#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
EXTL1	2134	broad.mit.edu	37	1	26360290	26360290	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr1:26360290C>T	ENST00000374280.3	+	9	2489	c.1622C>T	c.(1621-1623)aCt>aTt	p.T541I		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	541					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGGCTACACTGCTGAGAGG	0.577																																						uc001blf.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23						c.(1621-1623)aCt>aTt		Homo sapiens exostoses (multiple)-like 1 (EXTL1), mRNA.							98.0	93.0	95.0					1																	26360290		2203	4300	6503	SO:0001583	missense	2134				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	g.chr1:26360290C>T	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"""Exostosin glycosyltransferase family"""	3515	protein-coding gene	gene with protein product	"""glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""alpha-N-acetylglucosaminyltransferase II"", ""glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase"", ""exostosin-L"""	601738	"""exostoses (multiple)-like 1"""			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.1622C>T	1.37:g.26360290C>T	ENSP00000363398:p.Thr541Ile						p.T541I	NM_004455	NP_004446	Q92935	EXTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)	8	2489	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	541					Q6GSC1	Missense_Mutation	SNP	ENST00000374280.3	37	c.1622C>T	CCDS271.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.576623	0.86645	.	.	ENSG00000158008	ENST00000374280	D	0.86562	-2.14	4.88	3.94	0.45596	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.131457	0.49916	D	0.000138	D	0.89434	0.6714	M	0.82193	2.58	0.45427	D	0.998401	P	0.37158	0.585	B	0.42959	0.403	D	0.89367	0.3672	10	0.49607	T	0.09	-4.6168	13.8078	0.63243	0.0:0.839:0.161:0.0	.	541	Q92935	EXTL1_HUMAN	I	541	ENSP00000363398:T541I	ENSP00000363398:T541I	T	+	2	0	EXTL1	26232877	1.000000	0.71417	0.975000	0.42487	0.971000	0.66376	5.896000	0.69822	1.233000	0.43693	0.561000	0.74099	ACT		0.577	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455	
COL24A1	255631	broad.mit.edu	37	1	86590905	86590905	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr1:86590905T>G	ENST00000370571.2	-	3	1480	c.1114A>C	c.(1114-1116)Aac>Cac	p.N372H	COL24A1_ENST00000436319.1_Missense_Mutation_p.N372H	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	372					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TCAGACATGTTTAGGAGAGAG	0.378																																						uc001dlj.3																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(1114-1116)Aac>Cac		Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.							159.0	140.0	146.0					1																	86590905		1916	4121	6037	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86590905T>G	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.1114A>C	1.37:g.86590905T>G	ENSP00000359603:p.Asn372His					COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_5'UTR|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript|COL24A1_uc009wcq.3_Missense_Mutation_p.N372H	p.N372H	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	2	1189	-			372					C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.1114A>C	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	T	2.043	-0.419620	0.04734	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.17854	2.25;2.25	5.45	0.664	0.17890	.	0.619116	0.13395	N	0.391055	T	0.02230	0.0069	L	0.27053	0.805	0.09310	N	1	B;B	0.14805	0.011;0.002	B;B	0.17098	0.017;0.002	T	0.47275	-0.9130	10	0.13108	T	0.6	.	1.8691	0.03204	0.2545:0.0732:0.2315:0.4408	.	372;372	F8WDM8;Q17RW2	.;COOA1_HUMAN	H	372	ENSP00000359603:N372H;ENSP00000392531:N372H	ENSP00000359603:N372H	N	-	1	0	COL24A1	86363493	0.788000	0.28762	0.000000	0.03702	0.024000	0.10985	2.077000	0.41557	-0.142000	0.11354	0.460000	0.39030	AAC		0.378	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890	
OR2G2	81470	broad.mit.edu	37	1	247751819	247751819	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr1:247751819G>A	ENST00000320065.1	+	1	158	c.158G>A	c.(157-159)cGt>cAt	p.R53H	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTGGTTTCTCGTCTGGAACCC	0.418																																						uc010pyy.2																			0				endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(157-159)cGt>cAt		Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.							260.0	238.0	246.0					1																	247751819		2203	4300	6503	SO:0001583	missense	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247751819G>A	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.158G>A	1.37:g.247751819G>A	ENSP00000326349:p.Arg53His						p.R53H	NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		0	158	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		53					Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	ENST00000320065.1	37	c.158G>A	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.412501	0.01145	.	.	ENSG00000177489	ENST00000320065	T	0.01076	5.37	3.87	-5.57	0.02521	GPCR, rhodopsin-like superfamily (1);	2.124560	0.03063	N	0.156082	T	0.01156	0.0038	L	0.39633	1.23	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.47711	-0.9096	10	0.14656	T	0.56	.	6.0996	0.20039	0.5326:0.0:0.3405:0.1268	.	53	Q8NGZ5	OR2G2_HUMAN	H	53	ENSP00000326349:R53H	ENSP00000326349:R53H	R	+	2	0	OR2G2	245818442	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-1.280000	0.02804	-1.755000	0.01320	-0.232000	0.12228	CGT		0.418	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1		
