#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
OXCT2	64064	broad.mit.edu	37	1	40235523	40235523	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr1:40235523C>T	ENST00000327582.5	-	1	1497	c.1405G>A	c.(1405-1407)Gag>Aag	p.E469K	BMP8B_ENST00000397360.2_Intron|BMP8B_ENST00000372827.3_Intron	NM_022120.1	NP_071403.1	Q9BYC2	SCOT2_HUMAN	3-oxoacid CoA transferase 2	469					ketone body catabolic process (GO:0046952)	mitochondrion (GO:0005739)|motile cilium (GO:0031514)	3-oxoacid CoA-transferase activity (GO:0008260)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	ACGGCCTTCTCGGTGATGATG	0.592																																						uc001ceb.1																			0				pancreas(1)	1						c.(1405-1407)GAG>AAG		3-oxoacid CoA transferase 2 precursor	Succinic acid(DB00139)						62.0	60.0	61.0					1																	40235523		2203	4300	6503	SO:0001583	missense	64064				ketone body catabolic process	microtubule-based flagellum|mitochondrion	3-oxoacid CoA-transferase activity	g.chr1:40235523C>T	AB050193	CCDS445.1	1p34	2008-02-05			ENSG00000198754	ENSG00000198754			18606	protein-coding gene	gene with protein product		610289				11214971, 11756565	Standard	NM_022120		Approved	FKSG25, FLJ00030, SCOT-T	uc001ceb.1	Q9BYC2	OTTHUMG00000009249	ENST00000327582.5:c.1405G>A	1.37:g.40235523C>T	ENSP00000361914:p.Glu469Lys					BMP8B_uc001cdz.1_Intron|BMP8B_uc001cea.1_Intron|OXCT2_uc009vvu.1_Missense_Mutation_p.E463K	p.E469K	NM_022120	NP_071403	Q9BYC2	SCOT2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		1	1498	-	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	469					B2RBB4|Q5QPK4|Q8NHR1|Q9H1I4	Missense_Mutation	SNP	ENST00000327582.5	37	c.1405G>A	CCDS445.1	.	.	.	.	.	.	.	.	.	.	c	35	5.449614	0.96205	.	.	ENSG00000198754	ENST00000327582	D	0.95412	-3.7	2.51	2.51	0.30379	3-oxoacid CoA-transferase, subunit B (1);	0.053690	0.64402	U	0.000001	D	0.97117	0.9058	.	.	.	0.51482	D	0.999923	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	D	0.96966	0.9705	9	0.87932	D	0	-0.5543	11.1506	0.48455	0.0:1.0:0.0:0.0	.	469;469	B3KS89;Q9BYC2	.;SCOT2_HUMAN	K	469	ENSP00000361914:E469K	ENSP00000361914:E469K	E	-	1	0	OXCT2	40008110	0.843000	0.29541	0.699000	0.30290	0.870000	0.49936	1.546000	0.36179	1.698000	0.51180	0.556000	0.70494	GAG		0.592	OXCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025656.1	NM_022120	
DMRTB1	63948	broad.mit.edu	37	1	53930361	53930361	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr1:53930361C>T	ENST00000371445.3	+	3	857	c.802C>T	c.(802-804)Ccg>Tcg	p.P268S		NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	268	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						gccgccgccgccgccgccact	0.682																																						uc001cvq.1																			0				ovary(1)|skin(1)	2						c.(802-804)CCG>TCG		DMRT-like family B with proline-rich C-terminal,							28.0	34.0	32.0					1																	53930361		2203	4299	6502	SO:0001583	missense	63948				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr1:53930361C>T	AJ291671	CCDS581.1	1p32	2008-08-29			ENSG00000143006	ENSG00000143006			13913	protein-coding gene	gene with protein product		614805					Standard	NM_033067		Approved		uc001cvq.1	Q96MA1	OTTHUMG00000008080	ENST00000371445.3:c.802C>T	1.37:g.53930361C>T	ENSP00000360500:p.Pro268Ser						p.P268S	NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN			3	857	+			268			Pro-rich.		Q96SD2	Missense_Mutation	SNP	ENST00000371445.3	37	c.802C>T	CCDS581.1	.	.	.	.	.	.	.	.	.	.	C	8.788	0.929778	0.18131	.	.	ENSG00000143006	ENST00000371445;ENST00000431335	T	0.53640	0.61	1.46	0.514	0.17007	.	0.606896	0.10342	N	0.686121	T	0.40040	0.1101	M	0.62723	1.935	0.09310	N	1	B	0.24823	0.112	B	0.30646	0.118	T	0.37033	-0.9723	10	0.17832	T	0.49	.	3.8502	0.08951	0.0:0.7588:0.0:0.2412	.	268	Q96MA1	DMRTB_HUMAN	S	268;115	ENSP00000360500:P268S	ENSP00000360500:P268S	P	+	1	0	DMRTB1	53702949	0.003000	0.15002	0.001000	0.08648	0.004000	0.04260	1.033000	0.30191	0.221000	0.20879	0.393000	0.25936	CCG		0.682	DMRTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022110.1		
SELE	6401	broad.mit.edu	37	1	169698648	169698648	+	Silent	SNP	G	G	A	rs374959095		TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr1:169698648G>A	ENST00000333360.7	-	6	1021	c.882C>T	c.(880-882)aaC>aaT	p.N294N	SELE_ENST00000367782.4_Silent_p.N294N|SELE_ENST00000367775.1_Silent_p.N232N|SELE_ENST00000367780.4_Silent_p.N232N|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367776.1_Silent_p.N294N|SELE_ENST00000367781.4_Silent_p.N294N|SELE_ENST00000367777.1_Silent_p.N294N|SELE_ENST00000367774.1_Silent_p.N294N|SELE_ENST00000367779.4_Silent_p.N294N	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	294	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	TTGGCTTCTCGTTGTCCCAAT	0.458																																						uc001ggm.3																			0				ovary(3)|skin(2)	5						c.(880-882)AAC>AAT		selectin E precursor		G		0,4406		0,0,2203	152.0	141.0	145.0		882	-4.3	0.0	1		145	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SELE	NM_000450.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		294/611	169698648	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6401				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169698648G>A	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"""CD molecules"""	10718	protein-coding gene	gene with protein product		131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.882C>T	1.37:g.169698648G>A						C1orf112_uc001ggj.2_Intron	p.N294N	NM_000450	NP_000441	P16581	LYAM2_HUMAN			6	1039	-	all_hematologic(923;0.208)		294			Sushi 2.|Extracellular (Potential).		A2RRD6|P16111	Silent	SNP	ENST00000333360.7	37	c.882C>T	CCDS1283.1																																																																																				0.458	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450	
USH2A	7399	broad.mit.edu	37	1	215931985	215931985	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr1:215931985T>C	ENST00000307340.3	-	58	11727	c.11341A>G	c.(11341-11343)Atc>Gtc	p.I3781V	USH2A_ENST00000366943.2_Missense_Mutation_p.I3781V	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3781	Fibronectin type-III 23. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTACTGTGATATTATATGGA	0.353										HNSCC(13;0.011)																												uc001hku.1																			0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(11341-11343)ATC>GTC		usherin isoform B							170.0	170.0	170.0					1																	215931985		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215931985T>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.11341A>G	1.37:g.215931985T>C	ENSP00000305941:p.Ile3781Val	HNSCC(13;0.011)					p.I3781V	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	58	11728	-			3781			Fibronectin type-III 23.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.11341A>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	3.040	-0.197810	0.06219	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.53423	0.62;0.62	5.36	-3.78	0.04333	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.586609	0.14195	N	0.335087	T	0.21881	0.0527	N	0.05031	-0.125	0.18873	N	0.999983	B	0.06786	0.001	B	0.08055	0.003	T	0.32534	-0.9903	10	0.02654	T	1	.	18.1002	0.89504	0.0:0.8217:0.0:0.1783	.	3781	O75445	USH2A_HUMAN	V	3781	ENSP00000305941:I3781V;ENSP00000355910:I3781V	ENSP00000305941:I3781V	I	-	1	0	USH2A	213998608	0.946000	0.32159	0.022000	0.16811	0.991000	0.79684	0.016000	0.13377	-0.457000	0.07033	0.477000	0.44152	ATC		0.353	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
OR2L13	284521	broad.mit.edu	37	1	248154287	248154287	+	Intron	SNP	T	T	C			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr1:248154287T>C	ENST00000366478.2	+	1	194					NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CTATTCGACCTGCAGCACCCA	0.498																																						uc001idv.1																			0					0						c.(475-477)TGC>CGC		RecName: Full=Olfactory receptor 2L5; AltName: Full=Olfactory receptor OR1-53;																																				SO:0001627	intron_variant	26247							g.chr1:248154287T>C	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000366478.2:c.-144+53601T>C	1.37:g.248154287T>C						OR2L13_uc001ids.2_Intron	p.C159R	NR_002145						1	719	+								Q5VUR5	Missense_Mutation	SNP	ENST00000366478.2	37	c.475T>C	CCDS1637.1																																																																																				0.498	OR2L13-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_175911	
OR2T4	127074	broad.mit.edu	37	1	248525822	248525822	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr1:248525822A>T	ENST00000366475.1	+	1	940	c.940A>T	c.(940-942)Act>Tct	p.T314S		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	314						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(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TACCATCCTCACTCCAGTGGT	0.463																																						uc001ieh.1																			0				central_nervous_system(1)	1						c.(940-942)ACT>TCT		olfactory receptor, family 2, subfamily T,							145.0	143.0	144.0					1																	248525822		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525822A>T	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.940A>T	1.37:g.248525822A>T	ENSP00000355431:p.Thr314Ser						p.T314S	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	940	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		314			Helical; Name=7; (Potential).		Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.940A>T	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	A	11.20	1.569678	0.28003	.	.	ENSG00000196944	ENST00000366475	T	0.35605	1.3	3.0	3.0	0.34707	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000186	T	0.55593	0.1930	M	0.79123	2.44	0.09310	N	1	D	0.76494	0.999	D	0.74674	0.984	T	0.44050	-0.9353	10	0.87932	D	0	.	8.4833	0.33057	0.8043:0.1957:0.0:0.0	.	314	Q8NH00	OR2T4_HUMAN	S	314	ENSP00000355431:T314S	ENSP00000355431:T314S	T	+	1	0	OR2T4	246592445	0.003000	0.15002	0.997000	0.53966	0.203000	0.24098	1.181000	0.32017	1.228000	0.43614	0.477000	0.44152	ACT		0.463	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696	
GRID1	2894	broad.mit.edu	37	10	87628864	87628864	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr10:87628864A>G	ENST00000327946.7	-	6	939	c.854T>C	c.(853-855)tTt>tCt	p.F285S		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	285					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						TGCAGACGGAAAGATTTGCCG	0.542										Multiple Myeloma(13;0.14)																												uc001kdl.1																			0				ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10						c.(853-855)TTT>TCT		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						198.0	159.0	172.0					10																	87628864		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87628864A>G	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.854T>C	10.37:g.87628864A>G	ENSP00000330148:p.Phe285Ser	Multiple Myeloma(13;0.14)				GRID1_uc009xsu.1_RNA	p.F285S	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN			6	955	-			285			Extracellular (Potential).		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.854T>C	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.597507	0.87055	.	.	ENSG00000182771	ENST00000327946	T	0.81330	-1.48	5.71	5.71	0.89125	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.87462	0.6183	M	0.64997	1.995	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.85921	0.1446	10	0.31617	T	0.26	.	15.1599	0.72775	1.0:0.0:0.0:0.0	.	285	Q9ULK0	GRID1_HUMAN	S	285	ENSP00000330148:F285S	ENSP00000330148:F285S	F	-	2	0	GRID1	87618844	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	9.246000	0.95438	2.169000	0.68431	0.533000	0.62120	TTT		0.542	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613	
PTEN	5728	broad.mit.edu	37	10	89720664	89720664	+	Missense_Mutation	SNP	A	A	C			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr10:89720664A>C	ENST00000371953.3	+	8	2172	c.815A>C	c.(814-816)cAc>cCc	p.H272P	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	272	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.R55fs*1(5)|p.?(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.H272R(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)		AAAATGTTTCACTTTTGGGTA	0.269		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		51	Whole gene deletion(37)|Deletion - Frameshift(9)|Unknown(3)|Substitution - Missense(1)|Deletion - In frame(1)	p.R55fs*1(4)|p.?(2)|p.D268_F279>VGQNVSLLGKYI(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.H272Y(1)|p.G165_K342del(1)|p.H272R(1)	prostate(16)|central_nervous_system(11)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|endometrium(2)|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						c.(814-816)CAC>CCC		phosphatase and tensin homolog							25.0	26.0	26.0					10																	89720664		2185	4265	6450	SO:0001583	missense	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.chr10:89720664A>C	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.815A>C	10.37:g.89720664A>C	ENSP00000361021:p.His272Pro	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.H272P	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)	9	1846	+		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)	272			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.815A>C	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.197924	0.79015	.	.	ENSG00000171862	ENST00000371953	D	0.86432	-2.12	5.13	5.13	0.70059	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.93109	0.7806	M	0.81802	2.56	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	D	0.93456	0.6806	9	.	.	.	-0.3224	14.9228	0.70854	1.0:0.0:0.0:0.0	.	272	P60484	PTEN_HUMAN	P	272	ENSP00000361021:H272P	.	H	+	2	0	PTEN	89710644	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.918000	0.92759	1.942000	0.56320	0.482000	0.46254	CAC		0.269	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
KCNA4	3739	broad.mit.edu	37	11	30033088	30033088	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr11:30033088C>A	ENST00000328224.6	-	2	2371	c.1138G>T	c.(1138-1140)Gta>Tta	p.V380L	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	380					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	GAAAACCATACAATACAGACT	0.433																																						uc001msk.2																			0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1138-1140)GTA>TTA		potassium voltage-gated channel, shaker-related							84.0	79.0	81.0					11																	30033088		2025	4210	6235	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033088C>A	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.1138G>T	11.37:g.30033088C>A	ENSP00000328511:p.Val380Leu						p.V380L	NM_002233	NP_002224	P22459	KCNA4_HUMAN			2	2290	-			380			Helical; Name=Segment S2; (Potential).			Missense_Mutation	SNP	ENST00000328224.6	37	c.1138G>T	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.494730	0.26774	.	.	ENSG00000182255	ENST00000328224	D	0.98531	-4.98	5.3	4.28	0.50868	Ion transport (1);	0.124552	0.52532	D	0.000074	D	0.94889	0.8348	L	0.33668	1.02	0.46096	D	0.998861	B	0.29115	0.233	B	0.30251	0.113	D	0.92411	0.5937	10	0.72032	D	0.01	.	6.3201	0.21213	0.0:0.7793:0.0:0.2207	.	380	P22459	KCNA4_HUMAN	L	380	ENSP00000328511:V380L	ENSP00000328511:V380L	V	-	1	0	KCNA4	29989664	1.000000	0.71417	0.213000	0.23690	0.357000	0.29423	4.154000	0.58125	2.485000	0.83878	0.563000	0.77884	GTA		0.433	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233	
