#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
ABCD3	5825	broad.mit.edu	37	1	94953473	94953473	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr1:94953473T>C	ENST00000370214.4	+	13	1115	c.1091T>C	c.(1090-1092)cTt>cCt	p.L364P	ABCD3_ENST00000536817.1_Missense_Mutation_p.L291P|ABCD3_ENST00000454898.2_Missense_Mutation_p.L388P|ABCD3_ENST00000394233.2_Intron|ABCD3_ENST00000484213.1_3'UTR	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	364	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		GGAAGAATGCTTTTGCGAATG	0.333																																						uc010oto.2																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26						c.(1162-1164)cTt>cCt		Homo sapiens ATP-binding cassette, sub-family D (ALD), member 3 (ABCD3), transcript variant 1, mRNA.							96.0	100.0	99.0					1																	94953473		2203	4300	6503	SO:0001583	missense	5825				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94953473T>C	M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"""ATP binding cassette transporters / subfamily D"""	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.1091T>C	1.37:g.94953473T>C	ENSP00000359233:p.Leu364Pro					ABCD3_uc001dqn.4_Missense_Mutation_p.L364P|ABCD3_uc010otp.2_Missense_Mutation_p.L291P|ABCD3_uc009wdr.3_Intron|ABCD3_uc001dqo.4_Missense_Mutation_p.L52P	p.L388P	NM_002858	NP_002849	P28288	ABCD3_HUMAN		all cancers(265;0.0261)|Epithelial(280;0.165)	13	1265	+		all_lung(203;0.000434)|Lung NSC(277;0.0019)	364					D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Missense_Mutation	SNP	ENST00000370214.4	37	c.1163T>C	CCDS749.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.543856	0.86022	.	.	ENSG00000117528	ENST00000454898;ENST00000536817;ENST00000370214	D;D;D	0.98876	-5.2;-5.2;-5.2	5.83	5.83	0.93111	ABC transporter, transmembrane domain, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99257	0.9741	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.992	D	0.99243	1.0885	10	0.87932	D	0	-15.7972	16.1984	0.82046	0.0:0.0:0.0:1.0	.	388;364	E7EUE1;P28288	.;ABCD3_HUMAN	P	388;291;364	ENSP00000403357:L388P;ENSP00000440692:L291P;ENSP00000359233:L364P	ENSP00000359233:L364P	L	+	2	0	ABCD3	94726061	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.694000	0.84235	2.223000	0.72356	0.402000	0.26972	CTT		0.333	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1	NM_002858	
NOTCH2	4853	broad.mit.edu	37	1	120464949	120464949	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr1:120464949G>C	ENST00000256646.2	-	28	5342	c.5123C>G	c.(5122-5124)tCt>tGt	p.S1708C	NOTCH2_ENST00000493703.1_5'Flank	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1708					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGCCAGAGAGAGCCATGCTT	0.512			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													uc001eik.3				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(5122-5124)tCt>tGt		Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.							85.0	82.0	83.0					1																	120464949		2203	4300	6503	SO:0001583	missense	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120464949G>C	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.5123C>G	1.37:g.120464949G>C	ENSP00000256646:p.Ser1708Cys						p.S1708C	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	27	5420	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	1708					Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.5123C>G	CCDS908.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.650015	0.47362	.	.	ENSG00000134250	ENST00000256646	D	0.82255	-1.59	5.65	3.56	0.40772	.	0.212991	0.23610	U	0.046345	T	0.59032	0.2164	L	0.51422	1.61	0.26486	N	0.975022	P	0.39624	0.681	B	0.33750	0.169	T	0.51545	-0.8692	10	0.42905	T	0.14	.	7.1146	0.25409	0.1053:0.0:0.7424:0.1524	.	1708	Q04721	NOTC2_HUMAN	C	1708	ENSP00000256646:S1708C	ENSP00000256646:S1708C	S	-	2	0	NOTCH2	120266472	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.891000	0.56227	0.677000	0.31305	0.655000	0.94253	TCT		0.512	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408	
FLG	2312	broad.mit.edu	37	1	152278815	152278815	+	Silent	SNP	G	G	A	rs200790612		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr1:152278815G>A	ENST00000368799.1	-	3	8582	c.8547C>T	c.(8545-8547)gaC>gaT	p.D2849D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2849	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTGGAGCCGTCTCCTGATT	0.567									Ichthyosis																													uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(8545-8547)gaC>gaT		Homo sapiens filaggrin (FLG), mRNA.		G		2,4290	4.2+/-10.8	0,2,2144	403.0	606.0	539.0		8547	-4.7	0.0	1		539	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FLG	NM_002016.1		0,3,6443	AA,AG,GG		0.0116,0.0466,0.0233		2849/4062	152278815	3,12889	2146	4300	6446	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152278815G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8547C>T	1.37:g.152278815G>A							p.D2849D	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	8583	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2849			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.8547C>T	CCDS30860.1																																																																																				0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
FLG	2312	broad.mit.edu	37	1	152280892	152280892	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr1:152280892G>A	ENST00000368799.1	-	3	6505	c.6470C>T	c.(6469-6471)tCg>tTg	p.S2157L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2157	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTATCTACCGATTGCTCTTG	0.597									Ichthyosis																													uc001ezu.1																			0		p.S2157S(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(6469-6471)tCg>tTg		Homo sapiens filaggrin (FLG), mRNA.							386.0	328.0	348.0					1																	152280892		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152280892G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6470C>T	1.37:g.152280892G>A	ENSP00000357789:p.Ser2157Leu						p.S2157L	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	6506	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2157			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.6470C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	g	5.683	0.310525	0.10733	.	.	ENSG00000143631	ENST00000368799	T	0.03745	3.82	2.59	-1.71	0.08133	.	.	.	.	.	T	0.01061	0.0035	L	0.55103	1.725	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.45483	-0.9258	9	0.26408	T	0.33	.	4.0063	0.09603	0.1329:0.0:0.3602:0.5069	.	2157	P20930	FILA_HUMAN	L	2157	ENSP00000357789:S2157L	ENSP00000357789:S2157L	S	-	2	0	FLG	150547516	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.268000	0.18571	-0.390000	0.07774	-0.663000	0.03849	TCG		0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
SPTA1	6708	broad.mit.edu	37	1	158614180	158614180	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr1:158614180G>C	ENST00000368147.4	-	30	4381	c.4201C>G	c.(4201-4203)Cag>Gag	p.Q1401E		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1401					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAGTTCCCCTGGAACATCTAT	0.453																																						uc001fst.1																			0		p.Q1401Q(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(4201-4203)Cag>Gag		Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.							88.0	85.0	86.0					1																	158614180		1949	4150	6099	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158614180G>C	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4201C>G	1.37:g.158614180G>C	ENSP00000357129:p.Gln1401Glu						p.Q1401E	NM_003126	NP_003117	P02549	SPTA1_HUMAN			29	4400	-	all_hematologic(112;0.0378)		1401					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.4201C>G	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	7.760	0.705096	0.15172	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.50001	0.76;0.76	5.03	4.11	0.48088	.	1.727610	0.03930	N	0.285189	T	0.27559	0.0677	L	0.50333	1.59	0.26401	N	0.976427	B	0.11235	0.004	B	0.19946	0.027	T	0.27365	-1.0076	10	0.30854	T	0.27	.	11.9436	0.52915	0.0:0.0:0.6848:0.3152	.	1401	P02549	SPTA1_HUMAN	E	1401	ENSP00000357130:Q1401E;ENSP00000357129:Q1401E	ENSP00000357129:Q1401E	Q	-	1	0	SPTA1	156880804	1.000000	0.71417	0.906000	0.35671	0.186000	0.23388	5.217000	0.65252	1.461000	0.47929	0.591000	0.81541	CAG		0.453	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
F5	2153	broad.mit.edu	37	1	169525893	169525893	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr1:169525893G>A	ENST00000367797.3	-	6	1144	c.943C>T	c.(943-945)Cat>Tat	p.H315Y	F5_ENST00000367796.3_Missense_Mutation_p.H315Y|F5_ENST00000546081.1_Missense_Mutation_p.H178Y	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	315	F5/8 type A 1.|Plastocyanin-like 2.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CCTTGCAAATGTTTTGGGGTG	0.483																																						uc001ggg.1																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(943-945)Cat>Tat		Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	Drotrecogin alfa(DB00055)						133.0	125.0	127.0					1																	169525893		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169525893G>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.943C>T	1.37:g.169525893G>A	ENSP00000356771:p.His315Tyr					F5_uc010plr.1_Non-coding_Transcript	p.H315Y	NM_000130	NP_000121	P12259	FA5_HUMAN			5	1088	-	all_hematologic(923;0.208)		315			F5/8 type A 1.|Plastocyanin-like 2.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.943C>T	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.859621	0.91433	.	.	ENSG00000198734	ENST00000367797;ENST00000367796;ENST00000546081	D;D;D	0.99853	-7.18;-7.18;-7.18	6.07	6.07	0.98685	Cupredoxin (2);	0.086238	0.85682	D	0.000000	D	0.99894	0.9949	M	0.86502	2.82	0.41322	D	0.987188	D	0.89917	1.0	D	0.71656	0.974	D	0.96936	0.9684	9	0.87932	D	0	-26.8539	20.6439	0.99570	0.0:0.0:1.0:0.0	.	315	P12259	FA5_HUMAN	Y	315;315;178	ENSP00000356771:H315Y;ENSP00000356770:H315Y;ENSP00000439664:H178Y	ENSP00000356770:H315Y	H	-	1	0	F5	167792517	1.000000	0.71417	0.937000	0.37676	0.994000	0.84299	9.434000	0.97515	2.890000	0.99128	0.650000	0.86243	CAT		0.483	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130	
RGL1	23179	broad.mit.edu	37	1	183849845	183849845	+	Missense_Mutation	SNP	A	A	C			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr1:183849845A>C	ENST00000360851.3	+	5	699	c.521A>C	c.(520-522)tAt>tCt	p.Y174S	RGL1_ENST00000304685.4_Missense_Mutation_p.Y209S|RGL1_ENST00000536277.1_Missense_Mutation_p.Y172S|RGL1_ENST00000539189.1_Missense_Mutation_p.Y174S			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	174	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.		Y -> S (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)	p.Y209S(2)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CTGCTGGATTATCTCACACGG	0.498																																						uc001gqm.3																			2	Substitution - Missense(2)	p.Y209S(4)	breast(2)	breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						c.(625-627)tAt>tCt		Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.							93.0	88.0	90.0					1																	183849845		2203	4300	6503	SO:0001583	missense	23179				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	g.chr1:183849845A>C	AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.521A>C	1.37:g.183849845A>C	ENSP00000354097:p.Tyr174Ser					RGL1_uc010pof.1_Intron|RGL1_uc010pog.2_Missense_Mutation_p.Y172S|RGL1_uc010poh.2_Missense_Mutation_p.Y172S|RGL1_uc001gqo.3_Missense_Mutation_p.Y174S|RGL1_uc010poi.2_Missense_Mutation_p.Y174S	p.Y209S	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN			5	1087	+			174					Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	ENST00000360851.3	37	c.626A>C		.	.	.	.	.	.	.	.	.	.	A	18.72	3.685175	0.68157	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000360851;ENST00000539189	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	5.23	4.08	0.47627	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (2);	0.065908	0.64402	D	0.000005	T	0.35158	0.0922	M	0.72479	2.2	0.51012	D	0.999901	B;B;B;B	0.18741	0.002;0.03;0.03;0.03	B;B;B;B	0.21708	0.013;0.036;0.022;0.022	T	0.21552	-1.0242	10	0.87932	D	0	.	12.3767	0.55283	0.8588:0.1412:0.0:0.0	.	174;172;174;209	F5H6U6;B7Z2W5;Q9NZL6;Q5SXQ6	.;.;RGL1_HUMAN;.	S	209;209;172;174;174	ENSP00000303192:Y209S;ENSP00000356501:Y209S;ENSP00000438662:Y172S;ENSP00000354097:Y174S;ENSP00000437355:Y174S	ENSP00000303192:Y209S	Y	+	2	0	RGL1	182116468	1.000000	0.71417	0.971000	0.41717	0.795000	0.44927	6.856000	0.75450	0.898000	0.36418	0.454000	0.30748	TAT		0.498	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149	
RGL1	23179	broad.mit.edu	37	1	183849848	183849848	+	Missense_Mutation	SNP	T	T	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr1:183849848T>A	ENST00000360851.3	+	5	702	c.524T>A	c.(523-525)cTc>cAc	p.L175H	RGL1_ENST00000304685.4_Missense_Mutation_p.L210H|RGL1_ENST00000536277.1_Missense_Mutation_p.L173H|RGL1_ENST00000539189.1_Missense_Mutation_p.L175H			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	175	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CTGGATTATCTCACACGGATG	0.488																																						uc001gqm.3																			0		p.Y209S(2)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						c.(628-630)cTc>cAc		Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.							92.0	87.0	89.0					1																	183849848		2203	4300	6503	SO:0001583	missense	23179				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	g.chr1:183849848T>A	AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.524T>A	1.37:g.183849848T>A	ENSP00000354097:p.Leu175His					RGL1_uc010pof.1_Intron|RGL1_uc010pog.2_Missense_Mutation_p.L173H|RGL1_uc010poh.2_Missense_Mutation_p.L173H|RGL1_uc001gqo.3_Missense_Mutation_p.L175H|RGL1_uc010poi.2_Missense_Mutation_p.L175H	p.L210H	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN			5	1090	+			175					Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	ENST00000360851.3	37	c.629T>A		.	.	.	.	.	.	.	.	.	.	T	20.3	3.965059	0.74131	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000360851;ENST00000539189	T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17	5.34	5.34	0.76211	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.62744	0.2453	M	0.82323	2.585	0.58432	D	0.999994	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;P;P;P	0.68483	0.958;0.908;0.908;0.908	T	0.68739	-0.5329	10	0.66056	D	0.02	.	15.6185	0.76787	0.0:0.0:0.0:1.0	.	175;173;175;210	F5H6U6;B7Z2W5;Q9NZL6;Q5SXQ6	.;.;RGL1_HUMAN;.	H	210;210;173;175;175	ENSP00000303192:L210H;ENSP00000356501:L210H;ENSP00000438662:L173H;ENSP00000354097:L175H;ENSP00000437355:L175H	ENSP00000303192:L210H	L	+	2	0	RGL1	182116471	1.000000	0.71417	0.989000	0.46669	0.700000	0.40528	5.993000	0.70616	2.144000	0.66660	0.454000	0.30748	CTC		0.488	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149	
ASPM	259266	broad.mit.edu	37	1	197112574	197112574	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr1:197112574A>G	ENST00000367409.4	-	3	1064	c.808T>C	c.(808-810)Tct>Cct	p.S270P	ASPM_ENST00000294732.7_Missense_Mutation_p.S270P	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	270					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TCATTAAAAGAAACTTTTGAA	0.378																																						uc001gtu.3																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(808-810)Tct>Cct		Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.							93.0	91.0	92.0					1																	197112574		2203	4299	6502	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197112574A>G	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.808T>C	1.37:g.197112574A>G	ENSP00000356379:p.Ser270Pro					ASPM_uc001gtv.3_Missense_Mutation_p.S270P|ASPM_uc001gtw.4_Intron	p.S270P	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			2	1065	-			270					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.808T>C	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	A	3.168	-0.170715	0.06421	.	.	ENSG00000066279	ENST00000367409;ENST00000294732	T;T	0.58940	0.3;1.59	4.78	-3.2	0.05156	.	1.231100	0.05595	N	0.575237	T	0.35856	0.0946	N	0.22421	0.69	0.09310	N	1	B;B	0.22604	0.072;0.0	B;B	0.20384	0.029;0.0	T	0.18650	-1.0330	10	0.38643	T	0.18	.	1.106	0.01693	0.2418:0.2934:0.2953:0.1695	.	270;270	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	P	270	ENSP00000356379:S270P;ENSP00000294732:S270P	ENSP00000294732:S270P	S	-	1	0	ASPM	195379197	0.000000	0.05858	0.082000	0.20525	0.018000	0.09664	-1.280000	0.02804	-0.232000	0.09811	-0.322000	0.08575	TCT		0.378	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136	
ANO9	338440	broad.mit.edu	37	11	433453	433453	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr11:433453G>A	ENST00000332826.6	-	4	295	c.211C>T	c.(211-213)Cgg>Tgg	p.R71W		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	71					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						TTCTGGTCCCGGATCACCTGG	0.612																																						uc001lpi.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						c.(211-213)Cgg>Tgg		Homo sapiens anoctamin 9 (ANO9), mRNA.							112.0	111.0	111.0					11																	433453		2203	4299	6502	SO:0001583	missense	338440					chloride channel complex	chloride channel activity	g.chr11:433453G>A	U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	20679	protein-coding gene	gene with protein product			"""tumor protein p53 inducible protein 5"", ""transmembrane protein 16J"""	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.211C>T	11.37:g.433453G>A	ENSP00000332788:p.Arg71Trp					ANO9_uc010qvv.1_5'UTR	p.R71W	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN			3	296	-			71					B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP	ENST00000332826.6	37	c.211C>T	CCDS31326.1	.	.	.	.	.	.	.	.	.	.	g	10.58	1.389033	0.25118	.	.	ENSG00000185101	ENST00000332826	T	0.68331	-0.32	3.31	-2.62	0.06152	.	.	.	.	.	T	0.42040	0.1185	N	0.14661	0.345	0.09310	N	1	D	0.63046	0.992	B	0.40534	0.332	T	0.40701	-0.9549	9	0.72032	D	0.01	.	5.4201	0.16396	0.0:0.2196:0.4651:0.3153	.	71	A1A5B4	ANO9_HUMAN	W	71	ENSP00000332788:R71W	ENSP00000332788:R71W	R	-	1	2	ANO9	423453	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.599000	0.02085	-0.491000	0.06697	-0.857000	0.03018	CGG		0.612	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302	
TTC17	55761	broad.mit.edu	37	11	43464880	43464880	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr11:43464880G>A	ENST00000039989.4	+	17	2271	c.2257G>A	c.(2257-2259)Gtg>Atg	p.V753M	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.V810M	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	753					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TTCAGGTACGGTGGTTGAGGA	0.443																																						uc001mxi.3																			0		p.T752T(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						c.(2257-2259)Gtg>Atg		Homo sapiens tetratricopeptide repeat domain 17 (TTC17), mRNA.							105.0	101.0	103.0					11																	43464880		2203	4300	6503	SO:0001583	missense	55761						binding	g.chr11:43464880G>A	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.2257G>A	11.37:g.43464880G>A	ENSP00000039989:p.Val753Met					TTC17_uc001mxh.3_Missense_Mutation_p.V810M|TTC17_uc010rfj.2_Missense_Mutation_p.V753M|TTC17_uc001mxj.3_Missense_Mutation_p.V580M	p.V753M	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN			16	2327	+			753					G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	c.2257G>A	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.755642	0.69648	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.45276	0.9;1.2	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.50411	0.1614	L	0.32530	0.975	0.45662	D	0.998581	D;D;D	0.69078	0.995;0.961;0.997	P;P;P	0.62014	0.793;0.556;0.897	T	0.34204	-0.9838	10	0.31617	T	0.26	-16.4863	16.1142	0.81289	0.0:0.1336:0.8664:0.0	.	810;753;810	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	M	810;753	ENSP00000299240:V810M;ENSP00000039989:V753M	ENSP00000039989:V753M	V	+	1	0	TTC17	43421456	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	6.480000	0.73604	2.697000	0.92050	0.557000	0.71058	GTG		0.443	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259	
OR4X1	390113	broad.mit.edu	37	11	48285739	48285739	+	Silent	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr11:48285739G>A	ENST00000320048.1	+	1	327	c.327G>A	c.(325-327)gaG>gaA	p.E109E		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						GTGGCACTGAGGCCTTTCTCC	0.507																																						uc010rht.2																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						c.(325-327)gaG>gaA		Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.							78.0	74.0	75.0					11																	48285739		2201	4298	6499	SO:0001819	synonymous_variant	390113				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48285739G>A	AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"""GPCR / Class A : Olfactory receptors"""	14854	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily X, member 1"""				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.327G>A	11.37:g.48285739G>A							p.E109E	NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN			0	327	+			109					Q6IF74	Silent	SNP	ENST00000320048.1	37	c.327G>A	CCDS31487.1																																																																																				0.507	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383373.1	NM_001004726	
ACY3	91703	broad.mit.edu	37	11	67413173	67413173	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr11:67413173C>T	ENST00000255082.3	-	4	592	c.422G>A	c.(421-423)cGc>cAc	p.R141H	ACY3_ENST00000529256.1_Missense_Mutation_p.R20H	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	141	Hydrolytic domain. {ECO:0000250}.				viral process (GO:0016032)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	CTGCAGATGGCGGCACAGGTG	0.617																																					GBM(56;346 1011 27014 29495 46841)	uc001omq.3																			0				endometrium(1)|lung(5)|prostate(2)	8						c.(421-423)cGc>cAc		Homo sapiens aspartoacylase (aminocyclase) 3 (ACY3), mRNA.	L-Aspartic Acid(DB00128)						114.0	101.0	105.0					11																	67413173		2200	4294	6494	SO:0001583	missense	91703				interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding	g.chr11:67413173C>T	BC008689	CCDS8175.1	11q13.2	2014-08-08			ENSG00000132744	ENSG00000132744			24104	protein-coding gene	gene with protein product		614413				14656720	Standard	NM_080658		Approved	HCBP1, MGC9740, ACY-3	uc001omq.3	Q96HD9	OTTHUMG00000167283	ENST00000255082.3:c.422G>A	11.37:g.67413173C>T	ENSP00000255082:p.Arg141His						p.R141H	NM_080658	NP_542389	Q96HD9	ACY3_HUMAN			3	593	-			141						Missense_Mutation	SNP	ENST00000255082.3	37	c.422G>A	CCDS8175.1	.	.	.	.	.	.	.	.	.	.	C	0.913	-0.718387	0.03182	.	.	ENSG00000132744	ENST00000255082;ENST00000529256	D;D	0.97870	-4.58;-4.58	4.48	-5.66	0.02451	.	0.424874	0.23997	N	0.042505	D	0.89396	0.6703	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.80023	-0.1556	10	0.39692	T	0.17	-15.2167	9.1102	0.36723	0.0:0.5231:0.1216:0.3553	.	141	Q96HD9	ACY3_HUMAN	H	141;20	ENSP00000255082:R141H;ENSP00000434270:R20H	ENSP00000255082:R141H	R	-	2	0	ACY3	67169749	0.014000	0.17966	0.011000	0.14972	0.474000	0.32979	-0.132000	0.10467	-1.158000	0.02811	-0.367000	0.07326	CGC		0.617	ACY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394002.1	NM_080658	
RELT	84957	broad.mit.edu	37	11	73102204	73102204	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr11:73102204G>C	ENST00000064780.2	+	5	564	c.303G>C	c.(301-303)tgG>tgC	p.W101C	RELT_ENST00000393580.2_Missense_Mutation_p.W101C	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	101						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						TTGGGCCTTGGGGGGTTCCCC	0.587																																						uc001otv.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						c.(301-303)tgG>tgC		Homo sapiens RELT tumor necrosis factor receptor (RELT), transcript variant 2, mRNA.							151.0	138.0	142.0					11																	73102204		2200	4293	6493	SO:0001583	missense	84957					cytoplasm|integral to membrane|plasma membrane	binding|receptor activity	g.chr11:73102204G>C	AF319553	CCDS8222.1	11q13.2	2013-05-22	2007-06-14	2007-06-14		ENSG00000054967		"""Tumor necrosis factor receptor superfamily"""	13764	protein-coding gene	gene with protein product		611211	"""tumor necrosis factor receptor superfamily, member 19-like"""	TNFRSF19L		11313261, 16547002, 16950202, 16389068	Standard	NM_032871		Approved	FLJ14993	uc001otv.3	Q969Z4		ENST00000064780.2:c.303G>C	11.37:g.73102204G>C	ENSP00000064780:p.Trp101Cys					RELT_uc001otw.3_Missense_Mutation_p.W101C|RELT_uc009yto.1_Missense_Mutation_p.W19C|RELT_uc001otx.3_5'Flank	p.W101C	NM_152222	NP_689408	Q969Z4	TR19L_HUMAN			4	468	+			101					Q86V34|Q96JU1|Q9BUX7	Missense_Mutation	SNP	ENST00000064780.2	37	c.303G>C	CCDS8222.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.937299	0.34189	.	.	ENSG00000054967	ENST00000064780;ENST00000545687;ENST00000393580	T;T;T	0.80653	-0.86;-1.4;-0.86	5.28	-0.0453	0.13852	.	1.092350	0.06947	N	0.813881	T	0.62097	0.2400	N	0.19112	0.55	0.09310	N	1	B	0.30664	0.289	B	0.28305	0.088	T	0.52426	-0.8577	10	0.41790	T	0.15	2.9408	0.5003	0.00578	0.284:0.1864:0.3411:0.1885	.	101	Q969Z4	TR19L_HUMAN	C	101	ENSP00000064780:W101C;ENSP00000439352:W101C;ENSP00000377207:W101C	ENSP00000064780:W101C	W	+	3	0	RELT	72779852	0.001000	0.12720	0.008000	0.14137	0.380000	0.30137	0.026000	0.13599	0.154000	0.19237	0.655000	0.94253	TGG		0.587	RELT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397380.2	NM_032871	
OR6M1	390261	broad.mit.edu	37	11	123676770	123676770	+	Missense_Mutation	SNP	C	C	T	rs368975645		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr11:123676770C>T	ENST00000309154.2	-	1	325	c.288G>A	c.(286-288)atG>atA	p.M96I		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	96						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)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		ATGTTTGGATCATGCAACCAG	0.458																																						uc010rzz.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29						c.(286-288)atG>atA		Homo sapiens olfactory receptor, family 6, subfamily M, member 1 (OR6M1), mRNA.		C	ILE/MET	0,4404		0,0,2202	80.0	76.0	78.0		288	-2.3	0.0	11		78	1,8597	1.2+/-3.3	0,1,4298	no	missense	OR6M1	NM_001005325.1	10	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign	96/314	123676770	1,13001	2202	4299	6501	SO:0001583	missense	390261				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123676770C>T	AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"""GPCR / Class A : Olfactory receptors"""	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.288G>A	11.37:g.123676770C>T	ENSP00000311038:p.Met96Ile						p.M96I	NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)	0	288	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	96					B2RNK0|Q6IEW9|Q96R37	Missense_Mutation	SNP	ENST00000309154.2	37	c.288G>A	CCDS31696.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.242923	0.00022	0.0	1.16E-4	ENSG00000196099	ENST00000309154	T	0.00359	7.87	3.68	-2.26	0.06867	GPCR, rhodopsin-like superfamily (1);	0.506604	0.14502	N	0.315681	T	0.00073	0.0002	N	0.01771	-0.73	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38628	-0.9652	10	0.02654	T	1	.	0.6534	0.00830	0.1956:0.2938:0.2348:0.2758	.	96	Q8NGM8	OR6M1_HUMAN	I	96	ENSP00000311038:M96I	ENSP00000311038:M96I	M	-	3	0	OR6M1	123181980	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.427000	0.02441	-0.825000	0.04290	-0.867000	0.03001	ATG		0.458	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387437.1	NM_001005325	
CNTN1	1272	broad.mit.edu	37	12	41333137	41333137	+	Splice_Site	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr12:41333137C>T	ENST00000551295.2	+	12	1346	c.1229C>T	c.(1228-1230)gCg>gTg	p.A410V	CNTN1_ENST00000547849.1_Splice_Site_p.A410V|CNTN1_ENST00000347616.1_Splice_Site_p.A410V|CNTN1_ENST00000348761.2_Splice_Site_p.A399V|CNTN1_ENST00000360099.3_Splice_Site_p.A410V|CNTN1_ENST00000547702.1_Splice_Site_p.A410V	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	410					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TTCTTTTTAGCGTTGGCTCCA	0.348																																						uc001rmm.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90						c.e12-1		Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.							55.0	56.0	56.0					12																	41333137		2203	4300	6503	SO:0001630	splice_region_variant	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41333137C>T	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.1229-1C>T	12.37:g.41333137C>T						CNTN1_uc009zjy.2_Splice_Site_p.A410_splice|CNTN1_uc001rmn.1_Splice_Site_p.A399_splice|CNTN1_uc001rmo.3_Splice_Site_p.A410_splice	p.A410_splice	NM_001843	NP_001834	Q12860	CNTN1_HUMAN			12	1342	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	410					A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	c.1229_splice	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.516148	0.44763	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.64991	-0.13;0.25;-0.13;0.25;-0.13;0.23	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.58293	0.2112	M	0.80982	2.52	0.54753	D	0.999986	P;P;B	0.37466	0.596;0.544;0.409	B;B;B	0.23574	0.047;0.019;0.014	T	0.63528	-0.6617	9	.	.	.	.	13.3437	0.60559	0.0:0.9225:0.0:0.0775	.	410;399;410	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	V	410;410;410;410;410;399	ENSP00000448004:A410V;ENSP00000447006:A410V;ENSP00000448653:A410V;ENSP00000325660:A410V;ENSP00000353213:A410V;ENSP00000261160:A399V	.	A	+	2	0	CNTN1	39619404	1.000000	0.71417	0.998000	0.56505	0.636000	0.38137	3.570000	0.53834	2.648000	0.89879	0.561000	0.74099	GCG		0.348	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843	Missense_Mutation
