	-21.6651	19.6689	0.95903	0.0:1.0:0.0:0.0	.	649	Q12882	DPYD_HUMAN	Y	649	ENSP00000359211:D649Y	ENSP00000359211:D649Y	D	-	1	0	DPYD	97620566	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	6.686000	0.74548	2.642000	0.89623	0.655000	0.94253	GAC		0.279	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110	
RORC	6097	broad.mit.edu	37	1	151787517	151787517	+	Missense_Mutation	SNP	C	C	T	rs200978307		TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr1:151787517C>T	ENST00000318247.6	-	5	790	c.683G>A	c.(682-684)cGa>cAa	p.R228Q	RORC_ENST00000480719.1_5'Flank|RORC_ENST00000392697.3_Missense_Mutation_p.R282Q|RORC_ENST00000356728.6_Missense_Mutation_p.R207Q	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	228	Hinge. {ECO:0000255}.				adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAGTCCACATCGGTCAGGGGT	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		20620	0.001		0.0	False		,,,				2504	0.0					uc001ezh.2																			0				ovary(1)|skin(1)	2						c.(682-684)CGA>CAA		RAR-related orphan receptor C isoform a							67.0	60.0	62.0					1																	151787517		2203	4300	6503	SO:0001583	missense	6097				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:151787517C>T	U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"""Nuclear hormone receptors"""	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.683G>A	1.37:g.151787517C>T	ENSP00000327025:p.Arg228Gln					RORC_uc001ezg.2_Missense_Mutation_p.R207Q|RORC_uc010pdo.1_Missense_Mutation_p.R282Q|RORC_uc010pdp.1_Missense_Mutation_p.R228Q	p.R228Q	NM_005060	NP_005051	P51449	RORG_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		5	791	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		228			Hinge (Potential).		Q5SZR9|Q8N5V7|Q8NCY8	Missense_Mutation	SNP	ENST00000318247.6	37	c.683G>A	CCDS1004.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.214214	0.00289	.	.	ENSG00000143365	ENST00000356728;ENST00000392697;ENST00000318247	D;D;D	0.93906	-3.29;-3.31;-3.29	4.45	1.52	0.23074	.	0.289710	0.30269	U	0.010014	T	0.60830	0.2299	N	0.16130	0.375	0.09310	N	1	B;B;B;B	0.12630	0.003;0.006;0.0;0.0	B;B;B;B	0.06405	0.002;0.002;0.0;0.0	T	0.58381	-0.7646	10	0.02654	T	1	.	1.4817	0.02438	0.176:0.4663:0.1704:0.1872	.	228;282;228;207	B6ZGS6;B4DPR1;P51449;F1D8P6	.;.;RORG_HUMAN;.	Q	207;282;228	ENSP00000349164:R207Q;ENSP00000376461:R282Q;ENSP00000327025:R228Q	ENSP00000327025:R228Q	R	-	2	0	RORC	150054141	0.002000	0.14202	0.023000	0.16930	0.062000	0.15995	0.023000	0.13533	0.136000	0.18733	-0.261000	0.10672	CGA		0.612	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036626.1		
NTRK1	4914	broad.mit.edu	37	1	156849919	156849919	+	Silent	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr1:156849919G>A	ENST00000524377.1	+	16	2216	c.2175G>A	c.(2173-2175)aaG>aaA	p.K725K	NTRK1_ENST00000358660.3_Silent_p.K722K|NTRK1_ENST00000531606.1_3'UTR|NTRK1_ENST00000392302.2_Silent_p.K689K|NTRK1_ENST00000368196.3_Silent_p.K719K	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	725	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	CCTACGGCAAGCAGCCCTGGT	0.632			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																												uc001fqh.1				Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	TPM3|TPR|TFG		papillary thyroid		0				lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17						c.(2173-2175)AAG>AAA		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						88.0	80.0	83.0					1																	156849919		2203	4300	6503	SO:0001819	synonymous_variant	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156849919G>A	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.2175G>A	1.37:g.156849919G>A		TSP Lung(10;0.080)				NTRK1_uc001fqf.1_Silent_p.K689K|NTRK1_uc009wsi.1_Silent_p.K424K|NTRK1_uc001fqi.1_Silent_p.K719K|NTRK1_uc009wsk.1_Silent_p.K722K	p.K725K	NM_002529	NP_002520	P04629	NTRK1_HUMAN			16	2231	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		725			Cytoplasmic (Potential).|Protein kinase.		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Silent	SNP	ENST00000524377.1	37	c.2175G>A	CCDS1161.1																																																																																				0.632	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529	
DEDD	9191	broad.mit.edu	37	1	161094314	161094314	+	De_novo_Start_InFrame	SNP	G	G	A	rs569361856		TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr1:161094314G>A	ENST00000368006.3	-	0	153				NIT1_ENST00000368008.1_3'UTR|DEDD_ENST00000490843.2_De_novo_Start_InFrame|DEDD_ENST00000368005.1_De_novo_Start_InFrame|DEDD_ENST00000489249.1_Intron|DEDD_ENST00000545495.1_De_novo_Start_InFrame|DEDD_ENST00000392188.1_De_novo_Start_InFrame|DEDD_ENST00000458050.2_De_novo_Start_InFrame	NM_032998.2	NP_127491.1	O75618	DEDD_HUMAN	death effector domain containing						decidualization (GO:0046697)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|regulation of apoptotic process (GO:0042981)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)			cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			AATCCCCACCGTACTGAAAGG	0.562													G|||	1	0.000199681	0.0	0.0	5008	,	,		20073	0.001		0.0	False		,,,				2504	0.0					uc001fxz.2																			0					0						c.(-63--59)TACGG>TATGG		death effector domain-containing protein																																						9191				apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr1:161094314G>A	AF043733	CCDS1219.1	1q23.1	2008-02-05	2002-01-14		ENSG00000158796	ENSG00000158796			2755	protein-coding gene	gene with protein product		606841	"""death effector domain-containing"""			9774341, 9832420	Standard	XM_005245597		Approved	DEFT, FLDED1, CASP8IP1, KE05, DEDD1	uc001fxz.3	O75618	OTTHUMG00000033104		1.37:g.161094314G>A						NIT1_uc001fxw.2_3'UTR|DEDD_uc009wty.2_Translation_Start_Site|DEDD_uc001fya.2_Translation_Start_Site|DEDD_uc001fyb.2_Translation_Start_Site|DEDD_uc010pkb.1_Translation_Start_Site|DEDD_uc001fyc.2_Intron		NM_001039712	NP_001034801	O75618	DEDD_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		3	112	-	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)							D3DVF5|O60737	Translation_Start_Site	SNP	ENST00000368006.3	37	c.-61C>T	CCDS1219.1																																																																																				0.562	DEDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080582.1	NM_004216	
MMRN2	79812	broad.mit.edu	37	10	88703548	88703548	+	Silent	SNP	G	G	A	rs200423909		TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr10:88703548G>A	ENST00000372027.5	-	6	1314	c.993C>T	c.(991-993)gcC>gcT	p.A331A	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	331					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TGTCCACATCGGCTTGGAGCT	0.622																																						uc001kea.2																			0				large_intestine(1)	1						c.(991-993)GCC>GCT		multimerin 2 precursor							58.0	60.0	59.0					10																	88703548		2203	4300	6503	SO:0001819	synonymous_variant	79812					extracellular space		g.chr10:88703548G>A	AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"""EMI domain containing"""	19888	protein-coding gene	gene with protein product		608925	"""elastin microfibril interfacer 3"""	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.993C>T	10.37:g.88703548G>A						MMRN2_uc010qmn.1_Intron|MMRN2_uc009xtb.2_Silent_p.A288A	p.A331A	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN			6	1120	-			331			Potential.		Q504V7|Q6P2N2	Silent	SNP	ENST00000372027.5	37	c.993C>T	CCDS7379.1																																																																																				0.622	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	NM_024756	
PTEN	5728	broad.mit.edu	37	10	89717715	89717716	+	Frame_Shift_Ins	INS	-	-	A	rs587782341		TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr10:89717715_89717716insA	ENST00000371953.3	+	7	2097_2098	c.740_741insA	c.(739-744)ttacctfs	p.P248fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	248	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.P248fs*5(13)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.L247*(2)|p.G165_*404del(1)|p.L247fs*6(1)|p.?(1)|p.L247fs*5(1)|p.L247fs*4(1)|p.L247F(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CCTCAGCCGTTACCTGTGTGTG	0.406		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		67	Whole gene deletion(37)|Insertion - Frameshift(14)|Deletion - Frameshift(11)|Substitution - Nonsense(2)|Deletion - In frame(1)|Unknown(1)|Substitution - Missense(1)	p.P248fs*5(11)|p.R55fs*1(4)|p.L247*(3)|p.L247fs*10(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.L247fs*11(1)|p.L247fs*12(1)|p.G165_*404del(1)|p.L247fs*6(1)|p.L247fs*4(1)|p.?(1)|p.L247fs*5(1)|p.G165_K342del(1)|p.L247fs*8(1)|p.P246_L247insGP(1)	central_nervous_system(16)|prostate(16)|skin(7)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|lung(5)|ovary(5)|breast(4)|urinary_tract(2)|soft_tissue(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	GRCh37	CI043805	PTEN	I		c.(739-741)TTAfs		phosphatase and tensin homolog																																				SO:0001589	frameshift_variant	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89717715_89717716insA	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.741dupA	10.37:g.89717716_89717716dupA	ENSP00000361021:p.Pro248fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.L247fs	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	8	1771_1772	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	247			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Ins	INS	ENST00000371953.3	37	c.740_741insA	CCDS31238.1																																																																																				0.406	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
ART1	417	broad.mit.edu	37	11	3681258	3681258	+	Missense_Mutation	SNP	G	G	A	rs141732093	byFrequency	TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr11:3681258G>A	ENST00000250693.1	+	3	610	c.509G>A	c.(508-510)cGt>cAt	p.R170H		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	170					innate immune response (GO:0045087)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)		AGCGGCCAGCGTCCACCCCGG	0.701																																						uc001lye.1																			0					0						c.(508-510)CGT>CAT		ADP-ribosyltransferase 1 precursor	Becaplermin(DB00102)						29.0	31.0	30.0					11																	3681258		2201	4298	6499	SO:0001583	missense	417				protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity	g.chr11:3681258G>A	S74683	CCDS7744.1	11p15	2006-02-23			ENSG00000129744	ENSG00000129744		"""CD molecules"""	723	protein-coding gene	gene with protein product		601625				8812442	Standard	NM_004314		Approved	ART2, CD296	uc001lye.1	P52961	OTTHUMG00000011845	ENST00000250693.1:c.509G>A	11.37:g.3681258G>A	ENSP00000250693:p.Arg170His					ART1_uc009yeb.1_Missense_Mutation_p.R170H	p.R170H	NM_004314	NP_004305	P52961	NAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	3	610	+		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	170					Q6NTD2|Q96KT9	Missense_Mutation	SNP	ENST00000250693.1	37	c.509G>A	CCDS7744.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	5.302	0.241086	0.10077	.	.	ENSG00000129744	ENST00000250693	T	0.08807	3.05	4.98	-1.42	0.08913	.	1.246240	0.05071	N	0.481748	T	0.07324	0.0185	L	0.41710	1.295	0.09310	N	1	B	0.14012	0.009	B	0.12837	0.008	T	0.42396	-0.9454	9	.	.	.	-1.4233	5.3585	0.16075	0.3162:0.4449:0.2389:0.0	.	170	P52961	NAR1_HUMAN	H	170	ENSP00000250693:R170H	.	R	+	2	0	ART1	3637834	0.000000	0.05858	0.001000	0.08648	0.029000	0.11900	-0.392000	0.07314	-0.110000	0.12022	-0.444000	0.05651	CGT		0.701	ART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032765.1	NM_004314	
OR10A3	26496	broad.mit.edu	37	11	7960954	7960954	+	Silent	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr11:7960954G>A	ENST00000360759.3	-	1	187	c.114C>T	c.(112-114)acC>acT	p.T38T		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	38					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTCCCATCAGGGTCACCACAT	0.473																																						uc010rbi.1																			0				pancreas(1)	1						c.(112-114)ACC>ACT		olfactory receptor, family 10, subfamily A,							101.0	98.0	99.0					11																	7960954		2201	4296	6497	SO:0001819	synonymous_variant	26496				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7960954G>A	BK004404	CCDS31421.1	11p15.4	2012-08-09			ENSG00000170683	ENSG00000170683		"""GPCR / Class A : Olfactory receptors"""	8162	protein-coding gene	gene with protein product						1370859	Standard	NM_001003745		Approved	HTPCRX12, HSHTPCRX12	uc010rbi.2	P58181	OTTHUMG00000165672	ENST00000360759.3:c.114C>T	11.37:g.7960954G>A							p.T38T	NM_001003745	NP_001003745	P58181	O10A3_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	114	-			38			Helical; Name=1; (Potential).		B9EH39|Q6IF58|Q96R11	Silent	SNP	ENST00000360759.3	37	c.114C>T	CCDS31421.1																																																																																				0.473	OR10A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385704.1	NM_001003745	
CALCA	796	broad.mit.edu	37	11	14991572	14991572	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr11:14991572C>T	ENST00000486207.1	-	2	144	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	CALCA_ENST00000361010.3_Missense_Mutation_p.E46K|CALCA_ENST00000331587.4_Missense_Mutation_p.E46K|CALCB_ENST00000523376.1_Intron|CALCA_ENST00000359642.3_Missense_Mutation_p.E46K|CALCA_ENST00000396372.2_Missense_Mutation_p.E46K			P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha	46					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|cytosolic calcium ion homeostasis (GO:0051480)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|G-protein coupled receptor internalization (GO:0002031)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of blood pressure (GO:0045776)|negative regulation of bone resorption (GO:0045779)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of osteoclast differentiation (GO:0045671)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of vasodilation (GO:0045909)|protein phosphorylation (GO:0006468)|receptor internalization (GO:0031623)|regulation of blood pressure (GO:0008217)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	protein complex binding (GO:0032403)|receptor binding (GO:0005102)			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8						AGGCGCGCTTCGTCCTCACTG	0.642											OREG0020791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001mlt.1																			0				central_nervous_system(1)	1						c.(136-138)GAA>AAA		calcitonin isoform CGRP preproprotein	Phentolamine(DB00692)						41.0	41.0	41.0					11																	14991572		2200	4294	6494	SO:0001583	missense	796				activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity	g.chr11:14991572C>T	X00356, M64486	CCDS7819.1, CCDS31432.1	11p15.2	2014-09-17	2008-02-20		ENSG00000110680	ENSG00000110680		"""Endogenous ligands"""	1437	protein-coding gene	gene with protein product	"""calcitonin"""	114130	"""calcitonin 1"""	CALC1		6546550	Standard	NM_001033953		Approved		uc001mlw.1	P01258	OTTHUMG00000159731	ENST00000486207.1:c.136G>A	11.37:g.14991572C>T	ENSP00000417833:p.Glu46Lys		OREG0020791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	699	CALCA_uc001mlu.1_RNA|CALCA_uc001mlv.1_Missense_Mutation_p.E46K|CALCA_uc001mlw.1_Missense_Mutation_p.E46K	p.E46K	NM_001033953	NP_001029125	P06881	CALCA_HUMAN			3	211	-			46					Q93048|Q9UCP0	Missense_Mutation	SNP	ENST00000486207.1	37	c.136G>A	CCDS31432.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.979664	0.53827	.	.	ENSG00000110680	ENST00000486207;ENST00000361010;ENST00000359642;ENST00000331587;ENST00000396372	T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96	4.83	2.95	0.34219	.	0.239013	0.47852	D	0.000219	T	0.23249	0.0562	M	0.64676	1.99	0.45899	D	0.998749	P;P	0.47962	0.798;0.903	B;B	0.42282	0.168;0.382	T	0.03863	-1.0997	10	0.62326	D	0.03	-20.061	10.7645	0.46286	0.0:0.7971:0.1312:0.0717	.	46;46	P01258;P06881	CALC_HUMAN;CALCA_HUMAN	K	46	ENSP00000417833:E46K;ENSP00000354286:E46K;ENSP00000352663:E46K;ENSP00000331746:E46K;ENSP00000379657:E46K	ENSP00000331746:E46K	E	-	1	0	CALCA	14948148	1.000000	0.71417	0.128000	0.21923	0.048000	0.14542	5.054000	0.64275	0.771000	0.33359	-0.889000	0.02933	GAA		0.642	CALCA-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357068.1	NM_001741	
SYT13	57586	broad.mit.edu	37	11	45274024	45274024	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr11:45274024G>A	ENST00000020926.3	-	4	905	c.794C>T	c.(793-795)aCa>aTa	p.T265I	CTD-2560E9.5_ENST00000531663.1_RNA|CTD-2560E9.5_ENST00000534342.1_RNA	NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	265					vesicle-mediated transport (GO:0016192)	integral component of plasma membrane (GO:0005887)|transport vesicle (GO:0030133)				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						AGGCACAGATGTCCCGTCCAG	0.647											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001myq.2																			0				ovary(1)	1						c.(793-795)ACA>ATA		synaptotagmin XIII							54.0	57.0	56.0					11																	45274024		2203	4299	6502	SO:0001583	missense	57586					transport vesicle		g.chr11:45274024G>A	AB037848	CCDS31470.1	11p12-p11	2013-01-21			ENSG00000019505	ENSG00000019505		"""Synaptotagmins"""	14962	protein-coding gene	gene with protein product		607716				11171101	Standard	NM_020826		Approved	KIAA1427	uc001myq.2	Q7L8C5	OTTHUMG00000166504	ENST00000020926.3:c.794C>T	11.37:g.45274024G>A	ENSP00000020926:p.Thr265Ile		OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	930	SYT13_uc009yku.1_Missense_Mutation_p.T121I	p.T265I	NM_020826	NP_065877	Q7L8C5	SYT13_HUMAN			4	920	-			265			Cytoplasmic (Potential).		A8K4P4|D3DQP1|Q9BQS3|Q9H041|Q9P2C0	Missense_Mutation	SNP	ENST00000020926.3	37	c.794C>T	CCDS31470.1	.	.	.	.	.	.	.	.	.	.	G	7.156	0.584664	0.13749	.	.	ENSG00000019505	ENST00000020926	T	0.06528	3.29	5.85	-1.72	0.08107	C2 calcium/lipid-binding domain, CaLB (1);	0.924615	0.09252	N	0.827710	T	0.03220	0.0094	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48127	-0.9062	10	0.15499	T	0.54	.	11.0154	0.47685	0.5755:0.0:0.4245:0.0	.	265	Q7L8C5	SYT13_HUMAN	I	265	ENSP00000020926:T265I	ENSP00000020926:T265I	T	-	2	0	SYT13	45230600	0.001000	0.12720	0.011000	0.14972	0.104000	0.19210	-0.056000	0.11787	-0.316000	0.08690	-0.367000	0.07326	ACA		0.647	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390110.1	NM_020826	