PTEN	5728	broad.mit.edu	37	10	89692830	89692830	+	Missense_Mutation	SNP	G	G	A	rs587782343		TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr10:89692830G>A	ENST00000371953.3	+	5	1671	c.314G>A	c.(313-315)tGt>tAt	p.C105Y		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	105	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		C -> F (in BRRS; loss of phosphatase activity towards Ins(1,3,4,5)P4).|C -> Y (in BRRS). {ECO:0000269|PubMed:10400993, ECO:0000269|PubMed:11494117}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.C105F(6)|p.?(5)|p.R55fs*1(5)|p.C105S(3)|p.Y27fs*1(2)|p.C105Y(2)|p.C105fs*1(1)|p.F56fs*2(1)|p.P103fs*3(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAACCCTTTTGTGAAGATCTT	0.373		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		63	Whole gene deletion(37)|Substitution - Missense(11)|Deletion - Frameshift(10)|Unknown(5)	p.0?(37)|p.C105F(12)|p.C105S(6)|p.?(5)|p.R55fs*1(5)|p.C105Y(4)|p.C105W(4)|p.C105fs*2(2)|p.Y27fs*1(2)|p.C105fs*1(2)|p.Y27_N212>Y(2)|p.C105G(1)|p.C105R(1)|p.F56fs*2(1)|p.P103fs*3(1)	central_nervous_system(23)|prostate(16)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|soft_tissue(1)|endometrium(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM991080	PTEN	M		c.(313-315)tGt>tAt		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							112.0	104.0	106.0					10																	89692830		2203	4297	6500	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692830G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.314G>A	10.37:g.89692830G>A	ENSP00000361021:p.Cys105Tyr	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.C105Y	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	4	1346	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	105		C -> F (in BZS; loss of phosphatase activity towards Ins(1,3,4,5)P4).|C -> Y (in BZS).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.314G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628440	0.87560	.	.	ENSG00000171862	ENST00000371953	D	0.85411	-1.98	5.07	5.07	0.68467	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93890	0.8045	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94848	0.8011	9	.	.	.	-9.9762	18.4584	0.90729	0.0:0.0:1.0:0.0	.	105	P60484	PTEN_HUMAN	Y	105	ENSP00000361021:C105Y	.	C	+	2	0	PTEN	89682810	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.425000	0.97467	2.318000	0.78349	0.655000	0.94253	TGT		0.373	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
RPL13AP20	387841	broad.mit.edu	37	12	13028751	13028751	+	IGR	SNP	G	G	C	rs199863259		TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr12:13028751G>C								DDX47 (45836 upstream) : GPRC5A (14964 downstream)																							GGTGTTTGACGGCATCCCACC	0.612																																						uc010sho.2																			0											c.(319-321)Ggc>Cgc		Homo sapiens ribosomal protein L13a pseudogene 20 (RPL13AP20), non-coding RNA.																																				SO:0001628	intergenic_variant	387841							g.chr12:13028751G>C																													12.37:g.13028751G>C							p.G107R							0	341	+									Missense_Mutation	SNP		37	c.319G>C																																																																																				0	0.612								
SYNJ2BP	55333	broad.mit.edu	37	14	70839825	70839825	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr14:70839825T>C	ENST00000256366.4	-	4	402	c.321A>G	c.(319-321)atA>atG	p.I107M	SYNJ2BP_ENST00000554216.1_5'UTR|SYNJ2BP-COX16_ENST00000555276.1_RNA	NM_018373.2	NP_060843.2	P57105	SYJ2B_HUMAN	synaptojanin 2 binding protein	107					intracellular distribution of mitochondria (GO:0048312)|negative regulation of activin receptor signaling pathway (GO:0032926)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of receptor internalization (GO:0002092)	cell surface (GO:0009986)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrion (GO:0005739)				central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377)		CTCGATGTCCTATAGGTCCAT	0.473																																						uc021rvn.1																			0											c.(319-321)atA>atG		Homo sapiens SYNJ2BP-COX16 readthrough (SYNJ2BP-COX16), transcript variant 1, mRNA.							129.0	105.0	113.0					14																	70839825		2203	4300	6503	SO:0001583	missense	55333							g.chr14:70839825T>C	AK002133	CCDS9803.1	14q24.2	2013-05-10			ENSG00000213463	ENSG00000213463			18955	protein-coding gene	gene with protein product	"""activin receptor interacting protein 5"""	609411				11882656	Standard	NM_018373		Approved	Arip2		P57105	OTTHUMG00000171240	ENST00000256366.4:c.321A>G	14.37:g.70839825T>C	ENSP00000256366:p.Ile107Met					SYNJ2BP-COX16_uc021rvm.1_Intron|SYNJ2BP-COX16_uc021rvo.1_Intron|SYNJ2BP-COX16_uc001xmc.4_Missense_Mutation_p.I107M	p.I107M	NM_001202547	NP_001189476					3	448	-								Q49SH3|Q96IA4	Missense_Mutation	SNP	ENST00000256366.4	37	c.321A>G	CCDS9803.1	.	.	.	.	.	.	.	.	.	.	T	11.76	1.734123	0.30684	.	.	ENSG00000213463	ENST00000256366	T	0.18174	2.23	5.45	0.293	0.15742	PDZ/DHR/GLGF (1);	1.368040	0.04586	N	0.395911	T	0.09774	0.0240	N	0.22421	0.69	0.21762	N	0.999557	B	0.09022	0.002	B	0.17098	0.017	T	0.32428	-0.9907	10	0.14656	T	0.56	-0.0049	1.0439	0.01565	0.191:0.1251:0.3336:0.3503	.	107	P57105	SYJ2B_HUMAN	M	107	ENSP00000256366:I107M	ENSP00000256366:I107M	I	-	3	3	SYNJ2BP	69909578	0.000000	0.05858	0.481000	0.27354	0.992000	0.81027	-0.398000	0.07259	0.146000	0.19002	0.533000	0.62120	ATA		0.473	SYNJ2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412472.1	NM_018373	
DNAH3	55567	broad.mit.edu	37	16	20994175	20994175	+	Missense_Mutation	SNP	C	C	T	rs544149586		TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr16:20994175C>T	ENST00000261383.3	-	49	7726	c.7727G>A	c.(7726-7728)cGc>cAc	p.R2576H	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2576	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.R2576H(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CATCCGCAGGCGGTTCCTGAA	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		16459	0.0		0.0	False		,,,				2504	0.001					uc010vbe.2																			2	Substitution - Missense(2)	p.R2576H(3)	large_intestine(2)	NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(7726-7728)cGc>cAc		Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.							103.0	99.0	100.0					16																	20994175		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20994175C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.7727G>A	16.37:g.20994175C>T	ENSP00000261383:p.Arg2576His					DNAH3_uc010vbd.2_Missense_Mutation_p.R11H	p.R2576H	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	48	7727	-			2576			AAA 4 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.7727G>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	34	5.339835	0.95783	.	.	ENSG00000158486	ENST00000261383	T	0.57273	0.41	5.83	4.89	0.63831	Dynein heavy chain, P-loop containing D4 domain (1);	0.064404	0.64402	D	0.000006	T	0.76737	0.4029	M	0.88512	2.96	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82099	-0.0625	10	0.72032	D	0.01	.	15.2161	0.73267	0.0:0.9326:0.0:0.0674	.	2576	Q8TD57	DYH3_HUMAN	H	2576	ENSP00000261383:R2576H	ENSP00000261383:R2576H	R	-	2	0	DNAH3	20901676	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.904000	0.63279	1.484000	0.48361	0.655000	0.94253	CGC		0.507	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