TRHDE	29953	broad.mit.edu	37	12	72771778	72771778	+	Nonsense_Mutation	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr12:72771778C>T	ENST00000261180.4	+	3	1153	c.1057C>T	c.(1057-1059)Cga>Tga	p.R353*		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	353					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)	p.R353*(1)		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						taattaGGTACGATTATATGC	0.308																																						uc001sxa.3																			1	Substitution - Nonsense(1)	p.R353*(2)|p.R353Q(1)	large_intestine(1)	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						c.(1057-1059)Cga>Tga		Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.							30.0	31.0	31.0					12																	72771778		2203	4293	6496	SO:0001587	stop_gained	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72771778C>T	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.1057C>T	12.37:g.72771778C>T	ENSP00000261180:p.Arg353*						p.R353*	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			2	1087	+			353					A5PL19|Q6UWJ4	Nonsense_Mutation	SNP	ENST00000261180.4	37	c.1057C>T	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	C	38	6.833730	0.97873	.	.	ENSG00000072657	ENST00000261180	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3917	0.66983	0.1477:0.8523:0.0:0.0	.	.	.	.	X	353	.	ENSP00000261180:R353X	R	+	1	2	TRHDE	71058045	1.000000	0.71417	0.979000	0.43373	0.991000	0.79684	4.342000	0.59341	2.645000	0.89757	0.585000	0.79938	CGA		0.308	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381	
TBX5	6910	broad.mit.edu	37	12	114793581	114793581	+	Missense_Mutation	SNP	C	C	T	rs557758851	byFrequency	TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr12:114793581C>T	ENST00000310346.4	-	9	1979	c.1313G>A	c.(1312-1314)cGg>cAg	p.R438Q	TBX5_ENST00000405440.2_Missense_Mutation_p.R438Q|TBX5_ENST00000349716.5_Missense_Mutation_p.R388Q	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	438				MDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQ TS -> WTGYPTSTSPLTSPRGPWSLGWLAWQPWLPTAGRG NVPSTRPP (in Ref. 1; CAA70592). {ECO:0000305}.	apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GCCAGCCAGCCGAGGGACCAG	0.657													C|||	3	0.000599042	0.0	0.0	5008	,	,		20667	0.0		0.0	False		,,,				2504	0.0031				NSCLC(152;1358 1980 4050 23898 40356)	uc001tvo.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1312-1314)cGg>cAg		Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA.							21.0	24.0	23.0					12																	114793581		2200	4298	6498	SO:0001583	missense	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114793581C>T	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.1313G>A	12.37:g.114793581C>T	ENSP00000309913:p.Arg438Gln					TBX5_uc001tvp.3_Missense_Mutation_p.R438Q|TBX5_uc001tvq.3_Missense_Mutation_p.R388Q	p.R438Q	NM_181486	NP_542448	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	8	1808	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		438	MDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQ TS -> WTGYPTSTSPLTSPRGPWSLGWLAWQPWLPTAGRG NVPSTRPP (in Ref. 1; CAA70592).				A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	37	c.1313G>A	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	C	34	5.321039	0.95682	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440	T;T;T	0.59224	0.28;0.28;0.28	5.27	5.27	0.74061	.	0.208186	0.39475	N	0.001341	T	0.61476	0.2350	M	0.70275	2.135	0.80722	D	1	D	0.54601	0.967	B	0.44085	0.44	T	0.62941	-0.6747	10	0.29301	T	0.29	.	18.8889	0.92391	0.0:1.0:0.0:0.0	.	438	Q99593	TBX5_HUMAN	Q	388;438;335;438	ENSP00000337723:R388Q;ENSP00000309913:R438Q;ENSP00000384152:R438Q	ENSP00000309913:R438Q	R	-	2	0	TBX5	113277964	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.482000	0.81143	2.463000	0.83235	0.655000	0.94253	CGG		0.657	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717	
SUPT20H	55578	broad.mit.edu	37	13	37583874	37583876	+	In_Frame_Del	DEL	GAT	GAT	-	rs149036783		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr13:37583874_37583876delGAT	ENST00000350612.6	-	26	2493_2495	c.2273_2275delATC	c.(2272-2277)catcgg>cgg	p.H758del	SUPT20H_ENST00000475892.1_In_Frame_Del_p.802_803SS>S|SUPT20H_ENST00000464744.1_In_Frame_Del_p.724_725SS>S|SUPT20H_ENST00000360252.4_In_Frame_Del_p.724_725SS>S|SUPT20H_ENST00000356185.3_In_Frame_Del_p.724_725SS>S	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	758					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										CCTGTATGCCGATGATGATGTAG	0.424																																						uc001uwk.3																			0				cervix(1)|endometrium(2)|large_intestine(6)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(2404-2409)tcatcg>tcg		Homo sapiens family with sequence similarity 48, member A (FAM48A), transcript variant 2, mRNA.																																				SO:0001651	inframe_deletion	55578				autophagy|gastrulation	SAGA-type complex	protein binding	g.chr13:37583874_37583876delGAT	AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"""p38 interacting protein"", ""transcription factor (p38 interacting protein)"""	613417	"""chromosome 13 open reading frame 19"", ""family with sequence similarity 48, member A"""	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.2273_2275delATC	13.37:g.37583880_37583882delGAT	ENSP00000218894:p.His758del					FAM48A_uc010abt.3_In_Frame_Del_p.724_725SS>S|FAM48A_uc001uwg.3_In_Frame_Del_p.H758del|FAM48A_uc001uwh.3_In_Frame_Del_p.724_725SS>S|FAM48A_uc001uwi.3_In_Frame_Del_p.723_724SS>S|FAM48A_uc001uwj.3_In_Frame_Del_p.724_725SS>S|FAM48A_uc001uwd.3_In_Frame_Del_p.210_211SS>S|FAM48A_uc001uwe.3_In_Frame_Del_p.H242del|FAM48A_uc001uwf.3_In_Frame_Del_p.H324del	p.802_803SS>S	NM_017569	NP_060039	Q8NEM7	FA48A_HUMAN		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)	24	2654_2656	-		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)	723					E7ER46|Q71RF3|Q9Y6A6	In_Frame_Del	DEL	ENST00000350612.6	37	c.2406_2408delATC	CCDS31959.1																																																																																				0.424	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354766.1	NM_017569	
RB1	5925	broad.mit.edu	37	13	48941711	48941711	+	Frame_Shift_Del	DEL	A	A	-	rs587778844|rs587778855		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr13:48941711delA	ENST00000267163.4	+	10	1159	c.1021delA	c.(1021-1023)aaafs	p.K341fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	341					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(7)|p.D340fs*5(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GGATCATGATAAAACTCTTCA	0.279		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.3		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		23	Whole gene deletion(15)|Unknown(7)|Deletion - Frameshift(1)	p.0?(15)|p.?(7)|p.D340fs*5(2)	bone(11)|breast(5)|adrenal_gland(1)|eye(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|lung(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496						c.(1021-1023)aaafs		Homo sapiens retinoblastoma 1 (RB1), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						70.0	84.0	79.0					13																	48941711		2192	4288	6480	SO:0001589	frameshift_variant	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48941711delA	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1021delA	13.37:g.48941711delA	ENSP00000267163:p.Lys341fs	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_uc010act.1_Frame_Shift_Del_p.K42fs	p.K341fs	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	9	1187	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	341					A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	ENST00000267163.4	37	c.1021delA	CCDS31973.1																																																																																				0.279	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
CLYBL	171425	broad.mit.edu	37	13	100425234	100425234	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr13:100425234C>G	ENST00000376360.1	+	2	246	c.219C>G	c.(217-219)gaC>gaG	p.D73E	CLYBL_ENST00000376354.1_Missense_Mutation_p.D73E|CLYBL_ENST00000339105.4_Missense_Mutation_p.D73E|CLYBL_ENST00000376355.3_Missense_Mutation_p.D73E|CLYBL_ENST00000444838.2_Missense_Mutation_p.D73E			Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	73						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|metal ion binding (GO:0046872)			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGTGCTCGACTGTGAGGATG	0.398																																						uc001vok.3																			0				NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25						c.(217-219)gaC>gaG		Homo sapiens citrate lyase beta like (CLYBL), mRNA.							102.0	99.0	100.0					13																	100425234		2203	4300	6503	SO:0001583	missense	171425				cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding	g.chr13:100425234C>G	AF428253	CCDS32002.1	13q32.3	2011-04-08			ENSG00000125246	ENSG00000125246			18355	protein-coding gene	gene with protein product		609686					Standard	XM_005254030		Approved	CLB	uc001vok.3	Q8N0X4	OTTHUMG00000017278	ENST00000376360.1:c.219C>G	13.37:g.100425234C>G	ENSP00000365538:p.Asp73Glu					CLYBL_uc010tix.2_Missense_Mutation_p.D73E|CLYBL_uc010tiy.2_Missense_Mutation_p.D73E	p.D73E	NM_206808	NP_996531	Q8N0X4	CLYBL_HUMAN			1	250	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		73					Q5W0F7|Q8TDH8	Missense_Mutation	SNP	ENST00000376360.1	37	c.219C>G	CCDS32002.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069525	0.55539	.	.	ENSG00000125246	ENST00000376355;ENST00000376360;ENST00000444838;ENST00000376354;ENST00000339105	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	5.32	3.58	0.41010	Aldehyde-lyase domain (1);Pyruvate/Phosphoenolpyruvate kinase (2);	0.000000	0.85682	D	0.000000	T	0.80210	0.4581	M	0.92268	3.29	0.49299	D	0.999772	D;P;P	0.59357	0.985;0.814;0.845	D;B;P	0.63192	0.912;0.333;0.773	T	0.81415	-0.0943	10	0.59425	D	0.04	16.8327	10.0518	0.42221	0.0:0.7802:0.0:0.2198	.	73;73;73	B4DU60;Q8N0X4-2;Q8N0X4	.;.;CLYBL_HUMAN	E	73	ENSP00000365533:D73E;ENSP00000365538:D73E;ENSP00000404768:D73E;ENSP00000365532:D73E;ENSP00000342991:D73E	ENSP00000342991:D73E	D	+	3	2	CLYBL	99223235	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.736000	0.47385	0.623000	0.30267	0.462000	0.41574	GAC		0.398	CLYBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045611.1		
ATP11A	23250	broad.mit.edu	37	13	113485796	113485796	+	Silent	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr13:113485796C>T	ENST00000487903.1	+	13	1417	c.1329C>T	c.(1327-1329)aaC>aaT	p.N443N	ATP11A_ENST00000375630.2_Silent_p.N443N|ATP11A_ENST00000375645.3_Silent_p.N443N|ATP11A_ENST00000283558.8_Silent_p.N443N			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	443					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TCATCTGCAACGGGCAGGTCC	0.587																																						uc001vsj.4																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51						c.(1327-1329)aaC>aaT		Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA.							159.0	112.0	128.0					13																	113485796		2203	4300	6503	SO:0001819	synonymous_variant	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113485796C>T	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.1329C>T	13.37:g.113485796C>T						ATP11A_uc001vsi.4_Silent_p.N443N|ATP11A_uc001vsm.1_Silent_p.N319N	p.N443N	NM_032189	NP_115565	P98196	AT11A_HUMAN			12	1417	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	443					Q5VXT2	Silent	SNP	ENST00000487903.1	37	c.1329C>T	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	C	8.907	0.957737	0.18507	.	.	ENSG00000068650	ENST00000418678	.	.	.	5.45	-0.104	0.13605	.	.	.	.	.	T	0.55545	0.1927	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48399	-0.9039	4	.	.	.	.	9.1559	0.36992	0.0:0.3608:0.0:0.6392	.	.	.	.	M	418	.	.	T	+	2	0	ATP11A	112533797	0.433000	0.25562	0.996000	0.52242	0.765000	0.43378	-0.378000	0.07446	-0.047000	0.13423	0.561000	0.74099	ACG		0.587	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205	
MYH7	4625	broad.mit.edu	37	14	23883029	23883029	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr14:23883029G>A	ENST00000355349.3	-	39	5891	c.5729C>T	c.(5728-5730)gCg>gTg	p.A1910V	CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1910					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GGCGATGTCCGCCCGCTCCTC	0.622																																						uc001wjx.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(5728-5730)gCg>gTg		Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.							122.0	110.0	114.0					14																	23883029		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23883029G>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.5729C>T	14.37:g.23883029G>A	ENSP00000347507:p.Ala1910Val						p.A1910V	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	38	5835	-	all_cancers(95;2.54e-05)		1910					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.5729C>T	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	G	35	5.472092	0.96274	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.82619	-1.63	5.6	5.6	0.85130	Myosin tail (1);	.	.	.	.	D	0.94788	0.8317	H	0.97682	4.055	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96096	0.9065	9	0.66056	D	0.02	.	19.1973	0.93695	0.0:0.0:1.0:0.0	.	1910	P12883	MYH7_HUMAN	V	1910;1915	ENSP00000347507:A1910V	ENSP00000347507:A1910V	A	-	2	0	MYH7	22952869	1.000000	0.71417	0.957000	0.39632	0.796000	0.44982	9.657000	0.98554	2.653000	0.90120	0.561000	0.74099	GCG		0.622	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257	
MYH7	4625	broad.mit.edu	37	14	23902877	23902877	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr14:23902877T>C	ENST00000355349.3	-	3	227	c.65A>G	c.(64-66)gAg>gGg	p.E22G		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	22					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TTCTAGCCGCTCCTTCTCTGA	0.577																																						uc001wjx.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(64-66)gAg>gGg		Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.							78.0	74.0	75.0					14																	23902877		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23902877T>C	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.65A>G	14.37:g.23902877T>C	ENSP00000347507:p.Glu22Gly						p.E22G	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	2	171	-	all_cancers(95;2.54e-05)		22			Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.65A>G	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	T	16.78	3.216649	0.58452	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.86432	-2.12	4.26	4.26	0.50523	.	.	.	.	.	D	0.93923	0.8055	M	0.91663	3.23	0.58432	D	0.999993	D	0.76494	0.999	D	0.87578	0.998	D	0.94389	0.7612	9	0.87932	D	0	.	10.2363	0.43286	0.0:0.0:0.1664:0.8336	.	22	P12883	MYH7_HUMAN	G	22	ENSP00000347507:E22G	ENSP00000347507:E22G	E	-	2	0	MYH7	22972717	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.091000	0.64505	1.684000	0.51022	0.454000	0.30748	GAG		0.577	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257	
LTBP2	4053	broad.mit.edu	37	14	74992813	74992813	+	Missense_Mutation	SNP	G	G	A	rs551341275		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr14:74992813G>A	ENST00000261978.4	-	14	2779	c.2393C>T	c.(2392-2394)aCg>aTg	p.T798M	LTBP2_ENST00000556690.1_Missense_Mutation_p.T798M	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	798					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GACACTGGTCGTGACCTGCAC	0.577													G|||	0	0.0	0.0	0.0	5008	,	,		19327	0.0		0.0	False		,,,				2504	0.0					uc001xqa.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2392-2394)aCg>aTg		Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.							115.0	90.0	98.0					14																	74992813		2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74992813G>A		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.2393C>T	14.37:g.74992813G>A	ENSP00000261978:p.Thr798Met						p.T798M	NM_000428	NP_000419	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	13	2780	-			798					Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.2393C>T	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	G	6.894	0.534496	0.13188	.	.	ENSG00000119681	ENST00000261978;ENST00000556690;ENST00000556359	T;T	0.78816	-1.21;-1.21	4.57	2.68	0.31781	.	0.409284	0.18240	N	0.147279	T	0.61862	0.2381	L	0.29908	0.895	0.09310	N	1	B	0.17852	0.024	B	0.10450	0.005	T	0.48768	-0.9006	10	0.33940	T	0.23	.	5.6037	0.17367	0.0987:0.0:0.7079:0.1935	.	798	Q14767	LTBP2_HUMAN	M	798;798;58	ENSP00000261978:T798M;ENSP00000451477:T798M	ENSP00000261978:T798M	T	-	2	0	LTBP2	74062566	0.654000	0.27367	0.020000	0.16555	0.419000	0.31324	0.897000	0.28390	0.806000	0.34183	-0.137000	0.14449	ACG		0.577	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428	
NRXN3	9369	broad.mit.edu	37	14	79181464	79181464	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr14:79181464G>C	ENST00000554719.1	+	5	1398	c.907G>C	c.(907-909)Gga>Cga	p.G303R	NRXN3_ENST00000335750.5_Missense_Mutation_p.G303R	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CGGATACTGGGGAAGAACCTG	0.587																																						uc001xun.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(907-909)Gga>Cga		Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.							44.0	45.0	44.0					14																	79181464		2203	4300	6503	SO:0001583	missense	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:79181464G>C	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.907G>C	14.37:g.79181464G>C	ENSP00000451648:p.Gly303Arg					NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.G437R	p.G303R	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	4	1398	+		Renal(4;0.00876)	0					A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	c.907G>C	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131227	0.77549	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	D;D	0.87491	-2.26;-2.26	6.06	6.06	0.98353	Concanavalin A-like lectin/glucanase (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.235039	0.42294	D	0.000721	D	0.93743	0.8000	.	.	.	0.58432	D	0.999995	D;D	0.89917	0.957;1.0	B;D	0.73708	0.364;0.981	D	0.92539	0.6040	8	.	.	.	.	20.6243	0.99512	0.0:0.0:1.0:0.0	.	676;303	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	R	676;674;303;303	ENSP00000451648:G303R;ENSP00000338349:G303R	.	G	+	1	0	NRXN3	78251217	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.306000	0.59117	2.879000	0.98667	0.650000	0.86243	GGA		0.587	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250	
TDRD9	122402	broad.mit.edu	37	14	104481128	104481128	+	Nonsense_Mutation	SNP	C	C	T	rs143367834		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr14:104481128C>T	ENST00000409874.4	+	21	2221	c.2173C>T	c.(2173-2175)Cga>Tga	p.R725*	RN7SL634P_ENST00000485467.2_RNA|TDRD9_ENST00000339063.5_Nonsense_Mutation_p.R725*	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	725					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				TGATTCTCGGCGACCTGTCAT	0.368													C|||	1	0.000199681	0.0	0.0	5008	,	,		18278	0.0		0.001	False		,,,				2504	0.0					uc001yom.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33						c.(2173-2175)Cga>Tga		Homo sapiens tudor domain containing 9 (TDRD9), mRNA.		C	stop/ARG	0,4406		0,0,2203	153.0	153.0	153.0		2173	1.5	0.0	14	dbSNP_134	153	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	TDRD9	NM_153046.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		725/1383	104481128	1,13005	2203	4300	6503	SO:0001587	stop_gained	122402				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr14:104481128C>T	AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"""Tudor domain containing"""	20122	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 75"""	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.2173C>T	14.37:g.104481128C>T	ENSP00000387303:p.Arg725*					TDRD9_uc001yon.4_Nonsense_Mutation_p.R463*	p.R725*	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN			20	2203	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)	725					A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Nonsense_Mutation	SNP	ENST00000409874.4	37	c.2173C>T	CCDS9987.2	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	C|C	34|34	5.313706|5.313706	0.95655|0.95655	0.0|0.0	1.16E-4|1.16E-4	ENSG00000156414|ENSG00000156414	ENST00000557332|ENST00000409874;ENST00000339063	.|.	.|.	.|.	4.94|4.94	1.5|1.5	0.22942|0.22942	.|.	.|0.946620	.|0.08679	.|N	.|0.909770	T|.	0.24084|.	0.0583|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34850|.	-0.9812|.	3|.	.|0.09590	.|T	.|0.72	.|.	9.0243|9.0243	0.36220|0.36220	0.4118:0.5176:0.0:0.0706|0.4118:0.5176:0.0:0.0706	.|.	.|.	.|.	.|.	V|X	451|725	.|.	.|ENSP00000343545:R725X	A|R	+|+	2|1	0|2	TDRD9|TDRD9	103550881|103550881	0.000000|0.000000	0.05858|0.05858	0.014000|0.014000	0.15608|0.15608	0.977000|0.977000	0.68977|0.68977	0.450000|0.450000	0.21762|0.21762	0.424000|0.424000	0.26061|0.26061	0.563000|0.563000	0.77884|0.77884	GCG|CGA		0.368	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3	NM_153046	
HERC2P3	283755	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.A803V(4)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463																																						uc001ytg.3																			4	Substitution - Missense(4)	p.A803V(8)|p.R802K(1)	lung(3)|endometrium(1)	central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(2407-2409)gCg>gTg		Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.							116.0	62.0	82.0					15																	20644850		1509	2699	4208			283755							g.chr15:20644850G>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20644850G>A						HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Missense_Mutation_p.A803V|HERC2P3_uc010tyy.2_Missense_Mutation_p.A803V	p.A803V							20	3117	-									Missense_Mutation	SNP	ENST00000428453.1	37	c.2408C>T																																																																																					0.463	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269	
NDN	4692	broad.mit.edu	37	15	23931758	23931758	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr15:23931758G>A	ENST00000331837.4	-	1	692	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	203	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CTGGCGCCGCGGCCCTTCACG	0.662									Prader-Willi syndrome																													uc001ywk.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39						c.(607-609)Cgc>Tgc		Homo sapiens necdin homolog (mouse) (NDN), mRNA.							25.0	25.0	25.0					15																	23931758		2197	4290	6487	SO:0001583	missense	4692	Prader-Willi syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	g.chr15:23931758G>A	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"""Prader-Willi syndrome chromosome region"""	602117	"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.607C>T	15.37:g.23931758G>A	ENSP00000332643:p.Arg203Cys						p.R203C	NM_002487	NP_002478	Q99608	NECD_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	0	693	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)	203			MAGE.		B2R6Z5	Missense_Mutation	SNP	ENST00000331837.4	37	c.607C>T	CCDS10014.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.855053	0.71719	.	.	ENSG00000182636	ENST00000331837	T	0.05319	3.46	3.22	3.22	0.36961	.	0.247548	0.39475	N	0.001349	T	0.07143	0.0181	N	0.08118	0	0.42351	D	0.992374	D	0.65815	0.995	P	0.56788	0.806	T	0.38308	-0.9667	10	0.87932	D	0	.	10.2293	0.43245	0.0:0.0:1.0:0.0	.	203	Q99608	NECD_HUMAN	C	203	ENSP00000332643:R203C	ENSP00000332643:R203C	R	-	1	0	NDN	21482851	0.999000	0.42202	0.994000	0.49952	0.980000	0.70556	1.800000	0.38833	2.114000	0.64651	0.561000	0.74099	CGC		0.662	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487	
CSPG4	1464	broad.mit.edu	37	15	75980642	75980642	+	Missense_Mutation	SNP	G	G	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr15:75980642G>T	ENST00000308508.5	-	3	2856	c.2764C>A	c.(2764-2766)Ctc>Atc	p.L922I		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	922	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.|Interaction with COL6A2. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TTGACAAAGAGGTGGTCAGCA	0.597																																						uc002baw.3																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(2764-2766)Ctc>Atc		Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.							78.0	78.0	78.0					15																	75980642		2197	4294	6491	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75980642G>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.2764C>A	15.37:g.75980642G>T	ENSP00000312506:p.Leu922Ile						p.L922I	NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN			2	2857	-			922			Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.2764C>A	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	22.8	4.336070	0.81801	.	.	ENSG00000173546	ENST00000308508	T	0.49720	0.77	5.02	5.02	0.67125	.	0.000000	0.64402	D	0.000006	T	0.67534	0.2903	M	0.78456	2.415	0.58432	D	0.999993	D	0.89917	1.0	D	0.83275	0.996	T	0.68911	-0.5284	10	0.45353	T	0.12	.	12.7904	0.57530	0.0817:0.0:0.9183:0.0	.	922	Q6UVK1	CSPG4_HUMAN	I	922	ENSP00000312506:L922I	ENSP00000312506:L922I	L	-	1	0	CSPG4	73767697	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.695000	0.74593	2.323000	0.78572	0.650000	0.86243	CTC		0.597	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897	
SYNM	23336	broad.mit.edu	37	15	99669677	99669677	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr15:99669677G>A	ENST00000560674.1	+	4	723	c.254G>A	c.(253-255)aGc>aAc	p.S85N	RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000336292.6_Missense_Mutation_p.S370N|SYNM_ENST00000328642.7_Missense_Mutation_p.S370N			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	371	Coil 1B.|Interaction with DMD and UTRN.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TTCAATCACAGCTCGGCACTG	0.463																																					Pancreas(125;1071 1762 21750 40003 40381)	uc002bup.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						c.(1108-1110)aGc>aAc		Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.							159.0	160.0	160.0					15																	99669677		1928	4143	6071	SO:0001583	missense	23336				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	g.chr15:99669677G>A	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.254G>A	15.37:g.99669677G>A	ENSP00000453040:p.Ser85Asn					SYNM_uc002buo.3_Missense_Mutation_p.S370N|SYNM_uc002buq.3_Intron	p.S370N	NM_145728	NP_663780	O15061	SYNEM_HUMAN			4	1229	+			371			Tail.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	ENST00000560674.1	37	c.1109G>A		.	.	.	.	.	.	.	.	.	.	G	9.445	1.089050	0.20390	.	.	ENSG00000182253	ENST00000336292;ENST00000328642	D;D	0.84146	-1.81;-1.78	3.63	1.32	0.21799	.	.	.	.	.	T	0.77274	0.4106	.	.	.	0.09310	N	1	B;P	0.41366	0.155;0.747	B;B	0.40375	0.096;0.327	T	0.68352	-0.5431	8	0.87932	D	0	.	2.952	0.05865	0.1859:0.0:0.567:0.2471	.	371;370	O15061;C9JIE4	SYNEM_HUMAN;.	N	370	ENSP00000336775:S370N;ENSP00000330469:S370N	ENSP00000330469:S370N	S	+	2	0	SYNM	97487200	0.123000	0.22298	0.000000	0.03702	0.004000	0.04260	1.745000	0.38278	0.338000	0.23692	0.585000	0.79938	AGC		0.463	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	NM_145728	
GRIN2A	2903	broad.mit.edu	37	16	9943739	9943739	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr16:9943739G>A	ENST00000396573.2	-	6	1511	c.1202C>T	c.(1201-1203)cCg>cTg	p.P401L	GRIN2A_ENST00000396575.2_Missense_Mutation_p.P401L|GRIN2A_ENST00000330684.3_Missense_Mutation_p.P401L|GRIN2A_ENST00000404927.2_Missense_Mutation_p.P401L|GRIN2A_ENST00000562109.1_Missense_Mutation_p.P401L|GRIN2A_ENST00000535259.1_Missense_Mutation_p.P244L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	401					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.P401Q(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTTGTCATCCGGCTCACAGTC	0.587																																						uc010uym.2																			1	Substitution - Missense(1)	p.P401Q(2)|p.P401P(1)	lung(1)	NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(1201-1203)cCg>cTg		Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						147.0	120.0	129.0					16																	9943739		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9943739G>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.1202C>T	16.37:g.9943739G>A	ENSP00000379818:p.Pro401Leu					GRIN2A_uc002czo.4_Missense_Mutation_p.P401L|GRIN2A_uc010uyn.2_Missense_Mutation_p.P244L|GRIN2A_uc002czr.4_Missense_Mutation_p.P401L	p.P401L	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN			5	1512	-			401					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.1202C>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.675400	0.47781	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.05258	3.47;3.47;3.47;3.47;3.47	5.22	5.22	0.72569	.	0.285219	0.39544	N	0.001337	T	0.05960	0.0155	N	0.22421	0.69	0.58432	D	0.999993	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.08055	0.003;0.001;0.002	T	0.43310	-0.9399	9	.	.	.	.	17.7785	0.88516	0.0:0.0:1.0:0.0	.	244;401;401	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	L	401;401;244;401;401	ENSP00000379818:P401L;ENSP00000385872:P401L;ENSP00000441572:P244L;ENSP00000332549:P401L;ENSP00000379820:P401L	.	P	-	2	0	GRIN2A	9851240	0.998000	0.40836	0.945000	0.38365	0.886000	0.51366	2.730000	0.47335	2.430000	0.82344	0.655000	0.94253	CCG		0.587	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3		