OR8K3	219473	broad.mit.edu	37	11	56086116	56086116	+	Frame_Shift_Del	DEL	C	C	-			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr11:56086116delC	ENST00000312711.1	+	1	334	c.334delC	c.(334-336)cttfs	p.L112fs		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TGGTAGTGAACTTTTTATTCT	0.378																																						uc010rjf.1																			0				ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(334-336)CTTfs		olfactory receptor, family 8, subfamily K,							98.0	96.0	97.0					11																	56086116		2201	4296	6497	SO:0001589	frameshift_variant	219473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56086116delC	AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"""GPCR / Class A : Olfactory receptors"""	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.334delC	11.37:g.56086116delC	ENSP00000323555:p.Leu112fs						p.L112fs	NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN			1	334	+	Esophageal squamous(21;0.00448)		112			Helical; Name=3; (Potential).		Q6IFC4	Frame_Shift_Del	DEL	ENST00000312711.1	37	c.334delC	CCDS31527.1																																																																																				0.378	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202	
TCN1	6947	broad.mit.edu	37	11	59629066	59629066	+	Missense_Mutation	SNP	C	C	T	rs77116206	byFrequency	TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr11:59629066C>T	ENST00000257264.3	-	4	594	c.490G>A	c.(490-492)Gcc>Acc	p.A164T	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	164	Globular N-terminal alpha domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACAACTTCGGCGGTTGAGTAG	0.453													C|||	2	0.000399361	0.0008	0.0	5008	,	,		18242	0.0		0.001	False		,,,				2504	0.0					uc001noj.2																			0				ovary(2)	2						c.(490-492)GCC>ACC		transcobalamin I precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						119.0	117.0	118.0					11																	59629066		2201	4295	6496	SO:0001583	missense	6947				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	g.chr11:59629066C>T	J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"""haptocorin"", ""haptocorrin"""	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.490G>A	11.37:g.59629066C>T	ENSP00000257264:p.Ala164Thr						p.A164T	NM_001062	NP_001053	P20061	TCO1_HUMAN			4	588	-		all_epithelial(135;0.198)	164					A8KAC5|Q8WV77	Missense_Mutation	SNP	ENST00000257264.3	37	c.490G>A	CCDS7978.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	1.304	-0.604040	0.03717	.	.	ENSG00000134827	ENST00000257264	T	0.35236	1.32	5.12	-8.08	0.01094	.	1.470240	0.04237	N	0.336276	T	0.09598	0.0236	N	0.02315	-0.6	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.16541	-1.0399	10	0.12766	T	0.61	.	0.2126	0.00158	0.2916:0.245:0.2362:0.2272	.	164	P20061	TCO1_HUMAN	T	164	ENSP00000257264:A164T	ENSP00000257264:A164T	A	-	1	0	TCN1	59385642	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.490000	0.02304	-0.922000	0.03789	-2.230000	0.00291	GCC		0.453	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062	
MTA2	9219	broad.mit.edu	37	11	62364206	62364206	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr11:62364206C>T	ENST00000278823.2	-	9	1174	c.785G>A	c.(784-786)cGg>cAg	p.R262Q	MTA2_ENST00000527204.1_Missense_Mutation_p.R89Q|MTA2_ENST00000524902.1_Missense_Mutation_p.R89Q	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	262					ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						CATCTCATCCCGACACAGCAC	0.542																																						uc001ntq.1																			0				ovary(1)|skin(1)	2						c.(784-786)CGG>CAG		metastasis-associated protein 2							84.0	81.0	82.0					11																	62364206		2202	4299	6501	SO:0001583	missense	9219				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:62364206C>T	AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"""GATA zinc finger domain containing"""	7411	protein-coding gene	gene with protein product		603947	"""metastasis associated gene family, member 2"""	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.785G>A	11.37:g.62364206C>T	ENSP00000278823:p.Arg262Gln					MTA2_uc010rlx.1_Missense_Mutation_p.R89Q	p.R262Q	NM_004739	NP_004730	O94776	MTA2_HUMAN			9	1166	-			262					Q68DB1|Q9UQB5	Missense_Mutation	SNP	ENST00000278823.2	37	c.785G>A	CCDS8022.1	.	.	.	.	.	.	.	.	.	.	C	34	5.332469	0.95733	.	.	ENSG00000149480	ENST00000278823;ENST00000524902;ENST00000527204	T;T;T	0.40225	1.04;1.04;1.04	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.63474	0.2514	M	0.72118	2.19	0.80722	D	1	D	0.69078	0.997	D	0.67725	0.953	T	0.65298	-0.6202	10	0.62326	D	0.03	-20.8698	16.9935	0.86360	0.0:1.0:0.0:0.0	.	262	O94776	MTA2_HUMAN	Q	262;89;89	ENSP00000278823:R262Q;ENSP00000431346:R89Q;ENSP00000431797:R89Q	ENSP00000278823:R262Q	R	-	2	0	MTA2	62120782	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.767000	0.85331	2.679000	0.91253	0.561000	0.74099	CGG		0.542	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395578.1	NM_004739	
SF1	7536	broad.mit.edu	37	11	64537728	64537728	+	Splice_Site	SNP	T	T	C			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr11:64537728T>C	ENST00000377390.3	-	4	726	c.389A>G	c.(388-390)aAa>aGa	p.K130R	SF1_ENST00000422298.2_Splice_Site_p.K15R|SF1_ENST00000489544.1_5'Flank|SF1_ENST00000377387.1_Splice_Site_p.K255R|SF1_ENST00000433274.2_Splice_Site_p.K104R|SF1_ENST00000377394.3_Splice_Site_p.K130R|SF1_ENST00000227503.9_Splice_Site_p.K130R|SF1_ENST00000334944.5_Splice_Site_p.K130R	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	130					Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						CTCCGCTTACTTGTAATCTGC	0.532																																						uc001obb.1																			0				ovary(1)|breast(1)|skin(1)	3						c.(388-390)AAA>AGA		splicing factor 1 isoform 1							134.0	128.0	130.0					11																	64537728		2201	4297	6498	SO:0001630	splice_region_variant	7536				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding	g.chr11:64537728T>C	D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"""Zinc fingers, CCHC domain containing"""	12950	protein-coding gene	gene with protein product		601516	"""zinc finger protein 162"""	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.389+1A>G	11.37:g.64537728T>C						SF1_uc010rnm.1_5'Flank|SF1_uc010rnn.1_Missense_Mutation_p.K104R|SF1_uc001oaz.1_Missense_Mutation_p.K255R|SF1_uc001oba.1_Missense_Mutation_p.K130R|SF1_uc001obc.1_Missense_Mutation_p.K130R|SF1_uc001obd.1_Missense_Mutation_p.K130R|SF1_uc001obe.1_Missense_Mutation_p.K15R|SF1_uc010rno.1_Missense_Mutation_p.K15R	p.K130R	NM_004630	NP_004621	Q15637	SF01_HUMAN			4	766	-			130					B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP	ENST00000377390.3	37	c.389A>G	CCDS31599.1	.	.	.	.	.	.	.	.	.	.	T	10.92	1.488353	0.26686	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000422298;ENST00000433274	T;T;T;T;T;T;T	0.39787	1.09;1.13;1.12;1.06;1.09;1.15;1.11	5.95	5.95	0.96441	.	0.043504	0.85682	D	0.000000	T	0.35595	0.0937	N	0.25890	0.77	0.80722	D	1	P;P;P;P;P;P	0.47677	0.461;0.725;0.88;0.64;0.754;0.899	B;B;B;B;B;P	0.45119	0.134;0.23;0.325;0.174;0.325;0.47	T	0.07927	-1.0747	9	.	.	.	.	14.359	0.66757	0.0:0.0:0.0:1.0	.	15;130;130;130;130;255	B4DX42;Q15637-6;Q15637-4;Q15637;Q15637-2;Q15637-5	.;.;.;SF01_HUMAN;.;.	R	255;130;130;130;130;15;104	ENSP00000366604:K255R;ENSP00000366607:K130R;ENSP00000227503:K130R;ENSP00000366611:K130R;ENSP00000334414:K130R;ENSP00000413084:K15R;ENSP00000396793:K104R	.	K	-	2	0	SF1	64294304	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	7.447000	0.80620	2.272000	0.75746	0.460000	0.39030	AAA		0.532	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	NM_004630	Missense_Mutation
USP35	57558	broad.mit.edu	37	11	77921629	77921629	+	Missense_Mutation	SNP	A	A	C			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr11:77921629A>C	ENST00000529308.1	+	10	2989	c.2728A>C	c.(2728-2730)Acc>Ccc	p.T910P	USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.T641P|USP35_ENST00000441408.2_Missense_Mutation_p.T496P|USP35_ENST00000530267.1_Missense_Mutation_p.T478P	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	910	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CAGCAACGTCACCTCCTTCTT	0.572																																						uc009yva.1																			0				lung(2)|ovary(1)	3						c.(2728-2730)ACC>CCC		ubiquitin specific protease 35							131.0	128.0	129.0					11																	77921629		1975	4150	6125	SO:0001583	missense	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77921629A>C	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.2728A>C	11.37:g.77921629A>C	ENSP00000431876:p.Thr910Pro					USP35_uc001oze.2_Missense_Mutation_p.T666P|USP35_uc001ozc.2_Missense_Mutation_p.T478P|USP35_uc010rsp.1_Missense_Mutation_p.T342P|USP35_uc001ozd.2_Missense_Mutation_p.T521P|USP35_uc001ozf.2_Missense_Mutation_p.T641P	p.T910P	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		10	2974	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		910						Missense_Mutation	SNP	ENST00000529308.1	37	c.2728A>C	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.563975	0.86335	.	.	ENSG00000118369	ENST00000530267;ENST00000529308;ENST00000441408;ENST00000526425	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	4.9	4.9	0.64082	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	D	0.000012	T	0.49779	0.1577	L	0.52206	1.635	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.51725	-0.8669	10	0.72032	D	0.01	-37.5352	14.6842	0.69037	1.0:0.0:0.0:0.0	.	910;496	Q9P2H5;E7EWV7	UBP35_HUMAN;.	P	478;910;496;641	ENSP00000435468:T478P;ENSP00000431876:T910P;ENSP00000400825:T496P;ENSP00000434942:T641P	ENSP00000400825:T496P	T	+	1	0	USP35	77599277	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.908000	0.92640	2.054000	0.61138	0.459000	0.35465	ACC		0.572	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527	
MMP13	4322	broad.mit.edu	37	11	102822866	102822866	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr11:102822866C>T	ENST00000260302.3	-	5	702	c.674G>A	c.(673-675)gGc>gAc	p.G225D	MMP13_ENST00000340273.4_Missense_Mutation_p.G225D	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	225	Interaction with TIMP2.				bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G225F(1)|p.G225V(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	TAAGGAGTGGCCGAACTCATG	0.443																																						uc001phl.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(673-675)GGC>GAC		matrix metalloproteinase 13 preproprotein							178.0	167.0	171.0					11																	102822866		2202	4299	6501	SO:0001583	missense	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102822866C>T	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"""Endogenous ligands"""	7159	protein-coding gene	gene with protein product	"""collagenase 3"""	600108	"""matrix metalloproteinase 13 (collagenase 3)"""			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.674G>A	11.37:g.102822866C>T	ENSP00000260302:p.Gly225Asp						p.G225D	NM_002427	NP_002418	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	5	702	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	225					A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	c.674G>A	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	C	34	5.325364	0.95708	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	D;D	0.90324	-2.65;-2.65	5.75	5.75	0.90469	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98134	0.9384	H	0.99900	4.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99047	1.0826	10	0.87932	D	0	.	20.312	0.98644	0.0:1.0:0.0:0.0	.	225	P45452	MMP13_HUMAN	D	225	ENSP00000260302:G225D;ENSP00000339672:G225D	ENSP00000260302:G225D	G	-	2	0	MMP13	102328076	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.772000	0.85439	2.866000	0.98385	0.650000	0.86243	GGC		0.443	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427	
Unknown	0	broad.mit.edu	37	12	92000	92000	+	IGR	SNP	A	A	T	rs372724029		TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr12:92000A>T								AC215219.1 (18678 upstream) : AC026369.1 (55051 downstream)																							GGTCCTGGCAACACTCTGGAC	0.572																																						uc010sdi.1																			0											c.(310-312)TTG>ATG		SubName: Full=DEAD/H box polypeptide 11 like 11;																																				SO:0001628	intergenic_variant	0							g.chr12:92000A>T																													12.37:g.92000A>T						uc010sdj.1_RNA	p.L104M							2	338	-									Missense_Mutation	SNP		37	c.310T>A																																																																																				0	0.572								
IQSEC3	440073	broad.mit.edu	37	12	247574	247574	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr12:247574C>T	ENST00000538872.1	+	4	1163	c.1045C>T	c.(1045-1047)Cgg>Tgg	p.R349W	RP11-598F7.4_ENST00000508953.2_RNA|IQSEC3_ENST00000382841.2_Missense_Mutation_p.R46W|IQSEC3_ENST00000326261.4_Missense_Mutation_p.R349W|RP11-598F7.4_ENST00000505893.2_RNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	349					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CCGCCTGCCACGGCGGATCTC	0.667																																						uc001qhw.1																			0				central_nervous_system(2)|large_intestine(1)|skin(1)	4						c.(136-138)CGG>TGG		IQ motif and Sec7 domain 3							18.0	18.0	18.0					12																	247574		2189	4287	6476	SO:0001583	missense	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:247574C>T	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.1045C>T	12.37:g.247574C>T	ENSP00000437554:p.Arg349Trp					IQSEC3_uc001qhu.1_Missense_Mutation_p.R46W|IQSEC3_uc001qht.1_Missense_Mutation_p.R131W|uc001qhv.1_RNA	p.R46W	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	1	142	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		349					A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	ENST00000538872.1	37	c.136C>T	CCDS53728.1	.	.	.	.	.	.	.	.	.	.	C	34	5.369782	0.95900	.	.	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	T;T;T	0.80480	-1.38;-1.38;-1.38	5.29	5.29	0.74685	.	0.106892	0.64402	D	0.000003	D	0.90452	0.7010	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.91573	0.5273	10	0.87932	D	0	.	18.9415	0.92607	0.0:1.0:0.0:0.0	.	349;46	Q9UPP2;Q9UPP2-2	IQEC3_HUMAN;.	W	349;349;46	ENSP00000437554:R349W;ENSP00000315662:R349W;ENSP00000372292:R46W	ENSP00000315662:R349W	R	+	1	2	IQSEC3	117835	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.615000	0.61190	2.475000	0.83589	0.462000	0.41574	CGG		0.667	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902	
CLEC4C	170482	broad.mit.edu	37	12	7898972	7898972	+	Missense_Mutation	SNP	C	C	T	rs370896266		TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr12:7898972C>T	ENST00000542353.1	-	3	569	c.79G>A	c.(79-81)Gta>Ata	p.V27I	CLEC4C_ENST00000354629.5_Intron|CLEC4C_ENST00000360345.3_Missense_Mutation_p.V27I|CLEC4C_ENST00000540085.1_Intron	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	27					innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		AAGATGGATACGACTGCCATG	0.483													C|||	1	0.000199681	0.0	0.0014	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0					uc001qtg.1																			0				ovary(2)|skin(1)	3						c.(79-81)GTA>ATA		C-type lectin domain family 4, member C isoform		C	ILE/VAL,	2,4404	4.2+/-10.8	0,2,2201	163.0	125.0	138.0		79,	-4.6	0.0	12		138	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron	CLEC4C	NM_130441.2,NM_203503.1	29,	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	benign,	27/214,	7898972	3,13003	2203	4300	6503	SO:0001583	missense	170482				innate immune response	integral to membrane	sugar binding	g.chr12:7898972C>T	AF325460	CCDS8583.1, CCDS8584.1	12p13.2-p12.3	2008-02-05	2004-02-13	2005-02-11	ENSG00000198178	ENSG00000198178		"""C-type lectin domain containing"", ""CD molecules"""	13258	protein-coding gene	gene with protein product		606677	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 7"""	CLECSF11, CLECSF7		11031109, 11536172	Standard	NM_130441		Approved	HECL, DLEC, BDCA2, CD303	uc001qth.1	Q8WTT0	OTTHUMG00000168441	ENST00000542353.1:c.79G>A	12.37:g.7898972C>T	ENSP00000440428:p.Val27Ile					CLEC4C_uc001qth.1_Missense_Mutation_p.V27I|CLEC4C_uc001qti.1_Intron	p.V27I	NM_130441	NP_569708	Q8WTT0	CLC4C_HUMAN		Kidney(36;0.0915)	2	253	-			27			Helical; Signal-anchor for type II membrane protein; (Potential).		D3DUU3|Q3T1C3|Q6UXS8|Q8WXX8	Missense_Mutation	SNP	ENST00000542353.1	37	c.79G>A	CCDS8583.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-2.015415	0.00422	4.54E-4	1.16E-4	ENSG00000198178	ENST00000542353;ENST00000360345;ENST00000543765	T;T;T	0.16743	4.48;4.48;2.32	2.28	-4.56	0.03431	.	.	.	.	.	T	0.03871	0.0109	N	0.01874	-0.695	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.33752	-0.9856	9	0.02654	T	1	.	5.1277	0.14894	0.174:0.6246:0.0:0.2013	.	27	Q8WTT0	CLC4C_HUMAN	I	27;27;24	ENSP00000440428:V27I;ENSP00000353500:V27I;ENSP00000442457:V24I	ENSP00000353500:V27I	V	-	1	0	CLEC4C	7790239	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.283000	0.00527	-1.491000	0.01840	-0.507000	0.04495	GTA		0.483	CLEC4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399750.1	NM_203503	