CDH8	1006	broad.mit.edu	37	16	61687974	61687974	+	Silent	SNP	C	C	T			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr16:61687974C>T	ENST00000577390.1	-	12	2892	c.1938G>A	c.(1936-1938)cgG>cgA	p.R646R	CDH8_ENST00000299345.6_Silent_p.R646R|CDH8_ENST00000577730.1_Silent_p.R646R	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	646					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CATTTTTATGCCGCCGTAGAG	0.388																																						uc002eog.2																			0		p.R646Q(1)|p.R646L(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(1936-1938)cgG>cgA		Homo sapiens cadherin 8, type 2 (CDH8), mRNA.							65.0	64.0	64.0					16																	61687974		2203	4300	6503	SO:0001819	synonymous_variant	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61687974C>T	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1938G>A	16.37:g.61687974C>T							p.R646R	NM_001796	NP_001787	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	11	2893	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	646					B3KWC1|Q14DC6|Q9ULB2	Silent	SNP	ENST00000577390.1	37	c.1938G>A	CCDS10802.1																																																																																				0.388	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796	
FXR2	9513	broad.mit.edu	37	17	7507356	7507357	+	Frame_Shift_Ins	INS	-	-	C			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr17:7507356_7507357insC	ENST00000250113.7	-	4	604_605	c.270_271insG	c.(268-273)tggctgfs	p.L91fs		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	91	Agenet-like 2.					cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.?(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		ACCCGGGCCAGCCACCAGCCAC	0.441																																						uc002gia.2																			1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26						c.(268-273)tggctgfs		Homo sapiens fragile X mental retardation, autosomal homolog 2 (FXR2), mRNA.																																				SO:0001589	frameshift_variant	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7507356_7507357insC	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.271dupG	17.37:g.7507358_7507358dupC	ENSP00000250113:p.Leu91fs						p.W90fs	NM_004860	NP_004851	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	3	635_636	-			90					B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Frame_Shift_Ins	INS	ENST00000250113.7	37	c.270_271insG	CCDS45604.1																																																																																				0.441	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1		
MYH3	4621	broad.mit.edu	37	17	10537429	10537429	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr17:10537429C>T	ENST00000583535.1	-	32	4514	c.4427G>A	c.(4426-4428)cGc>cAc	p.R1476H	MYH3_ENST00000226209.7_Missense_Mutation_p.R1476H	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1476					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GCTCAAGGAGCGGGACTCCTT	0.493																																						uc002gmq.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						c.(4426-4428)cGc>cAc		Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.							126.0	121.0	123.0					17																	10537429		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10537429C>T		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.4427G>A	17.37:g.10537429C>T	ENSP00000464317:p.Arg1476His						p.R1476H	NM_002470	NP_002461	P11055	MYH3_HUMAN			31	4515	-			1476					Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.4427G>A	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.670711	0.88348	.	.	ENSG00000109063	ENST00000226209	D	0.83755	-1.76	5.31	5.31	0.75309	Myosin tail (1);	.	.	.	.	D	0.90195	0.6935	H	0.95745	3.715	0.47994	D	0.999568	P	0.43885	0.82	B	0.43478	0.421	D	0.93010	0.6431	9	0.87932	D	0	.	19.3282	0.94273	0.0:1.0:0.0:0.0	.	1476	P11055	MYH3_HUMAN	H	1476	ENSP00000226209:R1476H	ENSP00000226209:R1476H	R	-	2	0	MYH3	10478154	0.996000	0.38824	0.965000	0.40720	0.989000	0.77384	4.980000	0.63812	2.623000	0.88846	0.655000	0.94253	CGC		0.493	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470	
CCDC47	57003	broad.mit.edu	37	17	61830101	61830101	+	Splice_Site	SNP	C	C	T			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr17:61830101C>T	ENST00000225726.5	-	10	1475	c.1093G>A	c.(1093-1095)Gtg>Atg	p.V365M	CCDC47_ENST00000582252.1_Splice_Site_p.V365M|CCDC47_ENST00000403162.3_Splice_Site_p.V365M|RP11-51F16.8_ENST00000580553.1_5'Flank	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	365					calcium ion homeostasis (GO:0055074)|ER overload response (GO:0006983)|osteoblast differentiation (GO:0001649)|post-embryonic development (GO:0009791)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						GAATACTTACCATTAAATGTA	0.373											OREG0031500	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										uc002jbs.4																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						c.e10+1		Homo sapiens coiled-coil domain containing 47 (CCDC47), mRNA.							114.0	109.0	110.0					17																	61830101		2203	4300	6503	SO:0001630	splice_region_variant	57003					integral to membrane	protein binding	g.chr17:61830101C>T	AF226054	CCDS11643.1	17q23.3	2005-12-19				ENSG00000108588			24856	protein-coding gene	gene with protein product						12477932	Standard	NM_020198		Approved	GK001	uc002jbs.4	Q96A33		ENST00000225726.5:c.1093+1G>A	17.37:g.61830101C>T			OREG0031500	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1056	CCDC47_uc010ddx.3_Splice_Site_p.V365_splice|CCDC47_uc002jbt.2_Splice_Site_p.V365_splice	p.V365_splice	NM_020198	NP_064583	Q96A33	CCD47_HUMAN			10	1429	-			365					B2RAS8|D3DU20|Q96D00|Q96JZ7|Q9H3E4|Q9NRG3	Missense_Mutation	SNP	ENST00000225726.5	37	c.1093_splice	CCDS11643.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.202421	0.58234	.	.	ENSG00000108588	ENST00000225726;ENST00000403162	.	.	.	6.07	6.07	0.98685	.	0.052462	0.85682	D	0.000000	T	0.67552	0.2905	L	0.28694	0.88	0.80722	D	1	D;D	0.76494	0.999;0.992	D;P	0.83275	0.996;0.875	T	0.62338	-0.6875	8	.	.	.	-19.0664	19.6475	0.95784	0.0:1.0:0.0:0.0	.	365;365	Q96A33-2;Q96A33	.;CCD47_HUMAN	M	365	.	.	V	-	1	0	CCDC47	59183833	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.562000	0.82300	2.885000	0.99019	0.655000	0.94253	GTG		0.373	CCDC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444016.2	NM_020198	Missense_Mutation