HYDIN	54768	broad.mit.edu	37	16	70866858	70866858	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr16:70866858C>T	ENST00000393567.2	-	80	13942	c.13792G>A	c.(13792-13794)Gtg>Atg	p.V4598M		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4598					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TCCTTTCCCACCTCGGTGGGA	0.493																																						uc002ezr.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(13789-13791)Gtg>Atg		Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.							7.0	6.0	7.0					16																	70866858		1758	3972	5730	SO:0001583	missense	54768							g.chr16:70866858C>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.13792G>A	16.37:g.70866858C>T	ENSP00000377197:p.Val4598Met					HYDIN_uc010cfy.3_Non-coding_Transcript	p.V4597M	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			79	13940	-		Ovarian(137;0.0654)	4598					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.13789G>A	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.378144	0.24944	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01126	5.3	4.62	-3.02	0.05446	.	0.841227	0.09387	U	0.809180	T	0.02455	0.0075	L	0.55743	1.74	0.80722	D	1	P	0.40553	0.721	P	0.51701	0.677	T	0.59979	-0.7352	10	0.33940	T	0.23	.	7.37	0.26796	0.0:0.1769:0.2352:0.5878	.	4597	F8WD23	.	M	4598;4597	ENSP00000377197:V4598M	ENSP00000313052:V4597M	V	-	1	0	HYDIN	69424359	0.994000	0.37717	0.976000	0.42696	0.220000	0.24768	0.225000	0.17757	-0.075000	0.12798	-0.291000	0.09656	GTG		0.493	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
PRDM7	11105	broad.mit.edu	37	16	90128375	90128375	+	Missense_Mutation	SNP	C	C	T	rs373371930		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr16:90128375C>T	ENST00000449207.2	-	7	855	c.836G>A	c.(835-837)cGa>cAa	p.R279Q	PRDM7_ENST00000407825.1_Missense_Mutation_p.R73Q|PRDM7_ENST00000325921.6_Missense_Mutation_p.R73Q	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	279	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TTCTGTAATTCGGCCCTCATA	0.547													.|||	1	0.000199681	0.0008	0.0	5008	,	,		20953	0.0		0.0	False		,,,				2504	0.0					uc010cje.3																			0				lung(2)|ovary(2)|stomach(1)	5						c.(835-837)cGa>cAa		Homo sapiens PR domain containing 7 (PRDM7), transcript variant 1, mRNA.		T	GLN/ARG,GLN/ARG	1,4395		0,1,2197	113.0	110.0	111.0		836,218	-0.4	0.2	16		111	0,8600		0,0,4300	no	missense,missense	PRDM7	NM_001098173.1,NM_052996.2	43,43	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	279/493,73/172	90128375	1,12995	2198	4300	6498	SO:0001583	missense	11105					chromosome|nucleus	nucleic acid binding	g.chr16:90128375C>T	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.836G>A	16.37:g.90128375C>T	ENSP00000396732:p.Arg279Gln					PRDM7_uc002fqo.3_Missense_Mutation_p.R73Q|PRDM7_uc010cjf.3_Missense_Mutation_p.R162Q|PRDM7_uc010cjg.1_Missense_Mutation_p.R73Q|PRDM7_uc010cjh.1_Non-coding_Transcript	p.R279Q	NM_001098173	NP_001091643	Q9NQW5	PRDM7_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	6	856	-		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	279			SET.		A4Q9G8|Q08EM4|Q9NQW4	Missense_Mutation	SNP	ENST00000449207.2	37	c.836G>A	CCDS45557.1	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.275732	0.00254	2.27E-4	0.0	ENSG00000126856	ENST00000325921;ENST00000449207;ENST00000407825	T;T;T	0.34472	1.36;1.36;1.36	1.96	-0.389	0.12455	SET domain (2);	.	.	.	.	T	0.11239	0.0274	N	0.02391	-0.57	0.19945	N	0.999941	B;B;B	0.28971	0.229;0.008;0.004	B;B;B	0.17979	0.02;0.002;0.003	T	0.27971	-1.0058	8	.	.	.	-10.1424	5.3464	0.16012	0.0:0.1892:0.0:0.8108	.	73;279;73	Q9NQW5-1;Q9NQW5;Q9NQW5-2	.;PRDM7_HUMAN;.	Q	73;279;73	ENSP00000315512:R73Q;ENSP00000396732:R279Q;ENSP00000385121:R73Q	.	R	-	2	0	PRDM7	88655876	0.717000	0.27966	0.226000	0.23910	0.003000	0.03518	1.354000	0.34056	-0.116000	0.11893	-1.139000	0.01908	CGA		0.547	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420560.1		
MYOCD	93649	broad.mit.edu	37	17	12626268	12626268	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr17:12626268G>A	ENST00000343344.4	+	5	358	c.358G>A	c.(358-360)Gag>Aag	p.E120K	MYOCD_ENST00000425538.1_Missense_Mutation_p.E120K|AC005358.1_ENST00000609971.1_Missense_Mutation_p.E24K|MYOCD_ENST00000395988.1_3'UTR			Q8IZQ8	MYCD_HUMAN	myocardin	120					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AGGGCCACTGGAGCTGGTGGA	0.468																																						uc002gno.2																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(358-360)Gag>Aag		Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.							135.0	138.0	137.0					17																	12626268		2203	4300	6503	SO:0001583	missense	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12626268G>A	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.358G>A	17.37:g.12626268G>A	ENSP00000341835:p.Glu120Lys					MYOCD_uc002gnn.2_Missense_Mutation_p.E120K|MYOCD_uc002gnp.1_Missense_Mutation_p.E24K	p.E120K	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	4	657	+			120					Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	c.358G>A	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737525	0.69304	.	.	ENSG00000141052	ENST00000425538;ENST00000343344;ENST00000395988	T	0.57436	0.4	5.33	4.34	0.51931	.	0.251697	0.38663	N	0.001602	T	0.49712	0.1573	M	0.64404	1.975	0.80722	D	1	B;B;B	0.27498	0.105;0.18;0.173	B;B;B	0.24006	0.05;0.02;0.045	T	0.55042	-0.8202	10	0.66056	D	0.02	-37.7438	13.4086	0.60929	0.0784:0.0:0.9216:0.0	.	24;120;120	Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;MYCD_HUMAN	K	120;120;24	ENSP00000341835:E120K	ENSP00000341835:E120K	E	+	1	0	MYOCD	12566993	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.651000	0.83577	2.771000	0.95319	0.561000	0.74099	GAG		0.468	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604	
CCL14	6358	broad.mit.edu	37	17	34311432	34311432	+	Missense_Mutation	SNP	G	G	A	rs372808751		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr17:34311432G>A	ENST00000394509.4	-	2	244	c.136C>T	c.(136-138)Cgt>Tgt	p.R46C	CCL14_ENST00000586216.1_Missense_Mutation_p.R46C|CTB-186H2.3_ENST00000593057.1_Intron|CTB-186H2.3_ENST00000591669.1_5'Flank|CCL16_ENST00000293275.3_5'Flank|CCL15-CCL14_ENST00000481427.2_3'UTR|CCL14_ENST00000536149.1_Missense_Mutation_p.R62C|CCL14_ENST00000480944.2_Missense_Mutation_p.R68C|CCL14_ENST00000435911.2_Missense_Mutation_p.R62C			Q16627	CCL14_HUMAN	chemokine (C-C motif) ligand 14	46					cell chemotaxis (GO:0060326)|cellular calcium ion homeostasis (GO:0006874)|immune response (GO:0006955)|positive regulation of cell proliferation (GO:0008284)	extracellular space (GO:0005615)				large_intestine(1)|lung(6)	7		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATCCGCTGACGCGGGATCTTG	0.552																																						uc010wcr.1																			0		p.P45R(1)		large_intestine(1)|lung(6)	7						c.(136-138)Cgt>Tgt		Homo sapiens chemokine (C-C motif) ligand 14 (CCL14), transcript variant 3, mRNA.							107.0	94.0	99.0					17																	34311432		2203	4300	6503	SO:0001583	missense	6358				cellular calcium ion homeostasis|immune response|positive regulation of cell proliferation	extracellular space	chemokine activity|signal transducer activity	g.chr17:34311432G>A	Z49270	CCDS32624.1, CCDS45652.1	17q11.2	2014-04-10	2002-08-22	2002-08-23	ENSG00000213494	ENSG00000276409		"""Chemokine ligands"", ""Endogenous ligands"""	10612	protein-coding gene	gene with protein product		601392	"""small inducible cytokine subfamily A (Cys-Cys), member 14"""	SCYA14		8661057	Standard	NM_032963		Approved	HCC-1, HCC-3, NCC-2, SCYL2, CKb1, MCIF	uc010wcq.1	Q16627	OTTHUMG00000188403	ENST00000394509.4:c.136C>T	17.37:g.34311432G>A	ENSP00000378017:p.Arg46Cys					CCL16_uc002hkl.3_5'Flank|CCL16_uc002hkm.3_5'Flank|CCL14_uc010wcq.1_Missense_Mutation_p.R62C|CCL14_uc002hkn.2_Non-coding_Transcript|CCL15_uc010wcs.2_Non-coding_Transcript|CCL15_uc010wct.2_Non-coding_Transcript|BC070118_uc002hkq.3_5'Flank	p.R46C	NM_032963	NP_116739	Q16627	CCL14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	1	215	-		Ovarian(249;0.17)	46					E1P649|E1P650|Q13954	Missense_Mutation	SNP	ENST00000394509.4	37	c.136C>T	CCDS32624.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.930111	0.34096	.	.	ENSG00000213494	ENST00000394509;ENST00000536149;ENST00000435911	T;T;T	0.05139	3.49;3.49;3.49	5.06	0.512	0.16994	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.848521	0.09515	U	0.791691	T	0.11580	0.0282	.	.	.	0.09310	N	1	D;D	0.76494	0.999;0.999	P;P	0.58928	0.848;0.764	T	0.29882	-0.9997	9	0.33940	T	0.23	.	4.4279	0.11513	0.1804:0.0:0.5084:0.3112	.	46;62	Q16627;Q16627-2	CCL14_HUMAN;.	C	46;62;62	ENSP00000378017:R46C;ENSP00000441771:R62C;ENSP00000409197:R62C	ENSP00000378017:R46C	R	-	1	0	CCL14	31335545	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.313000	0.19415	0.202000	0.20498	0.563000	0.77884	CGT		0.552	CCL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272892.2	NM_032962	
KRT38	8687	broad.mit.edu	37	17	39597030	39597030	+	Silent	SNP	G	G	A	rs369697357		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr17:39597030G>A	ENST00000246646.3	-	1	143	c.144C>T	c.(142-144)aaC>aaT	p.N48N		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	48	Head.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				CATGTGCCACGTTGGCCAAAA	0.632																																						uc002hwq.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29						c.(142-144)aaC>aaT		Homo sapiens keratin 38 (KRT38), mRNA.		G		2,4404	4.2+/-10.8	0,2,2201	48.0	50.0	50.0		144	-2.1	0.0	17		50	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	KRT38	NM_006771.3		0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308		48/457	39597030	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	8687					intermediate filament	structural molecule activity	g.chr17:39597030G>A	Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6456	protein-coding gene	gene with protein product		604542	"""keratin, hair, acidic, 8"""	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.144C>T	17.37:g.39597030G>A							p.N48N	NM_006771	NP_006762	O76015	KRT38_HUMAN			0	567	-		Breast(137;0.000496)	48			Head.		A2RRM5|Q6A164	Silent	SNP	ENST00000246646.3	37	c.144C>T	CCDS11392.1																																																																																				0.632	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771	
BPTF	2186	broad.mit.edu	37	17	65822381	65822383	+	In_Frame_Del	DEL	GAC	GAC	-	rs554343942	byFrequency	TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr17:65822381_65822383delGAC	ENST00000321892.4	+	1	602_604	c.541_543delGAC	c.(541-543)gacdel	p.D185del	BPTF_ENST00000306378.6_In_Frame_Del_p.D185del|BPTF_ENST00000335221.5_In_Frame_Del_p.D185del|BPTF_ENST00000424123.3_In_Frame_Del_p.D46del			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	185	Asp-rich.				anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GGAGATGGAAGACGACGACGACG	0.591																																						uc002jgf.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(541-543)gacdel		Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.																																				SO:0001651	inframe_deletion	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65822381_65822383delGAC	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.541_543delGAC	17.37:g.65822390_65822392delGAC	ENSP00000315454:p.Asp185del					BPTF_uc002jge.3_In_Frame_Del_p.D185del|BPTF_uc010wqm.1_In_Frame_Del_p.D185del	p.D185del	NM_182641	NP_872579	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		0	602_604	+	all_cancers(12;6e-11)		185			Asp-rich.		Q6NX67|Q7Z7D6|Q9UIG2	In_Frame_Del	DEL	ENST00000321892.4	37	c.541_543delGAC																																																																																					0.591	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459	
ABCA9	10350	broad.mit.edu	37	17	67041451	67041451	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr17:67041451C>T	ENST00000340001.4	-	4	542	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	ABCA9_ENST00000370732.2_Missense_Mutation_p.E111K|ABCA9_ENST00000453985.2_Missense_Mutation_p.E111K|ABCA9_ENST00000495634.1_Missense_Mutation_p.E111K	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	111					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ATGCTTTTTTCATCAGGCCAC	0.383																																						uc002jhu.3																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(331-333)Gaa>Aaa		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.							149.0	142.0	144.0					17																	67041451		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67041451C>T	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.331G>A	17.37:g.67041451C>T	ENSP00000342216:p.Glu111Lys					ABCA9_uc010dez.3_Missense_Mutation_p.E111K|ABCA9_uc002jhv.3_Missense_Mutation_p.E111K	p.E111K	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN			3	474	-	Breast(10;1.47e-12)		111					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.331G>A	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.085020	0.55861	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.88509	-2.39;-2.39	4.39	4.39	0.52855	.	0.610128	0.13548	U	0.379690	D	0.89591	0.6759	M	0.69358	2.11	0.29481	N	0.856348	B;B	0.27166	0.165;0.17	B;B	0.37833	0.121;0.259	D	0.85899	0.1433	10	0.49607	T	0.09	.	12.6291	0.56646	0.0:1.0:0.0:0.0	.	111;111	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	K	111;94;111;106	ENSP00000342216:E111K;ENSP00000359767:E111K	ENSP00000342216:E111K	E	-	1	0	ABCA9	64553046	0.996000	0.38824	0.937000	0.37676	0.874000	0.50279	1.331000	0.33793	2.426000	0.82243	0.591000	0.81541	GAA		0.383	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386	
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T	rs201788045		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358																																						uc010dln.3																			12	Substitution - Missense(12)	p.R477Q(24)	endometrium(4)|kidney(3)|urinary_tract(2)|prostate(2)|soft_tissue(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1429-1431)cGg>cAg		Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.							13.0	9.0	10.0					18																	14513764		683	1543	2226	SO:0001583	missense	388468							g.chr18:14513764C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1430G>A	18.37:g.14513764C>T	ENSP00000351856:p.Arg477Gln					POTEC_uc010xaj.2_Non-coding_Transcript	p.R477Q	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			9	1884	-			477						Missense_Mutation	SNP	ENST00000358970.5	37	c.1430G>A	CCDS45835.1	492	0.22527472527472528	61	0.12398373983739837	82	0.2265193370165746	187	0.3269230769230769	162	0.21372031662269128	c	0.001	-3.539655	0.00009	.	.	ENSG00000183206	ENST00000358970	T	0.20881	2.04	1.34	0.0657	0.14358	.	.	.	.	.	T	0.00012	0.0000	N	0.00116	-2.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42430	-0.9452	9	0.06757	T	0.87	.	3.4153	0.07373	0.0:0.2473:0.0:0.7527	.	477	B2RU33	POTEC_HUMAN	Q	477	ENSP00000351856:R477Q	ENSP00000351856:R477Q	R	-	2	0	POTEC	14503764	0.885000	0.30320	0.063000	0.19743	0.005000	0.04900	1.581000	0.36558	0.005000	0.14708	-1.615000	0.00797	CGG		0.358	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269	
CABYR	26256	broad.mit.edu	37	18	21735681	21735681	+	De_novo_Start_OutOfFrame	SNP	A	A	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr18:21735681A>T	ENST00000327201.6	+	0	39				CABYR_ENST00000399499.1_Missense_Mutation_p.E72D|CABYR_ENST00000399496.3_Missense_Mutation_p.E72D|CABYR_ENST00000581397.1_Missense_Mutation_p.E72D|CABYR_ENST00000415309.2_Missense_Mutation_p.E72D|CABYR_ENST00000399481.2_De_novo_Start_OutOfFrame	NM_138643.2	NP_619584.1	O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated						epithelial cilium movement (GO:0003351)|sperm capacitation (GO:0048240)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					AATGGTCAGAAGGAACGACAC	0.328																																						uc002kux.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11						c.(214-216)gaA>gaT		Homo sapiens calcium binding tyrosine-(Y)-phosphorylation regulated (CABYR), transcript variant 1, mRNA.							59.0	60.0	60.0					18																	21735681		2203	4300	6503			26256				ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding	g.chr18:21735681A>T	AF088868	CCDS11881.1, CCDS11882.1, CCDS11883.1, CCDS42420.1, CCDS45840.1	18q11.2	2009-08-06	2007-11-22		ENSG00000154040	ENSG00000154040			15569	protein-coding gene	gene with protein product	"""fibrousheathin 2"", ""cancer/testis antigen 88"""	612135				11820818, 17317841, 16139264	Standard	NM_012189		Approved	FSP-2, CBP86, CT88	uc002kux.3	O75952	OTTHUMG00000037365	ENST00000327201.6:c.-79A>T	18.37:g.21735681A>T						CABYR_uc021uig.1_Missense_Mutation_p.E54D|CABYR_uc010xbb.1_5'UTR|CABYR_uc002kuy.3_Missense_Mutation_p.E72D|CABYR_uc002kuz.3_Missense_Mutation_p.E72D|CABYR_uc002kva.3_Missense_Mutation_p.E54D|CABYR_uc002kvb.3_5'UTR|CABYR_uc002kvc.3_Missense_Mutation_p.E72D|CABYR_uc010dlw.3_Non-coding_Transcript	p.E72D	NM_012189	NP_036321	O75952	CABYR_HUMAN			3	368	+	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)		72					B2R857|Q8WXW5|Q9HAY3|Q9HAY4|Q9HAY5|Q9HCY9	Missense_Mutation	SNP	ENST00000327201.6	37	c.216A>T	CCDS11883.1	.	.	.	.	.	.	.	.	.	.	A	14.12	2.439862	0.43326	.	.	ENSG00000154040	ENST00000399496;ENST00000415309;ENST00000399499	T;T;T	0.51071	0.72;1.31;0.72	6.08	2.45	0.29901	.	0.101910	0.43747	D	0.000522	T	0.51702	0.1690	L	0.46157	1.445	0.80722	D	1	D;D;D;D	0.69078	0.985;0.997;0.994;0.982	P;P;D;P	0.63283	0.851;0.847;0.913;0.73	T	0.49952	-0.8884	10	0.62326	D	0.03	-14.2726	4.6031	0.12363	0.7046:0.0:0.1528:0.1426	.	54;72;72;72	O75952-2;O75952-4;O75952-3;O75952	.;.;.;CABYR_HUMAN	D	72	ENSP00000382419:E72D;ENSP00000399973:E72D;ENSP00000382421:E72D	ENSP00000382419:E72D	E	+	3	2	CABYR	19989679	1.000000	0.71417	0.998000	0.56505	0.447000	0.32167	0.697000	0.25556	0.526000	0.28541	0.533000	0.62120	GAA		0.328	CABYR-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254900.1	NM_153770	
MEP1B	4225	broad.mit.edu	37	18	29784271	29784271	+	Silent	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr18:29784271G>A	ENST00000269202.6	+	7	542	c.495G>A	c.(493-495)tcG>tcA	p.S165S	MEP1B_ENST00000581447.1_Silent_p.S165S	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	165	Metalloprotease.				digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ATGAGCAGTCGCGTTCTGACC	0.458																																						uc002kxj.4																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(493-495)tcG>tcA		Homo sapiens meprin A, beta (MEP1B), mRNA.							115.0	124.0	121.0					18																	29784271		1997	4174	6171	SO:0001819	synonymous_variant	4225				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr18:29784271G>A	X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.495G>A	18.37:g.29784271G>A							p.S165S	NM_005925	NP_005916	Q16820	MEP1B_HUMAN			6	542	+			165			Metalloprotease.		B7ZM35|B9EGL6|Q670J1	Silent	SNP	ENST00000269202.6	37	c.495G>A	CCDS45846.1																																																																																				0.458	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447755.1	NM_005925	
TNFRSF11A	8792	broad.mit.edu	37	18	60017106	60017106	+	Silent	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr18:60017106G>A	ENST00000586569.1	+	3	257	c.219G>A	c.(217-219)ccG>ccA	p.P73P	TNFRSF11A_ENST00000269485.7_Silent_p.P73P	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	73					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)	p.P73P(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				CCTGTGGCCCGGATGAATACT	0.423																																						uc002lin.3																			1	Substitution - coding silent(1)	p.P73P(2)	cervix(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29						c.(217-219)ccG>ccA		Homo sapiens tumor necrosis factor receptor superfamily, member 11a, NFKB activator (TNFRSF11A), mRNA.							192.0	182.0	185.0					18																	60017106		2203	4300	6503	SO:0001819	synonymous_variant	8792				adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	g.chr18:60017106G>A	AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11908	protein-coding gene	gene with protein product		603499	"""tumor necrosis factor receptor superfamily, member 11a, activator of NFKB"", ""Paget disease of bone 2"", ""loss of heterozygosity, 18, chromosomal region 1"""	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.219G>A	18.37:g.60017106G>A						TNFRSF11A_uc010dpv.3_Silent_p.P73P	p.P73P	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN			2	257	+		Colorectal(73;0.188)	73					I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Silent	SNP	ENST00000586569.1	37	c.219G>A	CCDS11980.1																																																																																				0.423	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256186.2		
HMHA1	23526	broad.mit.edu	37	19	1080969	1080969	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr19:1080969C>T	ENST00000313093.2	+	17	2327	c.2096C>T	c.(2095-2097)gCg>gTg	p.A699V	HMHA1_ENST00000539243.2_Missense_Mutation_p.A715V|HMHA1_ENST00000590577.1_Missense_Mutation_p.A334V|HMHA1_ENST00000590214.1_Missense_Mutation_p.A726V|HMHA1_ENST00000586866.1_Missense_Mutation_p.A703V|HMHA1_ENST00000543365.1_Missense_Mutation_p.A582V|HMHA1_ENST00000536472.1_Missense_Mutation_p.A567V	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	699					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGTCCAAGGCGGCCCGTACT	0.682																																						uc002lqz.1																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16						c.(2095-2097)gCg>gTg		Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA.							16.0	18.0	17.0					19																	1080969		2190	4290	6480	SO:0001583	missense	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1080969C>T	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.2096C>T	19.37:g.1080969C>T	ENSP00000316772:p.Ala699Val					HMHA1_uc010xgd.1_Missense_Mutation_p.A715V|HMHA1_uc010xge.1_Missense_Mutation_p.A567V|HMHA1_uc002lra.1_Missense_Mutation_p.A539V|HMHA1_uc002lrb.1_Missense_Mutation_p.A582V|HMHA1_uc002lrc.1_Missense_Mutation_p.A334V	p.A699V	NM_012292	NP_036424	Q92619	HMHA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	16	2327	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	699					B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	ENST00000313093.2	37	c.2096C>T	CCDS32863.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.343538	0.82022	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78	4.19	4.19	0.49359	.	0.000000	0.85682	D	0.000000	D	0.91737	0.7387	M	0.86651	2.83	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.997	D	0.93427	0.6782	10	0.87932	D	0	-19.3649	15.0595	0.71942	0.0:1.0:0.0:0.0	.	567;715;334;582;699	F5H4A3;F6QP70;B3KVA9;F5H1R4;Q92619	.;.;.;.;HMHA1_HUMAN	V	715;699;699;567;693;582	ENSP00000439601:A715V;ENSP00000316772:A699V;ENSP00000445109:A567V;ENSP00000438979:A582V	ENSP00000316772:A699V	A	+	2	0	HMHA1	1031969	1.000000	0.71417	0.913000	0.36048	0.259000	0.26198	5.491000	0.66887	1.871000	0.54225	0.491000	0.48974	GCG		0.682	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1		
RDH8	50700	broad.mit.edu	37	19	10131987	10131987	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr19:10131987C>T	ENST00000171214.1	+	5	842	c.593C>T	c.(592-594)gCg>gTg	p.A198V	RDH8_ENST00000591589.1_Missense_Mutation_p.A218V	NM_015725.2	NP_056540.2	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	198					estrogen biosynthetic process (GO:0006703)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid biosynthetic process (GO:0006694)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	AAGCTTCTGGCGCAGGTTTCT	0.602																																						uc002mmr.3																			0				endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21						c.(592-594)gCg>gTg		Homo sapiens retinol dehydrogenase 8 (all-trans) (RDH8), mRNA.	Vitamin A(DB00162)						82.0	78.0	80.0					19																	10131987		2203	4300	6503	SO:0001583	missense	50700				estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr19:10131987C>T	AF229845	CCDS12223.1, CCDS12223.2	19p13.2	2011-09-14				ENSG00000080511	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	14423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 28C, member 2"""	608575				10753906, 19027726	Standard	NM_015725		Approved	PRRDH, SDR28C2	uc002mmr.4	Q9NYR8		ENST00000171214.1:c.593C>T	19.37:g.10131987C>T	ENSP00000171214:p.Ala198Val						p.A198V	NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	Epithelial(33;4.24e-05)		4	842	+			198					Q9H838	Missense_Mutation	SNP	ENST00000171214.1	37	c.593C>T		.	.	.	.	.	.	.	.	.	.	C	14.75	2.627588	0.46944	.	.	ENSG00000080511	ENST00000171214	D	0.93076	-3.16	5.17	1.54	0.23209	NAD(P)-binding domain (1);	0.228496	0.43747	D	0.000533	D	0.87237	0.6127	L	0.38175	1.15	0.29073	N	0.883165	P	0.36315	0.547	B	0.32289	0.143	T	0.82051	-0.0649	10	0.39692	T	0.17	.	12.1111	0.53840	0.4104:0.5896:0.0:0.0	.	198	Q9NYR8	RDH8_HUMAN	V	198	ENSP00000171214:A198V	ENSP00000171214:A198V	A	+	2	0	RDH8	9992987	0.985000	0.35326	0.991000	0.47740	0.910000	0.53928	2.304000	0.43655	1.015000	0.39444	0.462000	0.41574	GCG		0.602	RDH8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			
CYP4F22	126410	broad.mit.edu	37	19	15651449	15651449	+	Missense_Mutation	SNP	G	G	A	rs146265982		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr19:15651449G>A	ENST00000269703.3	+	8	1059	c.860G>A	c.(859-861)cGt>cAt	p.R287H	CYP4F22_ENST00000601005.2_Missense_Mutation_p.R287H	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	287						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CGGGCACTGCGTCAGCAGGGG	0.632																																						uc002nbh.4																			0				endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						c.(859-861)cGt>cAt		Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA.							52.0	49.0	50.0					19																	15651449		2203	4300	6503	SO:0001583	missense	126410					endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr19:15651449G>A		CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954		"""Cytochrome P450s"""	26820	protein-coding gene	gene with protein product		611495				16436457	Standard	NM_173483		Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	ENST00000269703.3:c.860G>A	19.37:g.15651449G>A	ENSP00000269703:p.Arg287His						p.R287H	NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN			7	1027	+			287					Q8N8H4	Missense_Mutation	SNP	ENST00000269703.3	37	c.860G>A	CCDS12331.1	.	.	.	.	.	.	.	.	.	.	G	8.074	0.770824	0.15983	.	.	ENSG00000171954	ENST00000269703	T	0.69435	-0.4	5.39	-8.26	0.01021	.	0.837839	0.11097	N	0.600125	T	0.41811	0.1175	N	0.16790	0.44	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.26710	-1.0095	10	0.49607	T	0.09	.	8.7882	0.34835	0.628:0.2224:0.1495:0.0	.	287	Q6NT55	CP4FN_HUMAN	H	287	ENSP00000269703:R287H	ENSP00000269703:R287H	R	+	2	0	CYP4F22	15512449	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-1.885000	0.01620	-1.278000	0.02408	-0.476000	0.04901	CGT		0.632	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461338.2	NM_173483	
GTPBP3	84705	broad.mit.edu	37	19	17452117	17452117	+	Silent	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr19:17452117G>A	ENST00000324894.8	+	8	1307	c.1239G>A	c.(1237-1239)aaG>aaA	p.K413K	GTPBP3_ENST00000361619.5_Silent_p.K435K|GTPBP3_ENST00000358792.7_Silent_p.K445K|GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000600625.1_Silent_p.K392K	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	413	TrmE-type G.				tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						CGCTGAGGAAGGAGCTAGCTG	0.642																																						uc002ngg.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						c.(1333-1335)aaG>aaA		Homo sapiens GTP binding protein 3 (mitochondrial) (GTPBP3), nuclear gene encoding mitochondrial protein, transcript variant IV, mRNA.							18.0	21.0	20.0					19																	17452117		2201	4297	6498	SO:0001819	synonymous_variant	84705				tRNA modification	mitochondrion	GTP binding|GTPase activity	g.chr19:17452117G>A	AF360742	CCDS32950.1, CCDS32951.1, CCDS56088.1, CCDS59364.1	19p13.2	2008-02-05				ENSG00000130299			14880	protein-coding gene	gene with protein product		608536				1290633	Standard	NM_001128855		Approved	MSS1, THDF1, GTPBG3, MTGP1, FLJ14700	uc010xpo.2	Q969Y2		ENST00000324894.8:c.1239G>A	19.37:g.17452117G>A						GTPBP3_uc010xpo.2_Silent_p.K435K|GTPBP3_uc010eas.3_Silent_p.K413K|GTPBP3_uc002ngh.4_Silent_p.K392K	p.K445K	NM_133644	NP_598399	Q969Y2	GTPB3_HUMAN			6	1430	+			413					A6NFH1|A6NIG5|A6NKR4|A8K7B4|B7Z4V8|Q8TCY6|Q8WUW9|Q969G4|Q9BX61	Silent	SNP	ENST00000324894.8	37	c.1335G>A	CCDS32951.1																																																																																				0.642	GTPBP3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463624.1	NM_032620	