HECTD4	283450	broad.mit.edu	37	12	112605619	112605619	+	Splice_Site	SNP	T	T	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr12:112605619T>A	ENST00000430131.2	-	70	12190	c.11045A>T	c.(11044-11046)aAg>aTg	p.K3682M	HECTD4_ENST00000550722.1_Splice_Site_p.K3958M|HECTD4_ENST00000377560.5_Splice_Site_p.K3932M			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3682	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TCTGCCTACCTTGTTCTTATT	0.617																																						uc009zwc.2																			0				ovary(1)|lung(1)	2						c.(11044-11046)AAG>ATG		chromosome 12 open reading frame 51							41.0	50.0	47.0					12																	112605619		2050	4192	6242	SO:0001630	splice_region_variant	283450							g.chr12:112605619T>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.11046+1A>T	12.37:g.112605619T>A							p.K3682M	NM_001109662	NP_001103132					64	11063	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.11045A>T		.	.	.	.	.	.	.	.	.	.	T	28.2	4.902016	0.92035	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722;ENST00000547085	T;T;T	0.58652	0.32;0.32;0.32	5.46	5.46	0.80206	HECT (4);	.	.	.	.	T	0.71400	0.3335	L	0.49350	1.555	0.58432	D	0.999999	D	0.76494	0.999	D	0.83275	0.996	T	0.74420	-0.3671	9	0.87932	D	0	.	15.5183	0.75842	0.0:0.0:0.0:1.0	.	3682	Q9Y4D8	K0614_HUMAN	M	3932;3682;3958;147	ENSP00000366783:K3932M;ENSP00000404379:K3682M;ENSP00000449784:K3958M	ENSP00000366783:K3932M	K	-	2	0	C12orf51	111090002	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.509000	0.81698	2.090000	0.63153	0.402000	0.26972	AAG		0.617	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813	Missense_Mutation
POLE2	5427	broad.mit.edu	37	14	50120778	50120778	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr14:50120778G>A	ENST00000216367.5	-	15	1240	c.1141C>T	c.(1141-1143)Ctt>Ttt	p.L381F	POLE2_ENST00000539565.2_Missense_Mutation_p.L355F|POLE2_ENST00000554396.1_Missense_Mutation_p.L381F|POLE2_ENST00000556584.1_5'UTR	NM_002692.3	NP_002683.2	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	381					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	epsilon DNA polymerase complex (GO:0008622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)				Cladribine(DB00242)	CTTTCAGCAAGTGGTGGCCTA	0.294																																						uc001wwu.2																			0				ovary(1)|skin(1)	2						c.(1141-1143)CTT>TTT		DNA-directed DNA polymerase epsilon 2							70.0	72.0	71.0					14																	50120778		2203	4300	6503	SO:0001583	missense	5427				DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity	g.chr14:50120778G>A	AF025840	CCDS32073.1, CCDS55914.1, CCDS55915.1	14q21-q22	2012-05-18	2012-05-18		ENSG00000100479	ENSG00000100479		"""DNA polymerases"""	9178	protein-coding gene	gene with protein product	"""DNA polymerase epsilon subunit B"""	602670	"""polymerase (DNA directed), epsilon 2 (p59 subunit)"""			9405441, 9443964	Standard	NM_002692		Approved	DPE2	uc001wwu.3	P56282	OTTHUMG00000170813	ENST00000216367.5:c.1141C>T	14.37:g.50120778G>A	ENSP00000216367:p.Leu381Phe					SDCCAG1_uc010anj.1_Intron|POLE2_uc010ann.2_Missense_Mutation_p.L95F|POLE2_uc001wwv.2_RNA|POLE2_uc010ano.2_Missense_Mutation_p.L96F	p.L381F	NM_002692	NP_002683	P56282	DPOE2_HUMAN			15	1155	-	all_epithelial(31;0.0021)|Breast(41;0.0124)		381					A0AV55|A4FU92|A4LBB7|A6NH58|B4DDE6|O43560	Missense_Mutation	SNP	ENST00000216367.5	37	c.1141C>T	CCDS32073.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.057862	0.36277	.	.	ENSG00000100479	ENST00000216367;ENST00000539565;ENST00000554396	T;T;T	0.29917	1.55;1.55;1.55	6.16	3.33	0.38152	DNA polymerase alpha/epsilon, subunit B (1);	0.175363	0.51477	N	0.000084	T	0.42966	0.1226	M	0.79926	2.475	0.53688	D	0.999978	B;B;B	0.23249	0.082;0.023;0.013	B;B;B	0.41646	0.362;0.084;0.031	T	0.36187	-0.9758	10	0.59425	D	0.04	-20.5213	6.0687	0.19877	0.1394:0.0:0.5928:0.2678	.	381;355;381	A4FU92;B4DDE6;P56282	.;.;DPOE2_HUMAN	F	381;355;381	ENSP00000216367:L381F;ENSP00000446313:L355F;ENSP00000451621:L381F	ENSP00000216367:L381F	L	-	1	0	POLE2	49190528	0.998000	0.40836	0.994000	0.49952	0.826000	0.46750	2.846000	0.48262	0.452000	0.26830	0.650000	0.86243	CTT		0.294	POLE2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410512.1	NM_002692	
MYO9A	4649	broad.mit.edu	37	15	72195395	72195395	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr15:72195395T>C	ENST00000356056.5	-	22	3359	c.2887A>G	c.(2887-2889)Agc>Ggc	p.S963G	MYO9A_ENST00000566885.1_Missense_Mutation_p.S583G|MYO9A_ENST00000424560.1_Missense_Mutation_p.S963G|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.S944G|MYO9A_ENST00000564571.1_Missense_Mutation_p.S963G	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	963	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGGAAGTGGCTCACAAAATCC	0.269																																						uc002atl.3																			0				ovary(1)|pancreas(1)|skin(1)	3						c.(2887-2889)AGC>GGC		myosin IXA							38.0	44.0	42.0					15																	72195395		2191	4275	6466	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72195395T>C	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.2887A>G	15.37:g.72195395T>C	ENSP00000348349:p.Ser963Gly					MYO9A_uc010biq.2_Missense_Mutation_p.S583G|MYO9A_uc002atn.1_Missense_Mutation_p.S944G	p.S963G	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN			22	3360	-			963			Myosin head-like 2.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.2887A>G	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	T	17.43	3.388132	0.61956	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864	D;D;D	0.88046	-2.33;-2.33;-2.33	5.8	4.67	0.58626	Myosin head, motor domain (2);	.	.	.	.	T	0.80226	0.4584	L	0.33753	1.03	0.25465	N	0.987886	B;B;B	0.31274	0.317;0.003;0.131	B;B;B	0.32393	0.069;0.007;0.145	T	0.70521	-0.4849	9	0.39692	T	0.17	.	8.7001	0.34320	0.0:0.1515:0.0:0.8485	.	944;944;963	B2RTY4-2;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	G	963;963;944;944	ENSP00000348349:S963G;ENSP00000399162:S963G;ENSP00000398250:S944G	ENSP00000261864:S944G	S	-	1	0	MYO9A	69982449	0.994000	0.37717	1.000000	0.80357	0.996000	0.88848	3.163000	0.50763	2.213000	0.71641	0.533000	0.62120	AGC		0.269	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901	
IL16	3603	broad.mit.edu	37	15	81598457	81598457	+	Missense_Mutation	SNP	C	C	G			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr15:81598457C>G	ENST00000302987.4	+	16	3629	c.3629C>G	c.(3628-3630)aCt>aGt	p.T1210S	RP11-761I4.4_ENST00000607019.1_RNA|IL16_ENST00000394660.2_Missense_Mutation_p.T1210S|IL16_ENST00000394652.2_Missense_Mutation_p.T509S			Q14005	IL16_HUMAN	interleukin 16	1210					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						AACTCCTCCACTGACTCTGCA	0.562																																						uc002bgh.3																			0				ovary(2)|lung(1)|skin(1)	4						c.(3628-3630)ACT>AGT		interleukin 16 isoform 2							79.0	84.0	83.0					15																	81598457		2203	4300	6503	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81598457C>G	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.3629C>G	15.37:g.81598457C>G	ENSP00000302935:p.Thr1210Ser					IL16_uc010blq.1_Missense_Mutation_p.T1164S|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.T1252S|IL16_uc002bgg.2_Missense_Mutation_p.T1210S|IL16_uc002bgi.1_Missense_Mutation_p.T600S|IL16_uc002bgj.2_Missense_Mutation_p.T704S|IL16_uc002bgk.2_Missense_Mutation_p.T509S|IL16_uc002bgl.1_Missense_Mutation_p.T509S|IL16_uc010unq.1_Missense_Mutation_p.T509S	p.T1210S	NM_172217	NP_757366	Q14005	IL16_HUMAN			17	4005	+			1210					A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.3629C>G	CCDS42069.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.458|3.458	-0.110660|-0.110660	0.06924|0.06924	.|.	.|.	ENSG00000172349|ENSG00000172349	ENST00000329842|ENST00000394660;ENST00000355368;ENST00000302987;ENST00000394653;ENST00000394652;ENST00000394656	.|T;T;T	.|0.38077	.|2.67;1.16;1.16	5.03|5.03	-1.03|-1.03	0.10102|0.10102	.|PDZ/DHR/GLGF (1);	.|0.690015	.|0.12798	.|N	.|0.438265	T|T	0.23492|0.23492	0.0568|0.0568	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.21071	.|0.001;0.0;0.051;0.0;0.0	.|B;B;B;B;B	.|0.14023	.|0.004;0.002;0.01;0.001;0.002	T|T	0.23797|0.23797	-1.0178|-1.0178	6|10	0.87932|0.18276	D|T	0|0.48	.|.	1.3722|1.3722	0.02213|0.02213	0.1454:0.3284:0.289:0.2372|0.1454:0.3284:0.289:0.2372	.|.	.|1042;703;600;1210;1210	.|F8W7Z5;Q6ZTT5;B3KY62;Q14005;Q14005-2	.|.;.;.;IL16_HUMAN;.	Q|S	720|1210;1042;1210;600;509;509	.|ENSP00000378155:T1210S;ENSP00000302935:T1210S;ENSP00000378147:T509S	ENSP00000329317:H720Q|ENSP00000302935:T1210S	H|T	+|+	3|2	2|0	IL16|IL16	79385512|79385512	0.001000|0.001000	0.12720|0.12720	0.026000|0.026000	0.17262|0.17262	0.001000|0.001000	0.01503|0.01503	0.445000|0.445000	0.21677|0.21677	-0.080000|-0.080000	0.12685|0.12685	-1.080000|-1.080000	0.02220|0.02220	CAC|ACT		0.562	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217	
HS3ST6	64711	broad.mit.edu	37	16	1961835	1961835	+	Missense_Mutation	SNP	C	C	T	rs375310728		TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr16:1961835C>T	ENST00000293937.3	-	2	784	c.785G>A	c.(784-786)cGc>cAc	p.R262H	HS3ST6_ENST00000454677.2_Missense_Mutation_p.R279H|HS3ST6_ENST00000443547.1_Missense_Mutation_p.R231H			Q96QI5	HS3S6_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	262					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)	p.R231H(2)		endometrium(2)|lung(2)	4						GTCCTGCACGCGGCCGACCTC	0.667																																						uc002cnf.2																			2	Substitution - Missense(2)		endometrium(2)		0						c.(691-693)CGC>CAC		heparan sulfate (glucosamine)							63.0	74.0	70.0					16																	1961835		2196	4300	6496	SO:0001583	missense	64711							g.chr16:1961835C>T			16p13.3	2008-10-30	2003-06-11	2003-06-13	ENSG00000162040	ENSG00000162040		"""Sulfotransferases, membrane-bound"""	14178	protein-coding gene	gene with protein product			"""heparan sulfate (glucosamine) 3-O-sulfotransferase 5"""	HS3ST5		11157797	Standard	NM_001009606		Approved		uc002cnf.3	Q96QI5	OTTHUMG00000047860	ENST00000293937.3:c.785G>A	16.37:g.1961835C>T	ENSP00000293937:p.Arg262His						p.R231H	NM_001009606	NP_001009606	C9JH64	C9JH64_HUMAN			2	692	-			231					Q96RX7	Missense_Mutation	SNP	ENST00000293937.3	37	c.692G>A		.	.	.	.	.	.	.	.	.	.	C	17.95	3.514826	0.64634	.	.	ENSG00000162040	ENST00000293937;ENST00000443547;ENST00000454677	T;T	0.58358	0.34;0.34	4.58	3.61	0.41365	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.74114	0.3674	M	0.89785	3.06	0.80722	D	1	D	0.76494	0.999	D	0.66497	0.944	T	0.78909	-0.2018	10	0.72032	D	0.01	.	12.0749	0.53638	0.0:0.9145:0.0:0.0855	.	262	Q96QI5	HS3S6_HUMAN	H	262;231;301	ENSP00000293937:R262H;ENSP00000390354:R231H	ENSP00000293937:R262H	R	-	2	0	HS3ST6	1901836	0.993000	0.37304	0.981000	0.43875	0.315000	0.28087	3.104000	0.50306	0.912000	0.36772	0.505000	0.49811	CGC		0.667	HS3ST6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001009606	
CLUAP1	23059	broad.mit.edu	37	16	3554767	3554767	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr16:3554767A>G	ENST00000576634.1	+	2	214	c.70A>G	c.(70-72)Atg>Gtg	p.M24V	CLUAP1_ENST00000341633.5_Missense_Mutation_p.M24V|LA16c-306E5.3_ENST00000574423.2_RNA|CLUAP1_ENST00000571025.1_Missense_Mutation_p.M24V|CLUAP1_ENST00000417763.2_5'UTR	NM_015041.2	NP_055856.1	Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	24					cilium assembly (GO:0042384)	centrosome (GO:0005813)|cilium (GO:0005929)|intracellular membrane-bounded organelle (GO:0043231)|intraciliary transport particle B (GO:0030992)|nucleus (GO:0005634)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						ACATATTTCTATGGAAAATTT	0.408																																						uc002cvk.1																			0				ovary(1)|breast(1)|pancreas(1)	3						c.(70-72)ATG>GTG		clusterin associated protein 1 isoform 1							119.0	118.0	118.0					16																	3554767		2197	4300	6497	SO:0001583	missense	23059					nucleus	protein binding	g.chr16:3554767A>G	BC017070	CCDS32381.1, CCDS45398.1	16p13.3	2014-07-18				ENSG00000103351		"""Intraflagellar transport homologs"""	19009	protein-coding gene	gene with protein product	"""flagellar associated protein 22, qilin-like protein, homolog (Chlamydomonas)"", ""cilia and flagella associated protein 22"""					15480429, 9734811, 19253336	Standard	NM_015041		Approved	FLJ13297, KIAA0643, FAP22, CFAP22	uc002cvk.2	Q96AJ1		ENST00000576634.1:c.70A>G	16.37:g.3554767A>G	ENSP00000460850:p.Met24Val					CLUAP1_uc002cvj.1_Missense_Mutation_p.M24V|CLUAP1_uc002cvl.1_Missense_Mutation_p.M24V	p.M24V	NM_015041	NP_055856	Q96AJ1	CLUA1_HUMAN			2	175	+			24					O75138|Q65ZA3|Q9H8R4|Q9H8T1	Missense_Mutation	SNP	ENST00000576634.1	37	c.70A>G	CCDS32381.1	.	.	.	.	.	.	.	.	.	.	A	16.48	3.135461	0.56828	.	.	ENSG00000103351	ENST00000341633	T	0.50277	0.75	5.34	5.34	0.76211	.	0.036284	0.85682	D	0.000000	T	0.44829	0.1312	L	0.49350	1.555	0.80722	D	1	P	0.37207	0.587	B	0.38225	0.268	T	0.44847	-0.9301	10	0.48119	T	0.1	-26.4514	13.2742	0.60178	1.0:0.0:0.0:0.0	.	24	Q96AJ1	CLUA1_HUMAN	V	24	ENSP00000344392:M24V	ENSP00000344392:M24V	M	+	1	0	CLUAP1	3494768	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	5.749000	0.68704	2.017000	0.59298	0.533000	0.62120	ATG		0.408	CLUAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437883.2	NM_024793	
CREBBP	1387	broad.mit.edu	37	16	3790494	3790494	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr16:3790494G>A	ENST00000262367.5	-	24	4848	c.4039C>T	c.(4039-4041)Cgg>Tgg	p.R1347W	CREBBP_ENST00000382070.3_Missense_Mutation_p.R1309W	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1347	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Cys/His-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTCTGGCGCCGCAAAAATTTG	0.562			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2				Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		0				haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(4039-4041)CGG>TGG		CREB binding protein isoform a							72.0	74.0	73.0					16																	3790494		2197	4300	6497	SO:0001583	missense	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3790494G>A	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4039C>T	16.37:g.3790494G>A	ENSP00000262367:p.Arg1347Trp					CREBBP_uc002cvw.2_Missense_Mutation_p.R1309W	p.R1347W	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	24	4243	-		Ovarian(90;0.0266)	1347			Cys/His-rich.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.4039C>T	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	g	17.54	3.414250	0.62511	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.93547	-3.24;-3.24	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000004	D	0.95133	0.8423	L	0.51422	1.61	0.48341	D	0.999638	D;D	0.89917	1.0;1.0	D;D	0.69142	0.962;0.962	D	0.95489	0.8567	10	0.87932	D	0	-30.9344	15.2156	0.73264	0.0:0.0:0.859:0.141	.	1377;1347	Q4LE28;Q92793	.;CBP_HUMAN	W	1347;1377;1309	ENSP00000262367:R1347W;ENSP00000371502:R1309W	ENSP00000262367:R1347W	R	-	1	2	CREBBP	3730495	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.297000	0.51810	2.503000	0.84419	0.555000	0.69702	CGG		0.562	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380	
PLCG2	5336	broad.mit.edu	37	16	81891938	81891938	+	Silent	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr16:81891938G>A	ENST00000359376.3	+	4	622	c.408G>A	c.(406-408)gcG>gcA	p.A136A	PLCG2_ENST00000565400.1_3'UTR	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	136					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CGATGAATGCGTCCACGCCCA	0.478																																						uc002fgt.2																			0				large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						c.(406-408)GCG>GCA		phospholipase C, gamma 2							134.0	134.0	134.0					16																	81891938		2036	4204	6240	SO:0001819	synonymous_variant	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81891938G>A		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.408G>A	16.37:g.81891938G>A						PLCG2_uc010chg.1_Silent_p.A136A	p.A136A	NM_002661	NP_002652	P16885	PLCG2_HUMAN			4	560	+			136					D3DUL3|Q3ZTS2|Q59H45|Q969T5	Silent	SNP	ENST00000359376.3	37	c.408G>A	CCDS42204.1																																																																																				0.478	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1		
TP53	7157	broad.mit.edu	37	17	7577535	7577535	+	Missense_Mutation	SNP	C	C	G	rs587782329		TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr17:7577535C>G	ENST00000269305.4	-	7	935	c.746G>C	c.(745-747)aGg>aCg	p.R249T	TP53_ENST00000413465.2_Missense_Mutation_p.R249T|TP53_ENST00000455263.2_Missense_Mutation_p.R249T|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R249T|TP53_ENST00000445888.2_Missense_Mutation_p.R249T|TP53_ENST00000420246.2_Missense_Mutation_p.R249T	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	249	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934571). {ECO:0000269|PubMed:1694291, ECO:0000269|PubMed:16959974}.|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (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.R249M(38)|p.R249K(20)|p.R249T(16)|p.0?(8)|p.?(5)|p.R249fs*96(4)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.R249_I251delRPI(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)	GAGGATGGGCCTCCGGTTCAT	0.567		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		100	Substitution - Missense(74)|Whole gene deletion(8)|Deletion - In frame(8)|Deletion - Frameshift(5)|Unknown(5)	p.R249S(303)|p.R249M(25)|p.R249G(24)|p.R249W(23)|p.R249T(16)|p.R249K(14)|p.0?(7)|p.R249R(6)|p.R249fs*96(6)|p.M246_P250delMNRRP(2)|p.R249fs*14(2)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.R249_P250insR(1)|p.R249_P250>SS(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*19(1)|p.R249_T256delRPILTIIT(1)|p.R249fs*15(1)|p.R249_I251delRPI(1)	lung(22)|upper_aerodigestive_tract(12)|breast(8)|large_intestine(7)|liver(7)|stomach(6)|haematopoietic_and_lymphoid_tissue(5)|biliary_tract(5)|oesophagus(5)|skin(4)|bone(4)|central_nervous_system(3)|ovary(3)|adrenal_gland(2)|urinary_tract(2)|pancreas(2)|peritoneum(1)|soft_tissue(1)|prostate(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(745-747)AGG>ACG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							154.0	113.0	127.0					17																	7577535		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577535C>G	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.746G>C	17.37:g.7577535C>G	ENSP00000269305:p.Arg249Thr	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R249T|TP53_uc002gih.2_Missense_Mutation_p.R249T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R117T|TP53_uc010cng.1_Missense_Mutation_p.R117T|TP53_uc002gii.1_Missense_Mutation_p.R117T|TP53_uc010cnh.1_Missense_Mutation_p.R249T|TP53_uc010cni.1_Missense_Mutation_p.R249T|TP53_uc002gij.2_Missense_Mutation_p.R249T|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R156T|TP53_uc002gio.2_Missense_Mutation_p.R117T	p.R249T	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	940	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	249		R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> I (in a sporadic cancer; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.746G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045352	0.75846	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99866	-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3	4.62	3.64	0.41730	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99832	0.9924	M	0.85462	2.755	0.50813	D	0.999891	D;D;D;D;D	0.89917	0.998;1.0;0.998;0.995;1.0	D;D;D;D;D	0.81914	0.968;0.995;0.986;0.955;0.992	D	0.96726	0.9536	10	0.87932	D	0	-3.0658	12.8645	0.57932	0.0:0.8349:0.1651:0.0	.	249;249;249;249;249	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	T	249;249;249;249;249;249;238;117	ENSP00000410739:R249T;ENSP00000352610:R249T;ENSP00000269305:R249T;ENSP00000398846:R249T;ENSP00000391127:R249T;ENSP00000391478:R249T;ENSP00000425104:R117T	ENSP00000269305:R249T	R	-	2	0	TP53	7518260	0.835000	0.29415	0.998000	0.56505	0.801000	0.45260	7.609000	0.82925	1.295000	0.44724	0.462000	0.41574	AGG		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