FCGBP	8857	broad.mit.edu	37	19	40376323	40376323	+	Missense_Mutation	SNP	A	A	G	rs377439998		TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr19:40376323A>G	ENST00000221347.6	-	25	11988	c.11981T>C	c.(11980-11982)gTc>gCc	p.V3994A	FCGBP_ENST00000595713.1_5'Flank	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3994	Cys-rich.					extracellular vesicular exosome (GO:0070062)		p.V3994A(3)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTCATAGTAGACACCATTGTG	0.562																																						uc002omp.4																			3	Substitution - Missense(3)	p.V3994A(6)	endometrium(2)|upper_aerodigestive_tract(1)	NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(11980-11982)gTc>gCc		Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.							65.0	59.0	61.0					19																	40376323		2199	4300	6499	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40376323A>G	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.11981T>C	19.37:g.40376323A>G	ENSP00000221347:p.Val3994Ala						p.V3994A	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		24	11989	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		3994			Cys-rich.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.11981T>C	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	a	2.731	-0.264330	0.05754	.	.	ENSG00000090920	ENST00000221347	T	0.04360	3.64	3.4	-5.71	0.02413	von Willebrand factor, type C (1);	.	.	.	.	T	0.02418	0.0074	N	0.20483	0.58	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.49322	-0.8952	9	0.09590	T	0.72	.	7.1668	0.25695	0.2551:0.2893:0.4556:0.0	.	3994	Q9Y6R7	FCGBP_HUMAN	A	3994	ENSP00000221347:V3994A	ENSP00000221347:V3994A	V	-	2	0	FCGBP	45068163	0.000000	0.05858	0.034000	0.17996	0.099000	0.18886	1.012000	0.29924	-0.821000	0.04312	-0.850000	0.03035	GTC		0.562	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890	
SIGLEC8	27181	broad.mit.edu	37	19	51960862	51960862	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr19:51960862C>T	ENST00000321424.3	-	2	652	c.586G>A	c.(586-588)Gtg>Atg	p.V196M	SIGLEC8_ENST00000430817.1_Intron|SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000340550.5_Intron	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	196	Ig-like C2-type 1.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GGGGAGGACACGGAGGCCCCA	0.657																																						uc002pwt.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50						c.(586-588)Gtg>Atg		Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.							58.0	61.0	60.0					19																	51960862		2203	4300	6503	SO:0001583	missense	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51960862C>T	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.586G>A	19.37:g.51960862C>T	ENSP00000321077:p.Val196Met					SIGLEC8_uc010yda.2_Intron|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Intron	p.V196M	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	1	653	-		all_neural(266;0.0199)	196			Ig-like C2-type 1.		Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	c.586G>A	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	7.505	0.653527	0.14580	.	.	ENSG00000105366	ENST00000321424	T	0.20598	2.06	2.69	-5.38	0.02673	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.664823	0.12110	N	0.498597	T	0.16854	0.0405	M	0.72894	2.215	0.09310	N	1	B	0.21821	0.061	B	0.29598	0.104	T	0.39231	-0.9624	10	0.37606	T	0.19	.	0.0938	0.00042	0.3008:0.2541:0.1852:0.26	.	196	Q9NYZ4	SIGL8_HUMAN	M	196	ENSP00000321077:V196M	ENSP00000321077:V196M	V	-	1	0	SIGLEC8	56652674	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.367000	0.02583	-1.348000	0.02205	0.502000	0.49764	GTG		0.657	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442	
NLRP8	126205	broad.mit.edu	37	19	56459235	56459235	+	5'UTR	SNP	G	G	A	rs376178264		TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr19:56459235G>A	ENST00000291971.3	+	0	38				NLRP8_ENST00000590542.1_5'Flank	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8						neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TGTCTTTATCGTGGACACTGA	0.448																																						uc002qmh.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35								Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.		G		0,4406		0,0,2203	184.0	156.0	165.0			-3.5	0.0	19		165	1,8599	1.2+/-3.3	0,1,4299	no	utr-5	NLRP8	NM_176811.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077			56459235	1,13005	2203	4300	6503	SO:0001623	5_prime_UTR_variant	126205					cytoplasm	ATP binding	g.chr19:56459235G>A	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.-34G>A	19.37:g.56459235G>A						NLRP8_uc010etg.3_5'UTR		NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	0		+		Colorectal(82;0.000147)|Ovarian(87;0.17)						Q7RTR4	Translation_Start_Site	SNP	ENST00000291971.3	37		CCDS12937.1																																																																																				0.448	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811	
SPTBN1	6711	broad.mit.edu	37	2	54756736	54756736	+	Intron	SNP	T	T	C			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr2:54756736T>C	ENST00000356805.4	+	2	429				AC092839.3_ENST00000433475.1_RNA	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1						actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			ACCACTGAGTTTGCCATGAAG	0.483																																						uc010yot.1																			0											c.(253-255)tTt>tCt		Homo sapiens ribosomal protein L23a pseudogene 32 (RPL23AP32), non-coding RNA.																																				SO:0001627	intron_variant	56969							g.chr2:54756736T>C		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.148+3033T>C	2.37:g.54756736T>C						SPTBN1_uc002rxu.3_Intron|SPTBN1_uc002rxv.1_Intron	p.F85S							0	378	+								B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.254T>C	CCDS33198.1																																																																																				0.483	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3		