PGPEP1	54858	broad.mit.edu	37	19	18468321	18468321	+	Silent	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr19:18468321C>T	ENST00000269919.6	+	4	428	c.333C>T	c.(331-333)gaC>gaT	p.D111D	PGPEP1_ENST00000604499.2_Silent_p.D111D|PGPEP1_ENST00000252813.5_Silent_p.D34D|PGPEP1_ENST00000595066.1_Silent_p.D111D|PGPEP1_ENST00000597431.2_Intron	NM_017712.2	NP_060182.1	Q9NXJ5	PGPI_HUMAN	pyroglutamyl-peptidase I	111						cytosol (GO:0005829)	cysteine-type peptidase activity (GO:0008234)|pyroglutamyl-peptidase activity (GO:0016920)										GCGTGGAGGACGGGCCTGAAA	0.592																																						uc002nis.1																			0											c.(331-333)gaC>gaT		Homo sapiens pyroglutamyl-peptidase I (PGPEP1), mRNA.							133.0	83.0	100.0					19																	18468321		2203	4300	6503	SO:0001819	synonymous_variant	54858						cysteine-type peptidase activity	g.chr19:18468321C>T	AJ278828	CCDS12375.1, CCDS74314.1	19p13.11	2012-07-25				ENSG00000130517	3.4.19.3		13568	protein-coding gene	gene with protein product	"""pyroglutamyl aminopeptidase"""	610694					Standard	XM_006722783		Approved	PGP-I, Pcp, PGP, PGPI	uc002nis.1	Q9NXJ5		ENST00000269919.6:c.333C>T	19.37:g.18468321C>T						PGPEP1_uc002nir.1_Non-coding_Transcript|PGPEP1_uc002nit.1_Silent_p.D34D|PGPEP1_uc010xqg.1_Silent_p.D34D	p.D111D	NM_017712	NP_060182	Q9NXJ5	PGPI_HUMAN			3	417	+			111					A8K1Q3|Q8IVT1	Silent	SNP	ENST00000269919.6	37	c.333C>T	CCDS12375.1																																																																																				0.592	PGPEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466327.3	NM_017712	
ZNF599	148103	broad.mit.edu	37	19	35250777	35250777	+	Missense_Mutation	SNP	G	G	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr19:35250777G>T	ENST00000329285.8	-	4	1302	c.929C>A	c.(928-930)cCc>cAc	p.P310H		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	310					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GCATAAAAAGGGTTTTTCTCG	0.418																																						uc010edn.1																			0		p.K309N(1)		endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24						c.(928-930)cCc>cAc		Homo sapiens zinc finger protein 599 (ZNF599), mRNA.							98.0	108.0	105.0					19																	35250777		2203	4300	6503	SO:0001583	missense	148103				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35250777G>T	AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"""Zinc fingers, C2H2-type"", ""-"""	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.929C>A	19.37:g.35250777G>T	ENSP00000333802:p.Pro310His					ZNF599_uc010edm.2_Missense_Mutation_p.P273H	p.P310H	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		3	1317	-	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		310					Q569K0|Q5PRG1	Missense_Mutation	SNP	ENST00000329285.8	37	c.929C>A	CCDS32991.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.149413	0.37923	.	.	ENSG00000153896	ENST00000392231;ENST00000329285	T	0.17528	2.27	2.36	1.26	0.21427	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47116	0.1428	M	0.93854	3.465	0.40488	D	0.980516	D	0.89917	1.0	D	0.91635	0.999	T	0.54497	-0.8285	9	0.87932	D	0	.	8.9088	0.35541	0.0:0.2324:0.7675:0.0	.	310	Q96NL3	ZN599_HUMAN	H	309;310	ENSP00000333802:P310H	ENSP00000333802:P310H	P	-	2	0	ZNF599	39942617	0.996000	0.38824	0.974000	0.42286	0.965000	0.64279	2.594000	0.46189	0.528000	0.28580	0.491000	0.48974	CCC		0.418	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2	XM_086046	
CCDC8	83987	broad.mit.edu	37	19	46914658	46914658	+	Silent	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr19:46914658C>T	ENST00000307522.3	-	1	2183	c.1410G>A	c.(1408-1410)agG>agA	p.R470R		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	470					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		GTTTCCGGGCCCTGGCTCCTG	0.612																																						uc002pep.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1408-1410)agG>agA		Homo sapiens coiled-coil domain containing 8 (CCDC8), mRNA.							56.0	59.0	58.0					19																	46914658		2203	4300	6503	SO:0001819	synonymous_variant	83987					plasma membrane		g.chr19:46914658C>T	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25367	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 20"""	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.1410G>A	19.37:g.46914658C>T							p.R470R	NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	0	2262	-			470					Q8TB26	Silent	SNP	ENST00000307522.3	37	c.1410G>A	CCDS12685.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.337806	0.41398	.	.	ENSG00000169515	ENST00000540252	.	.	.	3.98	-2.05	0.07321	.	.	.	.	.	T	0.27933	0.0688	.	.	.	0.09310	N	0.999991	.	.	.	.	.	.	T	0.33343	-0.9872	5	0.21540	T	0.41	-10.9807	8.594	0.33703	0.0:0.4347:0.0:0.5653	.	.	.	.	E	317	.	ENSP00000441180:G317E	G	-	2	0	CCDC8	51606498	.	.	0.002000	0.10522	0.979000	0.70002	.	.	-0.223000	0.09943	0.555000	0.69702	GGG		0.612	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040	
ZNF534	147658	broad.mit.edu	37	19	52942354	52942354	+	Silent	SNP	A	A	G			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr19:52942354A>G	ENST00000332323.6	+	4	1741	c.1680A>G	c.(1678-1680)gaA>gaG	p.E560E	ZNF534_ENST00000433050.1_Silent_p.E547E|ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	560					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						ATACTGGAGAAAAGCCTTACA	0.433																																						uc002pzk.3																			0				central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						c.(1678-1680)gaA>gaG		Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.							86.0	82.0	83.0					19																	52942354		692	1591	2283	SO:0001819	synonymous_variant	147658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52942354A>G	AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.1680A>G	19.37:g.52942354A>G						ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Silent_p.E547E	p.E560E	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN			3	1747	+			560					Q76KX9	Silent	SNP	ENST00000332323.6	37	c.1680A>G	CCDS46165.1																																																																																				0.433	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	NM_182512	
LILRB1	10859	broad.mit.edu	37	19	55147969	55147969	+	Missense_Mutation	SNP	C	C	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr19:55147969C>A	ENST00000396331.1	+	15	2029	c.1672C>A	c.(1672-1674)Cag>Aag	p.Q558K	LILRB1_ENST00000396332.4_Missense_Mutation_p.Q559K|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_Missense_Mutation_p.Q558K|LILRB1_ENST00000434867.2_Missense_Mutation_p.Q558K|LILRB1_ENST00000418536.2_Missense_Mutation_p.Q542K|LILRB1_ENST00000324602.7_Missense_Mutation_p.Q560K|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000396327.3_Missense_Mutation_p.Q559K|LILRB1_ENST00000427581.2_Missense_Mutation_p.Q609K|LILRB1_ENST00000396315.1_Missense_Mutation_p.Q560K|LILRB1_ENST00000396317.1_Missense_Mutation_p.Q542K	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	558					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TGAAGACCCCCAGGCAGTGAC	0.572										HNSCC(37;0.09)																												uc002qgj.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(1672-1674)Cag>Aag		Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.							54.0	55.0	54.0					19																	55147969		2202	4297	6499	SO:0001583	missense	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55147969C>A	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1672C>A	19.37:g.55147969C>A	ENSP00000379622:p.Gln558Lys	HNSCC(37;0.09)				LILRB1_uc010erp.1_3'UTR|LILRB1_uc002qgl.3_Missense_Mutation_p.Q559K|LILRB1_uc002qgk.3_Missense_Mutation_p.Q559K|LILRB1_uc002qgm.3_Missense_Mutation_p.Q560K|LILRB1_uc010erq.3_Missense_Mutation_p.Q542K|LILRB1_uc010err.3_Non-coding_Transcript	p.Q558K	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	14	2012	+			558					A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.1672C>A	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	C	8.227	0.803838	0.16467	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T	0.00522	6.93;6.97;6.93;6.93;6.94;6.93;6.91;6.84;6.97;6.94	1.59	-0.76	0.11041	.	.	.	.	.	T	0.00815	0.0027	M	0.85945	2.785	0.09310	N	1	B;P;B;P;P	0.49559	0.048;0.763;0.146;0.925;0.651	B;B;B;P;B	0.47162	0.012;0.229;0.057;0.54;0.115	T	0.42515	-0.9447	9	0.87932	D	0	.	4.0265	0.09690	0.0:0.5587:0.0:0.4413	.	542;560;559;559;558	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	K	558;542;558;559;560;558;559;609;542;560	ENSP00000379614:Q558K;ENSP00000391514:Q542K;ENSP00000379622:Q558K;ENSP00000379618:Q559K;ENSP00000315997:Q560K;ENSP00000405243:Q558K;ENSP00000379623:Q559K;ENSP00000395004:Q609K;ENSP00000379610:Q542K;ENSP00000379608:Q560K	ENSP00000315997:Q560K	Q	+	1	0	LILRB1	59839781	0.003000	0.15002	0.001000	0.08648	0.042000	0.13812	0.316000	0.19469	-0.111000	0.12001	0.194000	0.17425	CAG		0.572	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4		
NLRP7	199713	broad.mit.edu	37	19	55451000	55451000	+	Missense_Mutation	SNP	C	C	T	rs375095148		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr19:55451000C>T	ENST00000590030.1	-	3	1227	c.1187G>A	c.(1186-1188)cGt>cAt	p.R396H	NLRP7_ENST00000588756.1_Missense_Mutation_p.R396H|NLRP7_ENST00000328092.5_Missense_Mutation_p.R396H|NLRP7_ENST00000592784.1_Missense_Mutation_p.R396H|NLRP7_ENST00000448121.2_Missense_Mutation_p.R396H|NLRP7_ENST00000340844.2_Missense_Mutation_p.R396H|NLRP7_ENST00000446217.1_Missense_Mutation_p.R424H			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	396	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GCAGAGGAAACGCAGGAACAG	0.706																																						uc002qih.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(1186-1188)cGt>cAt		Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.							7.0	8.0	8.0					19																	55451000		2037	4048	6085	SO:0001583	missense	199713						ATP binding	g.chr19:55451000C>T	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1187G>A	19.37:g.55451000C>T	ENSP00000465520:p.Arg396His					NLRP7_uc010esk.3_Missense_Mutation_p.R396H|NLRP7_uc002qig.4_Missense_Mutation_p.R396H|NLRP7_uc002qii.4_Missense_Mutation_p.R396H|NLRP7_uc010esl.3_Missense_Mutation_p.R424H	p.R396H	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	3	1263	-			396			NACHT.		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.1187G>A	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	7.503	0.653157	0.14580	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.71934	-0.55;-0.55;-0.61;-0.57	1.89	-1.54	0.08584	.	0.840893	0.09715	N	0.765148	T	0.34948	0.0915	N	0.02379	-0.575	0.09310	N	1	B;B;B;B	0.26775	0.099;0.099;0.099;0.159	B;B;B;B	0.20384	0.009;0.027;0.027;0.029	T	0.21280	-1.0250	10	0.13853	T	0.58	.	3.3583	0.07177	0.0:0.3292:0.2164:0.4544	.	424;396;396;396	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	H	396;396;396;424;163	ENSP00000329568:R396H;ENSP00000409137:R396H;ENSP00000339491:R396H;ENSP00000414273:R424H	ENSP00000329568:R396H	R	-	2	0	NLRP7	60142812	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.428000	0.21395	-0.361000	0.08125	-0.448000	0.05591	CGT		0.706	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176	
PUM2	23369	broad.mit.edu	37	2	20482930	20482930	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr2:20482930G>A	ENST00000361078.2	-	11	1520	c.1498C>T	c.(1498-1500)Cgg>Tgg	p.R500W	PUM2_ENST00000319801.5_Missense_Mutation_p.R500W|PUM2_ENST00000536417.1_Missense_Mutation_p.R444W|PUM2_ENST00000338086.5_Missense_Mutation_p.R500W|PUM2_ENST00000403432.1_Missense_Mutation_p.R500W			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	500					regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAATTGGCCGAAACAGACCA	0.453																																						uc002rds.1																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42						c.(1498-1500)Cgg>Tgg		Homo sapiens pumilio homolog 2 (Drosophila) (PUM2), mRNA.							68.0	72.0	70.0					2																	20482930		2203	4300	6503	SO:0001583	missense	23369				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	g.chr2:20482930G>A	AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.1498C>T	2.37:g.20482930G>A	ENSP00000354370:p.Arg500Trp					PUM2_uc002rdt.1_Missense_Mutation_p.R500W|PUM2_uc002rdr.2_Missense_Mutation_p.R439W|PUM2_uc010yjy.1_Missense_Mutation_p.R500W|PUM2_uc002rdu.1_Missense_Mutation_p.R500W|PUM2_uc010yjz.1_Missense_Mutation_p.R439W	p.R500W	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN			10	1516	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		500					B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	ENST00000361078.2	37	c.1498C>T		.	.	.	.	.	.	.	.	.	.	G	20.4	3.980274	0.74474	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417	T;T;T;T;T;T	0.20598	2.07;2.35;2.31;2.06;2.07;2.06	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.44582	0.1300	L	0.61218	1.895	0.58432	D	0.999997	D;D;D	0.89917	1.0;0.99;1.0	D;B;D	0.87578	0.998;0.432;0.998	T	0.12268	-1.0554	10	0.52906	T	0.07	-13.0607	15.2954	0.73902	0.0:0.0:0.86:0.1399	.	444;500;500	B4E2B6;B7ZL34;Q8TB72-3	.;.;.	W	500;500;500;391;500;444	ENSP00000338173:R500W;ENSP00000354370:R500W;ENSP00000326746:R500W;ENSP00000409905:R391W;ENSP00000385992:R500W;ENSP00000440093:R444W	ENSP00000326746:R500W	R	-	1	2	PUM2	20346411	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	5.258000	0.65479	2.868000	0.98415	0.555000	0.69702	CGG		0.453	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015317	
QPCT	25797	broad.mit.edu	37	2	37599531	37599531	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr2:37599531G>A	ENST00000338415.3	+	6	1014	c.856G>A	c.(856-858)Gat>Aat	p.D286N	QPCT_ENST00000537448.1_Missense_Mutation_p.D237N	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	286					cellular protein modification process (GO:0006464)|peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	extracellular vesicular exosome (GO:0070062)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				TTTGCTCAAGGATCACTCTTT	0.358																																						uc002rqg.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17						c.(856-858)Gat>Aat		Homo sapiens glutaminyl-peptide cyclotransferase (QPCT), mRNA.							191.0	188.0	189.0					2																	37599531		2203	4300	6503	SO:0001583	missense	25797				peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding	g.chr2:37599531G>A	X71125	CCDS1790.1	2p22	2008-07-31	2008-07-31		ENSG00000115828	ENSG00000115828	2.3.2.5		9753	protein-coding gene	gene with protein product	"""glutaminyl cyclase"""	607065				7999256	Standard	NM_012413		Approved	QC, GCT	uc002rqg.3	Q16769	OTTHUMG00000100963	ENST00000338415.3:c.856G>A	2.37:g.37599531G>A	ENSP00000344829:p.Asp286Asn						p.D286N	NM_012413	NP_036545	Q16769	QPCT_HUMAN			5	978	+		Ovarian(717;0.051)|all_hematologic(82;0.21)	286					Q16770|Q3KRG6|Q53TR4	Missense_Mutation	SNP	ENST00000338415.3	37	c.856G>A	CCDS1790.1	.	.	.	.	.	.	.	.	.	.	G	9.041	0.989780	0.18966	.	.	ENSG00000115828	ENST00000338415;ENST00000404976;ENST00000537448;ENST00000444022	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.42	3.6	0.41247	Peptidase M28 (1);	0.217310	0.49305	D	0.000146	T	0.25827	0.0629	N	0.13140	0.3	0.39831	D	0.972979	B;B	0.11235	0.001;0.004	B;B	0.16722	0.006;0.016	T	0.08126	-1.0737	10	0.22706	T	0.39	-3.9328	5.8776	0.18838	0.3072:0.0:0.6928:0.0	.	237;286	Q16769-2;Q16769	.;QPCT_HUMAN	N	286;237;237;51	ENSP00000344829:D286N;ENSP00000385391:D237N;ENSP00000441606:D237N;ENSP00000389227:D51N	ENSP00000344829:D286N	D	+	1	0	QPCT	37453035	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.174000	0.42482	1.415000	0.47037	0.655000	0.94253	GAT		0.358	QPCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218572.2		
SLC5A7	60482	broad.mit.edu	37	2	108614387	108614387	+	Missense_Mutation	SNP	T	T	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr2:108614387T>A	ENST00000264047.2	+	5	818	c.542T>A	c.(541-543)cTc>cAc	p.L181H	SLC5A7_ENST00000409059.1_Missense_Mutation_p.L181H|SLC5A7_ENST00000540517.1_Missense_Mutation_p.L76H	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	181					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GTGGGAGGGCTCTATTCTGTG	0.473																																						uc002tdv.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(541-543)cTc>cAc		Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	Choline(DB00122)						257.0	225.0	236.0					2																	108614387		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108614387T>A	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.542T>A	2.37:g.108614387T>A	ENSP00000264047:p.Leu181His					SLC5A7_uc010ywm.2_5'UTR|SLC5A7_uc010fjj.3_Missense_Mutation_p.L181H|SLC5A7_uc010ywn.2_Missense_Mutation_p.L68H	p.L181H	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN			4	818	+			181					Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.542T>A	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.580456	0.86645	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.91686	-2.89;-2.89;-2.89	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.96898	0.8987	M	0.92833	3.35	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.97898	1.0301	10	0.87932	D	0	-40.3761	15.1377	0.72583	0.0:0.0:0.0:1.0	.	181	Q9GZV3	SC5A7_HUMAN	H	181;76;181	ENSP00000387346:L181H;ENSP00000445351:L76H;ENSP00000264047:L181H	ENSP00000264047:L181H	L	+	2	0	SLC5A7	107980819	1.000000	0.71417	0.987000	0.45799	0.912000	0.54170	8.040000	0.89188	1.984000	0.57885	0.533000	0.62120	CTC		0.473	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1		
CNTNAP5	129684	broad.mit.edu	37	2	125530385	125530385	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr2:125530385A>G	ENST00000431078.1	+	17	2904	c.2540A>G	c.(2539-2541)gAg>gGg	p.E847G		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	847	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCTCCTTCAGAGATCACCTTT	0.488																																						uc010flu.3																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(2542-2544)gAg>gGg		Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.							149.0	137.0	141.0					2																	125530385		1933	4129	6062	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125530385A>G	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2540A>G	2.37:g.125530385A>G	ENSP00000399013:p.Glu847Gly					CNTNAP5_uc002tno.3_Missense_Mutation_p.E847G	p.E848G	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	16	2907	+			847			Laminin G-like 3.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.2543A>G	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	a	19.02	3.746205	0.69418	.	.	ENSG00000155052	ENST00000431078	T	0.39056	1.1	5.49	5.49	0.81192	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.47852	D	0.000215	T	0.68256	0.2981	M	0.88181	2.935	0.39061	D	0.960536	D	0.76494	0.999	D	0.71414	0.973	T	0.73820	-0.3862	10	0.37606	T	0.19	.	14.7806	0.69764	1.0:0.0:0.0:0.0	.	847	Q8WYK1	CNTP5_HUMAN	G	847	ENSP00000399013:E847G	ENSP00000399013:E847G	E	+	2	0	CNTNAP5	125246855	1.000000	0.71417	0.993000	0.49108	0.746000	0.42486	2.984000	0.49353	2.096000	0.63516	0.524000	0.50904	GAG		0.488	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		
SCN7A	6332	broad.mit.edu	37	2	167273364	167273364	+	Silent	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr2:167273364G>A	ENST00000409855.1	-	20	3393	c.3267C>T	c.(3265-3267)gaC>gaT	p.D1089D		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1089					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	CACTTGTTGGGTCAATGCATT	0.398																																						uc002udu.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(3265-3267)gaC>gaT		Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.							107.0	94.0	98.0					2																	167273364		1887	4113	6000	SO:0001819	synonymous_variant	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167273364G>A	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.3267C>T	2.37:g.167273364G>A						SCN7A_uc010fpm.2_Non-coding_Transcript	p.D1089D	NM_002976	NP_002967	Q01118	SCN7A_HUMAN			19	3397	-			1089						Silent	SNP	ENST00000409855.1	37	c.3267C>T	CCDS46442.1																																																																																				0.398	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1		
TTN	7273	broad.mit.edu	37	2	179453519	179453519	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr2:179453519T>C	ENST00000591111.1	-	254	58234	c.58010A>G	c.(58009-58011)gAa>gGa	p.E19337G	TTN_ENST00000589042.1_Missense_Mutation_p.E20978G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E12105G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E18410G|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E12038G|TTN_ENST00000460472.2_Missense_Mutation_p.E11913G|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19337	Fibronectin type-III 40. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			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)			AGTCATCTCTTCTTTGCTTAC	0.438																																						uc021vsy.1																			0		p.T18410fs*15(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(55228-55230)gAa>gGa		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							87.0	83.0	85.0					2																	179453519		1898	4108	6006	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179453519T>C	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.58010A>G	2.37:g.179453519T>C	ENSP00000465570:p.Glu19337Gly					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E12105G|TTN_uc021vta.1_Missense_Mutation_p.E12038G|TTN_uc021vtb.1_Missense_Mutation_p.E11913G	p.E18410G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		252	55454	-			19337			Fibronectin type-III 33.		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.55229A>G		.	.	.	.	.	.	.	.	.	.	T	13.92	2.382107	0.42207	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	6.16	6.16	0.99307	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.56963	0.2021	N	0.21508	0.67	0.80722	D	1	D;D;D;D	0.56968	0.978;0.978;0.978;0.978	P;P;P;P	0.57911	0.829;0.829;0.829;0.829	T	0.61594	-0.7031	9	0.87932	D	0	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	11913;12038;12105;19337	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	G	18410;11913;12105;12038;11911	ENSP00000343764:E18410G;ENSP00000434586:E11913G;ENSP00000340554:E12105G;ENSP00000352154:E12038G	ENSP00000340554:E12105G	E	-	2	0	TTN	179161765	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.991000	0.88244	2.367000	0.80283	0.528000	0.53228	GAA		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179522849	179522849	+	Intron	SNP	T	T	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr2:179522849T>A	ENST00000591111.1	-	154	34579				TTN_ENST00000589042.1_Missense_Mutation_p.I12583F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin						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)			GCCACGGGAATTTCTTTTTCT	0.413																																						uc021vsy.1																			0				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								Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							75.0	80.0	79.0					2																	179522849		840	1986	2826	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179522849T>A	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.34354+582A>T	2.37:g.179522849T>A						MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_Missense_Mutation_p.I675F		NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)				-								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			.	.	.	.	.	.	.	.	.	.	t	3.884	-0.025321	0.07589	.	.	ENSG00000155657	ENST00000541862	.	.	.	3.34	-1.69	0.08186	.	.	.	.	.	T	0.26484	0.0647	.	.	.	0.09310	N	0.999999	B	0.29432	0.244	B	0.23018	0.043	T	0.16600	-1.0397	7	0.51188	T	0.08	.	6.5327	0.22336	0.0:0.5953:0.1434:0.2613	.	803	Q71S18	.	F	803	.	ENSP00000445986:I803F	I	-	1	0	TTN	179231094	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-2.668000	0.00845	-0.216000	0.10048	0.338000	0.21704	ATT		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
STAT1	6772	broad.mit.edu	37	2	191862990	191862990	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr2:191862990G>A	ENST00000361099.3	-	8	973	c.586C>T	c.(586-588)Cag>Tag	p.Q196*	STAT1_ENST00000392322.3_Nonsense_Mutation_p.Q196*|STAT1_ENST00000540176.1_Intron|STAT1_ENST00000409465.1_Nonsense_Mutation_p.Q196*|STAT1_ENST00000392323.2_Nonsense_Mutation_p.Q198*	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	196					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			AGTAACAGCTGTTCTTGTTTC	0.343																																						uc010fse.2																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(586-588)Cag>Tag		Homo sapiens signal transducer and activator of transcription 1, 91kDa (STAT1), transcript variant alpha, mRNA.	Fludarabine(DB01073)						171.0	164.0	167.0					2																	191862990		2202	4299	6501	SO:0001587	stop_gained	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191862990G>A		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.586C>T	2.37:g.191862990G>A	ENSP00000354394:p.Gln196*					STAT1_uc021vue.1_Intron|STAT1_uc002usj.2_Nonsense_Mutation_p.Q196*|STAT1_uc002usk.2_Nonsense_Mutation_p.Q196*|STAT1_uc002usl.2_Nonsense_Mutation_p.Q198*|STAT1_uc010fsf.1_Intron	p.Q196*	NM_007315	NP_009330	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		6	1018	-			196					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Nonsense_Mutation	SNP	ENST00000361099.3	37	c.586C>T	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021814	0.93462	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323;ENST00000544783	.	.	.	4.59	1.5	0.22942	.	0.266345	0.41294	D	0.000916	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-15.295	9.6072	0.39641	0.0:0.1141:0.4629:0.423	.	.	.	.	X	196;196;196;198;104	.	ENSP00000354394:Q196X	Q	-	1	0	STAT1	191571235	0.986000	0.35501	0.921000	0.36526	0.063000	0.16089	1.332000	0.33805	0.627000	0.30340	-0.182000	0.12963	CAG		0.343	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315	
STAT4	6775	broad.mit.edu	37	2	191926501	191926501	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr2:191926501T>C	ENST00000392320.2	-	10	1302	c.988A>G	c.(988-990)Agg>Ggg	p.R330G	STAT4_ENST00000358470.4_Missense_Mutation_p.R330G	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	330					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			ACCAACGGCCTCTGAGGGTGG	0.403																																						uc002usm.2																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(988-990)Agg>Ggg		Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.							229.0	240.0	236.0					2																	191926501		2203	4300	6503	SO:0001583	missense	6775				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191926501T>C		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.988A>G	2.37:g.191926501T>C	ENSP00000376134:p.Arg330Gly					STAT4_uc002usn.2_Missense_Mutation_p.R330G|STAT4_uc010zgk.1_Missense_Mutation_p.R175G|STAT4_uc002uso.2_Missense_Mutation_p.R330G	p.R330G	NM_003151	NP_003142	Q14765	STAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		9	1303	-			330					Q96NZ6	Missense_Mutation	SNP	ENST00000392320.2	37	c.988A>G	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	T	19.07	3.756094	0.69648	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	D;D	0.91740	-2.9;-2.9	5.56	5.56	0.83823	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.050653	0.85682	D	0.000000	D	0.93684	0.7982	L	0.56124	1.755	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.997	D;D;D	0.64144	0.922;0.922;0.922	D	0.93113	0.6518	10	0.44086	T	0.13	-15.4803	11.668	0.51385	0.0:0.0:0.148:0.852	.	239;330;330	Q53S87;B4DV04;Q14765	.;.;STAT4_HUMAN	G	330	ENSP00000351255:R330G;ENSP00000376134:R330G	ENSP00000351255:R330G	R	-	1	2	STAT4	191634746	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.558000	0.60789	2.115000	0.64714	0.477000	0.44152	AGG		0.403	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151	