DDX5	1655	broad.mit.edu	37	17	62500099	62500102	+	Splice_Site	DEL	ACAG	ACAG	-			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr17:62500099_62500102delACAG	ENST00000225792.5	-	4	841_843	c.440_442delCTGT	c.(439-444)tctgta>tta	p.SV147fs	CEP95_ENST00000556440.2_5'Flank|DDX5_ENST00000450599.2_Intron|MIR5047_ENST00000579212.1_RNA|DDX5_ENST00000580026.1_5'Flank|DDX5_ENST00000578804.1_Splice_Site_p.SV147fs	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	147	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TCCCAAACTTACAGACAATGTTTT	0.397			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)	uc002jek.2				Dom	yes		17	17q21	1655	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5			E	ETV4		prostate		0				ovary(2)|lung(1)	3						c.e4+1		DEAD (Asp-Glu-Ala-Asp) box polypeptide 5																																				SO:0001630	splice_region_variant	1655				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr17:62500099_62500102delACAG	AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"""DEAD-boxes"""	2746	protein-coding gene	gene with protein product		180630	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"""	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.441+1CTGT>-	17.37:g.62500099_62500102delACAG						DDX5_uc010deh.2_Splice_Site_p.S147_splice|DDX5_uc002jej.2_Splice_Site_p.S42_splice|DDX5_uc010wqa.1_Intron|DDX5_uc002jel.1_5'Flank	p.S147_splice	NM_004396	NP_004387	P17844	DDX5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		4	688	-	Breast(5;2.15e-14)							B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Splice_Site	DEL	ENST00000225792.5	37	c.441_splice	CCDS11659.1																																																																																				0.397	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1	NM_004396	Frame_Shift_Del
GATA6	2627	broad.mit.edu	37	18	19762767	19762767	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr18:19762767G>A	ENST00000269216.3	+	5	1755	c.1478G>A	c.(1477-1479)cGa>cAa	p.R493Q	GATA6_ENST00000581694.1_Missense_Mutation_p.R493Q|RNU6-702P_ENST00000364982.1_RNA	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	493					blood coagulation (GO:0007596)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cellular response to BMP stimulus (GO:0071773)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to hypoxia (GO:0071456)|Clara cell differentiation (GO:0060486)|endodermal cell fate determination (GO:0007493)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|liver development (GO:0001889)|lung saccule development (GO:0060430)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|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 beta1 production (GO:0032911)|negative regulation of transforming growth factor beta2 production (GO:0032912)|organ formation (GO:0048645)|outflow tract septum morphogenesis (GO:0003148)|pancreatic A cell differentiation (GO:0003310)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to growth factor (GO:0070848)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)|tube morphogenesis (GO:0035239)|type B pancreatic cell differentiation (GO:0003309)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			ACCAGGAAACGAAAACCTAAG	0.313																																					Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999)	uc002ktt.1																			0				central_nervous_system(3)	3						c.(1477-1479)CGA>CAA		GATA binding protein 6							53.0	55.0	55.0					18																	19762767		2203	4300	6503	SO:0001583	missense	2627				blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr18:19762767G>A	U66075	CCDS11872.1	18q11-q12	2013-01-25	2001-11-28		ENSG00000141448	ENSG00000141448		"""GATA zinc finger domain containing"""	4174	protein-coding gene	gene with protein product		601656	"""GATA-binding protein 6"""			8975704	Standard	XM_005258248		Approved		uc002ktt.2	Q92908	OTTHUMG00000131767	ENST00000269216.3:c.1478G>A	18.37:g.19762767G>A	ENSP00000269216:p.Arg493Gln					GATA6_uc002ktu.1_Missense_Mutation_p.R493Q	p.R493Q	NM_005257	NP_005248	Q92908	GATA6_HUMAN	STAD - Stomach adenocarcinoma(5;0.106)		5	1743	+	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		493					B0YJ17|P78327	Missense_Mutation	SNP	ENST00000269216.3	37	c.1478G>A	CCDS11872.1	.	.	.	.	.	.	.	.	.	.	G	34	5.401407	0.96030	.	.	ENSG00000141448	ENST00000269216	D	0.99698	-6.44	5.97	5.97	0.96955	Zinc finger, NHR/GATA-type (1);	0.057841	0.64402	D	0.000002	D	0.99764	0.9904	M	0.89353	3.025	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.97767	1.0224	10	0.87932	D	0	-6.8388	20.4251	0.99070	0.0:0.0:1.0:0.0	.	493	Q92908	GATA6_HUMAN	Q	493	ENSP00000269216:R493Q	ENSP00000269216:R493Q	R	+	2	0	GATA6	18016765	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.476000	0.97823	2.829000	0.97493	0.650000	0.86243	CGA		0.313	GATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254696.1	NM_005257	
CREB3L3	84699	broad.mit.edu	37	19	4168400	4168400	+	Missense_Mutation	SNP	C	C	T	rs147422200		TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr19:4168400C>T	ENST00000078445.2	+	6	914	c.767C>T	c.(766-768)tCg>tTg	p.S256L	CREB3L3_ENST00000595923.1_Missense_Mutation_p.S255L|CREB3L3_ENST00000252587.3_Missense_Mutation_p.S196L|CREB3L3_ENST00000602147.1_Intron|CREB3L3_ENST00000602257.1_Missense_Mutation_p.S254L	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	256	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		AACAAGCAGTCGGCGCAAGAA	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		17015	0.0		0.001	False		,,,				2504	0.0					uc002lzl.2																			0				ovary(1)|skin(1)	2						c.(766-768)TCG>TTG		cAMP responsive element binding protein 3-like							75.0	62.0	66.0					19																	4168400		2203	4300	6503	SO:0001583	missense	84699				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:4168400C>T		CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"""basic leucine zipper proteins"""	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.767C>T	19.37:g.4168400C>T	ENSP00000078445:p.Ser256Leu					CREB3L3_uc002lzm.2_Missense_Mutation_p.S246L|CREB3L3_uc010xib.1_Missense_Mutation_p.S245L|CREB3L3_uc010xic.1_Intron	p.S256L	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)	6	883	+			256			Basic motif.|Cytoplasmic (Potential).		B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	ENST00000078445.2	37	c.767C>T	CCDS12121.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	23.2	4.381349	0.82792	.	.	ENSG00000060566	ENST00000078445;ENST00000381943;ENST00000252587	T;T	0.62364	0.03;0.03	5.06	5.06	0.68205	Basic-leucine zipper (bZIP) transcription factor (3);Eukaryotic transcription factor, Skn-1-like, DNA-binding (1);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	D	0.87168	0.6110	H	0.98005	4.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.92004	0.5613	10	0.87932	D	0	-23.6835	17.3508	0.87323	0.0:1.0:0.0:0.0	.	254;255;256	B7ZL69;Q68CJ9-2;Q68CJ9	.;.;CR3L3_HUMAN	L	256;256;196	ENSP00000078445:S256L;ENSP00000252587:S196L	ENSP00000078445:S256L	S	+	2	0	CREB3L3	4119400	1.000000	0.71417	0.953000	0.39169	0.366000	0.29705	7.412000	0.80091	2.507000	0.84556	0.655000	0.94253	TCG		0.532	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	NM_032607	
RAVER1	125950	broad.mit.edu	37	19	10434119	10434119	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr19:10434119C>T	ENST00000293677.6	-	4	1012	c.931G>A	c.(931-933)Gtc>Atc	p.V311I	CTD-2369P2.12_ENST00000586529.1_5'Flank	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	294	Interaction with PTBP1. {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CAGAAGGAGACTCGCAGGTGG	0.716																																						uc002moa.2																			0				ovary(1)	1						c.(931-933)GTC>ATC		RAVER1							14.0	19.0	17.0					19																	10434119		2057	4198	6255	SO:0001583	missense	125950					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr19:10434119C>T		CCDS45960.1	19p13.2	2013-02-12				ENSG00000161847		"""RNA binding motif (RRM) containing"""	30296	protein-coding gene	gene with protein product		609950				11853319, 11724819	Standard	NM_133452		Approved	KIAA1978	uc002moa.3	Q8IY67		ENST00000293677.6:c.931G>A	19.37:g.10434119C>T	ENSP00000293677:p.Val311Ile						p.V311I	NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		4	1011	-			294			RRM 3.		A6NMU4|Q8IY60|Q8TF24	Missense_Mutation	SNP	ENST00000293677.6	37	c.931G>A	CCDS45960.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.312408	0.60414	.	.	ENSG00000161847	ENST00000293677;ENST00000331131	T	0.09255	3.0	4.52	3.48	0.39840	.	0.264594	0.29480	N	0.012035	T	0.20333	0.0489	M	0.80616	2.505	0.38299	D	0.942917	B	0.28419	0.211	B	0.38296	0.27	T	0.04796	-1.0926	10	0.72032	D	0.01	-18.6999	10.29	0.43590	0.0:0.9004:0.0:0.0996	.	311	E9PAU2	.	I	311;294	ENSP00000293677:V311I	ENSP00000293677:V311I	V	-	1	0	RAVER1	10295119	1.000000	0.71417	0.981000	0.43875	0.962000	0.63368	5.632000	0.67819	0.897000	0.36392	0.407000	0.27541	GTC		0.716	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451227.1	NM_133452	
GATAD2A	54815	broad.mit.edu	37	19	19576172	19576172	+	Silent	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr19:19576172C>T	ENST00000360315.3	+	2	330	c.18C>T	c.(16-18)tgC>tgT	p.C6C	GATAD2A_ENST00000358713.3_Silent_p.C6C|GATAD2A_ENST00000429563.2_5'Flank|GATAD2A_ENST00000404158.1_Silent_p.C6C|GATAD2A_ENST00000252577.5_Silent_p.C6C|GATAD2A_ENST00000537887.1_5'UTR	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	6					anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						AAGAAGCATGCCGAACACGGA	0.473																																						uc010xqt.1																			0					0						c.(16-18)TGC>TGT		GATA zinc finger domain containing 2A							111.0	106.0	108.0					19																	19576172		1568	3582	5150	SO:0001819	synonymous_variant	54815				DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:19576172C>T	AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"""GATA zinc finger domain containing"""	29989	protein-coding gene	gene with protein product	"""p66 alpha"""	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.18C>T	19.37:g.19576172C>T						GATAD2A_uc010xqu.1_5'UTR|GATAD2A_uc010xqv.1_Silent_p.C25C|GATAD2A_uc010xqw.1_5'UTR	p.C6C	NM_017660	NP_060130	Q86YP4	P66A_HUMAN			2	330	+			6					B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Silent	SNP	ENST00000360315.3	37	c.18C>T	CCDS12402.2																																																																																				0.473	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326671.4	NM_017660	
PLEKHG2	64857	broad.mit.edu	37	19	39908646	39908646	+	Silent	SNP	C	C	G			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr19:39908646C>G	ENST00000409794.3	+	9	1834	c.984C>G	c.(982-984)ccC>ccG	p.P328P	PLEKHG2_ENST00000425673.1_Silent_p.P328P|PLEKHG2_ENST00000458508.2_Silent_p.P269P|PLEKHG2_ENST00000378550.1_Silent_p.P328P|PLEKHG2_ENST00000409797.2_Silent_p.P328P	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	328	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGGGTGGCCCCCGGCTACGAG	0.662																																						uc010xuz.1																			0				skin(2)|pancreas(1)|breast(1)	4						c.(982-984)CCC>CCG		common-site lymphoma/leukemia guanine nucleotide							16.0	18.0	17.0					19																	39908646		2200	4299	6499	SO:0001819	synonymous_variant	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39908646C>G	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.984C>G	19.37:g.39908646C>G						PLEKHG2_uc010xuy.1_Silent_p.P269P|PLEKHG2_uc002olj.2_Silent_p.P328P|PLEKHG2_uc010xva.1_Silent_p.P135P	p.P328P	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		9	1309	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		328			PH.		B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Silent	SNP	ENST00000409794.3	37	c.984C>G	CCDS33022.2	.	.	.	.	.	.	.	.	.	.	c	10.27	1.304018	0.23736	.	.	ENSG00000090924	ENST00000205135	T	0.68479	-0.33	4.65	3.6	0.41247	.	0.170647	0.40144	N	0.001167	T	0.73194	0.3556	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74426	-0.3669	7	0.49607	T	0.09	.	11.9028	0.52692	0.1742:0.8258:0.0:0.0	.	.	.	.	R	225	ENSP00000205135:P225R	ENSP00000205135:P225R	P	+	2	0	PLEKHG2	44600486	0.413000	0.25400	1.000000	0.80357	0.941000	0.58515	-0.168000	0.09925	1.314000	0.45095	0.556000	0.70494	CCC		0.662	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835	
KLK5	25818	broad.mit.edu	37	19	51453308	51453308	+	Silent	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr19:51453308G>A	ENST00000336334.3	-	3	490	c.138C>T	c.(136-138)agC>agT	p.S46S	CTB-147C22.8_ENST00000594939.1_RNA|KLK5_ENST00000593428.1_Silent_p.S46S|CTB-147C22.8_ENST00000601506.1_RNA|KLK5_ENST00000391809.2_Silent_p.S46S	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	46				Missing (in Ref. 3; AAG33358). {ECO:0000305}.	epidermis development (GO:0008544)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	epidermal lamellar body (GO:0097209)|extracellular space (GO:0005615)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		GGTCCTGGTTGCTCCCAGAGG	0.612																																						uc002pue.2																			0					0						c.(136-138)AGC>AGT		kallikrein-related peptidase 5 preproprotein							43.0	40.0	41.0					19																	51453308		2203	4300	6503	SO:0001819	synonymous_variant	25818				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr19:51453308G>A	AF135028	CCDS12810.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167754		"""Kallikreins"""	6366	protein-coding gene	gene with protein product		605643	"""kallikrein 5"""			10514489, 10608802, 1680072, 4, 16800723, 17012259	Standard	NM_012427		Approved	SCTE, KLK-L2	uc002puf.3	Q9Y337		ENST00000336334.3:c.138C>T	19.37:g.51453308G>A						KLK5_uc002puf.2_Silent_p.S46S|KLK5_uc002pug.2_Silent_p.S46S	p.S46S	NM_001077491	NP_001070959	Q9Y337	KLK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)	4	356	-		all_neural(266;0.026)	46	Missing (in Ref. 3; AAG33358).				Q53ZR3|Q9HBG8	Silent	SNP	ENST00000336334.3	37	c.138C>T	CCDS12810.1																																																																																				0.612	KLK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465057.1	NM_012427	
SUCLG1	8802	broad.mit.edu	37	2	84676841	84676841	+	Missense_Mutation	SNP	C	C	T	rs559133044		TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr2:84676841C>T	ENST00000393868.2	-	2	343	c.133G>A	c.(133-135)Gct>Act	p.A45T		NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	45					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	TGCCGAGAAGCTGTGTAGGAA	0.299																																					Ovarian(48;203 1101 37206 40305 50790)	uc002son.2																			0					0						c.(133-135)GCT>ACT		succinate-CoA ligase, GDP-forming alpha subunit	Succinic acid(DB00139)						56.0	57.0	56.0					2																	84676841		2203	4299	6502	SO:0001583	missense	8802				tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity	g.chr2:84676841C>T	Z68204	CCDS1967.2	2p11.3	2008-02-05	2008-01-08		ENSG00000163541	ENSG00000163541	6.2.1.4		11449	protein-coding gene	gene with protein product		611224	"""succinate-CoA ligase, GDP-forming, alpha subunit"""			9128182	Standard	NM_003849		Approved		uc002son.3	P53597	OTTHUMG00000130023	ENST00000393868.2:c.133G>A	2.37:g.84676841C>T	ENSP00000377446:p.Ala45Thr					SUCLG1_uc010ysk.1_Missense_Mutation_p.A32T	p.A45T	NM_003849	NP_003840	P53597	SUCA_HUMAN			2	326	-			45					Q9BWB0|Q9UNP6	Missense_Mutation	SNP	ENST00000393868.2	37	c.133G>A	CCDS1967.2	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383778	0.61845	.	.	ENSG00000163541	ENST00000393868	D	0.88046	-2.33	6.08	1.83	0.25207	.	0.324509	0.36665	N	0.002477	T	0.69672	0.3137	N	0.08118	0	0.41825	D	0.990041	B;B	0.22414	0.012;0.069	B;B	0.15870	0.002;0.014	T	0.56607	-0.7951	10	0.40728	T	0.16	-12.034	5.8368	0.18611	0.1556:0.6062:0.0:0.2382	.	45;45	B7Z438;P53597	.;SUCA_HUMAN	T	45	ENSP00000377446:A45T	ENSP00000377446:A45T	A	-	1	0	SUCLG1	84530352	0.988000	0.35896	0.170000	0.22879	0.448000	0.32197	2.937000	0.48979	0.074000	0.16767	0.655000	0.94253	GCT		0.299	SUCLG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252298.2	NM_003849	