TANC1	85461	broad.mit.edu	37	2	160042398	160042398	+	Silent	SNP	G	G	A	rs371024246		TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr2:160042398G>A	ENST00000263635.6	+	15	2844	c.2607G>A	c.(2605-2607)gcG>gcA	p.A869A	TANC1_ENST00000454300.1_Silent_p.A763A	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	869					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TCCTGAAGGCGCACATTTTCA	0.517																																						uc002uag.3																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(2605-2607)gcG>gcA		Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.		G	,	0,4202		0,0,2101	69.0	70.0	70.0		2583,2607	-12.2	0.1	2		70	1,8399		0,1,4199	no	coding-synonymous,coding-synonymous	TANC1	NM_001145909.1,NM_033394.2	,	0,1,6300	AA,AG,GG		0.0119,0.0,0.0079	,	861/1391,869/1862	160042398	1,12601	2101	4200	6301	SO:0001819	synonymous_variant	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160042398G>A	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.2607G>A	2.37:g.160042398G>A						TANC1_uc010zcm.2_Silent_p.A861A|TANC1_uc010fom.1_Silent_p.A675A	p.A869A	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN			14	2881	+			869					C9JD88|Q49AI8	Silent	SNP	ENST00000263635.6	37	c.2607G>A	CCDS42766.1																																																																																				0.517	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1		
SCN9A	6335	broad.mit.edu	37	2	167141062	167141062	+	Silent	SNP	G	G	A			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr2:167141062G>A	ENST00000409435.1	-	11	1874	c.1875C>T	c.(1873-1875)aaC>aaT	p.N625N	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Silent_p.N626N|SCN9A_ENST00000409672.1_Silent_p.N625N|SCN9A_ENST00000375387.4_Silent_p.N626N			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	625					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.N625N(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGACCACACCGTTGCAGTCCA	0.562																																						uc010fpl.3																			1	Substitution - coding silent(1)	p.N625N(2)	NS(1)	NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(1873-1875)aaC>aaT		Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	Lamotrigine(DB00555)|Lidocaine(DB00281)						85.0	87.0	86.0					2																	167141062		2181	4294	6475	SO:0001819	synonymous_variant	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167141062G>A	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1875C>T	2.37:g.167141062G>A						BC051759_uc002udp.3_Intron|SCN9A_uc002udr.1_Silent_p.N496N|SCN9A_uc002uds.1_Silent_p.N496N|SCN9A_uc002udt.1_Silent_p.N496N	p.N625N	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			11	2216	-			625					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	ENST00000409435.1	37	c.1875C>T	CCDS46441.1																																																																																				0.562	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977	
TTN	7273	broad.mit.edu	37	2	179438641	179438641	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr2:179438641G>C	ENST00000591111.1	-	276	67519	c.67295C>G	c.(67294-67296)aCa>aGa	p.T22432R	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T24073R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T15008R|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T15133R|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T15200R|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T21505R|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22432	Ig-like 116.				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)			TAACTTTGCTGTGCCTTCCAG	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						c.(64513-64515)aCa>aGa		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							76.0	70.0	72.0					2																	179438641		1855	4096	5951	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179438641G>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.67295C>G	2.37:g.179438641G>C	ENSP00000465570:p.Thr22432Arg					MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.T15200R|TTN_uc021vta.1_Missense_Mutation_p.T15133R|TTN_uc021vtb.1_Missense_Mutation_p.T15008R	p.T21505R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		274	64739	-			22432			Fibronectin type-III 56.		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.64514C>G		.	.	.	.	.	.	.	.	.	.	G	10.97	1.501202	0.26861	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.99	5.1	0.69264	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41696	0.1170	L	0.33189	0.99	0.54753	D	0.999988	P;P;P;P	0.51933	0.949;0.949;0.949;0.949	P;P;P;P	0.48598	0.583;0.583;0.583;0.583	T	0.34675	-0.9819	9	0.87932	D	0	.	14.6419	0.68732	0.0694:0.0:0.9306:0.0	.	15008;15133;15200;22432	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	21505;15008;15200;15133;15006	ENSP00000343764:T21505R;ENSP00000434586:T15008R;ENSP00000340554:T15200R;ENSP00000352154:T15133R	ENSP00000340554:T15200R	T	-	2	0	TTN	179146887	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.484000	0.66844	2.843000	0.97960	0.655000	0.94253	ACA		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179615121	179615121	+	Intron	SNP	A	A	G			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr2:179615121A>G	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000360870.5_Silent_p.T4002T|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_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)			CAGATGAAAGAGTTAATATTG	0.333																																						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.							138.0	134.0	135.0					2																	179615121		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179615121A>G	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.10360+2729T>C	2.37:g.179615121A>G						TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Intron|TTN_uc021vtc.1_5'Flank|TTN_uc002unb.2_Silent_p.T4002T		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	Silent	SNP	ENST00000591111.1	37																																																																																						0.333	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179647637	179647637	+	Missense_Mutation	SNP	C	C	T	rs371757623		TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr2:179647637C>T	ENST00000591111.1	-	18	3220	c.2996G>A	c.(2995-2997)cGt>cAt	p.R999H	TTN_ENST00000589042.1_Missense_Mutation_p.R999H|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.R999H|TTN_ENST00000460472.2_Missense_Mutation_p.R953H|TTN_ENST00000359218.5_Missense_Mutation_p.R953H|TTN_ENST00000342175.6_Missense_Mutation_p.R953H|TTN_ENST00000342992.6_Missense_Mutation_p.R999H			Q8WZ42	TITIN_HUMAN	titin	32552	Ig-like 3.				