SPHKAP	80309	broad.mit.edu	37	2	228883868	228883868	+	Missense_Mutation	SNP	C	C	T	rs149295795	byFrequency	TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr2:228883868C>T	ENST00000392056.3	-	7	1748	c.1702G>A	c.(1702-1704)Gtg>Atg	p.V568M	SPHKAP_ENST00000344657.5_Missense_Mutation_p.V568M	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	568						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CAGACAGCCACGGCACTGGCC	0.562													C|||	9	0.00179712	0.0	0.0	5008	,	,		21277	0.0079		0.0	False		,,,				2504	0.001					uc002vpq.2																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(1702-1704)Gtg>Atg		Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.		C	MET/VAL,MET/VAL	0,4406		0,0,2203	108.0	99.0	102.0		1702,1702	1.7	0.0	2	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	SPHKAP	NM_001142644.1,NM_030623.3	21,21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	568/1701,568/1672	228883868	1,13005	2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228883868C>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1702G>A	2.37:g.228883868C>T	ENSP00000375909:p.Val568Met					SPHKAP_uc002vpp.2_Missense_Mutation_p.V568M|SPHKAP_uc010zlx.1_Missense_Mutation_p.V568M	p.V568M	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	6	1749	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	568					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.1702G>A	CCDS46537.1	7	0.003205128205128205	0	0.0	0	0.0	7	0.012237762237762238	0	0.0	C	16.30	3.084153	0.55861	0.0	1.16E-4	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.51817	0.69;0.69	5.84	1.68	0.24146	.	0.177941	0.48286	D	0.000184	T	0.53174	0.1780	M	0.68952	2.095	0.38794	D	0.955041	D;D	0.89917	0.999;1.0	P;D	0.71656	0.839;0.974	T	0.59500	-0.7443	10	0.87932	D	0	.	9.4747	0.38864	0.0:0.6905:0.0:0.3095	.	568;568	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	M	568	ENSP00000375909:V568M;ENSP00000339886:V568M	ENSP00000339886:V568M	V	-	1	0	SPHKAP	228592112	0.989000	0.36119	0.003000	0.11579	0.862000	0.49288	2.852000	0.48310	0.004000	0.14682	-0.140000	0.14226	GTG		0.562	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623	
PHF20	51230	broad.mit.edu	37	20	34526877	34526877	+	Silent	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr20:34526877G>A	ENST00000374012.3	+	16	2688	c.2559G>A	c.(2557-2559)caG>caA	p.Q853Q	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	853					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					CCGTGGAGCAGAAGCTGGTGG	0.647																																						uc002xek.1																			0				breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2557-2559)caG>caA		Homo sapiens PHD finger protein 20 (PHF20), mRNA.							53.0	47.0	49.0					20																	34526877		2203	4300	6503	SO:0001819	synonymous_variant	51230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	g.chr20:34526877G>A	AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	16098	protein-coding gene	gene with protein product	"""tudor domain containing 20A"""	610335	"""chromosome 20 open reading frame 104"""	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.2559G>A	20.37:g.34526877G>A							p.Q853Q	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN			15	2670	+	Breast(12;0.00631)|all_lung(11;0.0145)		853					A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Silent	SNP	ENST00000374012.3	37	c.2559G>A	CCDS13268.1																																																																																				0.647	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436	
SEMG1	6406	broad.mit.edu	37	20	43836560	43836560	+	Missense_Mutation	SNP	C	C	T	rs141417035		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr20:43836560C>T	ENST00000372781.3	+	2	679	c.622C>T	c.(622-624)Cgt>Tgt	p.R208C	SEMG1_ENST00000244069.6_Missense_Mutation_p.R208C	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	208	Interaction with EPPIN.|Repeat-rich region. {ECO:0000250}.				insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CAAACAACAACGTGAGACTAA	0.403													C|||	1	0.000199681	0.0	0.0	5008	,	,		23434	0.001		0.0	False		,,,				2504	0.0					uc010ggz.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36								Homo sapiens semenogelin II (SEMG2), mRNA.							88.0	79.0	82.0					20																	43836560		2203	4300	6503	SO:0001583	missense	6406				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43836560C>T		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"""semen coagulating protein"", ""cancer/testis antigen 103"""	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.622C>T	20.37:g.43836560C>T	ENSP00000361867:p.Arg208Cys					SEMG2_uc002xni.2_Missense_Mutation_p.R208C|SEMG2_uc002xnj.2_Missense_Mutation_p.R208C		NM_003008	NP_002999	Q02383	SEMG2_HUMAN					+		Myeloproliferative disorder(115;0.0122)						Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Missense_Mutation	SNP	ENST00000372781.3	37		CCDS13345.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	9.753	1.168041	0.21621	.	.	ENSG00000124233	ENST00000244069;ENST00000372781	T;T	0.11385	2.78;2.78	1.17	-2.34	0.06704	.	.	.	.	.	T	0.20129	0.0484	L	0.51422	1.61	0.09310	N	1	D;D;D	0.89917	0.998;1.0;0.999	P;D;P	0.68483	0.804;0.958;0.877	T	0.09314	-1.0680	9	0.59425	D	0.04	.	6.5402	0.22377	0.3334:0.6666:0.0:0.0	.	208;208;208	P04279-2;P04279;E7EPD3	.;SEMG1_HUMAN;.	C	208	ENSP00000244069:R208C;ENSP00000361867:R208C	ENSP00000244069:R208C	R	+	1	0	SEMG1	43269974	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.036000	0.12185	-1.326000	0.02266	-0.602000	0.04101	CGT		0.403	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007	
ADAMTS1	9510	broad.mit.edu	37	21	28217207	28217207	+	Silent	SNP	G	G	T	rs201167243		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr21:28217207G>T	ENST00000284984.3	-	1	521	c.67C>A	c.(67-69)Cgg>Agg	p.R23R		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	23					heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		CCCGGAGCCCGCTCCGCGTTC	0.711											OREG0026151	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ymf.3																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42						c.(67-69)Cgg>Agg		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 1 (ADAMTS1), mRNA.							9.0	12.0	11.0					21																	28217207		2135	4150	6285	SO:0001819	synonymous_variant	9510				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	g.chr21:28217207G>T	AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.67C>A	21.37:g.28217207G>T			OREG0026151	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	800		p.R23R	NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN		Lung(58;0.215)	0	522	-		Breast(209;0.000962)	23					D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Silent	SNP	ENST00000284984.3	37	c.67C>A	CCDS33524.1																																																																																				0.711	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2		
LTN1	26046	broad.mit.edu	37	21	30359239	30359239	+	Missense_Mutation	SNP	C	C	T	rs375416726		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr21:30359239C>T	ENST00000361371.5	-	2	138	c.59G>A	c.(58-60)cGa>cAa	p.R20Q	LTN1_ENST00000389194.2_Missense_Mutation_p.R66Q|LTN1_ENST00000389195.2_Missense_Mutation_p.R66Q			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	20					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TTCTGCAGCTCGGCCACTGTT	0.433																																						uc002ymr.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						c.(196-198)cGa>cAa		Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA.		C	GLN/ARG	0,4406		0,0,2203	41.0	41.0	41.0		197	4.6	1.0	21		41	2,8598	2.2+/-6.3	0,2,4298	no	missense	LTN1	NM_015565.2	43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	66/1813	30359239	2,13004	2203	4300	6503	SO:0001583	missense	26046						ligase activity|zinc ion binding	g.chr21:30359239C>T	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.59G>A	21.37:g.30359239C>T	ENSP00000354977:p.Arg20Gln					LTN1_uc010gll.1_Non-coding_Transcript	p.R66Q	NM_015565	NP_056380	O94822	LTN1_HUMAN			1	210	-			20					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37	c.197G>A		.	.	.	.	.	.	.	.	.	.	C	33	5.221331	0.95139	0.0	2.33E-4	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000446611;ENST00000389195	T;T;T	0.28666	1.95;1.96;1.6	4.56	4.56	0.56223	.	0.000000	0.64402	D	0.000004	T	0.59473	0.2196	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.64901	-0.6298	10	0.51188	T	0.08	.	17.5386	0.87841	0.0:1.0:0.0:0.0	.	20	O94822	LTN1_HUMAN	Q	66;20;20;66	ENSP00000373846:R66Q;ENSP00000354977:R20Q;ENSP00000373847:R66Q	ENSP00000354977:R20Q	R	-	2	0	LTN1	29281110	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.487000	0.60293	2.372000	0.80975	0.561000	0.74099	CGA		0.433	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565	
NHP2L1	4809	broad.mit.edu	37	22	42071074	42071074	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr22:42071074G>A	ENST00000401959.1	-	4	566	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	NHP2L1_ENST00000402458.1_Missense_Mutation_p.R88C|NHP2L1_ENST00000355257.3_Missense_Mutation_p.R84C|NHP2L1_ENST00000215956.5_Missense_Mutation_p.R84C|NHP2L1_ENST00000463675.1_5'UTR	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	84					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ribosome biogenesis (GO:0042254)|RNA splicing (GO:0008380)	box C/D snoRNP complex (GO:0031428)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						TGCTTGGAGCGCACAAACACG	0.577																																						uc003bav.3																			0				endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						c.(250-252)Cgc>Tgc		Homo sapiens NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae) (NHP2L1), transcript variant 2, mRNA.							83.0	76.0	79.0					22																	42071074		2203	4300	6503	SO:0001583	missense	4809				nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	protein binding|RNA binding	g.chr22:42071074G>A		CCDS14022.1, CCDS33653.1	22q13	2009-01-06	2001-11-28		ENSG00000100138	ENSG00000100138			7819	protein-coding gene	gene with protein product	"""small nuclear ribonucleoprotein 15.5kDa (U4/U6.U5)"""	601304	"""non-histone chromosome protein 2 (S. cerevisiae)-like 1"", ""sperm specific antigen 1"""	SSFA1		8978773	Standard	NM_005008		Approved	SNU13, FA-1, SPAG12, SNRNP15-5, 15.5K	uc003bav.3	P55769	OTTHUMG00000151189	ENST00000401959.1:c.250C>T	22.37:g.42071074G>A	ENSP00000383949:p.Arg84Cys					NHP2L1_uc003bat.3_Missense_Mutation_p.R84C	p.R84C	NM_001003796	NP_004999	P55769	NH2L1_HUMAN			2	363	-			84						Missense_Mutation	SNP	ENST00000401959.1	37	c.250C>T	CCDS14022.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089824	0.55968	.	.	ENSG00000100138	ENST00000355257;ENST00000215956;ENST00000401959;ENST00000402458	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.34	4.33	0.51752	Ribosomal protein L7Ae conserved site (1);Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.046546	0.85682	D	0.000000	T	0.49575	0.1565	L	0.58428	1.81	0.80722	D	1	B	0.25667	0.131	B	0.17722	0.019	T	0.53443	-0.8438	10	0.87932	D	0	.	14.2921	0.66286	0.072:0.0:0.928:0.0	.	84	P55769	NH2L1_HUMAN	C	84;84;84;88	ENSP00000347401:R84C;ENSP00000215956:R84C;ENSP00000383949:R84C;ENSP00000383989:R88C	ENSP00000215956:R84C	R	-	1	0	NHP2L1	40401020	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	7.467000	0.80930	1.400000	0.46741	-0.229000	0.12294	CGC		0.577	NHP2L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321682.1	NM_001003796	
EFCAB6	64800	broad.mit.edu	37	22	43933388	43933388	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr22:43933388G>A	ENST00000262726.7	-	29	4170	c.3917C>T	c.(3916-3918)cCc>cTc	p.P1306L	EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_Missense_Mutation_p.P1154L|EFCAB6-AS1_ENST00000431327.3_RNA	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1306	Interaction with PARK7.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GTTCTGCAAGGGTGGAGTGCC	0.517																																						uc003bdy.2																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(3916-3918)cCc>cTc		Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.							66.0	67.0	66.0					22																	43933388		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:43933388G>A	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.3917C>T	22.37:g.43933388G>A	ENSP00000262726:p.Pro1306Leu					EFCAB6_uc003bdz.2_Missense_Mutation_p.P1154L|EFCAB6_uc010gzi.2_Missense_Mutation_p.P1154L	p.P1306L	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN			28	4231	-		Ovarian(80;0.0247)|all_neural(38;0.025)	1306			Interaction with PARK7.		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.3917C>T	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.955455	0.73902	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.24538	1.87;1.85	4.71	4.71	0.59529	EF-hand calcium-binding domain-containing protein 6 (1);	0.170736	0.37095	N	0.002256	T	0.49932	0.1586	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.49934	-0.8886	10	0.45353	T	0.12	-6.6055	15.4299	0.75084	0.0:0.0:1.0:0.0	.	1306	Q5THR3	EFCB6_HUMAN	L	1154;1306	ENSP00000379533:P1154L;ENSP00000262726:P1306L	ENSP00000262726:P1306L	P	-	2	0	EFCAB6	42264721	0.264000	0.24093	0.050000	0.19076	0.288000	0.27193	0.858000	0.27845	2.155000	0.67459	0.655000	0.94253	CCC		0.517	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785	
LSMEM2	132228	broad.mit.edu	37	3	50324238	50324238	+	Silent	SNP	C	C	T	rs116862338	byFrequency	TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr3:50324238C>T	ENST00000316436.3	+	3	393	c.306C>T	c.(304-306)ctC>ctT	p.L102L		NM_153215.1	NP_694947.1	Q8N112	LSME2_HUMAN	leucine-rich single-pass membrane protein 2	102						integral component of membrane (GO:0016021)											TGCTGCTGCTCGCGCTGCTGG	0.617													C|||	2	0.000399361	0.0008	0.0	5008	,	,		21209	0.001		0.0	False		,,,				2504	0.0					uc003cyz.3																			0				endometrium(2)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	10						c.(304-306)ctC>ctT		Homo sapiens chromosome 3 open reading frame 45 (C3orf45), mRNA.							85.0	81.0	82.0					3																	50324238		2203	4300	6503	SO:0001819	synonymous_variant	132228					integral to membrane		g.chr3:50324238C>T	AK095927	CCDS2814.1	3p21.31	2013-03-08	2013-03-08	2013-03-08	ENSG00000179564	ENSG00000179564			26781	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 45"""	C3orf45			Standard	NM_153215		Approved	FLJ38608	uc003cyz.3	Q8N112	OTTHUMG00000156938	ENST00000316436.3:c.306C>T	3.37:g.50324238C>T							p.L102L	NM_153215	NP_694947	Q8N112	CC045_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	2	333	+			102						Silent	SNP	ENST00000316436.3	37	c.306C>T	CCDS2814.1																																																																																				0.617	LSMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346671.1	NM_153215	
STAB1	23166	broad.mit.edu	37	3	52540843	52540843	+	Missense_Mutation	SNP	G	G	A	rs371539004	byFrequency	TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr3:52540843G>A	ENST00000321725.6	+	18	2042	c.1966G>A	c.(1966-1968)Gag>Aag	p.E656K		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	656					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCACTGCAGCGAGGAGCAGCA	0.642													G|||	2	0.000399361	0.0	0.0	5008	,	,		18769	0.002		0.0	False		,,,				2504	0.0					uc003dej.3																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(1966-1968)Gag>Aag		Homo sapiens stabilin 1 (STAB1), mRNA.		G	LYS/GLU	1,4405		0,1,2202	64.0	58.0	60.0		1966	3.5	0.6	3		60	0,8598		0,0,4299	no	missense	STAB1	NM_015136.2	56	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	656/2571	52540843	1,13003	2203	4299	6502	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52540843G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.1966G>A	3.37:g.52540843G>A	ENSP00000312946:p.Glu656Lys					STAB1_uc003dei.1_Missense_Mutation_p.E656K	p.E656K	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	17	2040	+			656					A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.1966G>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.695304	0.68386	2.27E-4	0.0	ENSG00000010327	ENST00000321725	D	0.85088	-1.94	4.43	3.55	0.40652	.	0.414587	0.22819	N	0.055258	T	0.80138	0.4568	N	0.20766	0.605	0.28945	N	0.890747	P;D	0.61697	0.669;0.99	B;P	0.51170	0.122;0.661	T	0.74822	-0.3534	10	0.44086	T	0.13	.	11.4866	0.50356	0.0:0.2077:0.7923:0.0	.	656;656	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	K	656	ENSP00000312946:E656K	ENSP00000312946:E656K	E	+	1	0	STAB1	52515883	1.000000	0.71417	0.579000	0.28588	0.984000	0.73092	5.116000	0.64661	1.042000	0.40150	0.462000	0.41574	GAG		0.642	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136	
C3orf67	200844	broad.mit.edu	37	3	58856003	58856003	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr3:58856003G>A	ENST00000482387.1	-	4	469	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	C3orf67_ENST00000295966.7_Missense_Mutation_p.R125W|RP11-147N17.1_ENST00000463703.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA|C3orf67_ENST00000472469.1_Missense_Mutation_p.R45W			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	125										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		TTACTGTTCCGTGTAATACTT	0.378																																						uc003dkt.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19						c.(373-375)Cgg>Tgg		Homo sapiens chromosome 3 open reading frame 67 (C3orf67), mRNA.							226.0	185.0	199.0					3																	58856003		2203	4300	6503	SO:0001583	missense	200844							g.chr3:58856003G>A	AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.373C>T	3.37:g.58856003G>A	ENSP00000417122:p.Arg125Trp					C3orf67_uc003dks.1_5'Flank|AK090895_uc003dku.1_Intron|C3orf67_uc003dkv.1_5'UTR|C3orf67_uc003dkw.3_Missense_Mutation_p.R33W	p.R125W	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)	7	782	-		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)	125					B9EKV6|Q6ZV69	Missense_Mutation	SNP	ENST00000482387.1	37	c.373C>T		.	.	.	.	.	.	.	.	.	.	G	11.05	1.525033	0.27299	.	.	ENSG00000163689	ENST00000295966;ENST00000482387;ENST00000472469	T;T;T	0.51325	0.71;0.71;0.71	5.98	0.81	0.18732	.	0.469271	0.20788	N	0.085667	T	0.32882	0.0844	L	0.51422	1.61	0.09310	N	0.999998	B;B	0.34255	0.445;0.054	B;B	0.25140	0.058;0.017	T	0.21245	-1.0251	10	0.59425	D	0.04	-6.3094	5.7781	0.18292	0.19:0.0:0.2587:0.5512	.	45;125	C9J3M8;Q6ZVT6-2	.;.	W	125;125;45	ENSP00000295966:R125W;ENSP00000417122:R125W;ENSP00000417271:R45W	ENSP00000295966:R125W	R	-	1	2	C3orf67	58831043	0.000000	0.05858	0.002000	0.10522	0.058000	0.15608	0.463000	0.21972	0.394000	0.25230	-0.293000	0.09583	CGG		0.378	C3orf67-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000353803.1	NM_198463	
TBC1D23	55773	broad.mit.edu	37	3	100002647	100002648	+	Frame_Shift_Ins	INS	-	-	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr3:100002647_100002648insA	ENST00000394144.4	+	4	475_476	c.468_469insA	c.(469-471)attfs	p.I157fs	TBC1D23_ENST00000344949.5_Frame_Shift_Ins_p.I157fs|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000475134.1_Intron	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	157	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						TGAATAAGTACATTCCCAGGTA	0.381																																						uc003dtt.3																			0				breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						c.(466-471)tacattfs		Homo sapiens TBC1 domain family, member 23 (TBC1D23), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	55773					intracellular	Rab GTPase activator activity	g.chr3:100002647_100002648insA	AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.469dupA	3.37:g.100002648_100002648dupA	ENSP00000377700:p.Ile157fs					TBC1D23_uc003dts.3_Frame_Shift_Ins_p.Y156fs	p.Y156fs	NM_001199198	NP_001186127	Q9NUY8	TBC23_HUMAN			3	645_646	+			156			Rab-GAP TBC.		B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	Frame_Shift_Ins	INS	ENST00000394144.4	37	c.468_469insA	CCDS56265.1																																																																																				0.381	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353150.1	NM_018309	
KIAA1524	57650	broad.mit.edu	37	3	108279495	108279495	+	Splice_Site	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr3:108279495C>T	ENST00000295746.8	-	14	1904		c.e14+1		KIAA1524_ENST00000491772.1_Splice_Site|KIAA1524_ENST00000487834.1_5'Flank	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524						positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTTTCACTCACCACCATTCCA	0.328																																						uc003dxb.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.e14+1		Homo sapiens KIAA1524 (KIAA1524), mRNA.							118.0	123.0	121.0					3																	108279495		2203	4300	6503	SO:0001630	splice_region_variant	57650					cytoplasm|integral to membrane	protein binding	g.chr3:108279495C>T	AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"""cancerous inhibitor of protein phosphatase 2A"""	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.1827+1G>A	3.37:g.108279495C>T							p.V609_splice	NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN			14	2096	-			609					A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Splice_Site	SNP	ENST00000295746.8	37	c.1827_splice	CCDS33812.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.279354	0.80692	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3049	0.94157	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA1524	109762185	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.826000	0.69293	2.809000	0.96659	0.557000	0.71058	.		0.328	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2	NM_020890	Intron
COL6A5	256076	broad.mit.edu	37	3	130174429	130174429	+	Missense_Mutation	SNP	A	A	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr3:130174429A>T	ENST00000432398.2	+	37	7203	c.6709A>T	c.(6709-6711)Agc>Tgc	p.S2237C	COL6A5_ENST00000265379.6_Missense_Mutation_p.S2237C	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2237	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TTACCTTCCAAGCCAAATGTT	0.358																																						uc010htj.1																			0				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						c.(6709-6711)Agc>Tgc		Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.							63.0	61.0	62.0					3																	130174429		1810	4070	5880	SO:0001583	missense	256076				axon guidance|cell adhesion	collagen		g.chr3:130174429A>T	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.6709A>T	3.37:g.130174429A>T	ENSP00000390895:p.Ser2237Cys					COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Missense_Mutation_p.S276C|COL6A5_uc010htk.1_Missense_Mutation_p.S276C	p.S2237C	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN			36	7203	+			2237			Nonhelical region.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37	c.6709A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.04|11.04	1.521629|1.521629	0.27211|0.27211	.|.	.|.	ENSG00000172752|ENSG00000172752	ENST00000512836|ENST00000432398;ENST00000265379;ENST00000373157;ENST00000512482	.|D;D;T;T	.|0.90197	.|-2.54;-2.63;-1.02;-0.88	4.38|4.38	3.19|3.19	0.36642|0.36642	.|.	.|0.811537	.|0.10661	.|N	.|0.648783	D|D	0.90978|0.90978	0.7163|0.7163	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	.|D;D	.|0.61697	.|0.983;0.99	.|P;P	.|0.53313	.|0.533;0.723	T|T	0.81200|0.81200	-0.1041|-0.1041	5|10	.|0.56958	.|D	.|0.05	.|.	7.2197|7.2197	0.25979|0.25979	0.8024:0.0:0.0:0.1976|0.8024:0.0:0.0:0.1976	.|.	.|2237;2237	.|A8TX70;A8TX70-2	.|CO6A5_HUMAN;.	M|C	488|2237;2237;180;72	.|ENSP00000390895:S2237C;ENSP00000265379:S2237C;ENSP00000362250:S180C;ENSP00000424968:S72C	.|ENSP00000265379:S2237C	K|S	+|+	2|1	0|0	COL6A5|COL6A5	131657119|131657119	0.032000|0.032000	0.19561|0.19561	0.002000|0.002000	0.10522|0.10522	0.001000|0.001000	0.01503|0.01503	2.564000|2.564000	0.45931|0.45931	0.792000|0.792000	0.33850|0.33850	-0.344000|-0.344000	0.07964|0.07964	AAG|AGC		0.358	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264	
PRR23C	389152	broad.mit.edu	37	3	138762829	138762829	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr3:138762829G>A	ENST00000413199.1	-	1	905	c.634C>T	c.(634-636)Cgc>Tgc	p.R212C	PRR23C_ENST00000502927.2_Missense_Mutation_p.R212C|MRPS22_ENST00000495075.1_Intron	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN	proline rich 23C	212	Pro-rich.									breast(2)|lung(7)|skin(2)	11						AAGATGGGGCGTGGAGAGCGT	0.647																																						uc011bmt.1																			0				breast(2)|lung(7)|skin(2)	11						c.(634-636)Cgc>Tgc		Homo sapiens proline rich 23C (PRR23C), mRNA.							50.0	56.0	54.0					3																	138762829		692	1591	2283	SO:0001583	missense	389152							g.chr3:138762829G>A		CCDS46924.1	3q22.3	2014-06-03				ENSG00000233701			37173	protein-coding gene	gene with protein product							Standard	NM_001134657		Approved	FLJ46210	uc011bmt.1	Q6ZRP0		ENST00000413199.1:c.634C>T	3.37:g.138762829G>A	ENSP00000396648:p.Arg212Cys						p.R212C	NM_001134657	NP_001128129	Q6ZRP0	PR23C_HUMAN			0	906	-			212			Pro-rich.			Missense_Mutation	SNP	ENST00000413199.1	37	c.634C>T	CCDS46924.1	.	.	.	.	.	.	.	.	.	.	G	0.461	-0.889066	0.02511	.	.	ENSG00000233701	ENST00000413199;ENST00000502927	.	.	.	3.3	-6.61	0.01818	.	4.998830	0.00166	N	0.000006	T	0.34803	0.0910	L	0.59436	1.845	0.09310	N	1	P	0.39116	0.66	B	0.34242	0.178	T	0.44190	-0.9344	9	0.37606	T	0.19	.	6.1979	0.20559	0.0797:0.1005:0.4735:0.3463	.	212	Q6ZRP0	PR23C_HUMAN	C	212	.	ENSP00000396648:R212C	R	-	1	0	PRR23C	140245519	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-3.083000	0.00612	-5.168000	0.00020	-2.157000	0.00329	CGC		0.647	PRR23C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361502.1	NM_001134657	
LEKR1	389170	broad.mit.edu	37	3	156763371	156763371	+	Silent	SNP	C	C	T	rs144318565		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr3:156763371C>T	ENST00000470811.1	+	14	2334	c.999C>T	c.(997-999)cgC>cgT	p.R333R	LEKR1_ENST00000356539.4_Silent_p.R637R			Q6ZMV7	LEKR1_HUMAN	leucine, glutamate and lysine rich 1	333										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CCAACCTGCGCGGGGTGTCAA	0.552																																						uc021xgh.1																			0				breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11						c.(1909-1911)cgC>cgT		Homo sapiens leucine, glutamate and lysine rich 1 (LEKR1), transcript variant 1, mRNA.							79.0	87.0	84.0					3																	156763371		2203	4300	6503	SO:0001819	synonymous_variant	389170							g.chr3:156763371C>T	AK131473	CCDS54660.1	3q25.31	2014-02-12	2008-02-21		ENSG00000197980	ENSG00000197980			33765	protein-coding gene	gene with protein product		613536					Standard	NM_001004316		Approved	FLJ16641	uc021xgh.1	Q6ZMV7	OTTHUMG00000160130	ENST00000470811.1:c.999C>T	3.37:g.156763371C>T						LEKR1_uc003fba.1_Non-coding_Transcript	p.R637R	NM_001004316	NP_001004316	D3DNK7	D3DNK7_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		12	2025	+			0						Silent	SNP	ENST00000470811.1	37	c.1911C>T																																																																																					0.552	LEKR1-010	KNOWN	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000351625.3	NM_001004316	
TRMT44	152992	broad.mit.edu	37	4	8472818	8472818	+	Silent	SNP	A	A	G	rs533799281		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr4:8472818A>G	ENST00000389737.4	+	10	1935	c.1935A>G	c.(1933-1935)ctA>ctG	p.L645L		NM_152544.2	NP_689757.2	Q8IYL2	TRM44_HUMAN	tRNA methyltransferase 44 homolog (S. cerevisiae)	645					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										CAGAGAGCCTATCTCTGGCAG	0.532																																						uc003glg.2																			0				kidney(1)|lung(6)|ovary(3)|prostate(1)	11						c.(1933-1935)ctA>ctG		Homo sapiens methyltransferase like 19 (METTL19), transcript variant 2, mRNA.							122.0	140.0	134.0					4																	8472818		2203	4300	6503	SO:0001819	synonymous_variant	152992				tRNA processing	cytoplasm	methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr4:8472818A>G	AK093044	CCDS3402.1, CCDS3402.2	4p16.1	2012-06-12	2012-06-12	2012-06-12	ENSG00000155275	ENSG00000155275			26653	protein-coding gene	gene with protein product	"""tRNA methyltransferase 44 homolog (S. cerevisiae)"""	614309	"""chromosome 4 open reading frame 23"", ""methyltransferase like 19"""	C4orf23, METTL19		21658913	Standard	NM_152544		Approved	FLJ35725, TRM44	uc003glg.2	Q8IYL2	OTTHUMG00000160935	ENST00000389737.4:c.1935A>G	4.37:g.8472818A>G						METTL19_uc003glh.1_Silent_p.L253L|METTL19_uc003gli.1_5'Flank	p.L645L	NM_152544	NP_689757	Q8IYL2	TRM44_HUMAN			9	1953	+			645					Q8NA95	Silent	SNP	ENST00000389737.4	37	c.1935A>G	CCDS3402.2																																																																																				0.532	TRMT44-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359197.2	NM_152544	
GPR78	27201	broad.mit.edu	37	4	8588808	8588808	+	Silent	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr4:8588808C>T	ENST00000382487.4	+	3	1227	c.810C>T	c.(808-810)acC>acT	p.T270T	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	270					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						CCTTCGTCACCGTGAACGCCC	0.662																																						uc003glk.3																			0				central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.(808-810)acC>acT		Homo sapiens G protein-coupled receptor 78 (GPR78), transcript variant 1, mRNA.							39.0	39.0	39.0					4																	8588808		2203	4300	6503	SO:0001819	synonymous_variant	27201				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr4:8588808C>T	AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"""GPCR / Class A : Orphans"""	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.810C>T	4.37:g.8588808C>T						GPR78_uc021xlj.1_Non-coding_Transcript|CPZ_uc003gll.3_Intron	p.T270T	NM_080819	NP_543009	Q96P69	GPR78_HUMAN			2	1303	+			270					Q8NGV3	Silent	SNP	ENST00000382487.4	37	c.810C>T	CCDS3403.1																																																																																				0.662	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359201.1		