KIAA1211L	343990	broad.mit.edu	37	2	99412664	99412664	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr2:99412664C>T	ENST00000397899.2	-	9	2999	c.2668G>A	c.(2668-2670)Gct>Act	p.A890T		NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	890																	CGGTCCACAGCGGGCTTCACA	0.498																																						uc002szf.1																			0					0						c.(2668-2670)GCT>ACT		hypothetical protein LOC343990							138.0	135.0	136.0					2																	99412664		1885	4109	5994	SO:0001583	missense	343990							g.chr2:99412664C>T	BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872			33454	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 55"""	C2orf55			Standard	NM_207362		Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.2668G>A	2.37:g.99412664C>T	ENSP00000380996:p.Ala890Thr						p.A890T	NM_207362	NP_997245	Q6NV74	CB055_HUMAN			9	2962	-			890						Missense_Mutation	SNP	ENST00000397899.2	37	c.2668G>A	CCDS42720.1	.	.	.	.	.	.	.	.	.	.	C	3.577	-0.086344	0.07097	.	.	ENSG00000196872	ENST00000397899	T	0.49432	0.78	5.17	-10.3	0.00346	.	0.957751	0.08627	N	0.917609	T	0.18341	0.0440	N	0.16478	0.41	0.09310	N	1	B	0.16396	0.017	B	0.08055	0.003	T	0.08848	-1.0702	10	0.14252	T	0.57	6.4304	1.7216	0.02913	0.3349:0.0993:0.3343:0.2316	.	890	Q6NV74	CB055_HUMAN	T	890	ENSP00000380996:A890T	ENSP00000380996:A890T	A	-	1	0	C2orf55	98779096	0.000000	0.05858	0.000000	0.03702	0.128000	0.20619	-5.126000	0.00149	-3.326000	0.00186	-0.300000	0.09419	GCT		0.498	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329933.1	NM_207362	
CFAP221	200373	broad.mit.edu	37	2	120362804	120362805	+	Frame_Shift_Ins	INS	-	-	CACT			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr2:120362804_120362805insCACT	ENST00000413369.3	+	11	1159_1160	c.1072_1073insCACT	c.(1072-1074)gcafs	p.-359fs	PCDP1_ENST00000602047.1_Frame_Shift_Ins_p.-73fs|PCDP1_ENST00000597189.1_3'UTR	NM_001271049.1	NP_001257978																Colorectal(110;0.196)					GATGAAGGAGGCACTCTTTGAA	0.386																																						uc002tmb.2																			0					0						c.(214-216)GCAfs		primary ciliary dyskinesia protein 1																																				SO:0001589	frameshift_variant	200373					cilium	calmodulin binding	g.chr2:120362804_120362805insCACT																												ENST00000413369.3:c.1073_1076dupCACT	2.37:g.120362805_120362808dupCACT	ENSP00000393222:p.Leu359fs					PCDP1_uc010yyq.1_Frame_Shift_Ins_p.A202fs	p.A72fs	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN			12	1306_1307	+	Colorectal(110;0.196)		358						Frame_Shift_Ins	INS	ENST00000413369.3	37	c.214_215insCACT	CCDS33282.2																																																																																				0.386	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464236.1		
THSD7B	80731	broad.mit.edu	37	2	137928455	137928455	+	Missense_Mutation	SNP	G	G	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr2:137928455G>T	ENST00000409968.1	+	7	1848	c.1670G>T	c.(1669-1671)gGa>gTa	p.G557V	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.G557V|THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000413152.2_Missense_Mutation_p.G526V			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	557						integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCTGATCATGGAAAATGTGGC	0.522																																						uc002tva.1																			0				ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(1576-1578)GGA>GTA		thrombospondin, type I, domain containing 7B							109.0	102.0	104.0					2																	137928455		1999	4172	6171	SO:0001583	missense	80731							g.chr2:137928455G>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.1670G>T	2.37:g.137928455G>T	ENSP00000387145:p.Gly557Val					THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.G416V	p.G526V	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	6	1577	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.1577G>T		.	.	.	.	.	.	.	.	.	.	G	22.2	4.255294	0.80135	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.24350	2.4;2.25;1.86	5.91	5.91	0.95273	.	0.196725	0.53938	D	0.000051	T	0.34308	0.0893	N	0.16862	0.45	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.71656	0.974;0.974	T	0.05566	-1.0877	10	0.25106	T	0.35	.	17.2153	0.86941	0.0:0.0:1.0:0.0	.	557;526	Q9C0I4;C9JKN6	THS7B_HUMAN;.	V	557;557;526	ENSP00000387145:G557V;ENSP00000272643:G557V;ENSP00000413841:G526V	ENSP00000272643:G557V	G	+	2	0	THSD7B	137644925	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	3.518000	0.53451	2.793000	0.96121	0.655000	0.94253	GGA		0.522	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9	
GFRA4	64096	broad.mit.edu	37	20	3641311	3641311	+	Frame_Shift_Del	DEL	C	C	-			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr20:3641311delC	ENST00000319242.3	-	3	588	c.589delG	c.(589-591)gcafs	p.A197fs	GFRA4_ENST00000290417.2_Intron			Q9GZZ7	GFRA4_HUMAN	GDNF family receptor alpha 4	197					negative regulation of ossification (GO:0030279)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)			large_intestine(1)|lung(2)	3						GCGGTGCCTGCGGGGACCCTG	0.731																																						uc002wio.2																			0					0						c.(589-591)GCAfs		GDNF family receptor alpha 4 isoform b							5.0	7.0	6.0					20																	3641311		2070	4026	6096	SO:0001589	frameshift_variant	64096					anchored to membrane|extracellular region|plasma membrane	receptor activity	g.chr20:3641311delC	AF253318	CCDS13055.1, CCDS13056.1	20p13-p12	2008-07-16			ENSG00000125861	ENSG00000125861			13821	protein-coding gene	gene with protein product	"""persephin receptor"""					10958791, 15225646	Standard	XM_005260793		Approved		uc002win.3	Q9GZZ7	OTTHUMG00000031748	ENST00000319242.3:c.589delG	20.37:g.3641311delC	ENSP00000313423:p.Ala197fs					GFRA4_uc002win.2_Intron|GFRA4_uc002wip.1_Frame_Shift_Del_p.P170fs	p.A197fs	NM_145762	NP_665705	Q9GZZ7	GFRA4_HUMAN			3	589	-			197					Q5JT74|Q9H191|Q9H192	Frame_Shift_Del	DEL	ENST00000319242.3	37	c.589delG	CCDS13056.1																																																																																				0.731	GFRA4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077744.1	NM_145762	
PROKR2	128674	broad.mit.edu	37	20	5283350	5283350	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr20:5283350C>T	ENST00000217270.3	-	2	490	c.491G>A	c.(490-492)cGg>cAg	p.R164Q	PROKR2_ENST00000546004.1_Missense_Mutation_p.R164Q	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	164			R -> Q (in HH3; phenotype consistent with Kallmann syndrome). {ECO:0000269|PubMed:17054399}.		circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						ATAATTCATCCGTGGTTTCAA	0.493										HNSCC(71;0.22)																												uc010zqw.1																			0				ovary(3)|central_nervous_system(1)|pancreas(1)	5	GRCh37	CM065402	PROKR2	M		c.(490-492)CGG>CAG		prokineticin receptor 2							104.0	112.0	109.0					20																	5283350		2203	4300	6503	SO:0001583	missense	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5283350C>T	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"""GPCR / Class A : Prokineticin receptors"""	15836	protein-coding gene	gene with protein product		607123	"""G protein-coupled receptor 73-like 1"", ""Kallmann syndrome 3 (autosomal dominant)"""	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.491G>A	20.37:g.5283350C>T	ENSP00000217270:p.Arg164Gln	HNSCC(71;0.22)				PROKR2_uc010zqx.1_Missense_Mutation_p.R164Q|PROKR2_uc010zqy.1_Missense_Mutation_p.R164Q	p.R164Q	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN			2	491	-			164		R -> Q (in KAL3).	Cytoplasmic (Potential).		A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	37	c.491G>A	CCDS13089.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.642942	0.67244	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.39229	1.09;1.09	5.07	5.07	0.68467	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.62405	0.2425	M	0.63169	1.94	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.65553	-0.6140	10	0.72032	D	0.01	.	15.9344	0.79691	0.0:1.0:0.0:0.0	.	164	Q8NFJ6	PKR2_HUMAN	Q	164	ENSP00000440790:R164Q;ENSP00000217270:R164Q	ENSP00000217270:R164Q	R	-	2	0	PROKR2	5231350	1.000000	0.71417	1.000000	0.80357	0.081000	0.17604	7.346000	0.79347	2.354000	0.79902	0.655000	0.94253	CGG		0.493	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773	
TFAP2C	7022	broad.mit.edu	37	20	55206728	55206728	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr20:55206728C>A	ENST00000201031.2	+	2	759	c.516C>A	c.(514-516)caC>caA	p.H172Q	TFAP2C_ENST00000544508.1_Missense_Mutation_p.H3Q	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	172					cell-cell signaling (GO:0007267)|cerebral cortex development (GO:0021987)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|forebrain neuron fate commitment (GO:0021877)|germ-line stem cell maintenance (GO:0030718)|hair follicle development (GO:0001942)|keratinocyte development (GO:0003334)|male gonad development (GO:0008584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermis development (GO:0045682)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sebaceous gland development (GO:0048733)|somatic stem cell maintenance (GO:0035019)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			ACATGCCTCACCAGATGGACG	0.711																																						uc002xya.2																			0				central_nervous_system(1)	1						c.(514-516)CAC>CAA		transcription factor AP-2 gamma							17.0	17.0	17.0					20																	55206728		2201	4299	6500	SO:0001583	missense	7022				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr20:55206728C>A		CCDS13454.1	20q13.2	2008-07-17	2001-11-28		ENSG00000087510	ENSG00000087510			11744	protein-coding gene	gene with protein product	"""estrogen receptor factor 1"""	601602	"""transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma)"""			8661133	Standard	NM_003222		Approved	AP2-GAMMA, ERF1, TFAP2G, hAP-2g	uc002xya.3	Q92754	OTTHUMG00000032805	ENST00000201031.2:c.516C>A	20.37:g.55206728C>A	ENSP00000201031:p.His172Gln					TFAP2C_uc010zzi.1_Missense_Mutation_p.H3Q	p.H172Q	NM_003222	NP_003213	Q92754	AP2C_HUMAN	Colorectal(105;0.229)		2	759	+			172					B4DWK3|O00685|O00730|Q86V30|Q8IVB6|Q9P1X2	Missense_Mutation	SNP	ENST00000201031.2	37	c.516C>A	CCDS13454.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.023643	0.35701	.	.	ENSG00000087510	ENST00000201031;ENST00000544508	T;D	0.97161	-1.32;-4.27	5.69	2.22	0.28083	.	0.550000	0.21086	N	0.080408	D	0.93716	0.7992	L	0.58510	1.815	0.50171	D	0.999853	B	0.02656	0.0	B	0.06405	0.002	D	0.87929	0.2709	10	0.27082	T	0.32	-21.9697	5.3873	0.16224	0.2651:0.5166:0.0:0.2183	.	172	Q92754	AP2C_HUMAN	Q	172;3	ENSP00000201031:H172Q;ENSP00000442274:H3Q	ENSP00000201031:H172Q	H	+	3	2	TFAP2C	54640135	0.002000	0.14202	0.992000	0.48379	0.705000	0.40729	-0.451000	0.06795	0.741000	0.32674	0.491000	0.48974	CAC		0.711	TFAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079823.2	NM_003222	
TMPRSS15	5651	broad.mit.edu	37	21	19698772	19698772	+	Missense_Mutation	SNP	G	G	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr21:19698772G>T	ENST00000284885.3	-	16	1931	c.1898C>A	c.(1897-1899)aCt>aAt	p.T633N		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	633	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GTGATAGCCAGTAGTAAAGTT	0.438																																						uc002ykw.2																			0				ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						c.(1897-1899)ACT>AAT		enterokinase precursor							218.0	188.0	198.0					21																	19698772		2203	4300	6503	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19698772G>T		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1898C>A	21.37:g.19698772G>T	ENSP00000284885:p.Thr633Asn						p.T633N	NM_002772	NP_002763	P98073	ENTK_HUMAN			16	1929	-			633			Extracellular (Potential).|CUB 2.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.1898C>A	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.645320	0.67358	.	.	ENSG00000154646	ENST00000284885	T	0.21361	2.01	5.27	4.33	0.51752	CUB (4);	0.216900	0.40385	N	0.001106	T	0.31575	0.0801	M	0.83384	2.64	0.31223	N	0.69725	D	0.56287	0.975	P	0.44394	0.448	T	0.50516	-0.8819	9	.	.	.	.	13.3819	0.60773	0.0:0.1593:0.8406:0.0	.	633	P98073	ENTK_HUMAN	N	633	ENSP00000284885:T633N	.	T	-	2	0	TMPRSS15	18620643	1.000000	0.71417	0.992000	0.48379	0.951000	0.60555	4.043000	0.57354	2.612000	0.88384	0.650000	0.86243	ACT		0.438	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772	
ADAMTS9	56999	broad.mit.edu	37	3	64527058	64527058	+	Silent	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr3:64527058G>A	ENST00000498707.1	-	35	5667	c.5325C>T	c.(5323-5325)ccC>ccT	p.P1775P	ADAMTS9_ENST00000295903.4_Silent_p.P1747P	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1775	GON. {ECO:0000255|PROSITE- ProRule:PRU00383}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CGTACTCTTTGGGGTGGTCAG	0.502																																						uc003dmg.2																			0				ovary(2)|urinary_tract(1)|skin(1)	4						c.(5323-5325)CCC>CCT		ADAM metallopeptidase with thrombospondin type 1							143.0	150.0	147.0					3																	64527058		2203	4300	6503	SO:0001819	synonymous_variant	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64527058G>A	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.5325C>T	3.37:g.64527058G>A						ADAMTS9_uc011bfo.1_Silent_p.P1747P|ADAMTS9_uc011bfp.1_Silent_p.P686P	p.P1775P	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	35	5357	-		Lung NSC(201;0.00682)	1775			GON.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Silent	SNP	ENST00000498707.1	37	c.5325C>T	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	G	9.741	1.164957	0.21538	.	.	ENSG00000163638	ENST00000481060	T	0.44083	0.93	5.75	3.91	0.45181	.	0.000000	0.85682	D	0.000000	T	0.51584	0.1683	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52011	-0.8632	7	0.87932	D	0	.	8.9099	0.35546	0.0:0.2257:0.501:0.2733	.	.	.	.	L	831	ENSP00000417521:P831L	ENSP00000417521:P831L	P	-	2	0	ADAMTS9	64502098	0.986000	0.35501	0.987000	0.45799	0.976000	0.68499	0.117000	0.15583	0.740000	0.32651	0.561000	0.74099	CCA		0.502	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1		
CNTN3	5067	broad.mit.edu	37	3	74334529	74334529	+	Silent	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr3:74334529C>T	ENST00000263665.6	-	19	2658	c.2631G>A	c.(2629-2631)acG>acA	p.T877T		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	877	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CCCGGACAGCCGTGTAATAGG	0.498																																						uc003dpm.1																			0				breast(3)|ovary(1)|skin(1)	5						c.(2629-2631)ACG>ACA		contactin 3 precursor							160.0	146.0	151.0					3																	74334529		2203	4300	6503	SO:0001819	synonymous_variant	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74334529C>T	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2631G>A	3.37:g.74334529C>T							p.T877T	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	19	2711	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	877			Fibronectin type-III 3.		B9EK50|Q9H039	Silent	SNP	ENST00000263665.6	37	c.2631G>A	CCDS33790.1																																																																																				0.498	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872	
POPDC2	64091	broad.mit.edu	37	3	119373376	119373376	+	Silent	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr3:119373376C>T	ENST00000264231.3	-	2	742	c.576G>A	c.(574-576)caG>caA	p.Q192Q	POPDC2_ENST00000468801.1_Silent_p.Q192Q|POPDC2_ENST00000538678.1_Silent_p.Q192Q|POPDC2_ENST00000474523.1_5'UTR|POPDC2_ENST00000493094.1_Silent_p.Q192Q	NM_022135.2	NP_071418.2	Q9HBU9	POPD2_HUMAN	popeye domain containing 2	192					regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sinoatrial node cell development (GO:0060931)	integral component of membrane (GO:0016021)	cAMP binding (GO:0030552)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		CCTCAGAAGGCTGTAGTGATT	0.562																																						uc003ecx.1																			0				central_nervous_system(1)	1						c.(574-576)CAG>CAA		popeye protein 2							90.0	84.0	86.0					3																	119373376		2203	4300	6503	SO:0001819	synonymous_variant	64091					integral to membrane		g.chr3:119373376C>T	AF204173	CCDS2992.1	3q13.33	2004-01-15			ENSG00000121577	ENSG00000121577			17648	protein-coding gene	gene with protein product		605823				10882522	Standard	NM_022135		Approved	POP2	uc031sbc.1	Q9HBU9	OTTHUMG00000159438	ENST00000264231.3:c.576G>A	3.37:g.119373376C>T						POPDC2_uc010hqw.1_Silent_p.Q192Q|POPDC2_uc003ecy.1_Silent_p.Q10Q	p.Q192Q	NM_022135	NP_071418	Q9HBU9	POPD2_HUMAN		GBM - Glioblastoma multiforme(114;0.242)	2	710	-			192					Q86UE7	Silent	SNP	ENST00000264231.3	37	c.576G>A	CCDS2992.1																																																																																				0.562	POPDC2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355378.1	NM_022135	
COPG1	22820	broad.mit.edu	37	3	128982760	128982760	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr3:128982760A>G	ENST00000314797.6	+	13	1246	c.1142A>G	c.(1141-1143)cAg>cGg	p.Q381R		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	381					COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)										GTGGTTGTCCAGGCCATCAGT	0.537																																						uc003els.2																			0				ovary(3)|breast(1)	4						c.(1141-1143)CAG>CGG		coatomer protein complex, subunit gamma 1							119.0	97.0	105.0					3																	128982760		2203	4300	6503	SO:0001583	missense	22820				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:128982760A>G	AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"""coat protein gamma-cop"""	615525	"""coatomer protein complex, subunit gamma"""	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.1142A>G	3.37:g.128982760A>G	ENSP00000325002:p.Gln381Arg					COPG_uc010htb.2_Missense_Mutation_p.Q287R	p.Q381R	NM_016128	NP_057212	Q9Y678	COPG_HUMAN			13	1242	+			381			HEAT 4.		A8K6M8|B3KMF6|Q54AC4	Missense_Mutation	SNP	ENST00000314797.6	37	c.1142A>G	CCDS33851.1	.	.	.	.	.	.	.	.	.	.	A	14.82	2.650323	0.47362	.	.	ENSG00000181789	ENST00000314797	T	0.25579	1.79	5.95	5.95	0.96441	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.33147	0.0853	N	0.17631	0.505	0.58432	D	0.99999	P	0.49559	0.925	D	0.67900	0.954	T	0.08534	-1.0717	10	0.17832	T	0.49	-27.4262	14.3757	0.66874	1.0:0.0:0.0:0.0	.	381	Q9Y678	COPG_HUMAN	R	381	ENSP00000325002:Q381R	ENSP00000325002:Q381R	Q	+	2	0	COPG	130465450	1.000000	0.71417	1.000000	0.80357	0.559000	0.35586	7.265000	0.78442	2.279000	0.76181	0.533000	0.62120	CAG		0.537	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355456.1	NM_016128	