OR5A1	219982	broad.mit.edu	37	11	59211187	59211187	+	Silent	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr11:59211187C>T	ENST00000302030.2	+	1	571	c.546C>T	c.(544-546)tgC>tgT	p.C182C		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	182						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(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						ACTTCTTCTGCGACCTCCCAC	0.537																																						uc001nnx.1																			0				ovary(1)|central_nervous_system(1)	2						c.(544-546)TGC>TGT		olfactory receptor, family 5, subfamily A,							240.0	236.0	237.0					11																	59211187		2201	4295	6496	SO:0001819	synonymous_variant	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59211187C>T	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.546C>T	11.37:g.59211187C>T							p.C182C	NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN			1	546	+			182			Extracellular (Potential).		B9EH58|Q6IFF2|Q96RB1	Silent	SNP	ENST00000302030.2	37	c.546C>T	CCDS31561.1																																																																																				0.537	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728	
TMEM109	79073	broad.mit.edu	37	11	60687316	60687316	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr11:60687316G>C	ENST00000227525.3	+	2	554	c.151G>C	c.(151-153)Gtt>Ctt	p.V51L	TMEM109_ENST00000536171.1_Missense_Mutation_p.V51L|RP11-881M11.4_ENST00000543907.1_RNA	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	51					cellular response to gamma radiation (GO:0071480)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell death (GO:0060548)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						AGAAGCCCCAGTTGATGTCTT	0.557																																						uc001nqg.2																			0					0						c.(151-153)GTT>CTT		transmembrane protein 109 precursor							149.0	133.0	138.0					11																	60687316		2203	4299	6502	SO:0001583	missense	79073					integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane		g.chr11:60687316G>C		CCDS7996.1	11q12.2	2005-12-22				ENSG00000110108			28771	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_024092		Approved	MGC5508	uc001nqg.3	Q9BVC6		ENST00000227525.3:c.151G>C	11.37:g.60687316G>C	ENSP00000227525:p.Val51Leu					TMEM109_uc001nqh.2_Missense_Mutation_p.V51L	p.V51L	NM_024092	NP_076997	Q9BVC6	TM109_HUMAN			2	529	+			51						Missense_Mutation	SNP	ENST00000227525.3	37	c.151G>C	CCDS7996.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.115906	0.37339	.	.	ENSG00000110108	ENST00000227525;ENST00000446886;ENST00000536171	.	.	.	5.34	2.26	0.28386	.	0.974671	0.08386	N	0.953796	T	0.34337	0.0894	L	0.50333	1.59	0.09310	N	1	B	0.21606	0.058	B	0.22601	0.04	T	0.32534	-0.9903	9	0.37606	T	0.19	-33.5527	3.4111	0.07359	0.0927:0.1716:0.5583:0.1774	.	51	Q9BVC6	TM109_HUMAN	L	51	.	ENSP00000227525:V51L	V	+	1	0	TMEM109	60443892	0.000000	0.05858	0.001000	0.08648	0.313000	0.28021	0.379000	0.20585	0.622000	0.30249	0.563000	0.77884	GTT		0.557	TMEM109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396343.1	NM_024092	
RIN1	9610	broad.mit.edu	37	11	66102539	66102539	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr11:66102539C>T	ENST00000311320.4	-	6	857	c.731G>A	c.(730-732)aGc>aAc	p.S244N	RIN1_ENST00000424433.2_Missense_Mutation_p.S139N|RIN1_ENST00000530056.1_Missense_Mutation_p.S139N|RIN1_ENST00000524804.1_5'Flank|RP11-867G23.12_ENST00000526655.1_RNA	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	244					associative learning (GO:0008306)|endocytosis (GO:0006897)|memory (GO:0007613)|negative regulation of synaptic plasticity (GO:0031914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						CACTTTGAAGCTTCTCTTGAA	0.662																																						uc001ohn.1																			0				lung(2)|breast(1)	3						c.(730-732)AGC>AAC		ras inhibitor RIN1							65.0	62.0	63.0					11																	66102539		2200	4295	6495	SO:0001583	missense	9610				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding	g.chr11:66102539C>T	L36463	CCDS31614.1	11q13.2	2005-09-18				ENSG00000174791			18749	protein-coding gene	gene with protein product		605965				9144171, 1849280	Standard	NM_004292		Approved		uc001ohn.1	Q13671		ENST00000311320.4:c.731G>A	11.37:g.66102539C>T	ENSP00000310406:p.Ser244Asn					RIN1_uc010roy.1_5'UTR|RIN1_uc009yrd.1_5'UTR|RIN1_uc010roz.1_Missense_Mutation_p.S139N|RIN1_uc010rpa.1_Missense_Mutation_p.S139N	p.S244N	NM_004292	NP_004283	Q13671	RIN1_HUMAN			6	858	-			244					O15010|Q00427|Q96CC8	Missense_Mutation	SNP	ENST00000311320.4	37	c.731G>A	CCDS31614.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676091	0.88445	.	.	ENSG00000174791	ENST00000311320;ENST00000424433;ENST00000530056	T;T;T	0.18338	2.76;2.63;2.22	4.43	4.43	0.53597	.	0.184523	0.45126	D	0.000389	T	0.36441	0.0967	M	0.61703	1.905	0.38615	D	0.951002	D;D	0.63880	0.993;0.99	D;P	0.70227	0.968;0.868	T	0.18871	-1.0323	10	0.48119	T	0.1	-20.9476	12.9046	0.58145	0.0:1.0:0.0:0.0	.	139;244	E9PNR2;Q13671	.;RIN1_HUMAN	N	244;139;139	ENSP00000310406:S244N;ENSP00000400560:S139N;ENSP00000432798:S139N	ENSP00000310406:S244N	S	-	2	0	RIN1	65859115	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.105000	0.57797	2.183000	0.69458	0.462000	0.41574	AGC		0.662	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392980.2	NM_004292	
NLRX1	79671	broad.mit.edu	37	11	119044727	119044727	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr11:119044727G>A	ENST00000409109.1	+	5	1356	c.769G>A	c.(769-771)Gga>Aga	p.G257R	NLRX1_ENST00000409991.1_Missense_Mutation_p.G257R|NLRX1_ENST00000292199.2_Missense_Mutation_p.G257R|NLRX1_ENST00000409265.4_Missense_Mutation_p.G257R|NLRX1_ENST00000525863.1_Missense_Mutation_p.G257R	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	257	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Required for interaction with MAVS.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GGCAGGCACGGGACTTTGTAG	0.592																																						uc001pvu.2																			0				ovary(1)|skin(1)	2						c.(769-771)GGA>AGA		NLR family member X1 isoform 1							83.0	71.0	75.0					11																	119044727		2200	4295	6495	SO:0001583	missense	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119044727G>A	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.769G>A	11.37:g.119044727G>A	ENSP00000387334:p.Gly257Arg					NLRX1_uc010rzc.1_Missense_Mutation_p.G79R|NLRX1_uc001pvv.2_Missense_Mutation_p.G257R|NLRX1_uc001pvw.2_Missense_Mutation_p.G257R|NLRX1_uc001pvx.2_Missense_Mutation_p.G257R	p.G257R	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	5	984	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	257			Required for interaction with MAVS.|NACHT.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	ENST00000409109.1	37	c.769G>A	CCDS8416.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426434	0.43020	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.70399	-0.39;-0.39;-0.48;-0.39;-0.48	5.72	4.75	0.60458	NACHT nucleoside triphosphatase (1);	0.329091	0.29876	N	0.010978	T	0.59824	0.2222	N	0.11427	0.14	0.38777	D	0.954687	P;P	0.46512	0.879;0.681	P;P	0.48627	0.572;0.584	T	0.66432	-0.5925	10	0.48119	T	0.1	.	13.881	0.63682	0.0:0.0:0.8479:0.1521	.	257;257	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	R	257	ENSP00000386851:G257R;ENSP00000292199:G257R;ENSP00000386858:G257R;ENSP00000387334:G257R;ENSP00000433442:G257R	ENSP00000292199:G257R	G	+	1	0	NLRX1	118549937	1.000000	0.71417	0.956000	0.39512	0.094000	0.18550	7.482000	0.81143	2.700000	0.92200	0.561000	0.74099	GGA		0.592	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722	
KDM5A	5927	broad.mit.edu	37	12	402172	402172	+	Nonsense_Mutation	SNP	A	A	C			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr12:402172A>C	ENST00000399788.2	-	27	4981	c.4619T>G	c.(4618-4620)tTa>tGa	p.L1540*	KDM5A_ENST00000540838.1_5'Flank|KDM5A_ENST00000382815.4_Nonsense_Mutation_p.L1540*	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1540	Lys-rich.				chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						GTCTGCACCTAATTTTAATTT	0.378			T	NUP98	AML																																	uc001qif.1				Dom	yes		12	12p11	5927	T 	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		0				skin(2)|ovary(1)	3						c.(4618-4620)TTA>TGA		retinoblastoma binding protein 2 isoform 1							141.0	132.0	135.0					12																	402172		1804	4077	5881	SO:0001587	stop_gained	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:402172A>C		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.4619T>G	12.37:g.402172A>C	ENSP00000382688:p.Leu1540*					KDM5A_uc001qie.1_Nonsense_Mutation_p.L1545*	p.L1540*	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN			27	4982	-			1540			Lys-rich.		A8MV76|Q4LE72|Q86XZ1	Nonsense_Mutation	SNP	ENST00000399788.2	37	c.4619T>G	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	A	47	13.154979	0.99723	.	.	ENSG00000073614	ENST00000399788;ENST00000382815	.	.	.	5.77	5.77	0.91146	.	0.405411	0.24483	N	0.038140	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2305	16.0828	0.81017	1.0:0.0:0.0:0.0	.	.	.	.	X	1540	.	ENSP00000372265:L1540X	L	-	2	0	KDM5A	272433	1.000000	0.71417	0.999000	0.59377	0.723000	0.41478	6.345000	0.72995	2.199000	0.70637	0.528000	0.53228	TTA		0.378	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056	
CD163	9332	broad.mit.edu	37	12	7639177	7639177	+	Missense_Mutation	SNP	T	T	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr12:7639177T>A	ENST00000359156.4	-	10	2578	c.2376A>T	c.(2374-2376)gaA>gaT	p.E792D	CD163_ENST00000432237.2_Missense_Mutation_p.E792D|CD163_ENST00000396620.3_Missense_Mutation_p.E825D|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000541972.1_Missense_Mutation_p.E780D	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	792	SRCR 7. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	AAATGCGGGATTCTTTTCCAT	0.512																																						uc001qsz.3																			0				ovary(6)|pancreas(1)|skin(1)	8						c.(2374-2376)GAA>GAT		CD163 antigen isoform a							152.0	152.0	152.0					12																	7639177		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7639177T>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.2376A>T	12.37:g.7639177T>A	ENSP00000352071:p.Glu792Asp					CD163_uc001qta.3_Missense_Mutation_p.E792D|CD163_uc009zfw.2_Missense_Mutation_p.E825D	p.E792D	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			10	2504	-			792			SRCR 7.|Extracellular (Potential).		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.2376A>T	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	T	19.05	3.751923	0.69533	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.62498	0.02;0.02;0.02;0.02	5.54	0.613	0.17597	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.000000	0.85682	D	0.000000	T	0.81927	0.4926	H	0.96489	3.83	0.24479	N	0.994357	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.994;0.998	T	0.72043	-0.4409	10	0.87932	D	0	.	8.0517	0.30581	0.0:0.3716:0.0:0.6283	.	825;792;792	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	D	792;780;825;792	ENSP00000352071:E792D;ENSP00000444071:E780D;ENSP00000379863:E825D;ENSP00000403885:E792D	ENSP00000352071:E792D	E	-	3	2	CD163	7530444	0.000000	0.05858	0.623000	0.29173	0.902000	0.53008	-0.321000	0.08018	0.147000	0.19030	0.528000	0.53228	GAA		0.512	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416	
HOXC9	3225	broad.mit.edu	37	12	54396220	54396220	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr12:54396220C>T	ENST00000303450.4	+	2	615	c.545C>T	c.(544-546)cCc>cTc	p.P182L	HOXC9_ENST00000504557.1_3'UTR|HOXC-AS1_ENST00000505700.1_RNA|HOXC-AS1_ENST00000512427.1_RNA|RP11-834C11.12_ENST00000513209.1_Intron|HOXC9_ENST00000508190.1_Missense_Mutation_p.P182L	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	182					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						CCAGGCAACCCCGTGGCCAAC	0.577																																						uc001sep.2																			0				large_intestine(1)|pancreas(1)|skin(1)	3						c.(544-546)CCC>CTC		homeobox C9							70.0	76.0	74.0					12																	54396220		2203	4300	6503	SO:0001583	missense	3225				multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54396220C>T		CCDS8869.1	12q13.13	2011-06-20	2005-12-22			ENSG00000180806		"""Homeoboxes / ANTP class : HOXL subclass"""	5130	protein-coding gene	gene with protein product		142971	"""homeo box C9"""	HOX3, HOX3B		1973146	Standard	NM_006897		Approved		uc001seq.3	P31274		ENST00000303450.4:c.545C>T	12.37:g.54396220C>T	ENSP00000302836:p.Pro182Leu					HOXC9_uc001seq.2_Missense_Mutation_p.P182L	p.P182L	NM_006897	NP_008828	P31274	HXC9_HUMAN			3	643	+			182					B2RCN7|Q9H1I0	Missense_Mutation	SNP	ENST00000303450.4	37	c.545C>T	CCDS8869.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.879951	0.72294	.	.	ENSG00000180806	ENST00000508190;ENST00000303450	D;D	0.95377	-3.69;-3.69	3.99	3.99	0.46301	Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.64402	D	0.000002	D	0.97362	0.9137	M	0.90198	3.095	0.80722	D	1	P	0.50943	0.94	P	0.55161	0.77	D	0.98350	1.0543	10	0.87932	D	0	.	15.3675	0.74535	0.0:1.0:0.0:0.0	.	182	P31274	HXC9_HUMAN	L	182	ENSP00000423861:P182L;ENSP00000302836:P182L	ENSP00000302836:P182L	P	+	2	0	HOXC9	52682487	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.524000	0.81866	2.244000	0.73946	0.561000	0.74099	CCC		0.577	HOXC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358958.1		
LRP1	4035	broad.mit.edu	37	12	57581220	57581220	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr12:57581220G>A	ENST00000243077.3	+	42	7478	c.7012G>A	c.(7012-7014)Gtt>Att	p.V2338I		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2338					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACGGGCCTTCGTTTTGGACGA	0.632																																						uc001snd.2																			0				ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(7012-7014)GTT>ATT		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						47.0	41.0	43.0					12																	57581220		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57581220G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.7012G>A	12.37:g.57581220G>A	ENSP00000243077:p.Val2338Ile						p.V2338I	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	42	7478	+			2338			LDL-receptor class B 22.|Extracellular (Potential).		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.7012G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.703980	0.48412	.	.	ENSG00000123384	ENST00000243077	D	0.91792	-2.91	4.54	4.54	0.55810	Six-bladed beta-propeller, TolB-like (1);	0.088817	0.43579	D	0.000550	D	0.92909	0.7744	L	0.34521	1.04	0.80722	D	1	D	0.64830	0.994	D	0.63877	0.919	D	0.93358	0.6724	10	0.54805	T	0.06	.	16.567	0.84601	0.0:0.0:1.0:0.0	.	2338	Q07954	LRP1_HUMAN	I	2338	ENSP00000243077:V2338I	ENSP00000243077:V2338I	V	+	1	0	LRP1	55867487	1.000000	0.71417	0.984000	0.44739	0.217000	0.24651	9.566000	0.98157	2.514000	0.84764	0.655000	0.94253	GTT		0.632	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332	