CENPE	1062	broad.mit.edu	37	4	104044141	104044141	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr4:104044141T>C	ENST00000265148.3	-	43	7119	c.7030A>G	c.(7030-7032)Aaa>Gaa	p.K2344E	CENPE_ENST00000380026.3_Missense_Mutation_p.K2223E	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2344	Kinetochore-binding domain.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGGTAGTTTTTAAATAGTTTT	0.378																																						uc003hxb.1																			0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(7030-7032)Aaa>Gaa		Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.							204.0	210.0	208.0					4																	104044141		2203	4300	6503	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104044141T>C	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.7030A>G	4.37:g.104044141T>C	ENSP00000265148:p.Lys2344Glu					CENPE_uc003hxc.1_Missense_Mutation_p.K2223E	p.K2344E	NM_001813	NP_001804	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	42	7120	-			2344			Kinetochore-binding domain.		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.7030A>G	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	T	16.29	3.081325	0.55753	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.70045	-0.45;-0.45	4.71	2.1	0.27182	.	.	.	.	.	T	0.59582	0.2204	L	0.27053	0.805	0.09310	N	1	B;D	0.55172	0.008;0.97	B;P	0.51833	0.007;0.681	T	0.49466	-0.8937	9	0.56958	D	0.05	.	6.6795	0.23113	0.0:0.2012:0.0:0.7988	.	2223;2344	Q02224-3;Q02224	.;CENPE_HUMAN	E	2344;2308;2223	ENSP00000265148:K2344E;ENSP00000369365:K2223E	ENSP00000265148:K2344E	K	-	1	0	CENPE	104263590	0.005000	0.15991	0.001000	0.08648	0.704000	0.40688	-0.126000	0.10563	0.145000	0.18977	0.260000	0.18958	AAA		0.378	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
ING2	3622	broad.mit.edu	37	4	184431464	184431464	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr4:184431464G>A	ENST00000302327.3	+	2	404	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K	ING2_ENST00000434682.2_Missense_Mutation_p.E28K	NM_001564.2	NP_001555.1	Q9H160	ING2_HUMAN	inhibitor of growth family, member 2	68					chromatin modification (GO:0016568)|male germ-line stem cell asymmetric division (GO:0048133)|male meiosis I (GO:0007141)|negative regulation of cell proliferation (GO:0008285)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cellular senescence (GO:2000772)|regulation of growth (GO:0040008)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|seminiferous tubule development (GO:0072520)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleus (GO:0005634)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)	p.E68K(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TGATGTCTACGAAAAATATAA	0.318																																						uc003ivs.1																			1	Substitution - Missense(1)	p.E68K(2)|p.Y67C(1)	large_intestine(1)	breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.(202-204)Gaa>Aaa		Homo sapiens inhibitor of growth family, member 2 (ING2), mRNA.							84.0	99.0	94.0					4																	184431464		2192	4293	6485	SO:0001583	missense	3622				chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent	CCAAT-binding factor complex|Sin3 complex	chromatin binding|DNA binding|protein complex binding|zinc ion binding	g.chr4:184431464G>A	AB012853	CCDS3833.1	4q35.1	2013-01-28	2005-02-10	2005-02-11	ENSG00000168556	ENSG00000168556		"""Zinc fingers, PHD-type"""	6063	protein-coding gene	gene with protein product		604215	"""inhibitor of growth family, member 1-like"""	ING1L		10072587	Standard	XM_005262982		Approved	p33ING2	uc003ivs.1	Q9H160	OTTHUMG00000150502	ENST00000302327.3:c.202G>A	4.37:g.184431464G>A	ENSP00000307183:p.Glu68Lys					ING2_uc011ckk.1_Missense_Mutation_p.E28K	p.E68K	NM_001564	NP_001555	Q9H160	ING2_HUMAN		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	1	331	+		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)	68					B6ZDS1|O95698	Missense_Mutation	SNP	ENST00000302327.3	37	c.202G>A	CCDS3833.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545290	0.65198	.	.	ENSG00000168556	ENST00000302327;ENST00000412117;ENST00000434682	.	.	.	5.54	5.54	0.83059	Double Clp-N motif (1);Inhibitor of growth protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.83760	0.5324	M	0.86420	2.815	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79784	0.993;0.989	T	0.80301	-0.1440	9	0.21540	T	0.41	-17.2433	19.6745	0.95926	0.0:0.0:1.0:0.0	.	28;68	B6ZDS1;Q9H160	.;ING2_HUMAN	K	68;28;28	.	ENSP00000307183:E68K	E	+	1	0	ING2	184668458	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.222000	0.95196	2.880000	0.98712	0.650000	0.86243	GAA		0.318	ING2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318652.1	NM_001564	
SLC6A18	348932	broad.mit.edu	37	5	1244741	1244741	+	Silent	SNP	G	G	A	rs202091732		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr5:1244741G>A	ENST00000324642.3	+	11	1638	c.1515G>A	c.(1513-1515)gcG>gcA	p.A505A		NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	505					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ATGACATTGCGTGGATGACCG	0.612																																						uc003jby.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34						c.(1513-1515)gcG>gcA		Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.							54.0	56.0	55.0					5																	1244741		2202	4300	6502	SO:0001819	synonymous_variant	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1244741G>A	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.1515G>A	5.37:g.1244741G>A							p.A505A	NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		10	1638	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		505						Silent	SNP	ENST00000324642.3	37	c.1515G>A	CCDS3860.1																																																																																				0.612	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632	
BASP1	10409	broad.mit.edu	37	5	17275800	17275800	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr5:17275800G>A	ENST00000322611.3	+	2	735	c.475G>A	c.(475-477)Gcc>Acc	p.A159T		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	159					diaphragm development (GO:0060539)|glomerular visceral epithelial cell differentiation (GO:0072112)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchyme development (GO:0072075)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of heart growth (GO:0060421)|positive regulation of metanephric ureteric bud development (GO:2001076)|substantia nigra development (GO:0021762)|thorax and anterior abdomen determination (GO:0007356)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(8)	9						AGCTCCTGCCGCCCAGGAGAC	0.711																																						uc003jfx.3																			0				endometrium(1)|lung(8)	9						c.(475-477)Gcc>Acc		Homo sapiens brain abundant, membrane attached signal protein 1 (BASP1), mRNA.							5.0	7.0	6.0					5																	17275800		2069	4124	6193	SO:0001583	missense	10409				glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr5:17275800G>A	AF039656	CCDS3888.1	5p15.1	2010-12-03			ENSG00000176788	ENSG00000176788			957	protein-coding gene	gene with protein product		605940				9310187, 9749536	Standard	NM_001271606		Approved	NAP-22, NAP22, CAP23, CAP-23	uc031siz.1	P80723	OTTHUMG00000131061	ENST00000322611.3:c.475G>A	5.37:g.17275800G>A	ENSP00000319281:p.Ala159Thr					BASP1_uc021xws.1_Missense_Mutation_p.A159T	p.A159T	NM_006317	NP_006308	P80723	BASP1_HUMAN			1	654	+			159					B4DJA8|D3DTD5|O43596|Q5U0S0|Q9BWA5	Missense_Mutation	SNP	ENST00000322611.3	37	c.475G>A	CCDS3888.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.773991	0.31411	.	.	ENSG00000176788	ENST00000322611;ENST00000447228	T	0.52754	0.65	4.18	0.0769	0.14405	.	0.553031	0.14689	N	0.304246	T	0.28863	0.0716	L	0.34521	1.04	0.09310	N	1	B	0.20671	0.047	B	0.11329	0.006	T	0.19321	-1.0309	10	0.54805	T	0.06	-0.686	1.527	0.02527	0.2608:0.1398:0.4565:0.143	.	159	P80723	BASP1_HUMAN	T	159;105	ENSP00000319281:A159T	ENSP00000319281:A159T	A	+	1	0	BASP1	17328800	1.000000	0.71417	0.128000	0.21923	0.994000	0.84299	0.996000	0.29719	-0.052000	0.13311	0.491000	0.48974	GCC		0.711	BASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253716.2		
DDX4	54514	broad.mit.edu	37	5	55083676	55083676	+	Silent	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr5:55083676G>A	ENST00000505374.1	+	15	1112	c.1020G>A	c.(1018-1020)gcG>gcA	p.A340A	DDX4_ENST00000511853.1_Silent_p.A191A|DDX4_ENST00000514278.2_Silent_p.A320A|DDX4_ENST00000353507.5_Silent_p.A306A|DDX4_ENST00000354991.5_Silent_p.A306A	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	340	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				ACTTCTAGGCGGCTTTTCTCC	0.383																																						uc003jqg.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(1018-1020)gcG>gcA		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 (DDX4), transcript variant 1, mRNA.							99.0	101.0	100.0					5																	55083676		2203	4300	6503	SO:0001819	synonymous_variant	54514				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:55083676G>A	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"""DEAD-boxes"""	18700	protein-coding gene	gene with protein product		605281	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"""			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.1020G>A	5.37:g.55083676G>A						DDX4_uc010ivz.3_Silent_p.A320A|DDX4_uc003jqh.4_Silent_p.A306A|DDX4_uc003jqj.3_Silent_p.A191A	p.A340A	NM_024415	NP_077726	Q9NQI0	DDX4_HUMAN			14	1119	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	340			Helicase ATP-binding.		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Silent	SNP	ENST00000505374.1	37	c.1020G>A	CCDS3969.1																																																																																				0.383	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415	
DMGDH	29958	broad.mit.edu	37	5	78340364	78340364	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr5:78340364G>A	ENST00000255189.3	-	6	785	c.757C>T	c.(757-759)Cgt>Tgt	p.R253C	DMGDH_ENST00000380311.4_Missense_Mutation_p.R52C|DMGDH_ENST00000540686.1_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	253					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CCTACTTCACGAGCCCAAAAT	0.318																																						uc003kfs.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(757-759)Cgt>Tgt		Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.							67.0	61.0	63.0					5																	78340364		2203	4300	6503	SO:0001583	missense	29958				choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	g.chr5:78340364G>A	AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.757C>T	5.37:g.78340364G>A	ENSP00000255189:p.Arg253Cys					DMGDH_uc011cte.1_Missense_Mutation_p.R103C|DMGDH_uc011ctf.1_Missense_Mutation_p.R52C|DMGDH_uc011ctg.1_Intron	p.R253C	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)	5	763	-		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)	253					B2RBN0|B4E1J9	Missense_Mutation	SNP	ENST00000255189.3	37	c.757C>T	CCDS4044.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.857374	0.91433	.	.	ENSG00000132837	ENST00000255189;ENST00000523732;ENST00000380311;ENST00000539598	D;D;D	0.82167	-1.58;-1.58;-1.58	5.29	5.29	0.74685	FAD dependent oxidoreductase (1);	0.050585	0.85682	D	0.000000	D	0.92743	0.7693	M	0.89353	3.025	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.979;0.992;0.995	D	0.93721	0.7033	10	0.87932	D	0	.	19.3555	0.94410	0.0:0.0:1.0:0.0	.	52;103;253	F8W6P8;F5H1C7;Q9UI17	.;.;M2GD_HUMAN	C	253;92;52;103	ENSP00000255189:R253C;ENSP00000430972:R92C;ENSP00000369667:R52C	ENSP00000255189:R253C	R	-	1	0	DMGDH	78376120	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.700000	0.84556	2.641000	0.89580	0.650000	0.86243	CGT		0.318	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391	
FAM81B	153643	broad.mit.edu	37	5	94749817	94749817	+	Missense_Mutation	SNP	T	T	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr5:94749817T>A	ENST00000283357.5	+	4	506	c.460T>A	c.(460-462)Tcg>Acg	p.S154T		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	154						nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		AAAAGAGGAATCGCTCGCCAG	0.478																																						uc003kla.1																			0		p.S154L(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(460-462)Tcg>Acg		Homo sapiens family with sequence similarity 81, member B (FAM81B), mRNA.							98.0	99.0	99.0					5																	94749817		1989	4168	6157	SO:0001583	missense	153643							g.chr5:94749817T>A		CCDS43341.1	5q15	2008-02-05			ENSG00000153347	ENSG00000153347			26335	protein-coding gene	gene with protein product							Standard	NM_152548		Approved	FLJ25333	uc003kla.1	Q96LP2	OTTHUMG00000162837	ENST00000283357.5:c.460T>A	5.37:g.94749817T>A	ENSP00000283357:p.Ser154Thr					FAM81B_uc010jbe.1_5'UTR	p.S154T	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN		all cancers(79;1.04e-16)	3	506	+		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)	154						Missense_Mutation	SNP	ENST00000283357.5	37	c.460T>A	CCDS43341.1	.	.	.	.	.	.	.	.	.	.	T	3.859	-0.030356	0.07543	.	.	ENSG00000153347	ENST00000283357	T	0.18338	2.22	5.53	0.0654	0.14356	.	0.642786	0.15384	N	0.265144	T	0.07818	0.0196	L	0.28344	0.845	0.09310	N	1	B	0.22800	0.075	B	0.19946	0.027	T	0.32508	-0.9904	10	0.14252	T	0.57	1.7557	1.1738	0.01831	0.2335:0.1461:0.1224:0.498	.	154	Q96LP2	FA81B_HUMAN	T	154	ENSP00000283357:S154T	ENSP00000283357:S154T	S	+	1	0	FAM81B	94775573	0.000000	0.05858	0.088000	0.20740	0.006000	0.05464	-0.273000	0.08548	0.371000	0.24564	0.528000	0.53228	TCG		0.478	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370690.1	NM_152548	
RAPGEF6	51735	broad.mit.edu	37	5	130940379	130940379	+	Missense_Mutation	SNP	T	T	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr5:130940379T>A	ENST00000509018.1	-	2	282	c.77A>T	c.(76-78)aAt>aTt	p.N26I	RAPGEF6_ENST00000510071.1_Missense_Mutation_p.N26I|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.N26I|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.N26I|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.N26I|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.N76I|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.N26I	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	26					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ATAAATAGTATTTAAGTCCTG	0.318																																					Melanoma(168;435 1955 13113 13877 23213)	uc003kvn.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(76-78)aAt>aTt		Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA.							42.0	42.0	42.0					5																	130940379		2200	4292	6492	SO:0001583	missense	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130940379T>A	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.77A>T	5.37:g.130940379T>A	ENSP00000421684:p.Asn26Ile					RAPGEF6_uc003kvp.2_Missense_Mutation_p.N76I|RAPGEF6_uc003kvo.2_Missense_Mutation_p.N26I|RAPGEF6_uc010jdi.2_Missense_Mutation_p.N26I|RAPGEF6_uc010jdj.2_Missense_Mutation_p.N26I|RAPGEF6_uc011cxe.2_Non-coding_Transcript|RAPGEF6_uc003kvr.3_Missense_Mutation_p.N26I|RAPGEF6_uc010jdk.3_Missense_Mutation_p.N26I	p.N26I	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	1	283	-			26					A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.77A>T	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	T	16.87	3.241158	0.58995	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000308008;ENST00000510071;ENST00000514667	T;T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26;2.26	5.18	5.18	0.71444	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.139919	0.47852	D	0.000205	T	0.23572	0.0570	L	0.44542	1.39	0.80722	D	1	P;P;D;P;D;P	0.54397	0.943;0.902;0.966;0.902;0.966;0.943	B;B;P;B;P;B	0.50708	0.445;0.445;0.648;0.445;0.648;0.445	T	0.00807	-1.1558	10	0.56958	D	0.05	.	12.8523	0.57864	0.0:0.0:0.0:1.0	.	26;26;26;76;26;26	A3KN82;B7ZML2;Q8TEU7-2;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;RPGF6_HUMAN	I	26;26;26;26;26;26;26;76	ENSP00000421684:N26I;ENSP00000309298:N26I;ENSP00000426081:N26I;ENSP00000296859:N26I;ENSP00000311419:N26I;ENSP00000425389:N26I;ENSP00000426948:N76I	ENSP00000426948:N76I	N	-	2	0	RAPGEF6;FNIP1	130968278	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.046000	0.71029	2.081000	0.62600	0.533000	0.62120	AAT		0.318	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340	
FBXO38	81545	broad.mit.edu	37	5	147796556	147796556	+	Splice_Site	SNP	G	G	C			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr5:147796556G>C	ENST00000340253.5	+	12	1575		c.e12-1		FBXO38_ENST00000513826.1_Splice_Site|FBXO38_ENST00000394370.3_Splice_Site|FBXO38_ENST00000296701.6_Splice_Site			Q6PIJ6	FBX38_HUMAN	F-box protein 38						cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTGCCTTAGGGTTGTGCTC	0.368																																						uc003lpf.1																		ATG4C/FBXO38(2)	0				NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51						c.e12-1		Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.							134.0	118.0	123.0					5																	147796556		2203	4300	6503	SO:0001630	splice_region_variant	81545					cytoplasm|nucleus		g.chr5:147796556G>C	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.1408-1G>C	5.37:g.147796556G>C						FBXO38_uc003lpg.1_Splice_Site_p.G470_splice|FBXO38_uc003lph.2_Splice_Site_p.G470_splice	p.G470_splice	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		12	1528	+			470					Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Splice_Site	SNP	ENST00000340253.5	37	c.1408_splice		.	.	.	.	.	.	.	.	.	.	G	19.02	3.746397	0.69418	.	.	ENSG00000145868	ENST00000340253;ENST00000296701;ENST00000394370;ENST00000513826	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5815	0.91172	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FBXO38	147776749	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	7.406000	0.80017	2.809000	0.96659	0.467000	0.42956	.		0.368	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793	Intron
FBXO38	81545	broad.mit.edu	37	5	147796638	147796638	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr5:147796638G>C	ENST00000340253.5	+	12	1657	c.1489G>C	c.(1489-1491)Gac>Cac	p.D497H	FBXO38_ENST00000513826.1_Missense_Mutation_p.D497H|FBXO38_ENST00000394370.3_Missense_Mutation_p.D497H|FBXO38_ENST00000296701.6_Missense_Mutation_p.D497H			Q6PIJ6	FBX38_HUMAN	F-box protein 38	497					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCAACAATGACGATAATAA	0.453																																						uc003lpf.1																		ATG4C/FBXO38(2)	0				NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51						c.(1489-1491)Gac>Cac		Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.							173.0	145.0	154.0					5																	147796638		2203	4300	6503	SO:0001583	missense	81545					cytoplasm|nucleus		g.chr5:147796638G>C	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.1489G>C	5.37:g.147796638G>C	ENSP00000342023:p.Asp497His					FBXO38_uc003lpg.1_Missense_Mutation_p.D497H|FBXO38_uc003lph.2_Missense_Mutation_p.D497H	p.D497H	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		11	1609	+			497					Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	ENST00000340253.5	37	c.1489G>C		.	.	.	.	.	.	.	.	.	.	G	26.9	4.778104	0.90195	.	.	ENSG00000145868	ENST00000340253;ENST00000296701;ENST00000394370;ENST00000513826	T;T;T;T	0.35605	1.3;1.33;1.3;1.33	5.52	5.52	0.82312	.	0.202350	0.50627	D	0.000102	T	0.47192	0.1432	L	0.27053	0.805	0.54753	D	0.999988	D;D;D	0.69078	0.997;0.975;0.975	D;P;P	0.66979	0.948;0.826;0.826	T	0.39375	-0.9617	10	0.49607	T	0.09	-13.57	17.2875	0.87146	0.0:0.0:1.0:0.0	.	497;497;497	Q6PIJ6-3;Q6PIJ6-2;Q6PIJ6	.;.;FBX38_HUMAN	H	497	ENSP00000342023:D497H;ENSP00000296701:D497H;ENSP00000377895:D497H;ENSP00000426410:D497H	ENSP00000296701:D497H	D	+	1	0	FBXO38	147776831	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	9.229000	0.95273	2.753000	0.94483	0.467000	0.42956	GAC		0.453	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793	
NIPAL4	348938	broad.mit.edu	37	5	156890242	156890242	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr5:156890242C>G	ENST00000311946.7	+	2	480	c.364C>G	c.(364-366)Ctg>Gtg	p.L122V	NIPAL4_ENST00000435489.2_Missense_Mutation_p.L122V|NIPAL4_ENST00000521390.1_3'UTR|ADAM19_ENST00000430702.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	122						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CTACATCGGCCTGGGCCTGGC	0.577																																						uc003lwx.4																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						c.(364-366)Ctg>Gtg		Homo sapiens NIPA-like domain containing 4 (NIPAL4), transcript variant 1, mRNA.							70.0	72.0	71.0					5																	156890242		2012	4194	6206	SO:0001583	missense	348938					integral to membrane	receptor activity	g.chr5:156890242C>G	AK026158	CCDS47328.1, CCDS54944.1	5q33.3	2009-03-24	2009-03-24		ENSG00000172548	ENSG00000172548			28018	protein-coding gene	gene with protein product	"""ichthyin"""	609383	"""NIPA-like 4"""			8619474, 9110174, 15317751	Standard	NM_001099287		Approved	ICHYN	uc003lwx.4	Q0D2K0	OTTHUMG00000163497	ENST00000311946.7:c.364C>G	5.37:g.156890242C>G	ENSP00000311687:p.Leu122Val					ADAM19_uc003lww.2_Intron|NIPAL4_uc011ddq.2_Missense_Mutation_p.L122V|NIPAL4_uc010jin.1_Silent_p.A56A	p.L122V	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN			1	480	+			122					A8S6F1|A8S6F5|A8S6F8|B4DLF3|Q0D2J8|Q0D2J9	Missense_Mutation	SNP	ENST00000311946.7	37	c.364C>G	CCDS47328.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.869204	0.32977	.	.	ENSG00000172548	ENST00000435489;ENST00000311946	D;D	0.90197	-2.63;-2.63	5.33	1.08	0.20341	.	0.210770	0.41396	N	0.000882	D	0.83677	0.5306	L	0.41492	1.28	0.38559	D	0.949653	B;B	0.25048	0.054;0.117	B;B	0.25884	0.058;0.064	T	0.75780	-0.3197	10	0.45353	T	0.12	-24.2713	7.4497	0.27231	0.0:0.5365:0.2505:0.213	.	122;122	Q0D2K0-2;Q0D2K0	.;NIPA4_HUMAN	V	122	ENSP00000406456:L122V;ENSP00000311687:L122V	ENSP00000311687:L122V	L	+	1	2	NIPAL4	156822820	0.007000	0.16637	0.927000	0.36925	0.978000	0.69477	0.180000	0.16860	0.221000	0.20879	0.561000	0.74099	CTG		0.577	NIPAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373789.1	NM_001099287	
GABRA1	2554	broad.mit.edu	37	5	161324318	161324318	+	Nonsense_Mutation	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr5:161324318C>T	ENST00000428797.2	+	11	1616	c.1261C>T	c.(1261-1263)Cga>Tga	p.R421*	GABRA1_ENST00000420560.1_Nonsense_Mutation_p.R421*|GABRA1_ENST00000023897.6_Nonsense_Mutation_p.R421*|GABRA1_ENST00000444819.1_Nonsense_Mutation_p.R421*|GABRA1_ENST00000393943.4_Nonsense_Mutation_p.R421*|GABRA1_ENST00000437025.2_Nonsense_Mutation_p.R421*	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	421					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	CAAAATTGACCGACTGTCAAG	0.443																																						uc010jiw.3																			0		p.D420Y(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(1261-1263)Cga>Tga		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						151.0	150.0	150.0					5																	161324318		2203	4300	6503	SO:0001587	stop_gained	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:161324318C>T		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.1261C>T	5.37:g.161324318C>T	ENSP00000393097:p.Arg421*					GABRA1_uc010jix.3_Nonsense_Mutation_p.R421*|GABRA1_uc010jiy.3_Nonsense_Mutation_p.R421*|GABRA1_uc003lyx.4_Nonsense_Mutation_p.R421*|GABRA1_uc010jiz.3_Nonsense_Mutation_p.R421*|GABRA1_uc010jja.3_Nonsense_Mutation_p.R421*|GABRA1_uc010jjb.3_Nonsense_Mutation_p.R421*	p.R421*	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	10	1729	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	421					D3DQK6|Q8N629	Nonsense_Mutation	SNP	ENST00000428797.2	37	c.1261C>T	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	C	38	7.054540	0.98032	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	.	.	.	5.32	4.44	0.53790	.	0.062197	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6781	0.77344	0.1382:0.8618:0.0:0.0	.	.	.	.	X	421	.	ENSP00000023897:R421X	R	+	1	2	GABRA1	161256896	1.000000	0.71417	0.991000	0.47740	0.983000	0.72400	2.534000	0.45676	1.354000	0.45846	0.563000	0.77884	CGA		0.443	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5	
MCHR2	84539	broad.mit.edu	37	6	100382322	100382322	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr6:100382322A>G	ENST00000281806.2	-	5	973	c.659T>C	c.(658-660)aTt>aCt	p.I220T	MCHR2_ENST00000369212.2_Missense_Mutation_p.I220T	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		ATAGCATAAAATTAAAATATA	0.328																																						uc003pqh.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39						c.(658-660)aTt>aCt		Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.							101.0	106.0	104.0					6																	100382322		2203	4299	6502	SO:0001583	missense	84539					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:100382322A>G	AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.659T>C	6.37:g.100382322A>G	ENSP00000281806:p.Ile220Thr					MCHR2_uc003pqi.1_Missense_Mutation_p.I220T	p.I220T	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)	4	974	-		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)	220					B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Missense_Mutation	SNP	ENST00000281806.2	37	c.659T>C	CCDS5044.1	.	.	.	.	.	.	.	.	.	.	A	18.78	3.697642	0.68386	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	T;T;T	0.56776	0.44;0.44;0.44	5.11	5.11	0.69529	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000008	T	0.61350	0.2340	M	0.69523	2.12	0.45852	D	0.99871	D	0.54601	0.967	P	0.62014	0.897	T	0.67860	-0.5561	10	0.87932	D	0	.	13.7357	0.62815	1.0:0.0:0.0:0.0	.	220	Q969V1	MCHR2_HUMAN	T	220	ENSP00000403490:I220T;ENSP00000281806:I220T;ENSP00000358214:I220T	ENSP00000281806:I220T	I	-	2	0	MCHR2	100489043	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.579000	0.53900	1.931000	0.55961	0.533000	0.62120	ATT		0.328	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503	
MCHR2	84539	broad.mit.edu	37	6	100395726	100395726	+	Missense_Mutation	SNP	C	C	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr6:100395726C>A	ENST00000281806.2	-	3	618	c.304G>T	c.(304-306)Ggg>Tgg	p.G102W	MCHR2_ENST00000369212.2_Missense_Mutation_p.G102W	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AGAGGCCCCCCAAACACCCAC	0.488																																						uc003pqh.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39						c.(304-306)Ggg>Tgg		Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.							118.0	121.0	120.0					6																	100395726		2203	4300	6503	SO:0001583	missense	84539					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:100395726C>A	AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.304G>T	6.37:g.100395726C>A	ENSP00000281806:p.Gly102Trp					MCHR2_uc003pqi.1_Missense_Mutation_p.G102W	p.G102W	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)	2	619	-		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)	102					B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Missense_Mutation	SNP	ENST00000281806.2	37	c.304G>T	CCDS5044.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.106110	0.56291	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	T;T;T	0.51325	0.71;0.71;0.71	4.57	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000005	T	0.73202	0.3557	H	0.95437	3.67	0.54753	D	0.999988	D	0.89917	1.0	D	0.97110	1.0	T	0.82604	-0.0375	10	0.87932	D	0	.	14.8815	0.70537	0.0:1.0:0.0:0.0	.	102	Q969V1	MCHR2_HUMAN	W	102	ENSP00000403490:G102W;ENSP00000281806:G102W;ENSP00000358214:G102W	ENSP00000281806:G102W	G	-	1	0	MCHR2	100502447	1.000000	0.71417	0.996000	0.52242	0.377000	0.30045	6.594000	0.74104	2.089000	0.63090	0.650000	0.86243	GGG		0.488	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503	
HDAC2	3066	broad.mit.edu	37	6	114265495	114265495	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr6:114265495G>C	ENST00000519065.1	-	11	1547	c.1171C>G	c.(1171-1173)Cat>Gat	p.H391D	HDAC2_ENST00000398283.2_Missense_Mutation_p.H485D|HDAC2_ENST00000519108.1_Missense_Mutation_p.H361D|HDAC2_ENST00000368632.2_Missense_Mutation_p.H361D			Q92769	HDAC2_HUMAN	histone deacetylase 2	391					ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	CTGTCTTCATGAACAGCATCT	0.363																																						uc003pwd.2																			0				biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27						c.(1171-1173)Cat>Gat		Homo sapiens histone deacetylase 2 (HDAC2), transcript variant 1, mRNA.	Vorinostat(DB02546)						129.0	120.0	123.0					6																	114265495		1910	4143	6053	SO:0001583	missense	3066				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	g.chr6:114265495G>C	U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.1171C>G	6.37:g.114265495G>C	ENSP00000430432:p.His391Asp					HDAC2_uc003pwc.2_Missense_Mutation_p.H361D|HDAC2_uc003pwe.2_Missense_Mutation_p.H361D	p.H391D	NM_001527	NP_001518	Q92769	HDAC2_HUMAN		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	10	1458	-		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)	391					B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	Missense_Mutation	SNP	ENST00000519065.1	37	c.1171C>G	CCDS43493.2	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147074	0.37923	.	.	ENSG00000196591	ENST00000519065;ENST00000398283;ENST00000519108;ENST00000368632	T;T;T;T	0.72942	-0.68;-0.7;-0.68;-0.68	6.07	6.07	0.98685	.	0.078024	0.53938	D	0.000046	T	0.28599	0.0708	N	0.00670	-1.27	0.58432	D	0.999991	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.31998	-0.9923	10	0.25751	T	0.34	-37.0655	20.6439	0.99570	0.0:0.0:1.0:0.0	.	361;391	B3KRS5;Q92769	.;HDAC2_HUMAN	D	391;485;361;361	ENSP00000430432:H391D;ENSP00000381331:H485D;ENSP00000430008:H361D;ENSP00000357621:H361D	ENSP00000357621:H361D	H	-	1	0	HDAC2	114372188	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.700000	0.98707	2.884000	0.98904	0.655000	0.94253	CAT		0.363	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041909.2		