ZIC1	7545	broad.mit.edu	37	3	147128086	147128086	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr3:147128086G>A	ENST00000282928.4	+	1	916	c.187G>A	c.(187-189)Gcc>Acc	p.A63T		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	63					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|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)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CGGCCAGACGGCCTTCACGTC	0.687																																						uc003ewe.2																			0				ovary(1)|central_nervous_system(1)	2						c.(187-189)GCC>ACC		zinc finger protein of the cerebellum 1							19.0	22.0	21.0					3																	147128086		2187	4290	6477	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128086G>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.187G>A	3.37:g.147128086G>A	ENSP00000282928:p.Ala63Thr						p.A63T	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			1	906	+			63					Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.187G>A	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779676	0.70107	.	.	ENSG00000152977	ENST00000282928	D	0.86627	-2.15	4.04	4.04	0.47022	.	0.000000	0.85682	D	0.000000	D	0.83482	0.5264	L	0.42245	1.32	0.80722	D	1	B	0.33299	0.407	B	0.34093	0.175	D	0.84635	0.0692	10	0.56958	D	0.05	.	16.1771	0.81858	0.0:0.0:1.0:0.0	.	63	Q15915	ZIC1_HUMAN	T	63	ENSP00000282928:A63T	ENSP00000282928:A63T	A	+	1	0	ZIC1	148610776	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.180000	0.94867	1.806000	0.52798	0.442000	0.29010	GCC		0.687	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412	
MED12L	116931	broad.mit.edu	37	3	150906259	150906259	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr3:150906259C>T	ENST00000474524.1	+	12	1783	c.1745C>T	c.(1744-1746)cCc>cTc	p.P582L	RNA5SP145_ENST00000363124.1_RNA|MED12L_ENST00000273432.4_Missense_Mutation_p.P442L|MED12L_ENST00000309237.4_Missense_Mutation_p.P582L|MED12L_ENST00000422248.2_Missense_Mutation_p.P582L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	582						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACACAGGCCCCCTCTTTGTGT	0.343																																						uc003eyp.2																			0				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(1744-1746)CCC>CTC		mediator of RNA polymerase II transcription,							179.0	177.0	177.0					3																	150906259		2202	4300	6502	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150906259C>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1745C>T	3.37:g.150906259C>T	ENSP00000417235:p.Pro582Leu					MED12L_uc011bnz.1_Missense_Mutation_p.P442L|MED12L_uc003eyn.2_Missense_Mutation_p.P582L|MED12L_uc003eyo.2_Missense_Mutation_p.P582L	p.P582L	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		12	1783	+			582					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.1745C>T	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	31	5.099272	0.94197	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524;ENST00000273432	T;T;T;T	0.61510	0.1;0.1;0.1;0.1	5.63	5.63	0.86233	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.000000	0.85682	D	0.000000	T	0.80670	0.4667	M	0.87900	2.915	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.996	D	0.83518	0.0084	10	0.87932	D	0	-19.053	19.2768	0.94034	0.0:1.0:0.0:0.0	.	442;582;582;582	F8WAE6;Q86YW9;Q86YW9-2;Q86YW9-3	.;MD12L_HUMAN;.;.	L	582;582;582;442	ENSP00000403308:P582L;ENSP00000310760:P582L;ENSP00000417235:P582L;ENSP00000273432:P442L	ENSP00000273432:P442L	P	+	2	0	MED12L	152388949	1.000000	0.71417	0.931000	0.37212	0.986000	0.74619	6.812000	0.75226	2.653000	0.90120	0.650000	0.86243	CCC		0.343	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002	
LAMTOR3	8649	broad.mit.edu	37	4	100805284	100805284	+	Splice_Site	SNP	T	T	G			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr4:100805284T>G	ENST00000499666.2	-	6	430		c.e6-2		LAMTOR3_ENST00000515100.1_Splice_Site|LAMTOR3_ENST00000226522.8_Splice_Site	NM_001243736.1|NM_021970.3	NP_001230665.1|NP_068805.1	Q9UHA4	LTOR3_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 3						cellular protein localization (GO:0034613)|cellular response to amino acid stimulus (GO:0071230)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Ragulator complex (GO:0071986)				endometrium(1)|large_intestine(1)|lung(1)	3						TTGAACCACCTAAAAAGAAAA	0.308																																						uc003hvg.2																			0					0						c.e6-1		MAPK scaffold protein 1							49.0	53.0	52.0					4																	100805284		2203	4298	6501	SO:0001630	splice_region_variant	8649				cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	Ragulator complex	protein binding	g.chr4:100805284T>G	AF201947	CCDS3652.1, CCDS58920.1	4q24-q26	2012-02-28	2011-02-15	2011-02-15	ENSG00000109270	ENSG00000109270			15606	protein-coding gene	gene with protein product	"""MEK partner 1"""	603296	"""mitogen-activated protein kinase kinase 1 interacting protein 1"", ""MAPK scaffold protein 1"""	MAP2K1IP1, MAPKSP1		9733512, 15016825	Standard	NM_021970		Approved	MP1, MAPBP, Ragulator3	uc003hvg.2	Q9UHA4	OTTHUMG00000131050	ENST00000499666.2:c.238-2A>C	4.37:g.100805284T>G						MAPKSP1_uc003hvi.2_Splice_Site|MAPKSP1_uc003hvh.2_Splice_Site_p.V73_splice	p.V80_splice	NM_021970	NP_068805	Q9UHA4	LTOR3_HUMAN			6	487	-								B2R4A1|J3KMX4|Q9H364	Splice_Site	SNP	ENST00000499666.2	37	c.238_splice	CCDS3652.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.986549	0.74589	.	.	ENSG00000109270	ENST00000499666;ENST00000226522	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6795	0.69006	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	LAMTOR3	101024307	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.791000	0.75120	2.114000	0.64651	0.482000	0.46254	.		0.308	LAMTOR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253698.2	NM_021970	Intron
MTMR12	54545	broad.mit.edu	37	5	32255876	32255876	+	Splice_Site	SNP	T	T	C			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr5:32255876T>C	ENST00000382142.3	-	8	884		c.e8-2		MTMR12_ENST00000280285.5_Splice_Site|MTMR12_ENST00000264934.5_Splice_Site	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12							cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GCTGGCAATCTAGAAGAAAGA	0.418																																						uc003jhq.2																			0				ovary(1)	1						c.e8-1		myotubularin related protein 12							92.0	85.0	88.0					5																	32255876		2203	4300	6503	SO:0001630	splice_region_variant	54545					cytoplasm	phosphatase activity	g.chr5:32255876T>C	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	18191	protein-coding gene	gene with protein product		606501	"""phosphatidylinositol-3-phosphate associated protein"""	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.714-2A>G	5.37:g.32255876T>C						MTMR12_uc010iuk.2_Splice_Site_p.R238_splice|MTMR12_uc010iul.2_Splice_Site_p.R238_splice	p.R238_splice	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN			8	884	-								Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Splice_Site	SNP	ENST00000382142.3	37	c.714_splice	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	T	18.02	3.530688	0.64860	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3309	0.74208	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MTMR12	32291633	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	4.779000	0.62375	2.254000	0.74563	0.533000	0.62120	.		0.418	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061	Intron
SLCO6A1	133482	broad.mit.edu	37	5	101815988	101815988	+	Missense_Mutation	SNP	T	T	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr5:101815988T>A	ENST00000506729.1	-	2	680	c.509A>T	c.(508-510)aAa>aTa	p.K170I	SLCO6A1_ENST00000379807.3_Missense_Mutation_p.K170I|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.K170I|SLCO6A1_ENST00000514551.1_Intron|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.K170I|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.K170I			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CCATATTACTTTTTTTCTGTC	0.333																																						uc003knn.2																			0				ovary(3)|skin(3)|central_nervous_system(1)	7						c.(508-510)AAA>ATA		solute carrier organic anion transporter family,							114.0	118.0	117.0					5																	101815988		2203	4299	6502	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101815988T>A	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.509A>T	5.37:g.101815988T>A	ENSP00000421339:p.Lys170Ile					SLCO6A1_uc003kno.2_Missense_Mutation_p.K170I|SLCO6A1_uc003knp.2_Missense_Mutation_p.K170I|SLCO6A1_uc003knq.2_Missense_Mutation_p.K170I	p.K170I	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	2	681	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	170			Cytoplasmic (Potential).		A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.509A>T	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	T	5.871	0.344777	0.11126	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44	4.56	-2.95	0.05564	Major facilitator superfamily domain, general substrate transporter (1);	0.550372	0.17369	N	0.176729	T	0.66877	0.2834	L	0.47716	1.5	0.09310	N	1	B;B;B	0.22414	0.024;0.049;0.069	B;B;B	0.26517	0.039;0.07;0.027	T	0.57625	-0.7779	10	0.87932	D	0	.	1.1353	0.01754	0.1868:0.2683:0.1173:0.4275	.	170;170;170	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	I	170	ENSP00000421339:K170I;ENSP00000369135:K170I;ENSP00000373671:K170I;ENSP00000421990:K170I;ENSP00000369138:K170I	ENSP00000369135:K170I	K	-	2	0	SLCO6A1	101843887	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	-0.198000	0.09505	-0.440000	0.07211	-0.256000	0.11100	AAA		0.333	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488	
TRPC7	57113	broad.mit.edu	37	5	135692995	135692995	+	Silent	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr5:135692995C>T	ENST00000513104.1	-	2	363	c.81G>A	c.(79-81)cgG>cgA	p.R27R	TRPC7_ENST00000426057.2_Silent_p.R27R|TRPC7_ENST00000355180.3_Silent_p.R27R	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	27					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGGCGGGACCCCGGATGGCCT	0.612																																						uc003lbn.1																			0					0						c.(76-78)CGG>CGA		transient receptor potential cation channel,							52.0	60.0	57.0					5																	135692995		2114	4238	6352	SO:0001819	synonymous_variant	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135692995C>T	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.81G>A	5.37:g.135692995C>T						TRPC7_uc010jef.1_Silent_p.R18R|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Silent_p.R18R|TRPC7_uc010jei.1_Silent_p.R18R|TRPC7_uc010jej.1_5'UTR	p.R26R	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	81	-			27			Cytoplasmic (Potential).		A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Silent	SNP	ENST00000513104.1	37	c.78G>A	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	c	9.031	0.987222	0.18889	.	.	ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753	.	.	.	5.38	-5.0	0.03001	.	.	.	.	.	T	0.39200	0.1069	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37150	-0.9718	4	.	.	.	-18.7042	3.2559	0.06831	0.084:0.3601:0.206:0.3499	.	.	.	.	R	27	.	.	G	-	1	0	TRPC7	135720894	0.011000	0.17503	0.865000	0.33974	0.971000	0.66376	-0.959000	0.03853	-0.967000	0.03582	-0.766000	0.03442	GGG		0.612	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389	
PCDHA3	56145	broad.mit.edu	37	5	140182972	140182972	+	Silent	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr5:140182972C>T	ENST00000522353.2	+	1	2190	c.2190C>T	c.(2188-2190)ggC>ggT	p.G730G	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.G730G|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	730					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACCGAAGGCGACTGTGGGC	0.642																																						uc003lhf.2																			0				ovary(6)|skin(2)	8						c.(2188-2190)GGC>GGT		protocadherin alpha 3 isoform 1 precursor							76.0	82.0	80.0					5																	140182972		2203	4300	6503	SO:0001819	synonymous_variant	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140182972C>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.2190C>T	5.37:g.140182972C>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.G730G	p.G730G	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2190	+			730			Cytoplasmic (Potential).		O75286	Silent	SNP	ENST00000522353.2	37	c.2190C>T	CCDS54915.1																																																																																				0.642	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906	
MOG	4340	broad.mit.edu	37	6	29641071	29641071	+	IGR	SNP	C	C	G			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr6:29641071C>G	ENST00000376917.3	+	0	2160				ZFP57_ENST00000488757.1_Missense_Mutation_p.E273Q|ZFP57_ENST00000376881.3_Missense_Mutation_p.E253Q|ZFP57_ENST00000376883.1_Missense_Mutation_p.E253Q	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						CGTTTGAGCTCAGACTGGTCC	0.552																																						uc011dlw.1																			0				ovary(3)|skin(2)	5						c.(817-819)GAG>CAG		zinc finger protein 57 homolog							127.0	138.0	134.0					6																	29641071		1314	2577	3891	SO:0001628	intergenic_variant	346171				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	g.chr6:29641071C>G		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29641071C>G						ZFP57_uc003nnl.3_Missense_Mutation_p.E253Q	p.E273Q	NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN			4	968	-			189			C2H2-type 4.		A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	ENST00000376917.3	37	c.817G>C	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.384241	0.61845	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	T;T;T	0.51817	0.69;0.69;0.69	4.64	4.64	0.57946	.	0.000000	0.48767	D	0.000176	T	0.20414	0.0491	N	0.10945	0.07	0.09310	N	0.999995	P;P	0.51147	0.942;0.942	P;P	0.52957	0.714;0.714	T	0.05084	-1.0907	10	0.13853	T	0.58	-36.7201	11.1238	0.48306	0.0:0.8129:0.1871:0.0	.	273;253	Q9NU63-3;Q9NU63-2	.;.	Q	273;253;253	ENSP00000418259:E273Q;ENSP00000366078:E253Q;ENSP00000366080:E253Q	ENSP00000366078:E253Q	E	-	1	0	ZFP57	29749050	0.000000	0.05858	0.992000	0.48379	0.977000	0.68977	0.012000	0.13287	2.559000	0.86315	0.563000	0.77884	GAG		0.552	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433	
CLPSL1	340204	broad.mit.edu	37	6	35754859	35754859	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr6:35754859G>A	ENST00000373861.5	+	2	278	c.184G>A	c.(184-186)Gcg>Acg	p.A62T	CLPSL1_ENST00000542261.1_Missense_Mutation_p.A61T			A2RUU4	COLL1_HUMAN	colipase-like 1	62					digestion (GO:0007586)|lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	enzyme activator activity (GO:0008047)										GTCGCACTGCGCGGAGAAGGG	0.662																																						uc003old.3																			0				skin(1)	1						c.(184-186)GCG>ACG		hypothetical protein LOC340204 precursor							26.0	35.0	32.0					6																	35754859		2153	4249	6402	SO:0001583	missense	340204				digestion|lipid catabolic process	extracellular region	enzyme activator activity	g.chr6:35754859G>A		CCDS43456.1	6p21.31	2014-01-28	2012-02-06	2012-02-06	ENSG00000204140	ENSG00000204140			21251	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 127"""	C6orf127			Standard	NM_001010886		Approved	dJ510O8.6	uc003old.4	A2RUU4	OTTHUMG00000014582	ENST00000373861.5:c.184G>A	6.37:g.35754859G>A	ENSP00000362968:p.Ala62Thr						p.A62T	NM_001010886	NP_001010886	A2RUU4	CF127_HUMAN			2	241	+			62					A7E2T6|B2RPE2|B5G4V2|B6ZDM9|Q5T9G1	Missense_Mutation	SNP	ENST00000373861.5	37	c.184G>A	CCDS43456.1	.	.	.	.	.	.	.	.	.	.	G	9.410	1.080240	0.20309	.	.	ENSG00000204140	ENST00000373861;ENST00000373860;ENST00000542261;ENST00000428710	T;T	0.34472	1.36;1.36	2.05	-4.09	0.03951	.	1.356420	0.05734	N	0.600012	T	0.06050	0.0157	N	0.16790	0.44	0.09310	N	1	B	0.16396	0.017	B	0.11329	0.006	T	0.21518	-1.0243	10	0.33940	T	0.23	.	5.1482	0.14996	0.6169:0.0:0.2062:0.1769	.	62	A2RUU4	CF127_HUMAN	T	62;62;61;15	ENSP00000362968:A62T;ENSP00000438478:A61T	ENSP00000362967:A62T	A	+	1	0	C6orf127	35862837	0.000000	0.05858	0.000000	0.03702	0.562000	0.35680	-3.126000	0.00593	-2.182000	0.00764	-0.459000	0.05422	GCG		0.662	CLPSL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040317.2	NM_001010886	
STXBP5	134957	broad.mit.edu	37	6	147704054	147704054	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr6:147704054G>C	ENST00000321680.6	+	27	3334	c.3334G>C	c.(3334-3336)Ggg>Cgg	p.G1112R	STXBP5_ENST00000367480.3_Missense_Mutation_p.G1059R|STXBP5_ENST00000179882.6_Missense_Mutation_p.G767R|STXBP5_ENST00000367481.3_Missense_Mutation_p.G1076R	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	1112	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		AGATGAAAGAGGGCAGAAACT	0.483																																						uc003qlz.2																			0					0						c.(3334-3336)GGG>CGG		syntaxin binding protein 5 (tomosyn) isoform b							117.0	114.0	115.0					6																	147704054		2203	4300	6503	SO:0001583	missense	134957				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147704054G>C	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.3334G>C	6.37:g.147704054G>C	ENSP00000321826:p.Gly1112Arg					STXBP5_uc010khz.1_Missense_Mutation_p.G1076R|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Missense_Mutation_p.G767R	p.G1112R	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	27	3495	+		Ovarian(120;0.0164)	1112			v-SNARE coiled-coil homology.		Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	c.3334G>C	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679711	0.88542	.	.	ENSG00000164506	ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882	T;T;T;T	0.27720	1.78;1.65;1.96;2.65	5.41	5.41	0.78517	Synaptobrevin (1);	0.000000	0.85682	D	0.000000	T	0.58192	0.2105	M	0.86953	2.85	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.65138	-0.6241	10	0.87932	D	0	.	19.554	0.95333	0.0:0.0:1.0:0.0	.	1076;1112;767	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	R	1076;1112;1059;767	ENSP00000356451:G1076R;ENSP00000321826:G1112R;ENSP00000356450:G1059R;ENSP00000179882:G767R	ENSP00000179882:G767R	G	+	1	0	STXBP5	147745747	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	9.810000	0.99221	2.702000	0.92279	0.585000	0.79938	GGG		0.483	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1		