TRHDE	29953	broad.mit.edu	37	12	72666636	72666636	+	Silent	SNP	A	A	G			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr12:72666636A>G	ENST00000261180.4	+	1	174	c.78A>G	c.(76-78)cgA>cgG	p.R26R	TRHDE-AS1_ENST00000550334.1_RNA|TRHDE-AS1_ENST00000435350.1_RNA|TRHDE-AS1_ENST00000426250.3_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	26					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TGGGAGTGCGACCCCGCACCA	0.687																																						uc010stv.1																			0					0						c.(73-75)GTC>GCC		Homo sapiens thyrotropin-releasing hormone degrading enzyme, mRNA (cDNA clone IMAGE:4992272).							18.0	14.0	15.0					12																	72666636		2193	4285	6478	SO:0001819	synonymous_variant	283392							g.chr12:72666636A>G	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.78A>G	12.37:g.72666636A>G						TRHDE_uc001sxa.2_Silent_p.R26R	p.V25A	NR_026836						1	654	-								A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.74T>C	CCDS9004.1																																																																																				0.687	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381	
SBNO1	55206	broad.mit.edu	37	12	123782584	123782584	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr12:123782584C>T	ENST00000602398.1	-	31	4107	c.3980G>A	c.(3979-3981)gGc>gAc	p.G1327D	SBNO1_ENST00000267176.4_Missense_Mutation_p.G1326D|SBNO1_ENST00000602750.1_Missense_Mutation_p.G1326D|SBNO1_ENST00000420886.2_Missense_Mutation_p.G1327D			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1327					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CACGTTTGTGCCACTGACAGA	0.428																																						uc010tap.1																			0				breast(5)|skin(2)|ovary(1)|kidney(1)	9						c.(3979-3981)GGC>GAC		sno, strawberry notch homolog 1							215.0	186.0	196.0					12																	123782584		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123782584C>T	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.3980G>A	12.37:g.123782584C>T	ENSP00000473665:p.Gly1327Asp					SBNO1_uc009zxv.2_RNA|SBNO1_uc010tao.1_Missense_Mutation_p.G1326D|SBNO1_uc010taq.1_Missense_Mutation_p.G278D	p.G1327D	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	30	3980	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1327					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.3980G>A	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.955457	0.92726	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	D;D	0.81739	-1.53;-1.53	5.63	5.63	0.86233	.	0.057330	0.64402	D	0.000001	D	0.89382	0.6699	M	0.75085	2.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	D	0.85568	0.1232	10	0.23302	T	0.38	-3.4964	20.1116	0.97914	0.0:1.0:0.0:0.0	.	1327;1326	A3KN83;A3KN83-2	SBNO1_HUMAN;.	D	1327;1326	ENSP00000387361:G1327D;ENSP00000267176:G1326D	ENSP00000267176:G1326D	G	-	2	0	SBNO1	122348537	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.729000	0.84864	2.833000	0.97629	0.650000	0.86243	GGC		0.428	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183	
MTHFD1	4522	broad.mit.edu	37	14	64882182	64882182	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr14:64882182A>G	ENST00000545908.1	+	5	744	c.515A>G	c.(514-516)aAt>aGt	p.N172S	MTHFD1_ENST00000216605.8_Missense_Mutation_p.N116S			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	116	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	GAAGTGATCAATGCTATTGCA	0.383																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)	uc001xhb.2																			0				ovary(2)	2						c.(346-348)AAT>AGT		methylenetetrahydrofolate dehydrogenase 1	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						229.0	213.0	219.0					14																	64882182		2203	4300	6503	SO:0001583	missense	4522				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|methylenetetrahydrofolate dehydrogenase|protein binding	g.chr14:64882182A>G	J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.515A>G	14.37:g.64882182A>G	ENSP00000438588:p.Asn172Ser					MTHFD1_uc010aqe.2_Missense_Mutation_p.N152S|MTHFD1_uc010aqf.2_Missense_Mutation_p.N172S	p.N116S	NM_005956	NP_005947	P11586	C1TC_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	5	734	+			116			Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.		B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Missense_Mutation	SNP	ENST00000545908.1	37	c.347A>G		.	.	.	.	.	.	.	.	.	.	A	11.51	1.661491	0.29515	.	.	ENSG00000100714	ENST00000545908;ENST00000555709;ENST00000216605;ENST00000555252	T;T;T;T	0.21734	2.78;2.79;2.79;1.99	4.96	4.96	0.65561	Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.20941	0.0504	L	0.53671	1.685	0.80722	D	1	B;B;P	0.41597	0.229;0.087;0.756	B;B;B	0.37601	0.028;0.038;0.254	T	0.03630	-1.1018	10	0.23302	T	0.38	-21.525	14.9498	0.71064	1.0:0.0:0.0:0.0	.	172;116;116	F5H2F4;P11586;G3V2B8	.;C1TC_HUMAN;.	S	172;116;172;96	ENSP00000438588:N172S;ENSP00000450560:N116S;ENSP00000216605:N172S;ENSP00000451309:N96S	ENSP00000216605:N116S	N	+	2	0	MTHFD1	63951935	1.000000	0.71417	0.992000	0.48379	0.144000	0.21451	8.842000	0.92136	1.994000	0.58287	0.374000	0.22700	AAT		0.383	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1		
CCDC88C	440193	broad.mit.edu	37	14	91770270	91770270	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr14:91770270G>A	ENST00000389857.6	-	20	3496	c.3410C>T	c.(3409-3411)aCg>aTg	p.T1137M		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1137					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTGCAGCAGCGTGTACTGCGC	0.657																																						uc010aty.2																			0				ovary(3)	3						c.(3409-3411)ACG>ATG		DVL-binding protein DAPLE							69.0	76.0	74.0					14																	91770270		2152	4251	6403	SO:0001583	missense	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91770270G>A		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.3410C>T	14.37:g.91770270G>A	ENSP00000374507:p.Thr1137Met						p.T1137M	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN			20	3509	-		all_cancers(154;0.0468)	1137					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	c.3410C>T	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.957995	0.53400	.	.	ENSG00000015133	ENST00000389857	T	0.15017	2.46	5.38	5.38	0.77491	.	0.265056	0.26428	U	0.024439	T	0.31389	0.0795	M	0.68952	2.095	0.80722	D	1	P	0.38535	0.635	P	0.44732	0.459	T	0.04281	-1.0963	10	0.87932	D	0	-2.9846	19.4757	0.94987	0.0:0.0:1.0:0.0	.	1137	Q9P219	DAPLE_HUMAN	M	1137	ENSP00000374507:T1137M	ENSP00000374507:T1137M	T	-	2	0	CCDC88C	90840023	0.997000	0.39634	0.080000	0.20451	0.136000	0.21042	7.477000	0.81069	2.669000	0.90835	0.561000	0.74099	ACG		0.657	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353	
OR4N3P	390539	broad.mit.edu	37	15	22413894	22413894	+	IGR	SNP	A	A	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr15:22413894A>T								RP11-69H14.6 (30086 upstream) : RP11-2F9.4 (19995 downstream)																							CTATGCAATGATGTTGGCTCT	0.502																																						uc001yuf.2																			0					0						c.(193-195)ATG>TTG		RecName: Full=Olfactory receptor 4N2; AltName: Full=Olfactory receptor OR14-8; AltName: Full=Olfactory receptor OR14-13;																																				SO:0001628	intergenic_variant	390539							g.chr15:22413894A>T																													15.37:g.22413894A>T							p.M65L	NM_001080841	NP_001074310					1	193	+									Missense_Mutation	SNP		37	c.193A>T																																																																																				0	0.502								
ATF7IP2	80063	broad.mit.edu	37	16	10527480	10527480	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr16:10527480G>C	ENST00000396560.2	+	4	1161	c.934G>C	c.(934-936)Gaa>Caa	p.E312Q	ATF7IP2_ENST00000324570.5_Missense_Mutation_p.E312Q|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.E312Q|ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.E312Q	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	312					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						TGTAAGTTTGGAAAGGCAAAC	0.328																																						uc002czu.2																			0					0						c.(934-936)GAA>CAA		activating transcription factor 7 interacting							57.0	59.0	58.0					16																	10527480		2197	4299	6496	SO:0001583	missense	80063				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr16:10527480G>C	AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.934G>C	16.37:g.10527480G>C	ENSP00000379808:p.Glu312Gln					ATF7IP2_uc002czv.2_Missense_Mutation_p.E312Q|ATF7IP2_uc010uyo.1_RNA|ATF7IP2_uc010uyp.1_Intron|ATF7IP2_uc002czw.2_Missense_Mutation_p.E312Q|ATF7IP2_uc010uyq.1_RNA	p.E312Q	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN			4	1161	+			312					B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Missense_Mutation	SNP	ENST00000396560.2	37	c.934G>C	CCDS10540.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.523623	0.27299	.	.	ENSG00000166669	ENST00000396559;ENST00000396560;ENST00000535850;ENST00000356427;ENST00000324570	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	5.02	4.06	0.47325	.	0.094580	0.46442	D	0.000283	T	0.34483	0.0899	L	0.31752	0.955	0.23923	N	0.996455	P;B	0.40360	0.714;0.222	B;B	0.36766	0.232;0.067	T	0.21109	-1.0255	10	0.51188	T	0.08	-20.0263	11.9378	0.52884	0.0:0.1751:0.8249:0.0	.	312;312	Q5U623-2;Q5U623	.;MCAF2_HUMAN	Q	312	ENSP00000379807:E312Q;ENSP00000379808:E312Q;ENSP00000440791:E312Q;ENSP00000348799:E312Q;ENSP00000322811:E312Q	ENSP00000322811:E312Q	E	+	1	0	ATF7IP2	10434981	1.000000	0.71417	0.996000	0.52242	0.593000	0.36681	2.282000	0.43461	1.253000	0.44018	-0.155000	0.13514	GAA		0.328	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	NM_024997	
VWA3A	146177	broad.mit.edu	37	16	22137566	22137566	+	Missense_Mutation	SNP	C	C	T	rs370995399		TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr16:22137566C>T	ENST00000389398.5	+	17	1696	c.1600C>T	c.(1600-1602)Cgg>Tgg	p.R534W	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	534	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GCACTCCCTGCGGCTGCTGCT	0.512																																						uc010vbq.1																			0				skin(1)	1						c.(1600-1602)CGG>TGG		von Willebrand factor A domain containing 3A		C	TRP/ARG	1,3891		0,1,1945	116.0	116.0	116.0		1600	1.2	1.0	16		116	0,8292		0,0,4146	no	missense	VWA3A	NM_173615.3	101	0,1,6091	TT,TC,CC		0.0,0.0257,0.0082	probably-damaging	534/1185	22137566	1,12183	1946	4146	6092	SO:0001583	missense	146177					extracellular region		g.chr16:22137566C>T	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.1600C>T	16.37:g.22137566C>T	ENSP00000374049:p.Arg534Trp					VWA3A_uc010bxd.2_RNA|VWA3A_uc010bxc.2_Missense_Mutation_p.R542W	p.R534W	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN		GBM - Glioblastoma multiforme(48;0.0439)	17	1696	+			534			VWFA 1.		A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	ENST00000389398.5	37	c.1600C>T	CCDS45441.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.623912	0.66901	2.57E-4	0.0	ENSG00000175267	ENST00000389398;ENST00000299840	T	0.07688	3.17	4.97	1.21	0.21127	.	0.000000	0.64402	D	0.000002	T	0.26376	0.0644	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.04360	-1.0957	10	0.72032	D	0.01	.	13.5344	0.61639	0.5223:0.4777:0.0:0.0	.	534;158	A6NCI4;A6NCI4-2	VWA3A_HUMAN;.	W	534;157	ENSP00000374049:R534W	ENSP00000299840:R157W	R	+	1	2	VWA3A	22045067	0.999000	0.42202	0.988000	0.46212	0.998000	0.95712	0.448000	0.21726	0.427000	0.26145	0.650000	0.86243	CGG		0.512	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1		
PLCG2	5336	broad.mit.edu	37	16	81942086	81942086	+	Silent	SNP	G	G	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr16:81942086G>A	ENST00000359376.3	+	17	1837	c.1623G>A	c.(1621-1623)acG>acA	p.T541T		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	541	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.		T -> A (in dbSNP:rs11548657).		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						AGAAGAGGACGAGTGCCGAGA	0.552																																						uc002fgt.2																			0				large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						c.(1621-1623)ACG>ACA		phospholipase C, gamma 2							77.0	80.0	79.0					16																	81942086		2004	4172	6176	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.chr16:81942086G>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.1623G>A	16.37:g.81942086G>A						PLCG2_uc010chg.1_Silent_p.T541T	p.T541T	NM_002661	NP_002652	P16885	PLCG2_HUMAN			17	1775	+			541			SH2 1.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Silent	SNP	ENST00000359376.3	37	c.1623G>A	CCDS42204.1																																																																																				0.552	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1		
UBTF	7343	broad.mit.edu	37	17	42284949	42284949	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr17:42284949T>C	ENST00000302904.4	-	20	2534	c.2042A>G	c.(2041-2043)gAt>gGt	p.D681G	UBTF_ENST00000436088.1_Missense_Mutation_p.D681G|UBTF_ENST00000533177.1_Missense_Mutation_p.D644G|UBTF_ENST00000526094.1_Missense_Mutation_p.D644G|UBTF_ENST00000527034.1_Missense_Mutation_p.M643V|UBTF_ENST00000529383.1_Missense_Mutation_p.D681G|UBTF_ENST00000343638.5_Missense_Mutation_p.D644G|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000393606.3_Missense_Mutation_p.D644G			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	681	Asp/Glu/Ser-rich (acidic).				chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		atcctcttcatcatcctcctc	0.592																																						uc002igb.2																			0					0						c.(2041-2043)GAT>GGT		upstream binding transcription factor, RNA							161.0	107.0	125.0					17																	42284949		2203	4300	6503	SO:0001583	missense	7343				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding	g.chr17:42284949T>C	BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.2042A>G	17.37:g.42284949T>C	ENSP00000302640:p.Asp681Gly					UBTF_uc002igc.2_Missense_Mutation_p.D644G|UBTF_uc010czs.2_Missense_Mutation_p.D681G|UBTF_uc002igd.2_Missense_Mutation_p.D644G|UBTF_uc010czt.2_Missense_Mutation_p.D681G	p.D681G	NM_014233	NP_055048	P17480	UBF1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	19	2109	-		Breast(137;0.00765)|Prostate(33;0.0181)	681			Asp/Glu/Ser-rich (acidic).		A8K6R8	Missense_Mutation	SNP	ENST00000302904.4	37	c.2042A>G	CCDS11480.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.69|10.69	1.422368|1.422368	0.25639|0.25639	.|.	.|.	ENSG00000108312|ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383|ENST00000527034	D;D;D;D;D;D;D|D	0.98135|0.98060	-4.74;-4.01;-4.74;-4.01;-4.74;-4.74;-4.01|-4.69	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	1.069620|.	0.07317|.	N|.	0.876871|.	D|D	0.95137|0.95137	0.8424|0.8424	N|N	0.14661|0.14661	0.345|0.345	0.38882|0.38882	D|D	0.956934|0.956934	P;B|.	0.37330|.	0.59;0.155|.	B;B|.	0.35607|.	0.206;0.029|.	D|D	0.95259|0.95259	0.8367|0.8367	10|7	0.44086|0.34782	T|T	0.13|0.22	-6.2563|-6.2563	14.6214|14.6214	0.68588|0.68588	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	644;681|.	P17480-2;P17480|.	.;UBF1_HUMAN|.	G|V	644;681;644;681;644;644;681|643	ENSP00000345297:D644G;ENSP00000302640:D681G;ENSP00000437180:D644G;ENSP00000390669:D681G;ENSP00000377231:D644G;ENSP00000432925:D644G;ENSP00000435708:D681G|ENSP00000431539:M643V	ENSP00000302640:D681G|ENSP00000431539:M643V	D|M	-|-	2|1	0|0	UBTF|UBTF	39640475|39640475	1.000000|1.000000	0.71417|0.71417	0.505000|0.505000	0.27651|0.27651	0.989000|0.989000	0.77384|0.77384	6.568000|6.568000	0.73987|0.73987	2.132000|2.132000	0.65825|0.65825	0.402000|0.402000	0.26972|0.26972	GAT|ATG		0.592	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233	