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)			AATCATAAGACGAGCAATTCC	0.493																																						uc021vsy.1																			0		p.A998D(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.(2995-2997)cGt>cAt		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	102.0	99.0	100.0		2858,2996,2996,2858,2858	6.2	1.0	2		100	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	29,29,29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	953/26927,999/33424,999/5605,953/27052,953/27119	179647637	1,13005	2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179647637C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.2996G>A	2.37:g.179647637C>T	ENSP00000465570:p.Arg999His					TTN_uc021vsz.1_Missense_Mutation_p.R953H|TTN_uc021vta.1_Missense_Mutation_p.R953H|TTN_uc021vtb.1_Missense_Mutation_p.R953H|TTN_uc002unb.2_Missense_Mutation_p.R999H	p.R999H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		17	3221	-			999			Ig-like 3.		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.2996G>A		.	.	.	.	.	.	.	.	.	.	C	13.95	2.389979	0.42410	0.0	1.16E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29	6.17	6.17	0.99709	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77329	0.4114	L	0.35644	1.08	0.34124	D	0.664483	D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0	D;D;D;D;D	0.74023	0.947;0.947;0.947;0.971;0.982	T	0.80863	-0.1192	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	953;953;953;999;999	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	H	999;953;953;953;953;999	ENSP00000343764:R999H;ENSP00000434586:R953H;ENSP00000340554:R953H;ENSP00000352154:R953H;ENSP00000354117:R999H	ENSP00000340554:R953H	R	-	2	0	TTN	179355882	1.000000	0.71417	0.972000	0.41901	0.368000	0.29767	4.876000	0.63079	2.941000	0.99782	0.655000	0.94253	CGT		0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
COL6A3	1293	broad.mit.edu	37	2	238245018	238245018	+	Missense_Mutation	SNP	C	C	T	rs201917052		TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr2:238245018C>T	ENST00000295550.4	-	40	9177	c.8725G>A	c.(8725-8727)Gct>Act	p.A2909T	COL6A3_ENST00000346358.4_Missense_Mutation_p.A2709T|COL6A3_ENST00000409809.1_Missense_Mutation_p.A2703T|COL6A3_ENST00000353578.4_Missense_Mutation_p.A2703T|COL6A3_ENST00000472056.1_Missense_Mutation_p.A2302T|COL6A3_ENST00000347401.3_Missense_Mutation_p.A2708T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2909	Ala-rich.|Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGCTTTGCAGCGGCTGGCTTC	0.582													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15686	0.0		0.0	False		,,,				2504	0.0					uc002vwl.2																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(8725-8727)Gct>Act		Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.							94.0	108.0	104.0					2																	238245018		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238245018C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.8725G>A	2.37:g.238245018C>T	ENSP00000295550:p.Ala2909Thr					COL6A3_uc002vwo.2_Missense_Mutation_p.A2703T|COL6A3_uc010znj.1_Missense_Mutation_p.A2302T|COL6A3_uc002vwj.2_Missense_Mutation_p.A290T	p.A2909T	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	39	9010	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2909			Ala-rich.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.8725G>A	CCDS33412.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	9.307	1.054507	0.19907	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.88664	-2.41;-2.38;-2.37;-2.37;-2.37;-2.36	4.74	-3.8	0.04307	.	0.967279	0.08473	N	0.940644	T	0.81791	0.4897	L	0.53249	1.67	0.09310	N	1	B;B;B	0.32731	0.063;0.104;0.382	B;B;B	0.25291	0.016;0.036;0.059	T	0.67960	-0.5535	10	0.40728	T	0.16	.	7.0757	0.25203	0.1148:0.2175:0.5842:0.0835	.	2302;2703;2909	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	T	2909;2708;2703;2302;2703;2709	ENSP00000295550:A2909T;ENSP00000315609:A2708T;ENSP00000315873:A2703T;ENSP00000418285:A2302T;ENSP00000386844:A2703T;ENSP00000295546:A2709T	ENSP00000295550:A2909T	A	-	1	0	COL6A3	237909757	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.622000	0.05553	-0.509000	0.06532	-1.097000	0.02148	GCT		0.582	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
KRTAP10-1	386677	broad.mit.edu	37	21	45959752	45959752	+	Silent	SNP	G	G	A			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr21:45959752G>A	ENST00000400375.1	-	1	326	c.282C>T	c.(280-282)ccC>ccT	p.P94P	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	94	24 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						cctgctggcagggggaggagg	0.662																																						uc002zfh.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						c.(280-282)ccC>ccT		Homo sapiens keratin associated protein 10-1 (KRTAP10-1), mRNA.							41.0	47.0	45.0					21																	45959752		2190	4281	6471	SO:0001819	synonymous_variant	386677					keratin filament		g.chr21:45959752G>A	AJ566380	CCDS42954.1	21q22.3	2007-10-05			ENSG00000215455	ENSG00000215455		"""Keratin associated proteins"""	22966	protein-coding gene	gene with protein product				KRTAP18-1			Standard	NM_198691		Approved	KAP10.1, KAP18.1	uc002zfh.1	P60331	OTTHUMG00000057627	ENST00000400375.1:c.282C>T	21.37:g.45959752G>A						TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	p.P94P	NM_198691	NP_941964	P60331	KR101_HUMAN			0	327	-			94			24 X 5 AA repeats of C-C-X(3).		Q0VAR0|Q0VAR1	Silent	SNP	ENST00000400375.1	37	c.282C>T	CCDS42954.1																																																																																				0.662	KRTAP10-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128030.1		