NDUFA4	4697	broad.mit.edu	37	7	10979661	10979661	+	Missense_Mutation	SNP	C	C	G			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:10979661C>G	ENST00000339600.5	-	1	222	c.24G>C	c.(22-24)caG>caC	p.Q8H	NDUFA4_ENST00000492822.1_5'UTR|RP5-855F16.1_ENST00000604183.1_lincRNA	NM_002489.3	NP_002480.1	O00483	NDUA4_HUMAN	NDUFA4, mitochondrial complex associated	8					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrial respiratory chain complex IV (GO:0005751)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|protein complex binding (GO:0032403)			large_intestine(2)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		GCTTCTTGGCCTGACCGATGA	0.547																																						uc003srx.1																			0					0						c.(22-24)CAG>CAC		NADH dehydrogenase (ubiquinone) 1 alpha	NADH(DB00157)						199.0	175.0	183.0					7																	10979661		2203	4300	6503	SO:0001583	missense	4697				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr7:10979661C>G	U94586	CCDS5357.1	7p21.3	2014-07-30	2014-07-30		ENSG00000189043	ENSG00000189043			7687	protein-coding gene	gene with protein product	"""complex I 9kDa subunit"", ""NADH-ubiquinone oxidoreductase MLRQ subunit"""	603833	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4 (9kD, MLRQ)"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa"""			9352085	Standard	NM_002489		Approved	MLRQ, CI-9k	uc003srx.2	O00483	OTTHUMG00000023880	ENST00000339600.5:c.24G>C	7.37:g.10979661C>G	ENSP00000339720:p.Gln8His						p.Q8H	NM_002489	NP_002480	O00483	NDUA4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.177)	1	153	-			8					A4D109|Q6FHN5	Missense_Mutation	SNP	ENST00000339600.5	37	c.24G>C	CCDS5357.1	.	.	.	.	.	.	.	.	.	.	C	7.848	0.723327	0.15439	.	.	ENSG00000189043	ENST00000339600	T	0.77489	-1.1	4.9	4.01	0.46588	.	0.064498	0.64402	D	0.000005	T	0.64571	0.2610	.	.	.	0.33484	D	0.587895	B	0.02656	0.0	B	0.01281	0.0	T	0.65792	-0.6082	9	0.32370	T	0.25	-6.7979	8.4747	0.33005	0.0:0.8921:0.0:0.1079	.	8	O00483	NDUA4_HUMAN	H	8	ENSP00000339720:Q8H	ENSP00000339720:Q8H	Q	-	3	2	NDUFA4	10946186	0.998000	0.40836	0.986000	0.45419	0.217000	0.24651	0.235000	0.17948	1.394000	0.46624	0.585000	0.79938	CAG		0.547	NDUFA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207507.3	NM_002489	
DNAH11	8701	broad.mit.edu	37	7	21611464	21611464	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:21611464G>A	ENST00000409508.3	+	8	1497	c.1466G>A	c.(1465-1467)aGa>aAa	p.R489K	DNAH11_ENST00000328843.6_Missense_Mutation_p.R489K	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	489	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAGCTGGAAAGACTGGAATTT	0.353									Kartagener syndrome																													uc003svc.2																			0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(1465-1467)AGA>AAA		dynein, axonemal, heavy chain 11							86.0	82.0	83.0					7																	21611464		1808	4071	5879	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21611464G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.1466G>A	7.37:g.21611464G>A	ENSP00000475939:p.Arg489Lys						p.R489K	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			8	1497	+			489			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.1466G>A		.	.	.	.	.	.	.	.	.	.	G	7.931	0.740776	0.15642	.	.	ENSG00000105877	ENST00000328843	T	0.52057	0.68	5.87	4.99	0.66335	Dynein heavy chain, domain-1 (1);	0.161343	0.51477	N	0.000082	T	0.15392	0.0371	N	0.01493	-0.835	0.30082	N	0.809069	B	0.20550	0.046	B	0.17098	0.017	T	0.31530	-0.9940	10	0.02654	T	1	.	6.824	0.23872	0.2249:0.0:0.7751:0.0	.	489	Q96DT5	DYH11_HUMAN	K	489	ENSP00000330671:R489K	ENSP00000330671:R489K	R	+	2	0	DNAH11	21577989	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.236000	0.58675	2.785000	0.95823	0.655000	0.94253	AGA		0.353	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
CHN2	1124	broad.mit.edu	37	7	29539565	29539565	+	Silent	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:29539565G>A	ENST00000222792.6	+	9	1352	c.822G>A	c.(820-822)gtG>gtA	p.V274V	CHN2_ENST00000546235.1_Silent_p.V259V|CHN2_ENST00000539389.1_Silent_p.V130V|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000421775.2_Intron|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000495789.2_Silent_p.V287V|CHN2_ENST00000539406.1_Silent_p.V349V|CHN2_ENST00000409041.4_Silent_p.V138V|CHN2_ENST00000424025.2_Silent_p.V93V|CHN2_ENST00000439711.2_Silent_p.V138V	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	274					positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						TCAAGAAAGTGTACTGTTGTG	0.448																																					Ovarian(1;44 48 13232 18918 31480)	uc003szz.2																			0				ovary(2)	2						c.(820-822)GTG>GTA		beta chimerin isoform 2							122.0	104.0	110.0					7																	29539565		2203	4300	6503	SO:0001819	synonymous_variant	1124				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr7:29539565G>A	L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1944	protein-coding gene	gene with protein product	"""beta chimerin"", ""chimaerin 2"""	602857	"""chimerin (chimaerin) 2"""			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.822G>A	7.37:g.29539565G>A						CHN2_uc011jzs.1_Silent_p.V349V|CHN2_uc010kva.2_Silent_p.V44V|CHN2_uc010kvb.2_Intron|CHN2_uc010kvc.2_Silent_p.V239V|CHN2_uc011jzt.1_Silent_p.V287V|CHN2_uc010kvd.2_Silent_p.V130V|CHN2_uc011jzu.1_Silent_p.V259V|CHN2_uc010kvg.2_Silent_p.V138V|CHN2_uc010kvh.2_Intron|CHN2_uc010kvi.2_Silent_p.V138V|CHN2_uc010kve.2_Silent_p.V138V|CHN2_uc003taa.2_Silent_p.V138V|CHN2_uc010kvf.2_Intron|CHN2_uc010kvj.2_Silent_p.V93V|CHN2_uc010kvk.2_Intron|CHN2_uc010kvl.2_RNA|CHN2_uc010kvm.2_Silent_p.V93V|CHN2_uc011jzv.1_Silent_p.V67V	p.V274V	NM_004067	NP_004058	P52757	CHIO_HUMAN			9	1259	+			274					A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Silent	SNP	ENST00000222792.6	37	c.822G>A	CCDS5420.1																																																																																				0.448	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2	NM_004067	
CDC14C	168448	broad.mit.edu	37	7	48965137	48965137	+	IGR	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:48965137G>A								AC004899.1 (73916 upstream) : AC010971.1 (304595 downstream)																							GGCCTTGGTCGCACAGGCACT	0.502																																						uc010kyv.1																			0					0						c.(868-870)CGC>CAC		SubName: Full=Putative uncharacterized protein MGC26484;																																				SO:0001628	intergenic_variant	168448							g.chr7:48965137G>A																													7.37:g.48965137G>A							p.R290H	NR_003595						1	981	+									Missense_Mutation	SNP		37	c.869G>A																																																																																				0	0.502								
ELN	2006	broad.mit.edu	37	7	73472022	73472022	+	Silent	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:73472022G>A	ENST00000252034.7	+	22	1809	c.1410G>A	c.(1408-1410)caG>caA	p.Q470Q	ELN_ENST00000380576.5_Intron|ELN_ENST00000320492.7_Intron|ELN_ENST00000458204.1_Silent_p.Q460Q|ELN_ENST00000320399.6_Silent_p.Q470Q|ELN_ENST00000357036.5_Silent_p.Q475Q|ELN_ENST00000380553.4_Intron|ELN_ENST00000380584.4_Intron|ELN_ENST00000414324.1_Intron|ELN_ENST00000380575.4_Intron|ELN_ENST00000380562.4_Silent_p.Q470Q|ELN_ENST00000358929.4_Silent_p.Q499Q|ELN_ENST00000429192.1_Intron|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000445912.1_Silent_p.Q470Q	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				AAGCCGCCCAGTTTGGTAAGT	0.612			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																															uc003tzw.2				Dom	yes		7	7q11.23	2006	T	elastin	yes	Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome	L	PAX5		B-ALL		0				ovary(3)|pancreas(2)	5						c.(1408-1410)CAG>CAA		elastin isoform a precursor	Rofecoxib(DB00533)						30.0	32.0	32.0					7																	73472022		2202	4298	6500	SO:0001819	synonymous_variant	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73472022G>A		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1410G>A	7.37:g.73472022G>A						RFC2_uc011kfa.1_Intron|ELN_uc011kfe.1_Silent_p.Q439Q|ELN_uc003tzn.2_Silent_p.Q470Q|ELN_uc003tzz.2_Intron|ELN_uc003tzo.2_Intron|ELN_uc003tzp.2_Intron|ELN_uc003tzq.2_Intron|ELN_uc003tzr.2_Intron|ELN_uc003tzs.2_Intron|ELN_uc003tzt.2_Silent_p.Q475Q|ELN_uc003tzu.2_Intron|ELN_uc003tzv.2_Intron|ELN_uc003tzx.2_Silent_p.Q460Q|ELN_uc011kff.1_Silent_p.Q470Q|ELN_uc003tzy.2_Intron	p.Q470Q	NM_000501	NP_001075224	P15502	ELN_HUMAN			22	1501	+		Lung NSC(55;0.159)	499			Ala-rich.		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Silent	SNP	ENST00000252034.7	37	c.1410G>A	CCDS5562.2																																																																																				0.612	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501	
GNAT3	346562	broad.mit.edu	37	7	80091548	80091548	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:80091548G>C	ENST00000398291.3	-	7	894	c.801C>G	c.(799-801)ttC>ttG	p.F267L	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	267					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of visible light (GO:0009584)|platelet activation (GO:0030168)|response to nicotine (GO:0035094)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|synaptic transmission (GO:0007268)	acrosomal vesicle (GO:0001669)|apical plasma membrane (GO:0016324)|axoneme (GO:0005930)|heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						TTTTGTTGAGGAACAGGACAA	0.343																																						uc011kgu.1																			0				ovary(1)	1						c.(799-801)TTC>TTG		guanine nucleotide binding protein, alpha							77.0	75.0	75.0					7																	80091548		1844	4088	5932	SO:0001583	missense	346562				detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr7:80091548G>C		CCDS47625.1	7q21.11	2007-06-13			ENSG00000214415	ENSG00000214415			22800	protein-coding gene	gene with protein product		139395					Standard	NM_001102386		Approved	gustducin, GDCA	uc011kgu.2	A8MTJ3	OTTHUMG00000155401	ENST00000398291.3:c.801C>G	7.37:g.80091548G>C	ENSP00000381339:p.Phe267Leu					CD36_uc003uhc.2_Intron	p.F267L	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN			7	801	-			267					A4D1B2|A4D1B3|B9EJG5	Missense_Mutation	SNP	ENST00000398291.3	37	c.801C>G	CCDS47625.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154160	0.57259	.	.	ENSG00000214415	ENST00000398291	D	0.91068	-2.78	5.21	2.88	0.33553	.	0.057739	0.64402	U	0.000001	D	0.91597	0.7345	M	0.87547	2.89	0.80722	D	1	B	0.30104	0.268	B	0.39805	0.31	D	0.87066	0.2156	9	.	.	.	.	8.1124	0.30922	0.6482:0.0:0.3518:0.0	.	267	A8MTJ3	GNAT3_HUMAN	L	267	ENSP00000381339:F267L	.	F	-	3	2	GNAT3	79929484	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.133000	0.57983	0.414000	0.25790	0.655000	0.94253	TTC		0.343	GNAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339909.3	XM_294370	
CALCR	799	broad.mit.edu	37	7	93091387	93091387	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:93091387T>C	ENST00000421592.1	-	8	845	c.557A>G	c.(556-558)tAt>tGt	p.Y186C	CALCR_ENST00000359558.2_Missense_Mutation_p.Y204C|CALCR_ENST00000360249.4_Missense_Mutation_p.Y186C|CALCR_ENST00000394441.1_Intron|CALCR_ENST00000426151.1_Intron			P30988	CALCR_HUMAN	calcitonin receptor	204					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	TGCCTTCCTATATTTCCAATT	0.284																																						uc003umv.1																			0				ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(610-612)TAT>TGT		calcitonin receptor isoform 2 precursor	Salmon Calcitonin(DB00017)						43.0	39.0	41.0					7																	93091387		1546	3535	5081	SO:0001583	missense	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding	g.chr7:93091387T>C	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000421592.1:c.557A>G	7.37:g.93091387T>C	ENSP00000399552:p.Tyr186Cys					CALCR_uc011kia.1_5'Flank|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_Intron|CALCR_uc003umu.1_Intron|CALCR_uc003umw.2_Intron	p.Y204C	NM_001742	NP_001733	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		8	872	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		186			Cytoplasmic (Potential).		A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000421592.1	37	c.611A>G		.	.	.	.	.	.	.	.	.	.	T	10.11	1.260128	0.23051	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592	T;T;T	0.49432	0.78;0.78;0.78	2.87	-1.0	0.10196	.	.	.	.	.	T	0.22282	0.0537	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.17228	-1.0376	9	0.72032	D	0.01	.	2.2603	0.04065	0.2212:0.2644:0.0:0.5144	.	204	F5H605	.	C	204;186;186	ENSP00000352561:Y204C;ENSP00000353385:Y186C;ENSP00000399552:Y186C	ENSP00000352561:Y204C	Y	-	2	0	CALCR	92929323	0.017000	0.18338	0.001000	0.08648	0.004000	0.04260	-0.014000	0.12656	-0.202000	0.10268	0.533000	0.62120	TAT		0.284	CALCR-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000341741.1	NM_001742	
GRM8	2918	broad.mit.edu	37	7	126882860	126882860	+	Silent	SNP	A	A	G			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:126882860A>G	ENST00000339582.2	-	2	1207	c.399T>C	c.(397-399)tgT>tgC	p.C133C	GRM8_ENST00000405249.1_Silent_p.C133C|GRM8_ENST00000444921.2_Silent_p.C133C|GRM8_ENST00000358373.3_Silent_p.C133C			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	133					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CTCCATTAGCACACTTCACAT	0.483										HNSCC(24;0.065)																												uc003vlr.2																			0				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(397-399)TGT>TGC		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						171.0	137.0	148.0					7																	126882860		2203	4300	6503	SO:0001819	synonymous_variant	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126882860A>G		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.399T>C	7.37:g.126882860A>G		HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.C133C|GRM8_uc010lkz.1_RNA	p.C133C	NM_000845	NP_000836	O00222	GRM8_HUMAN			1	710	-		Prostate(267;0.186)	133			Extracellular (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	c.399T>C	CCDS5794.1																																																																																				0.483	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4		
TSGA13	114960	broad.mit.edu	37	7	130357671	130357671	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:130357671G>A	ENST00000456951.1	-	7	1284	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	TSGA13_ENST00000356588.3_Missense_Mutation_p.R145C			Q96PP4	TSG13_HUMAN	testis specific, 13	145										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					TGAGGCATGCGGGGCAGCCAG	0.473																																						uc003vqi.2																			0				ovary(2)	2						c.(433-435)CGC>TGC		testis specific, 13							134.0	127.0	129.0					7																	130357671		2203	4300	6503	SO:0001583	missense	114960							g.chr7:130357671G>A	AK093329	CCDS5824.1	7q32	2008-02-04			ENSG00000213265	ENSG00000213265			12369	protein-coding gene	gene with protein product							Standard	NM_052933		Approved		uc003vqi.3	Q96PP4	OTTHUMG00000154999	ENST00000456951.1:c.433C>T	7.37:g.130357671G>A	ENSP00000406047:p.Arg145Cys					TSGA13_uc003vqj.2_Missense_Mutation_p.R145C	p.R145C	NM_052933	NP_443165	Q96PP4	TSG13_HUMAN			6	890	-	Melanoma(18;0.0435)		145					B3KSC9	Missense_Mutation	SNP	ENST00000456951.1	37	c.433C>T	CCDS5824.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.278470	0.23307	.	.	ENSG00000213265	ENST00000456951;ENST00000418126;ENST00000356588	.	.	.	4.92	-9.84	0.00479	.	2.414380	0.02014	N	0.047251	T	0.11024	0.0269	N	0.08118	0	0.09310	N	1	P	0.39782	0.688	B	0.34722	0.188	T	0.32587	-0.9901	9	0.45353	T	0.12	10.8096	2.6258	0.04929	0.3478:0.3439:0.2021:0.1062	.	145	Q96PP4	TSG13_HUMAN	C	145	.	ENSP00000348996:R145C	R	-	1	0	TSGA13	130008211	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.606000	0.05654	-2.439000	0.00551	-1.878000	0.00547	CGC		0.473	TSGA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337997.1	NM_052933	
TRPV5	56302	broad.mit.edu	37	7	142625188	142625188	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:142625188G>A	ENST00000265310.1	-	7	1252	c.904C>T	c.(904-906)Cga>Tga	p.R302*	TRPV5_ENST00000442623.1_Nonsense_Mutation_p.R302*	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	302					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.R302R(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CATACCTCTCGTTTATCAGAG	0.527																																						uc003wby.1																			1	Substitution - coding silent(1)	p.R302R(1)	ovary(1)	ovary(3)|central_nervous_system(2)|skin(1)	6						c.(904-906)CGA>TGA		transient receptor potential cation channel,							109.0	92.0	98.0					7																	142625188		2203	4300	6503	SO:0001587	stop_gained	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142625188G>A	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.904C>T	7.37:g.142625188G>A	ENSP00000265310:p.Arg302*					TRPV5_uc003wbz.2_Nonsense_Mutation_p.R302*	p.R302*	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN			7	1168	-	Melanoma(164;0.059)		302			Cytoplasmic (Potential).		A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Nonsense_Mutation	SNP	ENST00000265310.1	37	c.904C>T	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	G	36	5.642436	0.96704	.	.	ENSG00000127412	ENST00000265310;ENST00000442623	.	.	.	4.36	3.45	0.39498	.	0.398859	0.25099	N	0.033141	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-20.4747	10.5242	0.44938	0.0:0.0:0.488:0.512	.	.	.	.	X	302	.	ENSP00000265310:R302X	R	-	1	2	TRPV5	142335310	0.856000	0.29760	0.790000	0.31976	0.425000	0.31504	1.554000	0.36266	1.132000	0.42129	0.655000	0.94253	CGA		0.527	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841	