DSC2	1824	broad.mit.edu	37	18	28671015	28671015	+	Silent	SNP	A	A	C			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr18:28671015A>C	ENST00000280904.6	-	4	893	c.450T>G	c.(448-450)ggT>ggG	p.G150G	DSC2_ENST00000251081.6_Silent_p.G150G	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	150	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GTGGAAAAGGACCCAAGGAGT	0.408																																						uc002kwl.3																			0				ovary(2)|skin(1)	3						c.(448-450)GGT>GGG		desmocollin 2 isoform Dsc2a preproprotein							120.0	110.0	114.0					18																	28671015		2203	4300	6503	SO:0001819	synonymous_variant	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28671015A>C	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.450T>G	18.37:g.28671015A>C						DSC2_uc002kwk.3_Silent_p.G150G	p.G150G	NM_024422	NP_077740	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		4	904	-			150			Cadherin 1.|Extracellular (Potential).			Silent	SNP	ENST00000280904.6	37	c.450T>G	CCDS11892.1																																																																																				0.408	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949	
DSG3	1830	broad.mit.edu	37	18	29046498	29046498	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr18:29046498A>T	ENST00000257189.4	+	11	1500	c.1417A>T	c.(1417-1419)Acg>Tcg	p.T473S		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	473	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TACAGAATACACGGGTAAAAC	0.358																																						uc002kws.2																			0				skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9						c.(1417-1419)ACG>TCG		desmoglein 3 preproprotein							101.0	98.0	99.0					18																	29046498		2203	4300	6503	SO:0001583	missense	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29046498A>T	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.1417A>T	18.37:g.29046498A>T	ENSP00000257189:p.Thr473Ser						p.T473S	NM_001944	NP_001935	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		11	1526	+			473			Cadherin 4.|Extracellular (Potential).		A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	c.1417A>T	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	A	0.044	-1.271582	0.01421	.	.	ENSG00000134757	ENST00000257189	T	0.60424	0.19	5.45	5.45	0.79879	Cadherin (3);Cadherin-like (1);	0.141025	0.33110	N	0.005275	T	0.34279	0.0892	N	0.10916	0.065	0.32468	N	0.543142	B	0.24823	0.112	B	0.18871	0.023	T	0.41716	-0.9493	10	0.16896	T	0.51	.	10.6825	0.45823	0.7201:0.2799:0.0:0.0	.	473	P32926	DSG3_HUMAN	S	473	ENSP00000257189:T473S	ENSP00000257189:T473S	T	+	1	0	DSG3	27300496	0.522000	0.26266	0.692000	0.30179	0.092000	0.18411	2.655000	0.46707	2.285000	0.76669	0.477000	0.44152	ACG		0.358	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944	
NEDD4L	23327	broad.mit.edu	37	18	55916158	55916158	+	Frame_Shift_Del	DEL	T	T	-			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr18:55916158delT	ENST00000400345.3	+	4	515	c.232delT	c.(232-234)tttfs	p.F78fs	NEDD4L_ENST00000435432.2_5'UTR|NEDD4L_ENST00000456173.2_5'UTR|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000256832.7_5'UTR|NEDD4L_ENST00000586263.1_Frame_Shift_Del_p.F70fs|NEDD4L_ENST00000431212.2_5'UTR|NEDD4L_ENST00000357895.5_Frame_Shift_Del_p.F70fs|NEDD4L_ENST00000382850.4_Frame_Shift_Del_p.F78fs|NEDD4L_ENST00000256830.9_Frame_Shift_Del_p.F78fs|NEDD4L_ENST00000456986.1_5'UTR|NEDD4L_ENST00000356462.6_Frame_Shift_Del_p.F78fs	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	78	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						GAATGAAGAATTTTATTTCAG	0.313																																						uc002lgy.2																			0				lung(4)	4						c.(232-234)TTTfs		neural precursor cell expressed, developmentally							51.0	46.0	48.0					18																	55916158		1759	3949	5708	SO:0001589	frameshift_variant	23327				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity	g.chr18:55916158delT	AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"""neural precursor cell expressed, developmentally down-regulated 4-like"""			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.232delT	18.37:g.55916158delT	ENSP00000383199:p.Phe78fs					NEDD4L_uc002lgz.2_Frame_Shift_Del_p.F78fs|NEDD4L_uc002lgx.2_Frame_Shift_Del_p.F78fs|NEDD4L_uc010xee.1_5'UTR|NEDD4L_uc002lhc.2_Frame_Shift_Del_p.F70fs|NEDD4L_uc002lhd.2_5'UTR|NEDD4L_uc002lhb.2_5'UTR|NEDD4L_uc002lhe.2_Frame_Shift_Del_p.F70fs|NEDD4L_uc002lhf.2_5'UTR|NEDD4L_uc010dpl.1_RNA|NEDD4L_uc002lhg.2_5'UTR|NEDD4L_uc002lhh.2_5'UTR	p.F78fs	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN			4	506	+			78			C2.		O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Frame_Shift_Del	DEL	ENST00000400345.3	37	c.232delT	CCDS45872.1																																																																																				0.313	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1		
CREB3L3	84699	broad.mit.edu	37	19	4171163	4171163	+	Silent	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr19:4171163C>T	ENST00000078445.2	+	8	1113	c.966C>T	c.(964-966)acC>acT	p.T322T	CREB3L3_ENST00000602147.1_Silent_p.L287L|CREB3L3_ENST00000602257.1_Silent_p.T320T|CREB3L3_ENST00000252587.3_Intron|CREB3L3_ENST00000595923.1_Silent_p.T321T	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	322					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)		AGACAGGCACCTGTGTCGCAG	0.602																																						uc002lzl.2																			0				ovary(1)|skin(1)	2						c.(964-966)ACC>ACT		cAMP responsive element binding protein 3-like							68.0	63.0	65.0					19																	4171163		2203	4300	6503	SO:0001819	synonymous_variant	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.chr19:4171163C>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.966C>T	19.37:g.4171163C>T						CREB3L3_uc002lzm.2_Silent_p.T312T|CREB3L3_uc010xib.1_Silent_p.T311T|CREB3L3_uc010xic.1_Silent_p.L278L	p.T322T	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)	8	1082	+			322			Cytoplasmic (Potential).		B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Silent	SNP	ENST00000078445.2	37	c.966C>T	CCDS12121.1																																																																																				0.602	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	NM_032607	
MYO1F	4542	broad.mit.edu	37	19	8616651	8616651	+	Silent	SNP	G	G	A	rs201115094		TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr19:8616651G>A	ENST00000338257.8	-	8	1011	c.744C>T	c.(742-744)gaC>gaT	p.D248D	AC092316.1_ENST00000598703.1_RNA	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	248	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)	p.D248D(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CGCTTCTGTCGTCCGTGCCGT	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		17447	0.0		0.0	False		,,,				2504	0.001					uc002mkg.2																			1	Substitution - coding silent(1)		large_intestine(1)	ovary(2)|skin(1)	3						c.(742-744)GAC>GAT		myosin IF		G		0,4126		0,0,2063	140.0	143.0	142.0		744	-0.7	1.0	19		142	5,8393		0,5,4194	no	coding-synonymous	MYO1F	NM_012335.3		0,5,6257	AA,AG,GG		0.0595,0.0,0.0399		248/1099	8616651	5,12519	2063	4199	6262	SO:0001819	synonymous_variant	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8616651G>A	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.744C>T	19.37:g.8616651G>A						MYO1F_uc002mkh.2_Silent_p.D248D|MYO1F_uc010xkf.1_3'UTR	p.D248D	NM_012335	NP_036467	O00160	MYO1F_HUMAN			8	858	-			248			Myosin head-like.		Q8WWN7	Silent	SNP	ENST00000338257.8	37	c.744C>T	CCDS42494.1																																																																																				0.582	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2		
JAK3	3718	broad.mit.edu	37	19	17937673	17937673	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr19:17937673C>T	ENST00000527670.1	-	23	3283	c.3254G>A	c.(3253-3255)cGg>cAg	p.R1085Q	JAK3_ENST00000458235.1_Missense_Mutation_p.R1085Q			P52333	JAK3_HUMAN	Janus kinase 3	1085	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	GAATGATGGCCGGTCCTGTGG	0.632		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	uc002nhn.3		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			acute megakaryocytic leukemia|		0				haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	56						c.(3253-3255)CGG>CAG		Janus kinase 3							69.0	67.0	68.0					19																	17937673		2203	4300	6503	SO:0001583	missense	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17937673C>T	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.3254G>A	19.37:g.17937673C>T	ENSP00000432511:p.Arg1085Gln					JAK3_uc010ebh.2_Intron	p.R1085Q	NM_000215	NP_000206	P52333	JAK3_HUMAN			24	3354	-			1085			Protein kinase 2.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	c.3254G>A	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	c	19.75	3.885091	0.72410	.	.	ENSG00000105639	ENST00000458235;ENST00000527670	D;D	0.87729	-2.29;-2.29	3.61	3.61	0.41365	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.94686	0.8286	H	0.97051	3.93	0.80722	D	1	D	0.76494	0.999	P	0.61201	0.885	D	0.95948	0.8952	9	0.87932	D	0	-5.4329	12.7889	0.57522	0.0:1.0:0.0:0.0	.	1085	P52333	JAK3_HUMAN	Q	1085	ENSP00000391676:R1085Q;ENSP00000432511:R1085Q	ENSP00000391676:R1085Q	R	-	2	0	JAK3	17798673	1.000000	0.71417	0.999000	0.59377	0.502000	0.33828	5.065000	0.64344	1.877000	0.54381	0.306000	0.20318	CGG		0.632	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215	
PAK4	10298	broad.mit.edu	37	19	39665625	39665625	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr19:39665625T>C	ENST00000593690.1	+	7	1580	c.1153T>C	c.(1153-1155)Tac>Cac	p.Y385H	PAK4_ENST00000599386.1_Missense_Mutation_p.Y232H|PAK4_ENST00000358301.3_Missense_Mutation_p.Y385H|PAK4_ENST00000360442.3_Missense_Mutation_p.Y385H|PAK4_ENST00000599470.1_Missense_Mutation_p.Y232H|PAK4_ENST00000435673.2_Missense_Mutation_p.Y385H|PAK4_ENST00000321944.4_Missense_Mutation_p.Y295H	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	385	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			GTACAACAGCTACCTGGTGGG	0.617																																						uc002okj.1																			0				lung(3)|ovary(1)	4						c.(1153-1155)TAC>CAC		p21-activated kinase 4 isoform 1							180.0	162.0	168.0					19																	39665625		2203	4300	6503	SO:0001583	missense	10298				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr19:39665625T>C	AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17						16059	protein-coding gene	gene with protein product		605451	"""p21(CDKN1A)-activated kinase 4"""			9822598, 10461188	Standard	NM_001014831		Approved		uc002okn.1	O96013		ENST00000593690.1:c.1153T>C	19.37:g.39665625T>C	ENSP00000469413:p.Tyr385His					PAK4_uc002okl.1_Missense_Mutation_p.Y385H|PAK4_uc002okn.1_Missense_Mutation_p.Y385H|PAK4_uc002okm.1_Missense_Mutation_p.Y232H|PAK4_uc002oko.1_Missense_Mutation_p.Y232H|PAK4_uc002okp.1_Missense_Mutation_p.Y295H	p.Y385H	NM_001014831	NP_001014831	O96013	PAK4_HUMAN	Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)		7	1614	+	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		385			Protein kinase.		B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	Missense_Mutation	SNP	ENST00000593690.1	37	c.1153T>C	CCDS12528.1	.	.	.	.	.	.	.	.	.	.	T	16.20	3.054907	0.55325	.	.	ENSG00000130669	ENST00000358301;ENST00000321944;ENST00000358801;ENST00000542377;ENST00000435673;ENST00000360442	T;T;T	0.14640	2.49;2.49;2.49	4.24	4.24	0.50183	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.29556	0.0737	L	0.52206	1.635	0.80722	D	1	D;B;P	0.89917	1.0;0.442;0.742	D;B;P	0.87578	0.998;0.205;0.45	T	0.01993	-1.1233	10	0.87932	D	0	.	11.3391	0.49523	0.0:0.0:0.0:1.0	.	295;232;385	O96013-4;O96013-3;O96013	.;.;PAK4_HUMAN	H	385;232;189;141;385;385	ENSP00000351049:Y385H;ENSP00000392753:Y385H;ENSP00000353625:Y385H	ENSP00000326864:Y232H	Y	+	1	0	PAK4	44357465	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.577000	0.82486	1.777000	0.52277	0.454000	0.30748	TAC		0.617	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463823.1		
ZNF8	7554	broad.mit.edu	37	19	58805490	58805490	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr19:58805490G>A	ENST00000196548.5	+	4	447	c.316G>A	c.(316-318)Gca>Aca	p.A106T	ZNF8_ENST00000608843.1_Missense_Mutation_p.A106T|AC010642.1_ENST00000591325.1_3'UTR			P17098	ZNF8_HUMAN	zinc finger protein 8	106					BMP signaling pathway (GO:0030509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		TGAAAGCCAAGCATCACGCAA	0.542																																						uc002qry.1																			0				ovary(1)	1						c.(316-318)GCA>ACA		zinc finger protein 8							62.0	54.0	56.0					19																	58805490		2203	4300	6503	SO:0001583	missense	7554				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58805490G>A	M29581	CCDS12974.1	19q13.43	2013-01-08	2006-05-09					"""Zinc fingers, C2H2-type"", ""-"""	13154	protein-coding gene	gene with protein product		194532	"""zinc finger protein 8 (clone HF.18)"""			2106481	Standard	NM_021089		Approved	HF.18, Zfp128	uc002qry.1	P17098		ENST00000196548.5:c.316G>A	19.37:g.58805490G>A	ENSP00000196548:p.Ala106Thr					ZNF8_uc002qrz.2_RNA	p.A106T	NM_021089	NP_066575	P17098	ZNF8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)	4	446	+		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)	106					Q6PI99	Missense_Mutation	SNP	ENST00000196548.5	37	c.316G>A	CCDS12974.1	.	.	.	.	.	.	.	.	.	.	G	9.756	1.168746	0.21621	.	.	ENSG00000083842	ENST00000196548	T	0.05580	3.42	4.58	-1.86	0.07760	.	1.818140	0.02740	N	0.116150	T	0.03263	0.0095	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.39941	-0.9589	10	0.15066	T	0.55	0.8418	4.9159	0.13846	0.4156:0.1494:0.4351:0.0	.	106	P17098	ZNF8_HUMAN	T	106	ENSP00000196548:A106T	ENSP00000196548:A106T	A	+	1	0	ZNF8	63497302	0.000000	0.05858	0.000000	0.03702	0.130000	0.20726	0.023000	0.13533	-0.309000	0.08779	0.650000	0.86243	GCA		0.542	ZNF8-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000459135.1	NM_021089	
MERTK	10461	broad.mit.edu	37	2	112785992	112785992	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr2:112785992A>G	ENST00000295408.4	+	19	2808	c.2551A>G	c.(2551-2553)Agg>Ggg	p.R851G	MERTK_ENST00000421804.2_Missense_Mutation_p.R851G|MERTK_ENST00000409780.1_Missense_Mutation_p.R675G			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	851	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TTCAGTATTGAGGCTGCAGCT	0.453																																						uc002thk.1																			0				lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1)	9						c.(2551-2553)AGG>GGG		MER receptor tyrosine kinase precursor							70.0	77.0	75.0					2																	112785992		2203	4300	6503	SO:0001583	missense	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112785992A>G	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.2551A>G	2.37:g.112785992A>G	ENSP00000295408:p.Arg851Gly					MERTK_uc002thl.1_Missense_Mutation_p.R675G	p.R851G	NM_006343	NP_006334	Q12866	MERTK_HUMAN			19	2673	+			851			Protein kinase.|Cytoplasmic (Potential).		Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.2551A>G	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.322662	0.81580	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000393237;ENST00000409780;ENST00000449344	T;T;T;T	0.62498	0.02;0.02;0.02;0.02	5.75	5.75	0.90469	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.439282	0.16616	U	0.206706	T	0.69663	0.3136	L	0.45352	1.415	0.50632	D	0.999881	D	0.54047	0.964	P	0.55871	0.786	T	0.71712	-0.4510	10	0.87932	D	0	-22.731	16.0351	0.80621	1.0:0.0:0.0:0.0	.	851	Q12866	MERTK_HUMAN	G	851;851;510;675;175	ENSP00000295408:R851G;ENSP00000389152:R851G;ENSP00000387277:R675G;ENSP00000412660:R175G	ENSP00000295408:R851G	R	+	1	2	MERTK	112502463	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.253000	0.65452	2.181000	0.69327	0.533000	0.62120	AGG		0.453	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2		