DAG1	1605	broad.mit.edu	37	3	49570453	49570453	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr3:49570453C>T	ENST00000539901.1	+	3	3067	c.2509C>T	c.(2509-2511)Ccc>Tcc	p.P837S	DAG1_ENST00000545947.1_Missense_Mutation_p.P837S|DAG1_ENST00000308775.2_Missense_Mutation_p.P837S|DAG1_ENST00000541308.1_Missense_Mutation_p.P837S|DAG1_ENST00000538711.1_Missense_Mutation_p.P837S|DAG1_ENST00000515359.2_Missense_Mutation_p.P837S	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	837	Pro-rich.|Required for interaction with CAV3.				basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CCAGAGTGTGCCCGAGACCAC	0.637																																						uc021wxz.1																			0				NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23						c.(2509-2511)Ccc>Tcc		Homo sapiens dystroglycan 1 (dystrophin-associated glycoprotein 1) (DAG1), transcript variant 12, mRNA.							80.0	79.0	79.0					3																	49570453		2203	4300	6503	SO:0001583	missense	1605				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding	g.chr3:49570453C>T	L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"""alpha-dystroglycan"", ""dystrophin-associated glycoprotein-1"", ""beta-dystroglycan"""	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.2509C>T	3.37:g.49570453C>T	ENSP00000439334:p.Pro837Ser					DAG1_uc021wya.1_Missense_Mutation_p.P837S|DAG1_uc021wyb.1_Missense_Mutation_p.P837S|DAG1_uc021wyc.1_Missense_Mutation_p.P837S|DAG1_uc021wyd.1_Missense_Mutation_p.P837S|DAG1_uc021wye.1_Missense_Mutation_p.P837S|DAG1_uc021wyf.1_Missense_Mutation_p.P837S|DAG1_uc021wyg.1_Missense_Mutation_p.P837S|DAG1_uc021wyh.1_Missense_Mutation_p.P837S|DAG1_uc021wyi.1_Missense_Mutation_p.P837S|DAG1_uc021wyj.1_Missense_Mutation_p.P837S|DAG1_uc021wyk.1_Missense_Mutation_p.P837S|DAG1_uc003cxc.4_Missense_Mutation_p.P837S	p.P837S	NM_001177643	NP_001171114	Q14118	DAG1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	2	2978	+			837			Pro-rich.|Required for interaction with CAV3.		A8K6M7|Q969J9	Missense_Mutation	SNP	ENST00000539901.1	37	c.2509C>T	CCDS2799.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132567	0.56828	.	.	ENSG00000173402	ENST00000515359;ENST00000308775;ENST00000545947;ENST00000541308;ENST00000539901;ENST00000538711	T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.65491	0.2696	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63603	-0.6600	9	.	.	.	-20.0526	18.6326	0.91366	0.0:1.0:0.0:0.0	.	837	Q14118	DAG1_HUMAN	S	837	ENSP00000440705:P837S;ENSP00000312435:P837S;ENSP00000442600:P837S;ENSP00000440590:P837S;ENSP00000439334:P837S;ENSP00000438421:P837S	.	P	+	1	0	DAG1	49545457	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.897000	0.63231	2.694000	0.91930	0.650000	0.86243	CCC		0.637	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346326.1		
ANKRD17	26057	broad.mit.edu	37	4	73962983	73962983	+	Silent	SNP	T	T	G			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr4:73962983T>G	ENST00000358602.4	-	27	5144	c.5028A>C	c.(5026-5028)tcA>tcC	p.S1676S	ANKRD17_ENST00000509867.2_Silent_p.S1563S|ANKRD17_ENST00000330838.6_Silent_p.S1425S	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1676	Ser-rich.				blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGATAGTTTCTGACAATCTTT	0.333																																						uc003hgp.3																			0		p.L1675L(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(5026-5028)tcA>tcC		Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.							81.0	80.0	81.0					4																	73962983		2203	4300	6503	SO:0001819	synonymous_variant	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73962983T>G	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.5028A>C	4.37:g.73962983T>G						ANKRD17_uc003hgo.3_Silent_p.S1563S|ANKRD17_uc003hgq.3_Silent_p.S1425S|ANKRD17_uc003hgr.3_Silent_p.S1675S	p.S1676S	NM_032217	NP_115593	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		26	5145	-	Breast(15;0.000295)		1676			Ser-rich.		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Silent	SNP	ENST00000358602.4	37	c.5028A>C	CCDS34004.1																																																																																				0.333	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217	
FGA	2243	broad.mit.edu	37	4	155506815	155506815	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr4:155506815T>C	ENST00000302053.3	-	5	1844	c.1766A>G	c.(1765-1767)tAc>tGc	p.Y589C	FGA_ENST00000403106.3_Missense_Mutation_p.Y589C	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	589					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TCCTCTGTTGTAACTCGTGCT	0.443																																					NSCLC(143;340 1922 20892 22370 48145)	uc003iod.1																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(1765-1767)tAc>tGc		Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						133.0	128.0	130.0					4																	155506815		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155506815T>C		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1766A>G	4.37:g.155506815T>C	ENSP00000306361:p.Tyr589Cys					FGA_uc003ioe.1_Missense_Mutation_p.Y589C|FGA_uc003iof.1_3'UTR	p.Y589C	NM_000508	NP_000499	P02671	FIBA_HUMAN			4	1824	-	all_hematologic(180;0.215)	Renal(120;0.0458)	589					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.1766A>G	CCDS3787.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.15|16.15	3.042211|3.042211	0.55003|0.55003	.|.	.|.	ENSG00000171560|ENSG00000171560	ENST00000457487|ENST00000302053;ENST00000403106	.|T;T	.|0.56611	.|0.45;2.75	5.41|5.41	-6.02|-6.02	0.02192|0.02192	.|.	.|15.340500	.|0.00166	.|N	.|0.000000	T|T	0.49864|0.49864	0.1582|0.1582	L|L	0.46157|0.46157	1.445|1.445	0.09310|0.09310	N|N	1|1	.|D;P	.|0.54964	.|0.969;0.947	.|P;B	.|0.49502	.|0.613;0.408	T|T	0.56848|0.56848	-0.7911|-0.7911	6|10	0.20046|0.45353	T|T	0.44|0.12	.|.	6.6124|6.6124	0.22759|0.22759	0.235:0.0:0.1413:0.6237|0.235:0.0:0.1413:0.6237	.|.	.|589;589	.|P02671-2;P02671	.|.;FIBA_HUMAN	A|C	231|589	.|ENSP00000306361:Y589C;ENSP00000385981:Y589C	ENSP00000407891:T231A|ENSP00000306361:Y589C	T|Y	-|-	1|2	0|0	FGA|FGA	155726265|155726265	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.260000|-0.260000	0.08708|0.08708	-1.077000|-1.077000	0.03121|0.03121	0.533000|0.533000	0.62120|0.62120	ACA|TAC		0.443	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508	
CDH18	1016	broad.mit.edu	37	5	19520824	19520825	+	Missense_Mutation	DNP	GG	GG	AC			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr5:19520824_19520825GG>AC	ENST00000507958.1	-	12	2443_2444	c.1453_1454CC>GT	c.(1453-1455)CCa>GTa	p.P485V	CDH18_ENST00000506372.1_Missense_Mutation_p.P485V|CDH18_ENST00000274170.4_Missense_Mutation_p.P485V|CDH18_ENST00000502796.1_Missense_Mutation_p.P485V|CDH18_ENST00000382275.1_Missense_Mutation_p.P485V|CDH18_ENST00000511273.1_Missense_Mutation_p.P485V			Q13634	CAD18_HUMAN	cadherin 18, type 2	485	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AAGTTCGGGTGGATTGTCATTG	0.381																																						uc003jgd.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(1453-1455)cca>GTa		Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.																																				SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19520824_19520825GG>AC	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1453_1454delinsAC	5.37:g.19520824_19520825delinsAC	ENSP00000425093:p.Pro485Val					CDH18_uc011cnm.2_Missense_Mutation_p.P485V|CDH18_uc003jgc.3_Missense_Mutation_p.P485V|CDH18_uc021xwu.1_Missense_Mutation_p.P485V	p.P485V	NM_004934	NP_004925	Q13634	CAD18_HUMAN			9	1987_1988	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		485			Cadherin 4.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	DNP	ENST00000507958.1	37	c.1453_1454CC>GT	CCDS3889.1																																																																																				0.381	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934	