KMT2C	58508	broad.mit.edu	37	7	151944990	151944990	+	Silent	SNP	T	T	C			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:151944990T>C	ENST00000262189.6	-	14	2747	c.2529A>G	c.(2527-2529)aaA>aaG	p.K843K	KMT2C_ENST00000355193.2_Silent_p.K843K	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	843					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ACCCTACCTGTTTGGACCGAG	0.368																																						uc003wla.2										N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(2527-2529)AAA>AAG		myeloid/lymphoid or mixed-lineage leukemia 3							109.0	99.0	102.0					7																	151944990		2203	4297	6500	SO:0001819	synonymous_variant	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151944990T>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2529A>G	7.37:g.151944990T>C							p.K843K	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	14	2748	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	843					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.2529A>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	9.816	1.184417	0.21870	.	.	ENSG00000055609	ENST00000418673	.	.	.	5.46	4.31	0.51392	.	.	.	.	.	T	0.62380	0.2423	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59112	-0.7515	4	.	.	.	.	11.0134	0.47675	0.0:0.0727:0.0:0.9273	.	.	.	.	A	39	.	.	T	-	1	0	MLL3	151575923	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.982000	0.40638	0.911000	0.36747	0.528000	0.53228	ACA		0.368	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		
EIF3H	8667	broad.mit.edu	37	8	117738327	117738327	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr8:117738327C>T	ENST00000276682.4	-	4	1025	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	EIF3H_ENST00000521861.1_Missense_Mutation_p.E73K					eukaryotic translation initiation factor 3, subunit H											large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					AGCCGATCTTCTACAACCAGA	0.403																																						uc003yoa.2																			0				lung(3)	3						c.(217-219)GAA>AAA		eukaryotic translation initiation factor 3,							188.0	154.0	165.0					8																	117738327		2203	4300	6503	SO:0001583	missense	8667				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr8:117738327C>T	U54559	CCDS6319.1	8q24.11	2007-07-27	2007-07-27	2007-07-27	ENSG00000147677	ENSG00000147677			3273	protein-coding gene	gene with protein product		603912	"""eukaryotic translation initiation factor 3, subunit 3 gamma, 40kDa"""	EIF3S3		9341143	Standard	NM_003756		Approved	eIF3-gamma, eIF3-p40, eIF3h	uc003yoa.3	O15372	OTTHUMG00000164919	ENST00000276682.4:c.259G>A	8.37:g.117738327C>T	ENSP00000276682:p.Glu87Lys					EIF3H_uc003yob.2_Missense_Mutation_p.E87K|EIF3H_uc011lhz.1_Missense_Mutation_p.E73K	p.E73K	NM_003756	NP_003747	O15372	EIF3H_HUMAN			2	243	-	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)		73	E -> K (in Ref. 2; AAC84044).		MPN.			Missense_Mutation	SNP	ENST00000276682.4	37	c.217G>A		.	.	.	.	.	.	.	.	.	.	C	19.89	3.910632	0.72983	.	.	ENSG00000147677	ENST00000521861;ENST00000276682;ENST00000518995;ENST00000522453;ENST00000520813	T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62	5.86	5.86	0.93980	.	0.155012	0.64402	D	0.000015	T	0.36496	0.0969	N	0.20845	0.615	0.80722	D	1	P;B;B	0.41080	0.737;0.285;0.183	B;B;B	0.37550	0.253;0.131;0.096	T	0.09164	-1.0687	10	0.28530	T	0.3	-25.6888	20.1859	0.98214	0.0:1.0:0.0:0.0	.	73;87;73	B4DJN9;B3KS98;O15372	.;.;EIF3H_HUMAN	K	73;87;89;73;87	ENSP00000429931:E73K;ENSP00000276682:E87K;ENSP00000428669:E89K;ENSP00000428885:E73K;ENSP00000427908:E87K	ENSP00000276682:E87K	E	-	1	0	EIF3H	117807508	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.792000	0.85828	2.777000	0.95525	0.591000	0.81541	GAA		0.403	EIF3H-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000380913.1	NM_003756	
ATAD2	29028	broad.mit.edu	37	8	124384892	124384893	+	Frame_Shift_Ins	INS	-	-	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr8:124384892_124384893insT	ENST00000287394.5	-	3	461_462	c.354_355insA	c.(352-357)aaagaafs	p.E119fs	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	119					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E119fs*8(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CTGTGCTCTTCTTTTTTTTTAT	0.267																																						uc003yqh.3																			1	Deletion - Frameshift(1)		large_intestine(1)	ovary(2)	2						c.(352-357)AAAGAAfs		ATPase family, AAA domain containing 2																																				SO:0001589	frameshift_variant	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124384892_124384893insT	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.355dupA	8.37:g.124384901_124384901dupT	ENSP00000287394:p.Glu119fs					ATAD2_uc011lii.1_5'UTR|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Frame_Shift_Ins_p.K118fs	p.K118fs	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		3	462_463	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		118_119					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Frame_Shift_Ins	INS	ENST00000287394.5	37	c.354_355insA	CCDS6343.1																																																																																				0.267	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109	
FAM83H	286077	broad.mit.edu	37	8	144808899	144808899	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr8:144808899C>T	ENST00000388913.3	-	5	2857	c.2732G>A	c.(2731-2733)cGc>cAc	p.R911H		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	911					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ACTACCCCTGCGCTCGGGGTA	0.682																																						uc003yzk.2																			0				lung(1)|central_nervous_system(1)|pancreas(1)	3						c.(2731-2733)CGC>CAC		FAM83H							11.0	12.0	12.0					8																	144808899		1896	4087	5983	SO:0001583	missense	286077				biomineral tissue development			g.chr8:144808899C>T	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.2732G>A	8.37:g.144808899C>T	ENSP00000373565:p.Arg911His					FAM83H_uc010mfk.1_RNA	p.R911H	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	2801	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		911					A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	c.2732G>A	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	c	5.442	0.266653	0.10294	.	.	ENSG00000180921	ENST00000388913	T	0.15487	2.42	4.95	-0.437	0.12272	.	1.193640	0.06516	U	0.738878	T	0.12135	0.0295	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.35748	-0.9776	10	0.42905	T	0.14	.	5.4834	0.16737	0.1257:0.459:0.0:0.4153	.	911	Q6ZRV2	FA83H_HUMAN	H	911	ENSP00000373565:R911H	ENSP00000373565:R911H	R	-	2	0	FAM83H	144880887	0.000000	0.05858	0.003000	0.11579	0.068000	0.16541	-1.970000	0.01504	-0.421000	0.07416	-0.449000	0.05564	CGC		0.682	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488	
DENND4C	55667	broad.mit.edu	37	9	19305352	19305352	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr9:19305352G>A	ENST00000380432.2	+	6	639	c.606G>A	c.(604-606)atG>atA	p.M202I	DENND4C_ENST00000434457.2_Missense_Mutation_p.M438I|DENND4C_ENST00000602925.1_Missense_Mutation_p.M438I			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	202	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TTCCCCAGATGATCTTTCCAT	0.343																																						uc003znq.2																			0				ovary(1)|skin(1)	2						c.(604-606)ATG>ATA		DENN/MADD domain containing 4C							139.0	138.0	139.0					9																	19305352		2203	4300	6503	SO:0001583	missense	55667					integral to membrane		g.chr9:19305352G>A	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.606G>A	9.37:g.19305352G>A	ENSP00000369797:p.Met202Ile					DENND4C_uc011lnc.1_5'UTR	p.M202I	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN			6	639	+			202			DENN.|Helical; (Potential).		A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	ENST00000380432.2	37	c.606G>A		.	.	.	.	.	.	.	.	.	.	G	18.85	3.710764	0.68730	.	.	ENSG00000137145	ENST00000380437	.	.	.	4.71	4.71	0.59529	DENN (3);	0.000000	0.85682	D	0.000000	T	0.65974	0.2743	L	0.28776	0.89	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.66870	-0.5814	9	0.44086	T	0.13	-15.772	17.8373	0.88701	0.0:0.0:1.0:0.0	.	202	Q5VZ89	DEN4C_HUMAN	I	202	.	ENSP00000369802:M202I	M	+	3	0	DENND4C	19295352	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.407000	0.97325	2.441000	0.82636	0.585000	0.79938	ATG		0.343	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925	
CYLC2	1539	broad.mit.edu	37	9	105763888	105763888	+	Missense_Mutation	SNP	A	A	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr9:105763888A>T	ENST00000374798.3	+	2	116	c.46A>T	c.(46-48)Aat>Tat	p.N16Y	CYLC2_ENST00000487798.1_Missense_Mutation_p.N16Y	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	16					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				GCCATATGATAATTACATTCC	0.259																																						uc004bbs.2																			0				skin(1)	1						c.(46-48)AAT>TAT		cylicin 2							42.0	43.0	43.0					9																	105763888		2194	4288	6482	SO:0001583	missense	1539				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:105763888A>T	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.46A>T	9.37:g.105763888A>T	ENSP00000420256:p.Asn16Tyr						p.N16Y	NM_001340	NP_001331	Q14093	CYLC2_HUMAN			2	116	+		all_hematologic(171;0.125)	16					B2R8F4|Q5VVJ9	Missense_Mutation	SNP	ENST00000374798.3	37	c.46A>T	CCDS35085.1	.	.	.	.	.	.	.	.	.	.	A	17.61	3.431911	0.62844	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.21543	2.0;2.0	4.64	4.64	0.57946	.	0.000000	0.39985	N	0.001205	T	0.43964	0.1271	M	0.76328	2.33	0.31740	N	0.63594	D	0.89917	1.0	D	0.80764	0.994	T	0.55560	-0.8122	10	0.87932	D	0	-65.6375	10.6381	0.45577	1.0:0.0:0.0:0.0	.	16	Q14093	CYLC2_HUMAN	Y	16	ENSP00000420256:N16Y;ENSP00000417674:N16Y	ENSP00000420256:N16Y	N	+	1	0	CYLC2	104803709	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.792000	0.55476	2.086000	0.62901	0.528000	0.53228	AAT		0.259	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340	
C9orf84	158401	broad.mit.edu	37	9	114466161	114466161	+	Splice_Site	SNP	C	C	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr9:114466161C>A	ENST00000318737.4	-	20	2903	c.2775G>T	c.(2773-2775)caG>caT	p.Q925H	C9orf84_ENST00000394777.4_Splice_Site_p.Q851H|C9orf84_ENST00000394779.3_Splice_Site_p.Q886H|C9orf84_ENST00000374287.3_Splice_Site_p.Q925H	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	925										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTAGTTTTACCTGCAAAATTA	0.318																																						uc004bfr.2																			0				ovary(2)	2						c.(2773-2775)CAG>CAT		hypothetical protein LOC158401 isoform 1							72.0	71.0	71.0					9																	114466161		2203	4299	6502	SO:0001630	splice_region_variant	158401							g.chr9:114466161C>A	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.2775+1G>T	9.37:g.114466161C>A						C9orf84_uc011lwt.1_Intron|C9orf84_uc004bfq.2_Missense_Mutation_p.Q886H|C9orf84_uc010mug.2_Missense_Mutation_p.Q836H	p.Q925H	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN			20	2910	-			925					A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	c.2775G>T	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791345	0.70452	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	T;T;T;T	0.05382	3.45;3.48;3.46;3.46	5.34	5.34	0.76211	.	0.000000	0.45361	D	0.000367	T	0.16342	0.0393	L	0.34521	1.04	0.44587	D	0.997553	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.02885	-1.1098	9	.	.	.	-5.5014	16.8177	0.85738	0.0:1.0:0.0:0.0	.	851;925;886	A6PVK7;Q5VXU9;A2A2V3	.;CI084_HUMAN;.	H	886;851;539;925;925	ENSP00000378259:Q886H;ENSP00000378257:Q851H;ENSP00000363405:Q925H;ENSP00000322108:Q925H	.	Q	-	3	2	C9orf84	113505982	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	5.835000	0.69368	2.518000	0.84900	0.650000	0.86243	CAG		0.318	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521	Missense_Mutation
ENG	2022	broad.mit.edu	37	9	130605418	130605418	+	Silent	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr9:130605418G>A	ENST00000373203.4	-	2	574	c.174C>T	c.(172-174)ccC>ccT	p.P58P	ENG_ENST00000344849.3_Silent_p.P58P|RNA5SP296_ENST00000410523.1_RNA	NM_000118.2|NM_001114753.1|NM_001278138.1	NP_000109.1|NP_001108225.1|NP_001265067.1	P17813	EGLN_HUMAN	endoglin	58	Required for interaction with EGL.				artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in endocardial cushion formation (GO:0003273)|cell motility (GO:0048870)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|chronological cell aging (GO:0001300)|detection of hypoxia (GO:0070483)|extracellular matrix constituent secretion (GO:0070278)|extracellular matrix disassembly (GO:0022617)|heart looping (GO:0001947)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|patterning of blood vessels (GO:0001569)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of gene expression (GO:0010628)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of phosphorylation (GO:0042325)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to corticosteroid (GO:0031960)|response to hypoxia (GO:0001666)|response to statin (GO:0036273)|response to transforming growth factor beta (GO:0071559)|smooth muscle tissue development (GO:0048745)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	activin binding (GO:0048185)|galactose binding (GO:0005534)|glycosaminoglycan binding (GO:0005539)|protein homodimerization activity (GO:0042803)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane signaling receptor activity (GO:0004888)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						GGATGGCATTGGGGGCCTGAG	0.602									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia																													uc004bsj.3																			0					0						c.(172-174)CCC>CCT		endoglin isoform 1 precursor							157.0	156.0	156.0					9																	130605418		2203	4300	6503	SO:0001819	synonymous_variant	2022	Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis,	artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding	g.chr9:130605418G>A	AF035753	CCDS6880.1, CCDS48029.1, CCDS75906.1	9q34.11	2014-09-17	2008-09-04		ENSG00000106991	ENSG00000106991		"""CD molecules"""	3349	protein-coding gene	gene with protein product		131195	"""Osler-Rendu-Weber syndrome 1"""	ORW1, ORW		8404038, 10548503	Standard	NM_001278138		Approved	END, HHT1, CD105	uc031tfe.1	P17813	OTTHUMG00000020723	ENST00000373203.4:c.174C>T	9.37:g.130605418G>A						ENG_uc011mam.1_5'UTR|ENG_uc004bsk.3_Silent_p.P58P	p.P58P	NM_001114753	NP_001108225	P17813	EGLN_HUMAN			2	587	-			58			Extracellular (Potential).		Q14248|Q14926|Q5T9C0	Silent	SNP	ENST00000373203.4	37	c.174C>T	CCDS48029.1																																																																																				0.602	ENG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054313.1		
BHLHB9	80823	broad.mit.edu	37	X	102004405	102004405	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chrX:102004405C>T	ENST00000372735.1	+	4	1067	c.482C>T	c.(481-483)cCt>cTt	p.P161L	BHLHB9_ENST00000448867.1_Missense_Mutation_p.P161L|BHLHB9_ENST00000361229.4_Missense_Mutation_p.P161L|BHLHB9_ENST00000447531.1_Missense_Mutation_p.P161L|BHLHB9_ENST00000457056.1_Missense_Mutation_p.P161L			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	161					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GATTGCAAACCTAGGTCAGGG	0.493																																						uc010nog.2																			0				ovary(2)	2						c.(481-483)CCT>CTT		basic helix-loop-helix domain containing, class							86.0	91.0	89.0					X																	102004405		2203	4299	6502	SO:0001583	missense	80823					cytoplasm|nucleus	binding	g.chrX:102004405C>T	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"""Basic helix-loop-helix proteins"", ""Armadillo repeat containing"""	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.482C>T	X.37:g.102004405C>T	ENSP00000361820:p.Pro161Leu					BHLHB9_uc011mrq.1_Missense_Mutation_p.P161L|BHLHB9_uc011mrr.1_Missense_Mutation_p.P161L|BHLHB9_uc011mrs.1_Missense_Mutation_p.P161L|BHLHB9_uc011mrt.1_Missense_Mutation_p.P161L|BHLHB9_uc004ejo.2_Missense_Mutation_p.P161L|BHLHB9_uc011mru.1_Missense_Mutation_p.P161L|BHLHB9_uc011mrv.1_Missense_Mutation_p.P161L	p.P161L	NM_001142526	NP_001135998	Q6PI77	BHLH9_HUMAN			4	1053	+			161					Q9C0G2	Missense_Mutation	SNP	ENST00000372735.1	37	c.482C>T	CCDS14502.1	.	.	.	.	.	.	.	.	.	.	C	0.440	-0.898842	0.02472	.	.	ENSG00000198908	ENST00000457056;ENST00000361229;ENST00000447531;ENST00000448867;ENST00000372735	T;T;T;T;T	0.11063	2.81;2.81;2.81;2.81;2.81	4.38	0.583	0.17417	.	1.309410	0.05672	N	0.588859	T	0.04724	0.0128	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42103	-0.9471	9	.	.	.	-6.9341	0.9745	0.01423	0.1864:0.4227:0.1779:0.213	.	161	Q6PI77	BHLH9_HUMAN	L	161	ENSP00000403226:P161L;ENSP00000354675:P161L;ENSP00000405893:P161L;ENSP00000391722:P161L;ENSP00000361820:P161L	.	P	+	2	0	BHLHB9	101891061	0.006000	0.16342	0.000000	0.03702	0.005000	0.04900	0.654000	0.24918	-0.020000	0.14032	-0.302000	0.09304	CCT		0.493	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639	
FAM127C	441518	broad.mit.edu	37	X	134156181	134156181	+	Silent	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chrX:134156181C>T	ENST00000391440.1	-	1	378	c.309G>A	c.(307-309)cgG>cgA	p.R103R		NM_001078173.1	NP_001071641.1	Q17RB0	F127C_HUMAN	family with sequence similarity 127, member C	103										breast(1)|endometrium(2)|large_intestine(1)|lung(2)	6	Acute lymphoblastic leukemia(192;0.000127)					ATCCAAAGACCCGCTTCATCT	0.667																																						uc004eyc.1																			0					0						c.(307-309)CGG>CGA		family with sequence similarity 127, member C							43.0	46.0	45.0					X																	134156181		2187	4276	6463	SO:0001819	synonymous_variant	441518							g.chrX:134156181C>T	BC048268	CCDS43996.1	Xq26.3	2014-05-16			ENSG00000212747	ENSG00000212747			33156	protein-coding gene	gene with protein product						9403077, 15716091	Standard	NM_001078173		Approved	MAR8B, CXX1c	uc004eyc.1	Q17RB0	OTTHUMG00000022464	ENST00000391440.1:c.309G>A	X.37:g.134156181C>T							p.R103R	NM_001078173	NP_001071641	Q17RB0	F127C_HUMAN			1	386	-	Acute lymphoblastic leukemia(192;0.000127)		103						Silent	SNP	ENST00000391440.1	37	c.309G>A	CCDS43996.1																																																																																				0.667	FAM127C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058389.2	NM_001078173	