TTN	7273	broad.mit.edu	37	2	179594237	179594237	+	Missense_Mutation	SNP	C	C	T	rs369242073		TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr2:179594237C>T	ENST00000591111.1	-	62	17919	c.17695G>A	c.(17695-17697)Gtg>Atg	p.V5899M	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.V6216M|TTN_ENST00000342992.6_Missense_Mutation_p.V4972M|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12695	Ig-like 40.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCAGCTCCACGTCACTATAT	0.448																																						uc010zfg.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(14914-14916)GTG>ATG		titin isoform N2-A		C	MET/VAL,,,	1,3751		0,1,1875	116.0	106.0	110.0		14914,,,	5.9	1.0	2		110	0,8222		0,0,4111	no	missense,intron,intron,intron	TTN	NM_133378.4,NM_003319.4,NM_133432.3,NM_133437.3	21,,,	0,1,5986	TT,TC,CC		0.0,0.0267,0.0084	probably-damaging,,,	4972/33424,,,	179594237	1,11973	1876	4111	5987	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179594237C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.17695G>A	2.37:g.179594237C>T	ENSP00000465570:p.Val5899Met					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V1633M	p.V4972M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		61	15138	-			5899					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.14914G>A		.	.	.	.	.	.	.	.	.	.	C	15.50	2.852148	0.51270	2.67E-4	0.0	ENSG00000155657	ENST00000342992	T	0.51817	0.69	5.92	5.92	0.95590	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71169	0.3308	M	0.80982	2.52	0.80722	D	1	D	0.76494	0.999	D	0.63793	0.918	T	0.73607	-0.3929	9	0.87932	D	0	.	20.3081	0.98638	0.0:1.0:0.0:0.0	.	5899	Q8WZ42	TITIN_HUMAN	M	4972	ENSP00000343764:V4972M	ENSP00000343764:V4972M	V	-	1	0	TTN	179302482	1.000000	0.71417	0.996000	0.52242	0.958000	0.62258	3.895000	0.56258	2.795000	0.96236	0.655000	0.94253	GTG		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
PIKFYVE	200576	broad.mit.edu	37	2	209153464	209153464	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr2:209153464C>T	ENST00000264380.4	+	7	991	c.833C>T	c.(832-834)cCa>cTa	p.P278L	PIKFYVE_ENST00000407449.1_Missense_Mutation_p.P278L|PIKFYVE_ENST00000308862.6_Missense_Mutation_p.P192L|PIKFYVE_ENST00000392202.3_Missense_Mutation_p.P181L	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	278					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TTGATTCATCCAGATTCCTCA	0.343																																						uc002vcz.2																			0				ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						c.(832-834)CCA>CTA		phosphatidylinositol-3-phosphate 5-kinase type							77.0	76.0	76.0					2																	209153464		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209153464C>T	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.833C>T	2.37:g.209153464C>T	ENSP00000264380:p.Pro278Leu					PIKFYVE_uc010fun.1_5'UTR|PIKFYVE_uc002vcy.1_Missense_Mutation_p.P278L|PIKFYVE_uc002vcv.2_Missense_Mutation_p.P181L|PIKFYVE_uc002vcw.2_Missense_Mutation_p.P278L|PIKFYVE_uc002vcx.2_Missense_Mutation_p.P192L	p.P278L	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN			7	991	+			278					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.833C>T	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820830	0.71028	.	.	ENSG00000115020	ENST00000392202;ENST00000264380;ENST00000407449;ENST00000308862;ENST00000452564	T;T;T	0.63417	1.65;-0.04;1.82	6.06	5.16	0.70880	.	0.147662	0.47093	D	0.000244	T	0.44685	0.1305	N	0.14661	0.345	0.54753	D	0.999987	B;P;B;B;B	0.43094	0.181;0.799;0.278;0.281;0.397	B;B;B;B;B	0.38562	0.031;0.276;0.114;0.038;0.114	T	0.41360	-0.9513	10	0.30078	T	0.28	-2.42	14.2315	0.65895	0.2714:0.7286:0.0:0.0	.	278;278;192;278;181	Q9Y2I7;E9PDH4;Q9Y2I7-3;Q08AR7;Q9Y2I7-2	FYV1_HUMAN;.;.;.;.	L	181;278;278;192;278	ENSP00000264380:P278L;ENSP00000384356:P278L;ENSP00000405736:P278L	ENSP00000264380:P278L	P	+	2	0	PIKFYVE	208861709	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.885000	0.48570	1.524000	0.49035	0.655000	0.94253	CCA		0.343	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040	
COL4A4	1286	broad.mit.edu	37	2	227942664	227942664	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr2:227942664C>T	ENST00000396625.3	-	25	2140	c.1933G>A	c.(1933-1935)Gga>Aga	p.G645R	COL4A4_ENST00000329662.7_Missense_Mutation_p.G645R	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	645	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCTGGAACTCCTGGGTGGCCT	0.532																																						uc010zlt.1																			0				ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11						c.(1933-1935)GGA>AGA		alpha 4 type IV collagen precursor							25.0	28.0	27.0					2																	227942664		1815	4070	5885	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227942664C>T		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.1933G>A	2.37:g.227942664C>T	ENSP00000379866:p.Gly645Arg						p.G645R	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	25	2587	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	645			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.1933G>A	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449716	0.63290	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.99353	-5.77;-5.77	5.82	5.82	0.92795	.	.	.	.	.	D	0.99739	0.9897	H	0.99225	4.475	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.97166	0.9841	9	0.87932	D	0	.	17.8873	0.88861	0.0:1.0:0.0:0.0	.	645	P53420	CO4A4_HUMAN	R	645	ENSP00000379866:G645R;ENSP00000328553:G645R	ENSP00000328553:G645R	G	-	1	0	COL4A4	227650908	1.000000	0.71417	0.995000	0.50966	0.255000	0.26057	5.159000	0.64923	2.765000	0.95021	0.650000	0.86243	GGA		0.532	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092	
COL4A4	1286	broad.mit.edu	37	2	227942679	227942679	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr2:227942679C>T	ENST00000396625.3	-	25	2125	c.1918G>A	c.(1918-1920)Gag>Aag	p.E640K	COL4A4_ENST00000329662.7_Missense_Mutation_p.E640K	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	640	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TGGCCTCGCTCTCCTGGTGGA	0.552																																						uc010zlt.1																			0				ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11						c.(1918-1920)GAG>AAG		alpha 4 type IV collagen precursor							25.0	29.0	28.0					2																	227942679		1812	4069	5881	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227942679C>T		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.1918G>A	2.37:g.227942679C>T	ENSP00000379866:p.Glu640Lys						p.E640K	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	25	2572	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	640			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.1918G>A	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	c	6.851	0.526245	0.13066	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.93247	-3.18;-3.19	5.82	-5.13	0.02884	.	.	.	.	.	D	0.82430	0.5035	N	0.05230	-0.09	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.66172	-0.5990	9	0.13108	T	0.6	.	15.2455	0.73504	0.0:0.2164:0.6663:0.1173	.	640	P53420	CO4A4_HUMAN	K	640	ENSP00000379866:E640K;ENSP00000328553:E640K	ENSP00000328553:E640K	E	-	1	0	COL4A4	227650923	0.000000	0.05858	0.029000	0.17559	0.169000	0.22640	-1.566000	0.02148	-1.201000	0.02659	-0.833000	0.03075	GAG		0.552	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092	
COL4A4	1286	broad.mit.edu	37	2	227942699	227942699	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr2:227942699C>T	ENST00000396625.3	-	25	2105	c.1898G>A	c.(1897-1899)gGa>gAa	p.G633E	COL4A4_ENST00000329662.7_Missense_Mutation_p.G633E	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	633	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ACCAGGAAATCCCAGTCCTGG	0.602																																						uc010zlt.1																			0				ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11						c.(1897-1899)GGA>GAA		alpha 4 type IV collagen precursor							24.0	27.0	26.0					2																	227942699		1805	4071	5876	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227942699C>T		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.1898G>A	2.37:g.227942699C>T	ENSP00000379866:p.Gly633Glu						p.G633E	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	25	2552	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	633			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.1898G>A	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.540938	0.85917	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.97505	-4.41;-4.41	5.82	5.82	0.92795	.	.	.	.	.	D	0.98937	0.9639	H	0.94306	3.52	0.54753	D	0.999988	D	0.89917	1.0	D	0.97110	1.0	D	0.99478	1.0947	9	0.72032	D	0.01	.	17.8873	0.88861	0.0:1.0:0.0:0.0	.	633	P53420	CO4A4_HUMAN	E	633	ENSP00000379866:G633E;ENSP00000328553:G633E	ENSP00000328553:G633E	G	-	2	0	COL4A4	227650943	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.549000	0.53681	2.765000	0.95021	0.650000	0.86243	GGA		0.602	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092	
BPI	671	broad.mit.edu	37	20	36964027	36964027	+	Missense_Mutation	SNP	C	C	T	rs368496977		TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr20:36964027C>T	ENST00000262865.4	+	14	1465	c.1376C>T	c.(1375-1377)cCg>cTg	p.P459L	BPI_ENST00000489102.1_3'UTR	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	459					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TTCCCTCTCCCGACGCCGGCC	0.557																																						uc002xib.2																			0				ovary(4)	4						c.(1375-1377)CCG>CTG		bactericidal/permeability-increasing protein							94.0	93.0	94.0					20																	36964027		2203	4300	6503	SO:0001583	missense	671				defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	g.chr20:36964027C>T	J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"""BPI fold containing"""	1095	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 1"""	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.1376C>T	20.37:g.36964027C>T	ENSP00000262865:p.Pro459Leu						p.P459L	NM_001725	NP_001716	P17213	BPI_HUMAN			14	1438	+		Myeloproliferative disorder(115;0.00878)	459					B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Missense_Mutation	SNP	ENST00000262865.4	37	c.1376C>T	CCDS13303.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.28|18.28	3.588769|3.588769	0.66105|0.66105	.|.	.|.	ENSG00000101425|ENSG00000101425	ENST00000262865|ENST00000417318	T|.	0.30714|.	1.52|.	3.65|3.65	3.65|3.65	0.41850|0.41850	Lipid-binding serum glycoprotein, C-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);|.	0.000000|.	0.64402|.	D|.	0.000005|.	T|.	0.77678|.	0.4166|.	M|M	0.88450|0.88450	2.955|2.955	0.52501|0.52501	D|D	0.999954|0.999954	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|.	0.80681|.	-0.1274|.	10|.	0.87932|.	D|.	0|.	-27.6185|-27.6185	11.1525|11.1525	0.48466|0.48466	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	459|.	P17213|.	BPI_HUMAN|.	L|X	459|285	ENSP00000262865:P459L|.	ENSP00000262865:P459L|.	P|R	+|+	2|1	0|2	BPI|BPI	36397441|36397441	0.987000|0.987000	0.35691|0.35691	0.932000|0.932000	0.37286|0.37286	0.090000|0.090000	0.18270|0.18270	3.819000|3.819000	0.55686|0.55686	2.332000|2.332000	0.79248|0.79248	0.455000|0.455000	0.32223|0.32223	CCG|CGA		0.557	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2	NM_001725	
TTPAL	79183	broad.mit.edu	37	20	43118147	43118147	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr20:43118147C>T	ENST00000372904.3	+	6	1137	c.994C>T	c.(994-996)Cga>Tga	p.R332*	TTPAL_ENST00000372906.2_3'UTR|TTPAL_ENST00000262605.4_Nonsense_Mutation_p.R332*	NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	332						intracellular (GO:0005622)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						CGACTCCTTGCGAGCTGTGAA	0.547																																						uc002xmc.1																			0				breast(1)	1						c.(994-996)CGA>TGA		tocopherol (alpha) transfer protein-like							55.0	52.0	53.0					20																	43118147		2203	4300	6503	SO:0001587	stop_gained	79183					intracellular	transporter activity	g.chr20:43118147C>T	BC003071	CCDS13332.2	20q13.12	2008-06-23	2008-06-23	2008-06-23	ENSG00000124120	ENSG00000124120			16114	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 121"""	C20orf121			Standard	NM_024331		Approved	dJ179M20.3	uc002xmd.2	Q9BTX7	OTTHUMG00000032536	ENST00000372904.3:c.994C>T	20.37:g.43118147C>T	ENSP00000361995:p.Arg332*					TTPAL_uc002xmd.1_Nonsense_Mutation_p.R332*|TTPAL_uc010ggr.1_Nonsense_Mutation_p.R145*	p.R332*	NM_024331	NP_077307	Q9BTX7	TTPAL_HUMAN			6	1118	+			332					E1P5X3|Q5QPC1|Q9H1G2|Q9NQG8	Nonsense_Mutation	SNP	ENST00000372904.3	37	c.994C>T	CCDS13332.2	.	.	.	.	.	.	.	.	.	.	C	23.2	4.390205	0.82902	.	.	ENSG00000124120	ENST00000262605;ENST00000372904	.	.	.	6.17	4.22	0.49857	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.0198	15.8222	0.78662	0.249:0.751:0.0:0.0	.	.	.	.	X	332	.	ENSP00000262605:R332X	R	+	1	2	TTPAL	42551561	1.000000	0.71417	0.961000	0.40146	0.306000	0.27790	1.718000	0.38001	0.912000	0.36772	0.655000	0.94253	CGA		0.547	TTPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106886.2	NM_024331	
RIPK4	54101	broad.mit.edu	37	21	43162031	43162031	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr21:43162031A>T	ENST00000352483.2	-	9	1530	c.1466T>A	c.(1465-1467)cTg>cAg	p.L489Q	AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000542057.1_Missense_Mutation_p.L378Q|RIPK4_ENST00000332512.3_Missense_Mutation_p.L441Q|RIPK4_ENST00000544709.1_Missense_Mutation_p.L378Q			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	489					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CAGGTGCAGCAGGCTGGCACC	0.637																																						uc002yzn.1																			0				ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(1321-1323)CTG>CAG		ankyrin repeat domain 3							106.0	108.0	107.0					21																	43162031		2203	4300	6503	SO:0001583	missense	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43162031A>T	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.1466T>A	21.37:g.43162031A>T	ENSP00000330161:p.Leu489Gln						p.L441Q	NM_020639	NP_065690	P57078	RIPK4_HUMAN			8	1370	-			441					Q96KH0	Missense_Mutation	SNP	ENST00000352483.2	37	c.1322T>A		.	.	.	.	.	.	.	.	.	.	A	18.28	3.589411	0.66105	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057;ENST00000330470	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.02	5.02	0.67125	.	0.000000	0.52532	D	0.000077	T	0.76414	0.3984	M	0.70275	2.135	0.52099	D	0.999948	D	0.76494	0.999	D	0.68943	0.961	T	0.78570	-0.2153	10	0.54805	T	0.06	-24.6346	13.9366	0.64029	1.0:0.0:0.0:0.0	.	441	P57078-2	.	Q	441;489;378;378;180	ENSP00000332454:L441Q;ENSP00000330161:L489Q;ENSP00000441754:L378Q;ENSP00000442901:L378Q	ENSP00000330975:L180Q	L	-	2	0	RIPK4	42035100	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.307000	0.78920	1.875000	0.54330	0.533000	0.62120	CTG		0.637	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639	