MAP7	9053	broad.mit.edu	37	6	136682257	136682257	+	Silent	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr6:136682257C>T	ENST00000354570.3	-	12	1997	c.1587G>A	c.(1585-1587)gaG>gaA	p.E529E	MAP7_ENST00000438100.2_Silent_p.E514E|MAP7_ENST00000454590.1_Silent_p.E551E|MAP7_ENST00000544465.1_Silent_p.E514E|MAP7_ENST00000432797.2_Silent_p.E383E	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	529					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TGCGCGACTCCTCCTCACGGC	0.617																																						uc011edg.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1675-1677)gaG>gaA		Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA.							21.0	24.0	23.0					6																	136682257		2200	4290	6490	SO:0001819	synonymous_variant	9053				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	g.chr6:136682257C>T	X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.1587G>A	6.37:g.136682257C>T						MAP7_uc011edf.2_Silent_p.E514E|MAP7_uc010kgu.3_Silent_p.E551E|MAP7_uc011edh.2_Silent_p.E514E|MAP7_uc010kgv.3_Silent_p.E551E|MAP7_uc010kgs.3_Silent_p.E383E|MAP7_uc011edi.2_Silent_p.E383E|MAP7_uc010kgq.2_Silent_p.E435E|MAP7_uc003qgz.3_Silent_p.E529E|MAP7_uc003qha.2_Silent_p.E492E	p.E559E	NM_001198609	NP_001185538	Q14244	MAP7_HUMAN		GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)	11	1926	-	Colorectal(23;0.24)		529					B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Silent	SNP	ENST00000354570.3	37	c.1677G>A	CCDS5178.1																																																																																				0.617	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980	
AP5Z1	9907	broad.mit.edu	37	7	4820908	4820908	+	Silent	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:4820908C>T	ENST00000348624.4	+	2	238	c.144C>T	c.(142-144)ctC>ctT	p.L48L	AP5Z1_ENST00000401897.1_Silent_p.L48L	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	48					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											TGCAGAGGCTCTTCCTCATCA	0.632																																						uc003sne.3																			0											c.(142-144)ctC>ctT		Homo sapiens KIAA0415 (KIAA0415), mRNA.							44.0	50.0	48.0					7																	4820908		2087	4234	6321	SO:0001819	synonymous_variant	9907				cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding	g.chr7:4820908C>T	AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"""KIAA0415"""	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.144C>T	7.37:g.4820908C>T						AP5Z1_uc010ksp.3_Non-coding_Transcript	p.L48L	NM_014855	NP_055670	O43299	K0415_HUMAN			1	229	+			48					Q8N3X2|Q96H80	Silent	SNP	ENST00000348624.4	37	c.144C>T	CCDS47528.1																																																																																				0.632	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1		
ABCB5	340273	broad.mit.edu	37	7	20744386	20744386	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:20744386G>A	ENST00000404938.2	+	20	3029	c.2377G>A	c.(2377-2379)Ggc>Agc	p.G793S	ABCB5_ENST00000258738.6_Missense_Mutation_p.G348S	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	793	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CAGCACAGGAGGCTTGACAAC	0.328																																						uc010kuh.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						c.(2377-2379)Ggc>Agc		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.							147.0	139.0	141.0					7																	20744386		2203	4300	6503	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20744386G>A	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2377G>A	7.37:g.20744386G>A	ENSP00000384881:p.Gly793Ser					ABCB5_uc003suw.4_Missense_Mutation_p.G348S	p.G793S	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN			19	2614	+			348			ABC transporter 2.		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.2377G>A	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	7.151	0.583708	0.13749	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	T;T	0.79247	-1.25;-1.25	4.66	2.78	0.32641	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.466873	0.18339	N	0.144225	T	0.46619	0.1402	N	0.00554	-1.385	0.21675	N	0.999599	B;B	0.09022	0.0;0.002	B;B	0.12156	0.007;0.007	T	0.48896	-0.8994	10	0.62326	D	0.03	.	10.1716	0.42913	0.0817:0.0:0.7816:0.1367	.	793;348	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	S	793;348	ENSP00000384881:G793S;ENSP00000258738:G348S	ENSP00000258738:G348S	G	+	1	0	ABCB5	20710911	1.000000	0.71417	0.999000	0.59377	0.032000	0.12392	2.348000	0.44045	0.270000	0.21984	-1.598000	0.00824	GGC		0.328	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559	
CHN2	1124	broad.mit.edu	37	7	29539600	29539600	+	Missense_Mutation	SNP	A	A	C			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:29539600A>C	ENST00000222792.6	+	9	1387	c.857A>C	c.(856-858)cAc>cCc	p.H286P	CHN2_ENST00000546235.1_Missense_Mutation_p.H271P|CHN2_ENST00000495789.2_Missense_Mutation_p.H299P|CHN2_ENST00000539406.1_Missense_Mutation_p.H361P|CHN2_ENST00000409041.4_Missense_Mutation_p.H150P|CHN2_ENST00000439711.2_Missense_Mutation_p.H150P|CHN2_ENST00000421775.2_Intron|CHN2_ENST00000424025.2_Missense_Mutation_p.H105P|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000539389.1_Missense_Mutation_p.H142P|CHN2_ENST00000435288.2_Intron	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	286	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						GTGAAGGCTCACAACACTCAG	0.413																																					Ovarian(1;44 48 13232 18918 31480)	uc003szz.3																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						c.(856-858)cAc>cCc		Homo sapiens chimerin (chimaerin) 2 (CHN2), transcript variant 2, mRNA.							97.0	85.0	89.0					7																	29539600		2203	4300	6503	SO:0001583	missense	1124				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr7:29539600A>C	L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1944	protein-coding gene	gene with protein product	"""beta chimerin"", ""chimaerin 2"""	602857	"""chimerin (chimaerin) 2"""			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.857A>C	7.37:g.29539600A>C	ENSP00000222792:p.His286Pro					CHN2_uc011jzs.2_Missense_Mutation_p.H361P|CHN2_uc010kva.3_Missense_Mutation_p.H56P|CHN2_uc010kvb.3_Intron|CHN2_uc010kvc.3_Missense_Mutation_p.H251P|CHN2_uc011jzt.2_Missense_Mutation_p.H299P|CHN2_uc010kvd.3_Missense_Mutation_p.H142P|CHN2_uc011jzu.2_Missense_Mutation_p.H271P|CHN2_uc010kvh.3_Intron|CHN2_uc010kvi.3_Missense_Mutation_p.H150P|CHN2_uc010kve.3_Missense_Mutation_p.H150P|CHN2_uc003taa.3_Missense_Mutation_p.H150P|CHN2_uc010kvf.3_Intron|CHN2_uc010kvg.3_Missense_Mutation_p.H150P|CHN2_uc010kvj.3_Missense_Mutation_p.H105P|CHN2_uc010kvk.3_Intron|CHN2_uc010kvl.3_Non-coding_Transcript|CHN2_uc010kvm.3_Missense_Mutation_p.H105P|CHN2_uc011jzv.2_Missense_Mutation_p.H79P	p.H286P	NM_004067	NP_004058	P52757	CHIO_HUMAN			8	1294	+			286			Rho-GAP.		A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Missense_Mutation	SNP	ENST00000222792.6	37	c.857A>C	CCDS5420.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.369511	0.82463	.	.	ENSG00000106069	ENST00000539406;ENST00000222792;ENST00000495789;ENST00000539389;ENST00000546235;ENST00000446446;ENST00000409041;ENST00000424025;ENST00000439711	T;T;T;T;T;T;T;T;T	0.10960	2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.82;2.82	5.61	5.61	0.85477	Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.35189	0.0923	M	0.76838	2.35	0.80722	D	1	D;B;D;D;D;D;D;B;D;D;D;D;D;D	0.71674	0.994;0.26;0.992;0.998;0.994;0.993;0.998;0.382;0.994;0.996;0.971;0.966;0.994;0.971	P;B;D;D;D;P;D;B;P;P;P;P;D;P	0.79108	0.898;0.064;0.971;0.992;0.917;0.904;0.991;0.133;0.898;0.864;0.896;0.703;0.917;0.896	T	0.10064	-1.0646	10	0.72032	D	0.01	.	15.758	0.78051	1.0:0.0:0.0:0.0	.	79;271;299;361;105;105;150;150;150;142;286;56;150;286	B7Z215;B7Z1W9;B7Z1V0;F5H003;B3VCF1;B3VCF2;B3VCF5;B3VCF7;B3VCF6;B3VCG1;A4D1A2;B3VCF8;E9PGE0;P52757	.;.;.;.;.;.;.;.;.;.;.;.;.;CHIO_HUMAN	P	361;286;299;142;271;111;150;105;150	ENSP00000444063:H361P;ENSP00000222792:H286P;ENSP00000438587:H299P;ENSP00000440526:H142P;ENSP00000442812:H271P;ENSP00000396867:H111P;ENSP00000386849:H150P;ENSP00000406337:H105P;ENSP00000387425:H150P	ENSP00000222792:H286P	H	+	2	0	CHN2	29506125	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.251000	0.95483	2.263000	0.75096	0.379000	0.24179	CAC		0.413	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2	NM_004067	
CCDC129	223075	broad.mit.edu	37	7	31682400	31682400	+	Silent	SNP	G	G	A	rs146986060		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:31682400G>A	ENST00000407970.3	+	11	1454	c.1416G>A	c.(1414-1416)tcG>tcA	p.S472S	CCDC129_ENST00000451887.2_Silent_p.S498S|CCDC129_ENST00000409210.1_Silent_p.S380S|CCDC129_ENST00000319386.3_Silent_p.S324S	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	472										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AGCTAGAGTCGGATGGGCCAG	0.502																																						uc011kae.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(1492-1494)tcG>tcA		Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.							91.0	90.0	90.0					7																	31682400		2203	4300	6503	SO:0001819	synonymous_variant	223075							g.chr7:31682400G>A	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1416G>A	7.37:g.31682400G>A						CCDC129_uc011kad.1_Silent_p.S482S|CCDC129_uc003tcj.1_Silent_p.S472S|CCDC129_uc003tci.1_Silent_p.S323S|CCDC129_uc003tck.1_Silent_p.S380S	p.S498S	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN			10	1506	+			472					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Silent	SNP	ENST00000407970.3	37	c.1494G>A	CCDS5435.2																																																																																				0.502	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300	
EGFR	1956	broad.mit.edu	37	7	55210075	55210075	+	Missense_Mutation	SNP	T	T	G			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:55210075T>G	ENST00000275493.2	+	2	362	c.185T>G	c.(184-186)cTt>cGt	p.L62R	EGFR_ENST00000455089.1_Missense_Mutation_p.L62R|EGFR_ENST00000420316.2_Missense_Mutation_p.L62R|EGFR_ENST00000342916.3_Missense_Mutation_p.L62R|EGFR_ENST00000442591.1_Missense_Mutation_p.L62R|EGFR_ENST00000454757.2_Missense_Mutation_p.L9R|EGFR_ENST00000344576.2_Missense_Mutation_p.L62R	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	62			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		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)	p.L62R(3)		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)	GAGGTGGTCCTTGGGAATTTG	0.408		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		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"""		3	Substitution - Missense(3)	p.V30_R297>G(5)|p.L62R(5)	lung(2)|central_nervous_system(1)	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						c.(184-186)cTt>cGt		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						175.0	167.0	170.0					7																	55210075		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.chr7:55210075T>G		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.185T>G	7.37:g.55210075T>G	ENSP00000275493:p.Leu62Arg	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.L62R|EGFR_uc003tqi.3_Missense_Mutation_p.L62R|EGFR_uc003tqj.3_Missense_Mutation_p.L62R|EGFR_uc022adm.1_Missense_Mutation_p.L62R|EGFR_uc010kzg.2_Missense_Mutation_p.L62R|EGFR_uc022adn.1_Missense_Mutation_p.L62R|EGFR_uc011kco.2_Missense_Mutation_p.L9R	p.L62R	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)		1	431	+	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)		62					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.185T>G	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	T	19.51	3.842145	0.71488	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000450046;ENST00000454757	T;T;T;T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27	6.05	4.9	0.64082	EGF receptor, L domain (1);	0.059356	0.64402	D	0.000001	D	0.87857	0.6283	M	0.86028	2.79	0.54753	D	0.999982	P;P;D;D;D	0.89917	0.882;0.795;1.0;0.991;0.992	P;P;D;P;P	0.74674	0.626;0.553;0.984;0.825;0.814	D	0.88586	0.3140	10	0.72032	D	0.01	.	11.1407	0.48400	0.0:0.0723:0.0:0.9277	.	62;62;62;62;62	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	R	62;62;62;62;62;62;9;9	ENSP00000415559:L62R;ENSP00000342376:L62R;ENSP00000345973:L62R;ENSP00000413843:L62R;ENSP00000275493:L62R;ENSP00000410031:L62R;ENSP00000413354:L9R;ENSP00000395243:L9R	ENSP00000275493:L62R	L	+	2	0	EGFR	55177569	1.000000	0.71417	0.981000	0.43875	0.771000	0.43674	5.950000	0.70265	1.114000	0.41781	-0.263000	0.10527	CTT		0.408	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
CALN1	83698	broad.mit.edu	37	7	71275350	71275350	+	Missense_Mutation	SNP	G	G	A	rs143545775		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:71275350G>A	ENST00000329008.5	-	5	801	c.503C>T	c.(502-504)tCg>tTg	p.S168L	CALN1_ENST00000395276.2_Missense_Mutation_p.S168L|CALN1_ENST00000412588.1_Missense_Mutation_p.S210L|CALN1_ENST00000395275.2_Missense_Mutation_p.S210L|CALN1_ENST00000405452.2_Missense_Mutation_p.S168L|CALN1_ENST00000431984.1_Missense_Mutation_p.S168L	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)	p.S168L(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				GCAGTTCCCCGAGGTCTCATT	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		19794	0.0		0.001	False		,,,				2504	0.0					uc003twb.4																			1	Substitution - Missense(1)	p.S168L(1)	skin(1)	biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32						c.(628-630)tCg>tTg		Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.		G	LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	205.0	166.0	179.0		629,503	5.1	1.0	7	dbSNP_134	179	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	CALN1	NM_031468.3,NM_001017440.2	145,145	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign,benign	210/262,168/220	71275350	2,13004	2203	4300	6503	SO:0001583	missense	83698					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr7:71275350G>A	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"""EF-hand domain containing"""	13248	protein-coding gene	gene with protein product	"""calcium-binding protein CABP8"""	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.503C>T	7.37:g.71275350G>A	ENSP00000332498:p.Ser168Leu					CALN1_uc003twa.4_Missense_Mutation_p.S168L|CALN1_uc003twc.4_Missense_Mutation_p.S168L	p.S210L	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN			5	1020	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	168					J3KQA7	Missense_Mutation	SNP	ENST00000329008.5	37	c.629C>T	CCDS5541.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	21.1	4.094103	0.76870	2.27E-4	1.16E-4	ENSG00000183166	ENST00000329008;ENST00000395275;ENST00000395276;ENST00000431984;ENST00000412588;ENST00000405452	T;T;T;T;T;T	0.70631	-0.4;-0.5;-0.4;-0.4;-0.5;-0.4	5.1	5.1	0.69264	.	0.119720	0.64402	D	0.000017	T	0.54095	0.1837	N	0.14661	0.345	0.51767	D	0.999933	B;B	0.33120	0.398;0.398	B;B	0.22880	0.042;0.042	T	0.61232	-0.7104	10	0.87932	D	0	-40.2874	17.6921	0.88271	0.0:0.0:1.0:0.0	.	168;168	A4D1Z1;Q9BXU9	.;CABP8_HUMAN	L	168;210;168;168;210;168	ENSP00000332498:S168L;ENSP00000378690:S210L;ENSP00000378691:S168L;ENSP00000410704:S168L;ENSP00000391882:S210L;ENSP00000384354:S168L	ENSP00000332498:S168L	S	-	2	0	CALN1	70913286	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	7.616000	0.83018	2.670000	0.90874	0.655000	0.94253	TCG		0.507	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468	
TYW1B	441250	broad.mit.edu	37	7	72093896	72093896	+	RNA	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:72093896C>T	ENST00000435769.2	-	0	1716				TYW1B_ENST00000343721.5_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										AGTCAGGATTCCCCAGGGACA	0.537																																						uc011kej.2																			0											c.(1588-1590)ggG>ggA		Homo sapiens tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) (TYW1B), transcript variant 1, mRNA.							42.0	47.0	46.0					7																	72093896		692	1590	2282			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72093896C>T	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72093896C>T						TYW1B_uc011keh.1_Silent_p.G368G|TYW1B_uc011kei.2_Silent_p.G157G	p.G530G	NM_001145440	NP_001138912	Q6NUM6	TYW1B_HUMAN			13	1749	-			531					A6NG09|B4DFY2|Q3KQX2	Silent	SNP	ENST00000435769.2	37	c.1590G>A																																																																																					0.537	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440	
MUC3A	4584	broad.mit.edu	37	7	100609886	100609886	+	Silent	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:100609886C>T	ENST00000319509.7	+	9	2526	c.2526C>T	c.(2524-2526)gaC>gaT	p.D842D	RP11-395B7.2_ENST00000420080.1_RNA|RP11-395B7.2_ENST00000434775.1_RNA			Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	2507	Ser-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GTTTCGAGGACGACGGAACAG	0.612																																						uc003uxl.1																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						c.(2224-2226)gaC>gaT		SubName: Full=Intestinal mucin; Flags: Fragment;							153.0	137.0	142.0					7																	100609886		876	1991	2867	SO:0001819	synonymous_variant	4584							g.chr7:100609886C>T	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.2526C>T	7.37:g.100609886C>T						AK096803_uc003uxm.1_5'Flank|AK096803_uc003uxn.1_Intron|MUC3A_uc010lhn.1_Non-coding_Transcript	p.D742D							8	3026	+								O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	Silent	SNP	ENST00000319509.7	37	c.2226C>T																																																																																					0.612	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347215.1	XM_001725354	
PIK3CG	5294	broad.mit.edu	37	7	106508826	106508826	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:106508826G>A	ENST00000359195.3	+	2	1130	c.820G>A	c.(820-822)Gtc>Atc	p.V274I	PIK3CG_ENST00000440650.2_Missense_Mutation_p.V274I|PIK3CG_ENST00000496166.1_Missense_Mutation_p.V274I	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	274	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V274I(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TGTGCTGCGCGTCTGTGGCCG	0.542																																						uc003vdv.4																			1	Substitution - Missense(1)	p.V274I(2)	large_intestine(1)	breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(820-822)Gtc>Atc		Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.							54.0	51.0	52.0					7																	106508826		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508826G>A		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.820G>A	7.37:g.106508826G>A	ENSP00000352121:p.Val274Ile					PIK3CG_uc003vdu.3_Missense_Mutation_p.V274I|PIK3CG_uc003vdw.3_Missense_Mutation_p.V274I	p.V274I	NM_002649	NP_002640	P48736	PK3CG_HUMAN			1	905	+			274					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.820G>A	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.957818	0.53400	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.79749	-1.3;-1.3;-1.3	5.99	5.99	0.97316	Phosphoinositide 3-kinase, ras-binding (2);	0.053681	0.64402	D	0.000001	T	0.74921	0.3780	L	0.48642	1.525	0.80722	D	1	B	0.29909	0.261	B	0.28916	0.096	T	0.70368	-0.4891	10	0.30854	T	0.27	-35.1478	14.0585	0.64786	0.0769:0.0:0.9231:0.0	.	274	P48736	PK3CG_HUMAN	I	274	ENSP00000392258:V274I;ENSP00000419260:V274I;ENSP00000352121:V274I	ENSP00000352121:V274I	V	+	1	0	PIK3CG	106296062	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	6.694000	0.74587	2.840000	0.97914	0.655000	0.94253	GTC		0.542	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1		
PIK3CG	5294	broad.mit.edu	37	7	106509352	106509352	+	Missense_Mutation	SNP	C	C	T	rs376675940		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:106509352C>T	ENST00000359195.3	+	2	1656	c.1346C>T	c.(1345-1347)tCc>tTc	p.S449F	PIK3CG_ENST00000440650.2_Missense_Mutation_p.S449F|PIK3CG_ENST00000496166.1_Missense_Mutation_p.S449F	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	449	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TCTGCAGAGTCCCCCAGTTCT	0.517																																						uc003vdv.4																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(1345-1347)tCc>tTc		Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.							66.0	69.0	68.0					7																	106509352		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106509352C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.1346C>T	7.37:g.106509352C>T	ENSP00000352121:p.Ser449Phe					PIK3CG_uc003vdu.3_Missense_Mutation_p.S449F|PIK3CG_uc003vdw.3_Missense_Mutation_p.S449F	p.S449F	NM_002649	NP_002640	P48736	PK3CG_HUMAN			1	1431	+			449					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.1346C>T	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	C	1.414	-0.574626	0.03882	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.71341	-0.56;-0.56;-0.56	4.98	3.09	0.35607	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (2);	0.817886	0.11462	N	0.561642	T	0.66548	0.2800	L	0.56769	1.78	0.09310	N	1	B	0.09022	0.002	B	0.14023	0.01	T	0.60078	-0.7333	10	0.66056	D	0.02	-3.5556	11.0343	0.47791	0.0:0.7939:0.132:0.0741	.	449	P48736	PK3CG_HUMAN	F	449	ENSP00000392258:S449F;ENSP00000419260:S449F;ENSP00000352121:S449F	ENSP00000352121:S449F	S	+	2	0	PIK3CG	106296588	0.000000	0.05858	0.011000	0.14972	0.010000	0.07245	0.316000	0.19469	2.593000	0.87608	0.655000	0.94253	TCC		0.517	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1		
GCC1	79571	broad.mit.edu	37	7	127222169	127222169	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:127222169G>C	ENST00000321407.2	-	2	2651	c.2227C>G	c.(2227-2229)Ctc>Gtc	p.L743V	GCC1_ENST00000497650.1_5'Flank	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	743	GRIP. {ECO:0000255|PROSITE- ProRule:PRU00250}.				protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ATGGCTGTGAGAGTCTGCTGG	0.542																																						uc003vma.3																			0				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(2227-2229)Ctc>Gtc		Homo sapiens GRIP and coiled-coil domain containing 1 (GCC1), mRNA.							196.0	193.0	194.0					7																	127222169		2203	4300	6503	SO:0001583	missense	79571					Golgi membrane|plasma membrane	protein binding	g.chr7:127222169G>C	AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.2227C>G	7.37:g.127222169G>C	ENSP00000318821:p.Leu743Val						p.L743V	NM_024523	NP_078799	Q96CN9	GCC1_HUMAN			1	2645	-			743			GRIP.		Q9H6N7	Missense_Mutation	SNP	ENST00000321407.2	37	c.2227C>G	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091836	0.76756	.	.	ENSG00000179562	ENST00000321407	T	0.17213	2.29	5.87	5.87	0.94306	GRIP (4);	0.000000	0.85682	D	0.000000	T	0.30198	0.0757	N	0.21545	0.675	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01124	-1.1444	10	0.44086	T	0.13	-9.5481	18.0718	0.89410	0.0:0.0:1.0:0.0	.	743	Q96CN9	GCC1_HUMAN	V	743	ENSP00000318821:L743V	ENSP00000318821:L743V	L	-	1	0	GCC1	127009405	1.000000	0.71417	0.984000	0.44739	0.986000	0.74619	7.317000	0.79018	2.941000	0.99782	0.655000	0.94253	CTC		0.542	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523	
MGAM	8972	broad.mit.edu	37	7	141736628	141736628	+	Missense_Mutation	SNP	G	G	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:141736628G>T	ENST00000549489.2	+	18	2177	c.2082G>T	c.(2080-2082)caG>caT	p.Q694H	MGAM_ENST00000475668.2_Missense_Mutation_p.Q694H	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	694	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCCAGGACCAGGATCCTGCCT	0.483																																						uc003vwy.3																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(2080-2082)caG>caT		Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						147.0	153.0	151.0					7																	141736628		2135	4244	6379	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141736628G>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.2082G>T	7.37:g.141736628G>T	ENSP00000447378:p.Gln694His						p.Q694H	NM_004668	NP_004659	O43451	MGA_HUMAN			17	2136	+	Melanoma(164;0.0272)		694			Maltase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.2082G>T	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.535688	0.64972	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.92545	-3.06	5.81	4.93	0.64822	Glycoside hydrolase, superfamily (1);	0.000000	0.50627	D	0.000107	D	0.95837	0.8645	M	0.87547	2.89	0.42561	D	0.993146	D	0.89917	1.0	D	0.79108	0.992	D	0.95944	0.8949	10	0.87932	D	0	.	9.5484	0.39295	0.0748:0.0:0.7835:0.1417	.	694	O43451	MGA_HUMAN	H	694;694;571	ENSP00000447378:Q694H	ENSP00000316431:Q571H	Q	+	3	2	MGAM	141383097	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	3.398000	0.52579	1.475000	0.48197	-0.157000	0.13467	CAG		0.483	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3		
CNTNAP2	26047	broad.mit.edu	37	7	146825878	146825878	+	Missense_Mutation	SNP	G	G	A	rs145832489	byFrequency	TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:146825878G>A	ENST00000361727.3	+	7	1549	c.1033G>A	c.(1033-1035)Gtc>Atc	p.V345I		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	345	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.V345I(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTACAATGGCGTCAACATTAC	0.413										HNSCC(39;0.1)			A|||	3	0.000599042	0.0	0.0	5008	,	,		17325	0.0		0.0	False		,,,				2504	0.0031					uc003weu.2																			1	Substitution - Missense(1)	p.V345I(2)|p.G344G(1)	prostate(1)	NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(1033-1035)Gtc>Atc		Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.		A	ILE/VAL	1,4405	825.9+/-416.6	0,1,2202	114.0	116.0	115.0		1033	2.2	0.9	7	dbSNP_134	115	1,8599	818.9+/-406.8	0,1,4299	no	missense	CNTNAP2	NM_014141.5	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	345/1332	146825878	2,13004	2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146825878G>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1033G>A	7.37:g.146825878G>A	ENSP00000354778:p.Val345Ile	HNSCC(39;0.1)					p.V345I	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		6	1549	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	345			Laminin G-like 1.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1033G>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	A	13.62	2.292961	0.40594	2.27E-4	1.16E-4	ENSG00000174469	ENST00000361727	D	0.88818	-2.43	5.84	2.18	0.27775	Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.368900	0.25122	N	0.032963	T	0.76234	0.3959	N	0.12961	0.28	0.58432	D	0.999997	B	0.06786	0.001	B	0.09377	0.004	T	0.59915	-0.7364	10	0.19590	T	0.45	.	8.7851	0.34816	0.681:0.0:0.319:0.0	.	345	Q9UHC6	CNTP2_HUMAN	I	345	ENSP00000354778:V345I	ENSP00000354778:V345I	V	+	1	0	CNTNAP2	146456811	0.946000	0.32159	0.884000	0.34674	0.960000	0.62799	1.899000	0.39818	-0.075000	0.12798	-0.254000	0.11334	GTC		0.413	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1		
SSPO	23145	broad.mit.edu	37	7	149517991	149517991	+	RNA	SNP	G	G	A	rs368478065		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:149517991G>A	ENST00000378016.2	+	0	12334							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGGTGGCTGCGTGCCAATTGG	0.667																																						uc010lpk.3																			0											c.(12325-12327)Gtg>Atg		Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.		G		0,4260		0,0,2130	22.0	28.0	26.0		12348	4.5	0.8	7		26	1,8457		0,1,4228	no	coding-notMod3	SSPO	NM_198455.2		0,1,6358	AA,AG,GG		0.0118,0.0,0.0079			149517991	1,12717	2130	4229	6359			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149517991G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149517991G>A						SSPO_uc010lpm.1_5'Flank|SSPO_uc003wgg.2_5'Flank|SSPO_uc003wgh.2_5'Flank|SSPO_uc003wgi.1_5'Flank	p.V4109M	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		86	12325	+	Melanoma(164;0.165)|Ovarian(565;0.177)		4112					Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.12325G>A																																																																																					0.667	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript			