LAMP3	27074	broad.mit.edu	37	3	182871533	182871533	+	Silent	SNP	G	G	A	rs140803277	byFrequency	TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr3:182871533G>A	ENST00000265598.3	-	2	951	c.696C>T	c.(694-696)aaC>aaT	p.N232N	LAMP3_ENST00000466939.1_Silent_p.N208N	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	232					cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			GTCTGCTTCCGTTTAGAACCT	0.502													A|||	3	0.000599042	0.0	0.0	5008	,	,		17458	0.001		0.0	False		,,,				2504	0.002					uc003flh.3																			0				ovary(2)|central_nervous_system(1)	3						c.(694-696)AAC>AAT		lysosomal-associated membrane protein 3							104.0	99.0	101.0					3																	182871533		2203	4300	6503	SO:0001819	synonymous_variant	27074				cell proliferation	integral to membrane|lysosomal membrane		g.chr3:182871533G>A	AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"""CD molecules"""	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.696C>T	3.37:g.182871533G>A							p.N232N	NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)		2	920	-	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		232			Lumenal (Potential).		D3DNS4|O94781|Q8NEC8	Silent	SNP	ENST00000265598.3	37	c.696C>T	CCDS3242.1																																																																																				0.502	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350863.1		
EPHB3	2049	broad.mit.edu	37	3	184295702	184295702	+	Silent	SNP	G	G	A	rs375352858		TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr3:184295702G>A	ENST00000330394.2	+	8	2108	c.1656G>A	c.(1654-1656)caG>caA	p.Q552Q	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	552					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GGGCCCAGCAGCTCCAGGAGC	0.637																																						uc003foz.2																			0				lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11						c.(1654-1656)CAG>CAA		ephrin receptor EphB3 precursor							90.0	88.0	89.0					3																	184295702		2203	4300	6503	SO:0001819	synonymous_variant	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184295702G>A	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1656G>A	3.37:g.184295702G>A							p.Q552Q	NM_004443	NP_004434	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		8	2093	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		552			Extracellular (Potential).		Q7Z740	Silent	SNP	ENST00000330394.2	37	c.1656G>A	CCDS3268.1																																																																																				0.637	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443	
C3orf70	285382	broad.mit.edu	37	3	184870498	184870498	+	Silent	SNP	G	G	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr3:184870498G>A	ENST00000335012.2	-	1	304	c.114C>T	c.(112-114)tgC>tgT	p.C38C		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	38										breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						ACAGCCCGTCGCACGGCTGGA	0.642																																						uc003fpd.2																			0					0						c.(112-114)TGC>TGT		hypothetical protein LOC285382							31.0	27.0	28.0					3																	184870498		2202	4297	6499	SO:0001819	synonymous_variant	285382							g.chr3:184870498G>A		CCDS33900.1	3q27	2008-08-08			ENSG00000187068	ENSG00000187068			33731	protein-coding gene	gene with protein product							Standard	NM_001025266		Approved		uc003fpd.3	A6NLC5	OTTHUMG00000156696	ENST00000335012.2:c.114C>T	3.37:g.184870498G>A							p.C38C	NM_001025266	NP_001020437	A6NLC5	CC070_HUMAN			1	305	-			38					B2RNY2|B9EH83	Silent	SNP	ENST00000335012.2	37	c.114C>T	CCDS33900.1																																																																																				0.642	C3orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345323.1	NM_001025266	
RPL9	6133	broad.mit.edu	37	4	39462478	39462478	+	5'Flank	SNP	C	C	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr4:39462478C>A	ENST00000449470.2	-	0	0				LIAS_ENST00000340169.2_Silent_p.L38L|LIAS_ENST00000513731.1_Silent_p.L38L|LIAS_ENST00000515061.1_3'UTR|LIAS_ENST00000261434.3_Silent_p.L38L|LIAS_ENST00000381846.1_Silent_p.L38L|RPL9_ENST00000295955.9_5'Flank	NM_001024921.2	NP_001020092.1	P32969	RL9_HUMAN	ribosomal protein L9						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)	RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|skin(1)	8						AAAAGGAACTCCTACAGAATG	0.398																																						uc003guf.2																			0					0						c.(112-114)CTC>CTA		lipoic acid synthetase isoform 1 precursor	Lipoic Acid(DB00166)						104.0	115.0	111.0					4																	39462478		2203	4300	6503	SO:0001631	upstream_gene_variant	11019				inflammatory response|response to lipopolysaccharide|response to oxidative stress	mitochondrion	4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding	g.chr4:39462478C>A	D14531	CCDS3452.1	4p13	2011-04-06			ENSG00000163682	ENSG00000163682		"""L ribosomal proteins"""	10369	protein-coding gene	gene with protein product		603686				8597601, 8415001	Standard	XM_005262661		Approved	L9	uc021sso.1	P32969	OTTHUMG00000099367		4.37:g.39462478C>A	Exception_encountered					RPL9_uc003gub.2_5'Flank|RPL9_uc003guc.2_5'Flank|RPL9_uc011byk.1_5'Flank|RPL9_uc011byl.1_5'Flank|RPL9_uc003gud.1_5'Flank|LIAS_uc003gue.3_Silent_p.L38L|LIAS_uc011bym.1_Silent_p.L38L|LIAS_uc003gug.2_Silent_p.L38L|LIAS_uc003guh.2_Silent_p.L38L	p.L38L	NM_006859	NP_006850	O43766	LIAS_HUMAN			2	187	+			38						Silent	SNP	ENST00000449470.2	37	c.114C>A	CCDS3452.1																																																																																				0.398	RPL9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361018.1		
FBN2	2201	broad.mit.edu	37	5	127674667	127674667	+	Nonsense_Mutation	SNP	C	C	A	rs200060005		TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr5:127674667C>A	ENST00000508053.1	-	32	4404	c.3430G>T	c.(3430-3432)Gaa>Taa	p.E1144*	FBN2_ENST00000262464.4_Nonsense_Mutation_p.E1144*|FBN2_ENST00000508989.1_Nonsense_Mutation_p.E1111*|FBN2_ENST00000507835.1_5'UTR			P35556	FBN2_HUMAN	fibrillin 2	1144	EGF-like 16; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.E1144K(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCATAGCCTTCGAAGCACTCG	0.507																																						uc003kuu.2																			1	Substitution - Missense(1)		large_intestine(1)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(3430-3432)GAA>TAA		fibrillin 2 precursor							106.0	85.0	92.0					5																	127674667		2203	4300	6503	SO:0001587	stop_gained	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127674667C>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.3430G>T	5.37:g.127674667C>A	ENSP00000424571:p.Glu1144*					FBN2_uc003kuv.2_Nonsense_Mutation_p.E1111*	p.E1144*	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	26	3869	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1144			EGF-like 16; calcium-binding.		B4DU01|Q59ES6	Nonsense_Mutation	SNP	ENST00000508053.1	37	c.3430G>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	47	13.593659	0.99751	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	.	.	.	5.13	4.25	0.50352	.	0.496860	0.21340	N	0.076149	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	16.2378	0.82389	0.0:0.8672:0.1328:0.0	.	.	.	.	X	1144;1144;1111	.	ENSP00000262464:E1144X	E	-	1	0	FBN2	127702566	0.989000	0.36119	1.000000	0.80357	0.972000	0.66771	2.420000	0.44679	1.491000	0.48482	0.585000	0.79938	GAA		0.507	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	
ADAMTS19	171019	broad.mit.edu	37	5	128862027	128862027	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr5:128862027C>T	ENST00000274487.4	+	4	1091	c.946C>T	c.(946-948)Cga>Tga	p.R316*	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	316						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AAGAGGGAAACGATATTCATA	0.398																																						uc003kvb.1																			0				ovary(5)|breast(2)|lung(1)|skin(1)	9						c.(946-948)CGA>TGA		ADAM metallopeptidase with thrombospondin type 1							90.0	83.0	85.0					5																	128862027		2203	4300	6503	SO:0001587	stop_gained	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128862027C>T	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.946C>T	5.37:g.128862027C>T	ENSP00000274487:p.Arg316*					ADAMTS19_uc003kvc.1_RNA	p.R316*	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	4	946	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	316						Nonsense_Mutation	SNP	ENST00000274487.4	37	c.946C>T	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.284383	0.59867	.	.	ENSG00000145808	ENST00000274487	.	.	.	4.45	4.45	0.53987	.	0.000000	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3153	0.54953	0.2793:0.7207:0.0:0.0	.	.	.	.	X	316	.	.	R	+	1	2	ADAMTS19	128889926	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	2.238000	0.43070	2.765000	0.95021	0.557000	0.71058	CGA		0.398	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638	
PCDHA5	56143	broad.mit.edu	37	5	140203028	140203028	+	Silent	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr5:140203028C>T	ENST00000529859.1	+	1	1668	c.1668C>T	c.(1666-1668)gaC>gaT	p.D556D	PCDHA5_ENST00000529619.1_Silent_p.D556D|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000378126.3_Silent_p.D556D|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	556	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTGCTGGACGAGAACGACA	0.706																																						uc003lhl.2																			0				ovary(1)|breast(1)|skin(1)	3						c.(1666-1668)GAC>GAT		protocadherin alpha 5 isoform 1 precursor							55.0	60.0	58.0					5																	140203028		2202	4298	6500	SO:0001819	synonymous_variant	56143				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140203028C>T	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1668C>T	5.37:g.140203028C>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Silent_p.D556D|PCDHA5_uc003lhj.1_Silent_p.D556D	p.D556D	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1668	+			556			Extracellular (Potential).|Cadherin 5.		O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	c.1668C>T	CCDS54917.1																																																																																				0.706	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908	
PCDHB5	26167	broad.mit.edu	37	5	140515027	140515027	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr5:140515027C>T	ENST00000231134.5	+	1	228	c.11C>T	c.(10-12)gCg>gTg	p.A4V		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	4					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGGAGACTGCGCTAGCAAAA	0.458																																						uc003liq.2																			0				skin(3)|ovary(2)	5						c.(10-12)GCG>GTG		protocadherin beta 5 precursor							88.0	78.0	81.0					5																	140515027		2203	4300	6503	SO:0001583	missense	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140515027C>T	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.11C>T	5.37:g.140515027C>T	ENSP00000231134:p.Ala4Val						p.A4V	NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	228	+			4					Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.11C>T	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753099	0.69648	.	.	ENSG00000113209	ENST00000231134	T	0.51071	0.72	5.38	4.46	0.54185	.	.	.	.	.	T	0.45418	0.1341	L	0.57536	1.79	0.09310	N	1	B	0.16166	0.016	B	0.14578	0.011	T	0.22556	-1.0213	9	0.30078	T	0.28	.	14.0354	0.64642	0.212:0.788:0.0:0.0	.	4	Q9Y5E4	PCDB5_HUMAN	V	4	ENSP00000231134:A4V	ENSP00000231134:A4V	A	+	2	0	PCDHB5	140495211	0.000000	0.05858	0.557000	0.28306	0.970000	0.65996	0.631000	0.24568	2.687000	0.91594	0.561000	0.74099	GCG		0.458	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669	
DDX41	51428	broad.mit.edu	37	5	176941751	176941751	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr5:176941751G>C	ENST00000507955.1	-	9	1409	c.886C>G	c.(886-888)Ctc>Gtc	p.L296V	DDX41_ENST00000506965.1_5'Flank	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	296	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CCAATGCAGAGGGCGCAGCGC	0.662																																						uc003mho.2																			0					0						c.(886-888)CTC>GTC		DEAD-box protein abstrakt							80.0	86.0	84.0					5																	176941751		2202	4298	6500	SO:0001583	missense	51428				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding	g.chr5:176941751G>C	AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"""DEAD-boxes"""	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.886C>G	5.37:g.176941751G>C	ENSP00000422753:p.Leu296Val					DDX41_uc003mhm.2_Missense_Mutation_p.L76V|DDX41_uc003mhn.2_Missense_Mutation_p.L165V|DDX41_uc003mhp.2_Missense_Mutation_p.L165V|DDX41_uc003mhq.1_Missense_Mutation_p.L76V	p.L296V	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		9	907	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	296			Helicase ATP-binding.		B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Missense_Mutation	SNP	ENST00000507955.1	37	c.886C>G	CCDS4427.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.534857	0.85812	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	T;T	0.17528	2.27;2.27	5.74	4.87	0.63330	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.137962	0.49916	D	0.000124	T	0.27278	0.0669	L	0.31526	0.94	0.80722	D	1	P;D	0.60575	0.932;0.988	P;D	0.63877	0.768;0.919	T	0.01715	-1.1289	10	0.36615	T	0.2	-30.1399	14.4934	0.67667	0.07:0.0:0.9299:0.0	.	170;296	B3KRK2;Q9UJV9	.;DDX41_HUMAN	V	314;296	ENSP00000330349:L314V;ENSP00000422753:L296V	ENSP00000330349:L314V	L	-	1	0	DDX41	176874357	1.000000	0.71417	0.731000	0.30826	0.975000	0.68041	9.297000	0.96120	1.426000	0.47256	0.655000	0.94253	CTC		0.662	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253432.2	NM_016222	
MAML1	9794	broad.mit.edu	37	5	179201198	179201198	+	Missense_Mutation	SNP	A	A	C			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr5:179201198A>C	ENST00000292599.3	+	5	2634	c.2371A>C	c.(2371-2373)Acc>Ccc	p.T791P	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGCCAGAACACCTCCGTCTC	0.592																																						uc003mkm.2																			0				lung(4)|ovary(2)	6						c.(2371-2373)ACC>CCC		mastermind-like 1							39.0	40.0	40.0					5																	179201198		2203	4300	6503	SO:0001583	missense	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179201198A>C	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.2371A>C	5.37:g.179201198A>C	ENSP00000292599:p.Thr791Pro					MAML1_uc003mkn.1_Intron	p.T791P	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	2634	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	791						Missense_Mutation	SNP	ENST00000292599.3	37	c.2371A>C	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	A	8.291	0.817724	0.16607	.	.	ENSG00000161021	ENST00000292599	T	0.22743	1.94	4.94	-0.779	0.10973	.	0.860663	0.10447	N	0.673497	T	0.13670	0.0331	L	0.36672	1.1	0.09310	N	1	B	0.33000	0.393	B	0.23018	0.043	T	0.17715	-1.0360	10	0.30078	T	0.28	-7.179	10.4061	0.44258	0.5206:0.0:0.4794:0.0	.	791	Q92585	MAML1_HUMAN	P	791	ENSP00000292599:T791P	ENSP00000292599:T791P	T	+	1	0	MAML1	179133804	0.000000	0.05858	0.079000	0.20413	0.864000	0.49448	0.480000	0.22244	-0.135000	0.11495	-0.546000	0.04227	ACC		0.592	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757	
GTF3C6	112495	broad.mit.edu	37	6	111288823	111288823	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr6:111288823G>T	ENST00000329970.7	+	6	682	c.472G>T	c.(472-474)Gat>Tat	p.D158Y	GTF3C6_ENST00000480191.1_3'UTR|AL357515.1_ENST00000583422.1_RNA	NM_138408.3	NP_612417.1	Q969F1	TF3C6_HUMAN	general transcription factor IIIC, polypeptide 6, alpha 35kDa	158					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			NS(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575)		OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186)		TTCAGCCCCAGATAAATCTTT	0.383																																						uc003pum.2																			0					0						c.(472-474)GAT>TAT		general transcription factor IIIC, polypeptide							103.0	108.0	107.0					6																	111288823		2203	4300	6503	SO:0001583	missense	112495					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr6:111288823G>T	AK057977	CCDS5087.1	6q21	2010-03-23	2007-07-26	2007-07-26	ENSG00000155115	ENSG00000155115		"""General transcription factors"""	20872	protein-coding gene	gene with protein product		611784	"""chromosome 6 open reading frame 51"""	C6orf51		17409385	Standard	NM_138408		Approved	bA397G5.3, TFIIIC35	uc003pum.3	Q969F1	OTTHUMG00000015370	ENST00000329970.7:c.472G>T	6.37:g.111288823G>T	ENSP00000357863:p.Asp158Tyr						p.D158Y	NM_138408	NP_612417	Q969F1	TF3C6_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186)	6	682	+		all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575)	158					Q5VXN2	Missense_Mutation	SNP	ENST00000329970.7	37	c.472G>T	CCDS5087.1	.	.	.	.	.	.	.	.	.	.	g	16.62	3.172673	0.57584	.	.	ENSG00000155115	ENST00000329970	.	.	.	5.15	3.37	0.38596	.	0.265062	0.35838	N	0.002944	T	0.61110	0.2321	M	0.75447	2.3	0.37406	D	0.913054	D	0.71674	0.998	P	0.60173	0.87	T	0.67730	-0.5595	9	0.87932	D	0	-32.6669	11.0977	0.48155	0.1523:0.0:0.8477:0.0	.	158	Q969F1	TF3C6_HUMAN	Y	158	.	ENSP00000357863:D158Y	D	+	1	0	GTF3C6	111395516	0.992000	0.36948	0.688000	0.30117	0.670000	0.39368	2.584000	0.46102	0.692000	0.31613	0.491000	0.48974	GAT		0.383	GTF3C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041820.1	NM_138408	
NMBR	4829	broad.mit.edu	37	6	142409496	142409496	+	Silent	SNP	G	G	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr6:142409496G>A	ENST00000258042.1	-	1	440	c.300C>T	c.(298-300)gaC>gaT	p.D100D	RP11-137J7.2_ENST00000454401.1_RNA	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	100					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		AGCGCGAGGCGTCCACCGGGA	0.592																																						uc003qiu.2																			0				central_nervous_system(3)|breast(1)	4						c.(298-300)GAC>GAT		neuromedin B receptor							74.0	63.0	67.0					6																	142409496		2203	4300	6503	SO:0001819	synonymous_variant	4829				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity	g.chr6:142409496G>A		CCDS5196.1	6q24.1	2014-02-21			ENSG00000135577	ENSG00000135577		"""GPCR / Class A : Bombesin receptors"""	7843	protein-coding gene	gene with protein product	"""bombesin receptor 1"""	162341					Standard	NM_002511		Approved	BB1	uc003qiu.3	P28336	OTTHUMG00000015704	ENST00000258042.1:c.300C>T	6.37:g.142409496G>A							p.D100D	NM_002511	NP_002502	P28336	NMBR_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)	1	441	-	Breast(32;0.155)		100			Extracellular (Potential).		E9KL38|Q5VUK8	Silent	SNP	ENST00000258042.1	37	c.300C>T	CCDS5196.1																																																																																				0.592	NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042479.1		
HECW1	23072	broad.mit.edu	37	7	43351508	43351508	+	Silent	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr7:43351508C>T	ENST00000395891.2	+	4	779	c.174C>T	c.(172-174)caC>caT	p.H58H	HECW1_ENST00000453890.1_Silent_p.H58H	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	58					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCGGCCCCCACGATGGCGTCA	0.632																																						uc003tid.1																			0				ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(172-174)CAC>CAT		NEDD4-like ubiquitin-protein ligase 1							47.0	57.0	53.0					7																	43351508		2066	4187	6253	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43351508C>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.174C>T	7.37:g.43351508C>T						HECW1_uc011kbi.1_Silent_p.H58H|HECW1_uc003tie.1_Silent_p.H90H	p.H58H	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			4	779	+			58					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.174C>T	CCDS5469.2																																																																																				0.632	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052	
EGFR	1956	broad.mit.edu	37	7	55223543	55223543	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr7:55223543C>T	ENST00000275493.2	+	8	1087	c.910C>T	c.(910-912)Cac>Tac	p.H304Y	EGFR_ENST00000420316.2_Missense_Mutation_p.H304Y|EGFR_ENST00000342916.3_Missense_Mutation_p.H304Y|EGFR_ENST00000454757.2_Missense_Mutation_p.H251Y|EGFR_ENST00000442591.1_Missense_Mutation_p.H304Y|EGFR_ENST00000455089.1_Missense_Mutation_p.H259Y|EGFR_ENST00000344576.2_Missense_Mutation_p.H304Y	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	304					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GGTGACAGATCACGGCTCGTG	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		0				lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(910-912)CAC>TAC		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						66.0	61.0	62.0					7																	55223543		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55223543C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.910C>T	7.37:g.55223543C>T	ENSP00000275493:p.His304Tyr	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.2_Missense_Mutation_p.H304Y|EGFR_uc003tqi.2_Missense_Mutation_p.H304Y|EGFR_uc003tqj.2_Missense_Mutation_p.H304Y|EGFR_uc010kzg.1_Missense_Mutation_p.H259Y|EGFR_uc011kco.1_Missense_Mutation_p.H251Y|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.H304Y	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		8	1156	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		304			Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.910C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	8.221	0.802534	0.16397	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	5.64	5.64	0.86602	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.61924	0.2386	M	0.82923	2.615	0.80722	D	1	B;B;B;B;B	0.33288	0.003;0.001;0.406;0.065;0.047	B;B;B;B;B	0.30316	0.005;0.01;0.114;0.024;0.056	T	0.64279	-0.6445	10	0.02654	T	1	.	18.2675	0.90056	0.0:1.0:0.0:0.0	.	259;304;304;304;304	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	Y	259;304;174;304;304;304;304;251;98	ENSP00000415559:H259Y;ENSP00000342376:H304Y;ENSP00000345973:H304Y;ENSP00000413843:H304Y;ENSP00000275493:H304Y;ENSP00000410031:H304Y;ENSP00000395243:H251Y	ENSP00000275493:H304Y	H	+	1	0	EGFR	55191037	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	3.344000	0.52174	2.655000	0.90218	0.655000	0.94253	CAC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
FZD9	8326	broad.mit.edu	37	7	72849307	72849307	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr7:72849307G>A	ENST00000344575.3	+	1	1199	c.970G>A	c.(970-972)Ggc>Agc	p.G324S		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	324					B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTACTACTTCGGCATGGCCAG	0.657																																					Pancreas(144;909 1878 36867 38226 39554)	uc003tyb.2																			0				central_nervous_system(1)	1						c.(970-972)GGC>AGC		frizzled 9 precursor							92.0	83.0	86.0					7																	72849307		2203	4300	6503	SO:0001583	missense	8326				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr7:72849307G>A	U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4047	protein-coding gene	gene with protein product		601766	"""frizzled (Drosophila) homolog 9"", ""frizzled homolog 9 (Drosophila)"", ""frizzled 9, seven transmembrane spanning receptor"", ""frizzled family receptor 9"""			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.970G>A	7.37:g.72849307G>A	ENSP00000345785:p.Gly324Ser						p.G324S	NM_003508	NP_003499	O00144	FZD9_HUMAN			1	1199	+		Lung NSC(55;0.0659)|all_lung(88;0.152)	324			Helical; Name=3; (Potential).			Missense_Mutation	SNP	ENST00000344575.3	37	c.970G>A	CCDS5548.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.317040	0.60524	.	.	ENSG00000188763	ENST00000344575	T	0.70749	-0.51	4.17	3.28	0.37604	GPCR, family 2-like (1);	0.000000	0.85682	U	0.000000	T	0.78666	0.4319	L	0.54908	1.71	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.77568	-0.2539	10	0.49607	T	0.09	.	11.1489	0.48447	0.0924:0.0:0.9076:0.0	.	324	O00144	FZD9_HUMAN	S	324	ENSP00000345785:G324S	ENSP00000345785:G324S	G	+	1	0	FZD9	72487243	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.977000	0.88081	0.866000	0.35629	0.467000	0.42956	GGC		0.657	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252120.1		
SEMA3E	9723	broad.mit.edu	37	7	82997104	82997104	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr7:82997104C>A	ENST00000307792.3	-	17	2593	c.2126G>T	c.(2125-2127)tGg>tTg	p.W709L	SEMA3E_ENST00000427262.1_Missense_Mutation_p.W649L	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	709					axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TTCCTTGTACCATGGTTTTGC	0.463																																						uc003uhy.1																			0				ovary(3)	3						c.(2125-2127)TGG>TTG		semaphorin 3E precursor							148.0	134.0	139.0					7																	82997104		2203	4300	6503	SO:0001583	missense	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:82997104C>A	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.2126G>T	7.37:g.82997104C>A	ENSP00000303212:p.Trp709Leu						p.W709L	NM_012431	NP_036563	O15041	SEM3E_HUMAN			17	2592	-		Medulloblastoma(109;0.109)	709					B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	c.2126G>T	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	C	31	5.099865	0.94197	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	T;T	0.75821	-0.97;-0.97	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.84964	0.5589	M	0.72894	2.215	0.80722	D	1	P	0.52316	0.952	P	0.60682	0.878	D	0.84408	0.0564	10	0.51188	T	0.08	.	19.9343	0.97131	0.0:1.0:0.0:0.0	.	709	O15041	SEM3E_HUMAN	L	709;649;709	ENSP00000303212:W709L;ENSP00000405052:W649L	ENSP00000303212:W709L	W	-	2	0	SEMA3E	82835040	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	7.228000	0.78079	2.719000	0.93026	0.585000	0.79938	TGG		0.463	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431	
CYP3A5	1577	broad.mit.edu	37	7	99261679	99261679	+	Missense_Mutation	SNP	T	T	G			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr7:99261679T>G	ENST00000222982.4	-	8	809	c.710A>C	c.(709-711)aAt>aCt	p.N237T	CYP3A5_ENST00000480723.1_5'Flank|CYP3A5_ENST00000343703.5_Missense_Mutation_p.N227T|CYP3A5_ENST00000339843.2_3'UTR	NM_000777.3	NP_000768.1	P20815	CP3A5_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 5	237					alkaloid catabolic process (GO:0009822)|drug catabolic process (GO:0042737)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)				ado-trastuzumab emtansine(DB05773)|Alfentanil(DB00802)|Alprazolam(DB00404)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Artemether(DB06697)|Astemizole(DB00637)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Beclomethasone(DB00394)|Boceprevir(DB08873)|Brentuximab vedotin(DB08870)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clonidine(DB00575)|Clopidogrel(DB00758)|Cocaine(DB00907)|Codeine(DB00318)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diltiazem(DB00343)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Dutasteride(DB01126)|Enzalutamide(DB08899)|Eplerenone(DB00700)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Ethosuximide(DB00593)|Etoposide(DB00773)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gestodene(DB06730)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Losartan(DB00678)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Modafinil(DB00745)|Mycophenolate mofetil(DB00688)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Pentamidine(DB00738)|Perampanel(DB08883)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rosuvastatin(DB01098)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Teniposide(DB00444)|Testosterone(DB00624)|Thalidomide(DB01041)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vardenafil(DB00862)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	CAGAGAGACATTTAATGCTTC	0.328																																						uc003urq.2																			0					0						c.(709-711)AAT>ACT		cytochrome P450, family 3, subfamily A,	Alfentanil(DB00802)|Clopidogrel(DB00758)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Indinavir(DB00224)|Irinotecan(DB00762)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Mephenytoin(DB00532)|Midazolam(DB00683)|Mifepristone(DB00834)|Phenytoin(DB00252)|Quinine(DB00468)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Troleandomycin(DB01361)|Verapamil(DB00661)|Vincristine(DB00541)						87.0	85.0	85.0					7																	99261679		2203	4299	6502	SO:0001583	missense	1577				alkaloid catabolic process|drug catabolic process|oxidative demethylation|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr7:99261679T>G	L26985	CCDS5672.1, CCDS55134.1	7q21.1	2007-12-14	2003-01-14		ENSG00000106258	ENSG00000106258		"""Cytochrome P450s"""	2638	protein-coding gene	gene with protein product		605325	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 5"""				Standard	NR_033808		Approved	PCN3, P450PCN3, CP35		P20815	OTTHUMG00000156724	ENST00000222982.4:c.710A>C	7.37:g.99261679T>G	ENSP00000222982:p.Asn237Thr					ZNF498_uc003urn.2_Intron|CYP3A5_uc003urp.2_Missense_Mutation_p.N57T|CYP3A5_uc003urr.2_Missense_Mutation_p.N124T|CYP3A5_uc011kiy.1_Missense_Mutation_p.N227T|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron	p.N237T	NM_000777	NP_000768	P20815	CP3A5_HUMAN			8	797	-	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)		237					A4D289|B7Z5I7|Q53WY8|Q75MV0|Q9HB56	Missense_Mutation	SNP	ENST00000222982.4	37	c.710A>C	CCDS5672.1	.	.	.	.	.	.	.	.	.	.	T	13.60	2.285089	0.40394	.	.	ENSG00000106258	ENST00000222982;ENST00000343703	T;T	0.68903	-0.36;-0.36	4.61	0.768	0.18487	.	0.386435	0.30989	N	0.008466	T	0.72252	0.3437	M	0.82823	2.61	0.09310	N	1	P;P	0.44478	0.803;0.836	B;P	0.50934	0.418;0.654	T	0.65307	-0.6200	10	0.72032	D	0.01	.	7.2479	0.26131	0.0:0.31:0.0:0.69	.	227;237	F5H4S0;P20815	.;CP3A5_HUMAN	T	237;227	ENSP00000222982:N237T;ENSP00000342969:N227T	ENSP00000222982:N237T	N	-	2	0	CYP3A5	99099615	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.196000	0.17176	-0.118000	0.11851	-0.408000	0.06270	AAT		0.328	CYP3A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345469.1		