DOCK5	80005	broad.mit.edu	37	8	25159899	25159899	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr8:25159899G>A	ENST00000276440.7	+	10	949	c.905G>A	c.(904-906)cGc>cAc	p.R302H	DOCK5_ENST00000481100.1_Missense_Mutation_p.R302H	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	302					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CAGATTGTCCGCGTGGGCCAT	0.572																																					Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(904-906)cGc>cAc		Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.							89.0	67.0	75.0					8																	25159899		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25159899G>A		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.905G>A	8.37:g.25159899G>A	ENSP00000276440:p.Arg302His					DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.R16H|DOCK5_uc003xef.3_Missense_Mutation_p.R302H	p.R302H	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	9	1042	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	302					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.905G>A	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	G	35	5.531378	0.96446	.	.	ENSG00000147459	ENST00000481100;ENST00000276440	T;T	0.18338	2.22;2.22	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.51024	0.1650	M	0.89478	3.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.59994	-0.7349	10	0.87932	D	0	.	18.7828	0.91941	0.0:0.0:1.0:0.0	.	77;302	Q68DL4;Q9H7D0	.;DOCK5_HUMAN	H	302	ENSP00000429737:R302H;ENSP00000276440:R302H	ENSP00000276440:R302H	R	+	2	0	DOCK5	25215816	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	9.666000	0.98612	2.607000	0.88179	0.650000	0.86243	CGC		0.572	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940	
DOCK5	80005	broad.mit.edu	37	8	25189802	25189802	+	Missense_Mutation	SNP	T	T	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr8:25189802T>A	ENST00000276440.7	+	19	1983	c.1939T>A	c.(1939-1941)Tcc>Acc	p.S647T		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	647					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GCGTTCCAACTCCCAGAACAT	0.378																																					Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(1939-1941)Tcc>Acc		Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.							137.0	125.0	129.0					8																	25189802		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25189802T>A		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.1939T>A	8.37:g.25189802T>A	ENSP00000276440:p.Ser647Thr					DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.S361T|DOCK5_uc003xei.3_Missense_Mutation_p.S217T|DOCK5_uc003xej.3_Non-coding_Transcript	p.S647T	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	18	2076	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	647			DHR-1.		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.1939T>A	CCDS6047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.573|6.573	0.474125|0.474125	0.12521|0.12521	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000444569|ENST00000276440	.|T	.|0.20738	.|2.05	5.82|5.82	0.478|0.478	0.16789|0.16789	.|.	.|0.415325	.|0.27008	.|N	.|0.021390	T|T	0.08758|0.08758	0.0217|0.0217	N|N	0.12502|0.12502	0.225|0.225	0.30069|0.30069	N|N	0.810253|0.810253	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.06405	.|0.001;0.002;0.001	T|T	0.19877|0.19877	-1.0292|-1.0292	5|10	.|0.25751	.|T	.|0.34	.|.	4.6167|4.6167	0.12430|0.12430	0.1116:0.064:0.3485:0.4758|0.1116:0.064:0.3485:0.4758	.|.	.|637;422;647	.|D3DSS6;Q68DL4;Q9H7D0	.|.;.;DOCK5_HUMAN	H|T	418|647	.|ENSP00000276440:S647T	.|ENSP00000276440:S647T	L|S	+|+	2|1	0|0	DOCK5|DOCK5	25245719|25245719	0.745000|0.745000	0.28261|0.28261	0.958000|0.958000	0.39756|0.39756	0.989000|0.989000	0.77384|0.77384	0.287000|0.287000	0.18920|0.18920	-0.129000|-0.129000	0.11620|0.11620	-0.321000|-0.321000	0.08615|0.08615	CTC|TCC		0.378	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940	
DOCK5	80005	broad.mit.edu	37	8	25265580	25265580	+	Silent	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr8:25265580C>T	ENST00000276440.7	+	49	5219	c.5175C>T	c.(5173-5175)agC>agT	p.S1725S		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1725					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGGAGAACAGCGAGAACCGGA	0.498																																					Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(5173-5175)agC>agT		Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.							54.0	48.0	50.0					8																	25265580		2203	4300	6503	SO:0001819	synonymous_variant	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25265580C>T		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.5175C>T	8.37:g.25265580C>T						DOCK5_uc003xek.3_Intron|DOCK5_uc003xej.3_Non-coding_Transcript	p.S1725S	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	48	5312	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	1725					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Silent	SNP	ENST00000276440.7	37	c.5175C>T	CCDS6047.1																																																																																				0.498	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940	
PTK2B	2185	broad.mit.edu	37	8	27308400	27308400	+	Silent	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr8:27308400G>A	ENST00000397501.1	+	30	3283	c.2475G>A	c.(2473-2475)gaG>gaA	p.E825E	PTK2B_ENST00000397497.4_Silent_p.E529E|PTK2B_ENST00000544172.1_Silent_p.E825E|PTK2B_ENST00000420218.2_Silent_p.E783E|PTK2B_ENST00000338238.4_Silent_p.E783E|PTK2B_ENST00000346049.5_Silent_p.E825E|PTK2B_ENST00000517339.1_Silent_p.E783E	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	825	Interaction with TGFB1I1. {ECO:0000250}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	TCAGGCAGGAGGAGAAGTCCC	0.607																																						uc003xfn.2																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(2473-2475)gaG>gaA		Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.							96.0	85.0	89.0					8																	27308400		2203	4300	6503	SO:0001819	synonymous_variant	2185				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	g.chr8:27308400G>A	U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"""protein tyrosine kinase 2 beta"", ""PTK2B protein tyrosine kinase 2 beta"""	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.2475G>A	8.37:g.27308400G>A						PTK2B_uc022ate.1_Silent_p.E825E|PTK2B_uc003xfp.2_Silent_p.E825E|PTK2B_uc003xfq.2_Silent_p.E783E|PTK2B_uc003xfs.1_Silent_p.E22E	p.E825E	NM_173174	NP_775268	Q14289	FAK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	29	3283	+		Ovarian(32;2.72e-05)	825			Interaction with TGFB1I1 (By similarity).		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Silent	SNP	ENST00000397501.1	37	c.2475G>A	CCDS6057.1																																																																																				0.607	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103	
ADAM32	203102	broad.mit.edu	37	8	39111964	39111964	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr8:39111964C>T	ENST00000379907.4	+	18	2061	c.1934C>T	c.(1933-1935)tCg>tTg	p.S645L	ADAM32_ENST00000519315.1_Missense_Mutation_p.S539L|ADAM32_ENST00000437682.2_Missense_Mutation_p.S546L	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	645	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.					integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TGCCATTGTTCGCCAGGCTAT	0.363																																						uc003xmt.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31						c.(1933-1935)tCg>tTg		Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.							48.0	46.0	47.0					8																	39111964		1831	4079	5910	SO:0001583	missense	203102				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:39111964C>T	BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"""ADAM metallopeptidase domain containing"""	15479	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 32"""			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.1934C>T	8.37:g.39111964C>T	ENSP00000369238:p.Ser645Leu					ADAM32_uc011lch.2_Missense_Mutation_p.S546L|ADAM32_uc003xmu.4_Missense_Mutation_p.S539L|ADAM32_uc003xmv.3_Missense_Mutation_p.S69L	p.S645L	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)		17	2179	+		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	645			EGF-like.		Q8TC42	Missense_Mutation	SNP	ENST00000379907.4	37	c.1934C>T	CCDS47846.1	.	.	.	.	.	.	.	.	.	.	C	1.419	-0.573413	0.03882	.	.	ENSG00000197140	ENST00000437682;ENST00000519315;ENST00000379907	D;D;D	0.87491	-2.26;-2.26;-2.26	4.06	-7.54	0.01332	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	3.647890	0.01190	N	0.007305	T	0.80177	0.4575	M	0.66939	2.045	0.09310	N	1	P;P;B;B	0.52170	0.87;0.951;0.114;0.074	B;B;B;B	0.36092	0.101;0.217;0.011;0.031	T	0.75434	-0.3319	10	0.30078	T	0.28	.	5.7257	0.18013	0.5765:0.1463:0.0:0.2773	.	546;69;539;645	E7EPX8;Q6ZP86;E7ER82;Q8TC27	.;.;.;ADA32_HUMAN	L	546;539;645	ENSP00000405978:S546L;ENSP00000429422:S539L;ENSP00000369238:S645L	ENSP00000369238:S645L	S	+	2	0	ADAM32	39231121	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.431000	0.02432	-1.735000	0.01353	-0.314000	0.08810	TCG		0.363	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1	NM_145004	
JPH1	56704	broad.mit.edu	37	8	75227467	75227467	+	Silent	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr8:75227467C>T	ENST00000342232.4	-	2	808	c.768G>A	c.(766-768)acG>acA	p.T256T		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	256	Ser-rich.				calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CAAAGCTGATCGTGGAGTTGG	0.557																																						uc003yae.3																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24						c.(766-768)acG>acA		Homo sapiens junctophilin 1 (JPH1), mRNA.							91.0	86.0	88.0					8																	75227467		2203	4300	6503	SO:0001819	synonymous_variant	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75227467C>T	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.768G>A	8.37:g.75227467C>T						JPH1_uc003yaf.3_Silent_p.T256T|JPH1_uc003yag.1_Silent_p.T120T	p.T256T	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		1	808	-	Breast(64;0.00576)		256			Ser-rich.		B2RTZ0	Silent	SNP	ENST00000342232.4	37	c.768G>A	CCDS6217.1																																																																																				0.557	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1		
DCSTAMP	81501	broad.mit.edu	37	8	105361318	105361318	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr8:105361318C>T	ENST00000297581.2	+	2	587	c.538C>T	c.(538-540)Cat>Tat	p.H180Y	DCSTAMP_ENST00000517991.1_Missense_Mutation_p.H180Y|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	180					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											CAGTCCCAGCCATGTCCTGGA	0.507																																						uc003ylx.1																			0											c.(538-540)Cat>Tat		Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA.							96.0	92.0	94.0					8																	105361318		2203	4300	6503	SO:0001583	missense	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105361318C>T	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.538C>T	8.37:g.105361318C>T	ENSP00000297581:p.His180Tyr						p.H180Y	NM_030788	NP_110415	Q9H295	TM7S4_HUMAN			1	587	+			180					B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	ENST00000297581.2	37	c.538C>T	CCDS6301.1	.	.	.	.	.	.	.	.	.	.	C	5.883	0.347046	0.11126	.	.	ENSG00000164935	ENST00000297581;ENST00000517991	T	0.31510	1.49	5.53	2.68	0.31781	.	1.067540	0.07103	N	0.840827	T	0.22044	0.0531	L	0.36672	1.1	0.09310	N	1	B	0.28971	0.229	B	0.25759	0.063	T	0.27331	-1.0077	9	.	.	.	-0.4111	4.3527	0.11163	0.1154:0.3585:0.4327:0.0934	.	180	Q9H295	TM7S4_HUMAN	Y	180	ENSP00000297581:H180Y	.	H	+	1	0	TM7SF4	105430494	0.009000	0.17119	0.064000	0.19789	0.234000	0.25298	0.701000	0.25616	0.703000	0.31848	0.561000	0.74099	CAT		0.507	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788	
CNTNAP3	79937	broad.mit.edu	37	9	39176040	39176040	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr9:39176040C>T	ENST00000297668.6	-	7	1050	c.977G>A	c.(976-978)cGt>cAt	p.R326H	CNTNAP3_ENST00000323947.7_Missense_Mutation_p.R326H|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.R238H|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.R326H|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.R326H|CNTNAP3_ENST00000377653.2_5'UTR	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	326	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		AAAGCTTTTACGTCTGAATGC	0.388																																						uc004abi.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24						c.(976-978)cGt>cAt		Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.							68.0	75.0	73.0					9																	39176040		2200	4297	6497	SO:0001583	missense	79937				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	g.chr9:39176040C>T	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.977G>A	9.37:g.39176040C>T	ENSP00000297668:p.Arg326His					CNTNAP3_uc004abj.3_Missense_Mutation_p.R326H|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Missense_Mutation_p.R326H|CNTNAP3_uc011lqs.1_Missense_Mutation_p.R326H	p.R326H	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	6	1216	-			326			Laminin G-like 1.		B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	37	c.977G>A	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	C	1.848	-0.465790	0.04476	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000323947;ENST00000377659;ENST00000377653	T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2	3.0	-1.41	0.08941	Concanavalin A-like lectin/glucanase (2);Concanavalin A-like lectin/glucanase, subgroup (2);Laminin G domain (4);Laminin G, subdomain 2 (2);	.	.	.	.	T	0.53126	0.1777	N	0.12637	0.245	0.09310	N	1	B;B;B;B;B	0.19706	0.006;0.024;0.038;0.017;0.024	B;B;B;B;B	0.18263	0.01;0.021;0.014;0.01;0.014	T	0.38564	-0.9655	9	0.07175	T	0.84	.	8.2957	0.31984	0.0:0.4818:0.0:0.5182	.	326;326;326;326;326	E2QRH2;Q96NU0;Q9BZ76-2;A6NC89;Q9BZ76	.;CNT3B_HUMAN;.;.;CNTP3_HUMAN	H	326;326;238;326;326;238	ENSP00000297668:R326H;ENSP00000366884:R326H;ENSP00000350863:R238H;ENSP00000320728:R326H;ENSP00000366887:R326H	ENSP00000297668:R326H	R	-	2	0	CNTNAP3	39166040	0.000000	0.05858	0.073000	0.20177	0.104000	0.19210	-0.200000	0.09478	-0.421000	0.07416	0.460000	0.39030	CGT		0.388	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655	
FOXD4L5	653427	broad.mit.edu	37	9	70177155	70177155	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr9:70177155C>T	ENST00000377420.1	-	1	1660	c.829G>A	c.(829-831)Gtc>Atc	p.V277I		NM_001126334.1	NP_001119806.1	Q5VV16	FX4L5_HUMAN	forkhead box D4-like 5	277					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|lung(2)	7						CCGGCATAGACGGGGGCCGAG	0.687																																						uc010moc.3																			0				endometrium(5)|lung(2)	7						c.(829-831)Gtc>Atc		Homo sapiens forkhead box D4-like 5 (FOXD4L5), mRNA.							2.0	3.0	3.0					9																	70177155		498	1280	1778	SO:0001583	missense	653427				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:70177155C>T		CCDS47977.1	9q13	2008-07-21			ENSG00000204779	ENSG00000204779			18522	protein-coding gene	gene with protein product						12234674	Standard	NM_001126334		Approved	bA15J10.2, OTTHUMG00000013332	uc010moc.3	Q5VV16	OTTHUMG00000013332	ENST00000377420.1:c.829G>A	9.37:g.70177155C>T	ENSP00000366637:p.Val277Ile						p.V277I	NM_001126334	NP_001119806	Q5VV16	FX4L5_HUMAN			0	1661	-			277						Missense_Mutation	SNP	ENST00000377420.1	37	c.829G>A	CCDS47977.1	.	.	.	.	.	.	.	.	.	.	c	13.22	2.171371	0.38315	.	.	ENSG00000204779	ENST00000377420	D	0.93763	-3.28	1.07	1.07	0.20283	.	0.667620	0.11909	U	0.517821	D	0.83519	0.5272	N	0.08118	0	0.21290	N	0.999735	B	0.13145	0.007	B	0.04013	0.001	T	0.74312	-0.3706	10	0.54805	T	0.06	.	7.6881	0.28552	0.0:1.0:0.0:0.0	.	277	Q5VV16	FX4L5_HUMAN	I	277	ENSP00000366637:V277I	ENSP00000366637:V277I	V	-	1	0	FOXD4L5	69466975	0.070000	0.21116	0.278000	0.24718	0.166000	0.22503	1.251000	0.32862	0.534000	0.28695	0.074000	0.15403	GTC		0.687	FOXD4L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037122.1	NM_001126334	
SPATA31D5P	347127	broad.mit.edu	37	9	84530455	84530455	+	RNA	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr9:84530455G>A	ENST00000527857.1	+	0	477					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		GTCCCTGAAAGATGCTGTTCC	0.537																																						uc011lst.2																			0											c.(376-378)Gat>Aat		Homo sapiens family with sequence similarity 75, member D5, pseudogene (FAM75D5), non-coding RNA.																																						347127							g.chr9:84530455G>A			9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84530455G>A							p.D126N							3	477	+									Missense_Mutation	SNP	ENST00000527857.1	37	c.376G>A																																																																																					0.537	SPATA31D5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052810.2	NR_026851	
PAPPA	5069	broad.mit.edu	37	9	118949533	118949533	+	Missense_Mutation	SNP	C	C	G	rs141909455		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr9:118949533C>G	ENST00000328252.3	+	2	885	c.516C>G	c.(514-516)ttC>ttG	p.F172L	PAPPA_ENST00000534838.1_5'Flank	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	172					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GCTACTTTTTCTCCTTGAAGA	0.537																																						uc004bjn.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(514-516)ttC>ttG		Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.							83.0	81.0	82.0					9																	118949533		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118949533C>G		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.516C>G	9.37:g.118949533C>G	ENSP00000330658:p.Phe172Leu					PAPPA_uc011lxp.1_5'UTR|PAPPA_uc011lxq.2_5'UTR	p.F172L	NM_002581	NP_002572	Q13219	PAPP1_HUMAN			1	897	+			172					B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.516C>G	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283119	0.80803	.	.	ENSG00000182752	ENST00000328252	T	0.74947	-0.89	6.07	5.17	0.71159	Concanavalin A-like lectin/glucanase (1);LamG-like jellyroll fold (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.83714	0.5314	M	0.66378	2.025	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.85306	0.1076	10	0.87932	D	0	-27.4794	12.0971	0.53761	0.0:0.8633:0.0:0.1367	.	172	Q13219	PAPP1_HUMAN	L	172	ENSP00000330658:F172L	ENSP00000330658:F172L	F	+	3	2	PAPPA	117989354	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.309000	0.51903	1.570000	0.49709	0.655000	0.94253	TTC		0.537	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581	
NUP214	8021	broad.mit.edu	37	9	134016058	134016058	+	Nonsense_Mutation	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr9:134016058C>T	ENST00000359428.5	+	11	1399	c.1255C>T	c.(1255-1257)Cga>Tga	p.R419*	RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|NUP214_ENST00000411637.2_Nonsense_Mutation_p.R419*|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|NUP214_ENST00000451030.1_Nonsense_Mutation_p.R419*|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	419					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AACACCAGAGCGACTTTCATT	0.433			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	uc004cag.3				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"""DEK, SET, ABL1"""		"""AML, T-ALL"""		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(1255-1257)Cga>Tga		Homo sapiens nucleoporin 214kDa (NUP214), mRNA.							113.0	110.0	111.0					9																	134016058		2203	4300	6503	SO:0001587	stop_gained	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134016058C>T	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.1255C>T	9.37:g.134016058C>T	ENSP00000352400:p.Arg419*					NUP214_uc004cah.3_Nonsense_Mutation_p.R419*|NUP214_uc004caf.1_Nonsense_Mutation_p.R419*	p.R419*	NM_005085	NP_005076	P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	10	1366	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	419					A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Nonsense_Mutation	SNP	ENST00000359428.5	37	c.1255C>T	CCDS6940.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.3|27.3	4.823364|4.823364	0.90873|0.90873	.|.	.|.	ENSG00000126883|ENSG00000126883	ENST00000530863|ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375	.|.	.|.	.|.	5.91|5.91	4.99|4.99	0.66335|0.66335	.|.	.|0.896444	.|0.09179	.|N	.|0.837770	T|.	0.46073|.	0.1374|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.40496|.	-0.9560|.	3|.	.|0.10377	.|T	.|0.69	-30.1883|-30.1883	15.0046|15.0046	0.71501|0.71501	0.154:0.846:0.0:0.0|0.154:0.846:0.0:0.0	.|.	.|.	.|.	.|.	V|X	90|419	.|.	.|ENSP00000352400:R419X	A|R	+|+	2|1	0|2	NUP214|NUP214	133005879|133005879	0.005000|0.005000	0.15991|0.15991	0.832000|0.832000	0.32986|0.32986	0.059000|0.059000	0.15707|0.15707	0.402000|0.402000	0.20965|0.20965	1.445000|1.445000	0.47624|0.47624	0.655000|0.655000	0.94253|0.94253	GCG|CGA		0.433	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085	
DMD	1756	broad.mit.edu	37	X	32486813	32486813	+	Silent	SNP	A	A	G			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chrX:32486813A>G	ENST00000357033.4	-	23	3170	c.2964T>C	c.(2962-2964)tcT>tcC	p.S988S	DMD_ENST00000378677.2_Silent_p.S984S	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	988					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GCTCTTGCAGAGAACTTTGTA	0.333																																						uc004dda.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(2962-2964)tcT>tcC		Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.							52.0	46.0	48.0					X																	32486813		2201	4297	6498	SO:0001819	synonymous_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32486813A>G	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.2964T>C	X.37:g.32486813A>G						DMD_uc004dcz.2_Silent_p.S865S|DMD_uc004dcy.1_Silent_p.S984S|DMD_uc004ddb.1_Silent_p.S980S|DMD_uc010ngo.1_Intron	p.S988S	NM_004006	NP_004001	P11532	DMD_HUMAN			22	3208	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	988					E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	c.2964T>C	CCDS14233.1																																																																																				0.333	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
RPGR	6103	broad.mit.edu	37	X	38182768	38182768	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chrX:38182768G>A	ENST00000339363.3	-	2	205	c.38C>T	c.(37-39)gCt>gTt	p.A13V	RPGR_ENST00000338898.3_Missense_Mutation_p.A13V|RPGR_ENST00000378505.2_Missense_Mutation_p.A13V|RPGR_ENST00000309513.3_Missense_Mutation_p.A13V|RPGR_ENST00000342811.3_Missense_Mutation_p.A13V|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000318842.7_Missense_Mutation_p.A13V			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	13					cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						TGTAAACACAGCACCCGAATC	0.318																																						uc004ded.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						c.(37-39)gCt>gTt		Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant C, mRNA.							47.0	45.0	45.0					X																	38182768		2201	4299	6500	SO:0001583	missense	6103				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	g.chrX:38182768G>A	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.38C>T	X.37:g.38182768G>A	ENSP00000343671:p.Ala13Val					RPGR_uc004deb.3_Missense_Mutation_p.A13V|RPGR_uc004dea.3_Non-coding_Transcript|RPGR_uc004dec.3_Non-coding_Transcript	p.A13V	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN			1	206	-			13					B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	ENST00000339363.3	37	c.38C>T		.	.	.	.	.	.	.	.	.	.	G	20.8	4.054025	0.75960	.	.	ENSG00000156313	ENST00000339363;ENST00000309513;ENST00000338898;ENST00000318842;ENST00000342811;ENST00000378505	T;T;T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42;-1.42;-1.42	5.6	5.6	0.85130	.	0.000000	0.85682	U	0.000000	D	0.91459	0.7304	M	0.88377	2.95	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.92237	0.5797	10	0.52906	T	0.07	.	18.2261	0.89917	0.0:0.0:1.0:0.0	.	13;13	E9PE28;Q92834-2	.;.	V	13	ENSP00000343671:A13V;ENSP00000308783:A13V;ENSP00000340208:A13V;ENSP00000322219:A13V;ENSP00000339531:A13V;ENSP00000367766:A13V	ENSP00000308783:A13V	A	-	2	0	RPGR	38067712	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	9.254000	0.95512	2.342000	0.79632	0.513000	0.50165	GCT		0.318	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000328	
BHLHB9	80823	broad.mit.edu	37	X	102004542	102004543	+	Frame_Shift_Ins	INS	-	-	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chrX:102004542_102004543insA	ENST00000372735.1	+	4	1204_1205	c.619_620insA	c.(619-621)gaafs	p.E207fs	BHLHB9_ENST00000457056.1_Frame_Shift_Ins_p.E207fs|BHLHB9_ENST00000447531.1_Frame_Shift_Ins_p.E207fs|BHLHB9_ENST00000448867.1_Frame_Shift_Ins_p.E207fs|BHLHB9_ENST00000361229.4_Frame_Shift_Ins_p.E207fs			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	207					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGAAATTAATGAAAAAAATAGG	0.45																																						uc022cbi.1																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(619-621)gaafs		Homo sapiens basic helix-loop-helix domain containing, class B, 9 (BHLHB9), transcript variant 2, mRNA.																																				SO:0001589	frameshift_variant	80823					cytoplasm|nucleus	binding	g.chrX:102004542_102004543insA	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"""Basic helix-loop-helix proteins"", ""Armadillo repeat containing"""	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.626dupA	X.37:g.102004549_102004549dupA	ENSP00000361820:p.Glu207fs					BHLHB9_uc010nog.3_Frame_Shift_Ins_p.E207fs|BHLHB9_uc011mrq.2_Frame_Shift_Ins_p.E207fs|BHLHB9_uc011mrr.2_Frame_Shift_Ins_p.E207fs|BHLHB9_uc011mrs.2_Frame_Shift_Ins_p.E207fs|BHLHB9_uc011mrt.2_Frame_Shift_Ins_p.E207fs|BHLHB9_uc004ejo.3_Frame_Shift_Ins_p.E207fs|BHLHB9_uc011mru.2_Frame_Shift_Ins_p.E207fs|BHLHB9_uc011mrv.2_Frame_Shift_Ins_p.E207fs	p.E207fs	NM_030639	NP_085142	Q6PI77	BHLH9_HUMAN			0	619_620	+			207					Q9C0G2	Frame_Shift_Ins	INS	ENST00000372735.1	37	c.619_620insA	CCDS14502.1																																																																																				0.450	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639	
IL1RAPL2	26280	broad.mit.edu	37	X	105011591	105011591	+	Missense_Mutation	SNP	C	C	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chrX:105011591C>A	ENST00000372582.1	+	11	2754	c.1998C>A	c.(1996-1998)caC>caA	p.H666Q	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.H666Q	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	666					central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGGAATTTCACAGGAACAGTT	0.428																																						uc004elz.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1996-1998)caC>caA		Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.							122.0	121.0	121.0					X																	105011591		2203	4300	6503	SO:0001583	missense	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:105011591C>A	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1998C>A	X.37:g.105011591C>A	ENSP00000361663:p.His666Gln						p.H666Q	NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN			10	2754	+			666					Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	c.1998C>A	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	T	7.687	0.690198	0.15039	.	.	ENSG00000189108	ENST00000372582;ENST00000344799;ENST00000538500	T;T;T	0.04917	3.79;3.79;3.53	5.83	0.403	0.16350	.	0.243798	0.36409	N	0.002610	T	0.05410	0.0143	L	0.52759	1.655	0.37901	D	0.931056	B	0.02656	0.0	B	0.04013	0.001	T	0.35798	-0.9774	10	0.56958	D	0.05	.	2.016	0.03498	0.1307:0.332:0.1265:0.4107	.	666	Q9NP60	IRPL2_HUMAN	Q	666;666;271	ENSP00000361663:H666Q;ENSP00000344976:H666Q;ENSP00000445576:H271Q	ENSP00000344976:H666Q	H	+	3	2	IL1RAPL2	104898247	0.070000	0.21116	0.937000	0.37676	0.633000	0.38033	-0.600000	0.05693	-0.628000	0.05582	-1.090000	0.02178	CAC		0.428	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416	
COL4A5	1287	broad.mit.edu	37	X	107841977	107841977	+	Missense_Mutation	SNP	G	G	A	rs104886135		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chrX:107841977G>A	ENST00000361603.2	+	25	2069	c.1825G>A	c.(1825-1827)Ggt>Agt	p.G609S	COL4A5_ENST00000328300.6_Missense_Mutation_p.G609S	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	609	Triple-helical region.		G -> R (in APSX; juvenile type).|G -> V (in APSX; juvenile type).		axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TGGGAACCCAGGTTTACCAGG	0.483									Alport syndrome with Diffuse Leiomyomatosis																													uc022ccg.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99	GRCh37	CM960367	COL4A5	M	rs104886135	c.(1825-1827)Ggt>Agt		Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.							84.0	90.0	88.0					X																	107841977		2203	4300	6503	SO:0001583	missense	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107841977G>A	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.1825G>A	X.37:g.107841977G>A	ENSP00000354505:p.Gly609Ser					COL4A5_uc004enz.1_Missense_Mutation_p.G609S|COL4A5_uc004eob.1_Missense_Mutation_p.G217S	p.G609S	NM_033380	NP_203699	P29400	CO4A5_HUMAN			24	2027	+			609		G -> R (in APSX; juvenile type).|G -> V (in APSX; juvenile type).	Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.1825G>A	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.610885	0.87258	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.99329	-5.75;-5.75	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.99674	0.9878	H	0.96970	3.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.97541	1.0086	10	0.87932	D	0	.	19.251	0.93925	0.0:0.0:1.0:0.0	.	609;217;609	E7EVY4;Q49AM6;P29400	.;.;CO4A5_HUMAN	S	609	ENSP00000331902:G609S;ENSP00000354505:G609S	ENSP00000331902:G609S	G	+	1	0	COL4A5	107728633	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.188000	0.94921	2.498000	0.84270	0.600000	0.82982	GGT		0.483	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2		