ASZ1	136991	broad.mit.edu	37	7	117067470	117067470	+	Silent	SNP	G	G	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr7:117067470G>A	ENST00000284629.2	-	1	107	c.45C>T	c.(43-45)ggC>ggT	p.G15G		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			CGCTACTCTCGCCTCCGCCAG	0.662											OREG0003439	type=REGULATORY REGION|Gene=ASZ1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc003vjb.2																			0				central_nervous_system(2)|ovary(1)	3						c.(43-45)GGC>GGT		ankyrin repeat, SAM and basic leucine zipper							54.0	51.0	52.0					7																	117067470		2203	4300	6503	SO:0001819	synonymous_variant	136991				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity	g.chr7:117067470G>A	AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	1350	protein-coding gene	gene with protein product		605797	"""ankyrin-like 1"""	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.45C>T	7.37:g.117067470G>A			OREG0003439	type=REGULATORY REGION|Gene=ASZ1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1478	ASZ1_uc011kno.1_Silent_p.G15G|ASZ1_uc011knp.1_5'UTR	p.G15G	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)		1	108	-	Lung NSC(10;0.00156)|all_lung(10;0.00175)		15						Silent	SNP	ENST00000284629.2	37	c.45C>T	CCDS5772.1																																																																																				0.662	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000138907.7	NM_130768	
CHPF2	54480	broad.mit.edu	37	7	150934492	150934492	+	Silent	SNP	C	C	G	rs200159004		TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr7:150934492C>G	ENST00000035307.2	+	4	2557	c.1044C>G	c.(1042-1044)ccC>ccG	p.P348P	MIR671_ENST00000390183.1_RNA|CHPF2_ENST00000495645.1_Silent_p.P340P|RP4-548D19.3_ENST00000607902.1_RNA	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	348					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						TGCTGACCCCCGAAGGGGAGG	0.627																																						uc003wjr.1																			0				ovary(1)	1						c.(1042-1044)CCC>CCG		chondroitin polymerizing factor 2							50.0	51.0	51.0					7																	150934492		2203	4300	6503	SO:0001819	synonymous_variant	54480					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr7:150934492C>G	AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.1044C>G	7.37:g.150934492C>G						CHPF2_uc003wjq.1_Silent_p.P340P|MIR671_hsa-mir-671|MI0003760_5'Flank	p.P348P	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN			4	2557	+			348			Lumenal (Potential).		B2DBD8|Q6P2I4|Q6UXD2	Silent	SNP	ENST00000035307.2	37	c.1044C>G	CCDS34779.1																																																																																				0.627	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348648.2	NM_019015	
RP1L1	94137	broad.mit.edu	37	8	10469501	10469501	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr8:10469501G>A	ENST00000382483.3	-	4	2330	c.2107C>T	c.(2107-2109)Cga>Tga	p.R703*		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	703					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCAGAATATCGTGGCACTGAG	0.617																																						uc003wtc.2																			0				ovary(4)|breast(3)|central_nervous_system(1)	8						c.(2107-2109)CGA>TGA		retinitis pigmentosa 1-like 1							50.0	60.0	57.0					8																	10469501		2113	4219	6332	SO:0001587	stop_gained	94137				intracellular signal transduction			g.chr8:10469501G>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.2107C>T	8.37:g.10469501G>A	ENSP00000371923:p.Arg703*						p.R703*	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	2336	-			703					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Nonsense_Mutation	SNP	ENST00000382483.3	37	c.2107C>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	37	6.599976	0.97697	.	.	ENSG00000183638	ENST00000382483	.	.	.	5.14	-4.57	0.03421	.	2.498500	0.01893	N	0.038681	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	1.986	4.4022	0.11392	0.0798:0.4034:0.1537:0.3631	.	.	.	.	X	703	.	ENSP00000371923:R703X	R	-	1	2	RP1L1	10506911	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.285000	0.08410	-0.666000	0.05310	0.462000	0.41574	CGA		0.617	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1		
BLK	640	broad.mit.edu	37	8	11406564	11406564	+	Missense_Mutation	SNP	G	G	A	rs371256341		TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr8:11406564G>A	ENST00000259089.4	+	5	893	c.301G>A	c.(301-303)Gtc>Atc	p.V101I	BLK_ENST00000529894.1_Missense_Mutation_p.V30I	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	BLK proto-oncogene, Src family tyrosine kinase	101	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				B cell receptor signaling pathway (GO:0050853)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of insulin secretion (GO:0032024)	plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.V101I(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CAGGTCACTCGTCACAGGAAG	0.592																																						uc003wty.2																			1	Substitution - Missense(1)		large_intestine(1)	large_intestine(1)|stomach(1)|ovary(1)	3						c.(301-303)GTC>ATC		B lymphoid tyrosine kinase		G	ILE/VAL	0,4406		0,0,2203	97.0	76.0	83.0		301	-5.6	0.0	8		83	1,8599		0,1,4299	no	missense	BLK	NM_001715.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	101/506	11406564	1,13005	2203	4300	6503	SO:0001583	missense	640				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:11406564G>A	BC004473	CCDS5982.1	8p23-p22	2014-06-25	2014-06-25		ENSG00000136573	ENSG00000136573		"""SH2 domain containing"""	1057	protein-coding gene	gene with protein product		191305	"""B lymphoid tyrosine kinase"""			7845672	Standard	NM_001715		Approved	MGC10442	uc003wty.3	P51451	OTTHUMG00000090729	ENST00000259089.4:c.301G>A	8.37:g.11406564G>A	ENSP00000259089:p.Val101Ile					BLK_uc003wtz.2_Missense_Mutation_p.V30I	p.V101I	NM_001715	NP_001706	P51451	BLK_HUMAN	STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)	5	882	+			101			SH3.		Q16291|Q96IN1	Missense_Mutation	SNP	ENST00000259089.4	37	c.301G>A	CCDS5982.1	.	.	.	.	.	.	.	.	.	.	G	6.790	0.514753	0.12944	0.0	1.16E-4	ENSG00000136573	ENST00000259089;ENST00000427279;ENST00000529894	T;T	0.49432	0.98;0.78	5.1	-5.55	0.02536	Src homology-3 domain (3);	0.955879	0.08518	N	0.933908	T	0.32556	0.0833	L	0.31526	0.94	0.09310	N	0.999999	B	0.09022	0.002	B	0.10450	0.005	T	0.24154	-1.0168	10	0.40728	T	0.16	.	11.6223	0.51126	0.6951:0.0919:0.213:0.0	.	101	P51451	BLK_HUMAN	I	101;101;30	ENSP00000259089:V101I;ENSP00000433663:V30I	ENSP00000259089:V101I	V	+	1	0	BLK	11443973	0.000000	0.05858	0.046000	0.18839	0.281000	0.26958	-0.611000	0.05622	-1.350000	0.02199	0.462000	0.41574	GTC		0.592	BLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207460.1		
SPATC1	375686	broad.mit.edu	37	8	145095802	145095802	+	Missense_Mutation	SNP	G	G	A	rs372423052		TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr8:145095802G>A	ENST00000377470.3	+	3	1202	c.1100G>A	c.(1099-1101)cGa>cAa	p.R367Q	SPATC1_ENST00000447830.2_Missense_Mutation_p.R367Q	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	367						centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCCCTTCCCGAATGCATAAT	0.642																																						uc011lkw.1																			0				ovary(1)|central_nervous_system(1)	2						c.(1099-1101)CGA>CAA		spermatogenesis and centriole associated 1		G	GLN/ARG,GLN/ARG	1,4399		0,1,2199	185.0	69.0	109.0		1100,1100	1.5	0.0	8		109	0,8590		0,0,4295	no	missense,missense	SPATC1	NM_001134374.1,NM_198572.2	43,43	0,1,6494	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	367/442,367/592	145095802	1,12989	2200	4295	6495	SO:0001583	missense	375686							g.chr8:145095802G>A	BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.1100G>A	8.37:g.145095802G>A	ENSP00000366690:p.Arg367Gln					SPATC1_uc011lkx.1_Missense_Mutation_p.R367Q	p.R367Q	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		3	1202	+	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		367					B4DWW9|Q5U5I8|Q7Z6L7	Missense_Mutation	SNP	ENST00000377470.3	37	c.1100G>A	CCDS6413.2	.	.	.	.	.	.	.	.	.	.	G	14.67	2.605305	0.46423	2.27E-4	0.0	ENSG00000186583	ENST00000377470;ENST00000447830	T	0.49432	0.78	2.58	1.54	0.23209	.	0.284376	0.19156	N	0.121330	T	0.55369	0.1916	M	0.63428	1.95	0.09310	N	1	D;D	0.89917	1.0;0.999	D;P	0.79108	0.992;0.792	T	0.44967	-0.9293	10	0.13853	T	0.58	.	6.5255	0.22299	0.0:0.3061:0.6939:0.0	.	367;367	B4DWW9;Q76KD6	.;SPERI_HUMAN	Q	367	ENSP00000366690:R367Q	ENSP00000366690:R367Q	R	+	2	0	SPATC1	145167790	0.000000	0.05858	0.002000	0.10522	0.026000	0.11368	0.032000	0.13732	1.450000	0.47717	0.462000	0.41574	CGA		0.642	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346926.1	NM_198572	
PIP5KL1	138429	broad.mit.edu	37	9	130689473	130689473	+	Silent	SNP	G	G	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr9:130689473G>A	ENST00000388747.4	-	7	653	c.609C>T	c.(607-609)gtC>gtT	p.V203V	PIP5KL1_ENST00000490773.1_5'UTR|PIP5KL1_ENST00000300432.3_5'UTR	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	203	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						CGCTCTGCATGACGATGAAGT	0.697																																						uc011mao.1																			0				lung(1)|kidney(1)	2						c.(607-609)GTC>GTT		phosphatidylinositol-4-phosphate 5-kinase-like 1							30.0	30.0	30.0					9																	130689473		2203	4300	6503	SO:0001819	synonymous_variant	138429					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	g.chr9:130689473G>A	BC042184	CCDS6885.1, CCDS48030.1	9q34.13	2008-02-05			ENSG00000167103	ENSG00000167103			28711	protein-coding gene	gene with protein product		612865				12477932	Standard	NM_001135219		Approved	bA203J24.5, MGC46424	uc011mao.2	Q5T9C9	OTTHUMG00000020719	ENST00000388747.4:c.609C>T	9.37:g.130689473G>A						PIP5KL1_uc004bsu.2_5'UTR	p.V203V	NM_001135219	NP_001128691	Q5T9C9	PI5L1_HUMAN			7	654	-			203			PIPK.		Q8IVS3	Silent	SNP	ENST00000388747.4	37	c.609C>T	CCDS48030.1																																																																																				0.697	PIP5KL1-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054289.2	NM_173492	
MAGEC3	139081	broad.mit.edu	37	X	140983301	140983301	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chrX:140983301G>A	ENST00000298296.1	+	6	1079	c.1079G>A	c.(1078-1080)cGc>cAc	p.R360H	MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000483584.1_Intron|MAGEC3_ENST00000544766.1_Intron|MAGEC3_ENST00000448920.1_3'UTR|MAGEC3_ENST00000409007.1_5'Flank	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	360	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GAAGATGGCCGCCGAGGGCTG	0.607																																						uc011mwp.1																			0				skin(2)|central_nervous_system(1)	3						c.(1078-1080)CGC>CAC		melanoma antigen family C, 3 isoform 1							33.0	35.0	35.0					X																	140983301		2201	4297	6498	SO:0001583	missense	139081							g.chrX:140983301G>A	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1079G>A	X.37:g.140983301G>A	ENSP00000298296:p.Arg360His					MAGEC3_uc004fbs.2_Intron|MAGEC3_uc010nsj.2_5'Flank	p.R360H	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN			6	1079	+	Acute lymphoblastic leukemia(192;6.56e-05)		360			MAGE 1.		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	c.1079G>A	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	g	1.519	-0.547521	0.04024	.	.	ENSG00000165509	ENST00000298296	T	0.03496	3.91	0.614	-1.23	0.09465	.	.	.	.	.	T	0.01940	0.0061	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48843	-0.8999	8	0.15066	T	0.55	.	.	.	.	.	360	Q8TD91	MAGC3_HUMAN	H	360	ENSP00000298296:R360H	ENSP00000298296:R360H	R	+	2	0	MAGEC3	140810967	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.299000	0.02754	-1.481000	0.01863	-1.508000	0.00951	CGC		0.607	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702	
ARHGAP4	393	broad.mit.edu	37	X	153175809	153175809	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chrX:153175809C>T	ENST00000350060.5	-	17	2013	c.1972G>A	c.(1972-1974)Gtg>Atg	p.V658M	ARHGAP4_ENST00000467421.1_5'UTR|ARHGAP4_ENST00000370028.3_Missense_Mutation_p.V698M|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.V480M|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.V637M|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.V635M	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	658	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGAAGCACACGGCCAGGTTG	0.677																																						uc004fjk.1																			0				central_nervous_system(1)	1						c.(1972-1974)GTG>ATG		Rho GTPase activating protein 4 isoform 2							21.0	22.0	21.0					X																	153175809		2202	4295	6497	SO:0001583	missense	393				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chrX:153175809C>T	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"""Rho GTPase activating proteins"""	674	protein-coding gene	gene with protein product	"""Rho-GAP hematopoietic protein C1"""	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.1972G>A	X.37:g.153175809C>T	ENSP00000203786:p.Val658Met					ARHGAP4_uc004fjj.1_Missense_Mutation_p.V9M|ARHGAP4_uc011mzf.1_Missense_Mutation_p.V635M|ARHGAP4_uc004fjl.1_Missense_Mutation_p.V698M|ARHGAP4_uc010nup.1_Intron	p.V658M	NM_001666	NP_001657	P98171	RHG04_HUMAN			17	2014	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		658			Rho-GAP.		Q14144|Q86UY3	Missense_Mutation	SNP	ENST00000350060.5	37	c.1972G>A	CCDS14736.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094020	0.76870	.	.	ENSG00000089820	ENST00000393721;ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206	T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11	4.9	4.9	0.64082	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.444510	0.16664	N	0.204654	T	0.44767	0.1309	M	0.64997	1.995	0.43050	D	0.994659	D;D	0.76494	0.999;0.999	D;D	0.70716	0.97;0.97	T	0.43310	-0.9399	10	0.87932	D	0	.	16.0415	0.80687	0.0:1.0:0.0:0.0	.	698;658	Q86UY3;P98171	.;RHG04_HUMAN	M	480;698;658;637;635	ENSP00000377322:V480M;ENSP00000359045:V698M;ENSP00000203786:V658M;ENSP00000359033:V637M;ENSP00000444169:V635M	ENSP00000203786:V658M	V	-	1	0	ARHGAP4	152829003	0.636000	0.27207	0.993000	0.49108	0.955000	0.61496	1.295000	0.33377	2.036000	0.60181	0.592000	0.82586	GTG		0.677	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666	
PCDH11Y	83259	broad.mit.edu	37	Y	4966872	4966872	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chrY:4966872C>T	ENST00000333703.4	+	5	1733	c.1220C>T	c.(1219-1221)aCg>aTg	p.T407M	PCDH11Y_ENST00000215473.6_Missense_Mutation_p.T418M|PCDH11Y_ENST00000362095.5_Missense_Mutation_p.T418M	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	418	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T407M(1)|p.T418M(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ATAACTGTGACGGATAAGGAT	0.413																																						uc004fqo.2																			2	Substitution - Missense(2)		prostate(2)		0						c.(1252-1254)ACG>ATG		protocadherin 11 Y-linked isoform c																																				SO:0001583	missense	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:4966872C>T	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"""Cadherins / Protocadherins : Non-clustered"""	15813	protein-coding gene	gene with protein product		400022	"""protocadherin 22"""	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.1220C>T	Y.37:g.4966872C>T	ENSP00000330552:p.Thr407Met					PCDH11Y_uc010nwg.1_Missense_Mutation_p.T407M|PCDH11Y_uc004fql.1_Missense_Mutation_p.T407M|PCDH11Y_uc004fqm.1_Missense_Mutation_p.T407M|PCDH11Y_uc004fqn.1_Missense_Mutation_p.T418M|PCDH11Y_uc004fqp.1_Missense_Mutation_p.T189M	p.T418M	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN			2	1987	+			418			Cadherin 4.|Extracellular (Potential).		Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Missense_Mutation	SNP	ENST00000333703.4	37	c.1253C>T	CCDS14776.1																																																																																				0.413	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084979.2	NM_032973	