PCDHB16	57717	broad.mit.edu	37	5	140563145	140563145	+	Silent	SNP	G	G	T			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr5:140563145G>T	ENST00000361016.2	+	1	2166	c.1011G>T	c.(1009-1011)gtG>gtT	p.V337V		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	337	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTGCAGGTGGTGGACGTGA	0.502																																						uc003liv.3																			0				breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69						c.(1009-1011)gtG>gtT		Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.							93.0	100.0	97.0					5																	140563145		2203	4300	6503	SO:0001819	synonymous_variant	57717				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140563145G>T	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1011G>T	5.37:g.140563145G>T							p.V337V	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	2166	+			337			Cadherin 3.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	c.1011G>T	CCDS4251.1																																																																																				0.502	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957	
PCDHGA2	56113	broad.mit.edu	37	5	140720392	140720392	+	Silent	SNP	G	G	A			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr5:140720392G>A	ENST00000394576.2	+	1	1854	c.1854G>A	c.(1852-1854)tcG>tcA	p.S618S	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	618	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACTCTTCTCGGTGGGTCTGC	0.677																																						uc003ljk.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1852-1854)tcG>tcA		Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.							38.0	46.0	43.0					5																	140720392		2195	4294	6489	SO:0001819	synonymous_variant	56113				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140720392G>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1854G>A	5.37:g.140720392G>A						PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Silent_p.S618S	p.S618S	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2039	+			620			Cadherin 6.		Q52LL6|Q9Y5D5	Silent	SNP	ENST00000394576.2	37	c.1854G>A	CCDS47289.1																																																																																				0.677	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915	
TUBB	203068	broad.mit.edu	37	6	30690337	30690337	+	Silent	SNP	A	A	G			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr6:30690337A>G	ENST00000327892.8	+	2	387	c.81A>G	c.(79-81)gaA>gaG	p.E27E	TUBB_ENST00000435534.1_Silent_p.E27E|XXbac-BPG252P9.9_ENST00000607476.1_RNA|TUBB_ENST00000396384.1_5'UTR|TUBB_ENST00000396389.1_Silent_p.E9E|TUBB_ENST00000330914.3_5'UTR	NM_178014.2	NP_821133.1	P07437	TBB5_HUMAN	tubulin, beta class I	27					cell division (GO:0051301)|cellular component movement (GO:0006928)|cellular process (GO:0009987)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cell body (GO:0044297)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Podofilox(DB01179)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	TCAGTGATGAACATGGCATCG	0.562																																						uc003nrl.3																			0				breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16						c.(79-81)gaA>gaG		Homo sapiens tubulin, beta class I (TUBB), mRNA.	Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)						81.0	56.0	65.0					6																	30690337		1511	2709	4220	SO:0001819	synonymous_variant	203068				cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding	g.chr6:30690337A>G	AB062393	CCDS4687.1	6p21.33	2011-10-10	2011-10-10		ENSG00000196230	ENSG00000196230		"""Tubulins"""	20778	protein-coding gene	gene with protein product	"""class I beta-tubulin"", ""beta1-tubulin"""	191130	"""tubulin, beta polypeptide"", ""tubulin, beta"""			11504633, 8270253	Standard	NM_001293212		Approved	OK/SW-cl.56, MGC16435, M40, Tubb5	uc003nrl.3	P07437	OTTHUMG00000031059	ENST00000327892.8:c.81A>G	6.37:g.30690337A>G						TUBB_uc011dmq.2_5'UTR	p.E27E	NM_178014	NP_821133	P07437	TBB5_HUMAN			1	208	+			27					P05218|Q8WUC1|Q9CY33	Silent	SNP	ENST00000327892.8	37	c.81A>G	CCDS4687.1																																																																																				0.562	TUBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076074.2	NM_178014	
DPCR1	135656	broad.mit.edu	37	6	30919762	30919762	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr6:30919762C>T	ENST00000462446.1	+	2	3549	c.3521C>T	c.(3520-3522)aCg>aTg	p.T1174M	DPCR1_ENST00000304311.2_Missense_Mutation_p.T16M|HCG21_ENST00000419481.1_RNA			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	314						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						GAAAAGACCACGTCAACCACA	0.468																																						uc003nsg.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						c.(3520-3522)aCg>aTg		Homo sapiens diffuse panbronchiolitis critical region 1 (DPCR1), mRNA.							158.0	159.0	159.0					6																	30919762		2203	4300	6503	SO:0001583	missense	135656					integral to membrane		g.chr6:30919762C>T	AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.3521C>T	6.37:g.30919762C>T	ENSP00000417182:p.Thr1174Met						p.T1174M	NM_080870	NP_543146	Q3MIW9	DPCR1_HUMAN			1	3521	+			305					C9IZC0|Q658M7|Q8WYN2	Missense_Mutation	SNP	ENST00000462446.1	37	c.3521C>T	CCDS4692.2	.	.	.	.	.	.	.	.	.	.	C	9.159	1.018279	0.19355	.	.	ENSG00000168631	ENST00000462446;ENST00000304311	T;T	0.36157	1.27;1.43	3.77	0.844	0.18943	.	.	.	.	.	T	0.07954	0.0199	L	0.35854	1.095	0.09310	N	1	P	0.42584	0.784	B	0.29524	0.103	T	0.13522	-1.0506	9	0.49607	T	0.09	.	5.2116	0.15320	0.0:0.5586:0.1587:0.2827	.	1174	E9PEI6	.	M	1174;16	ENSP00000417182:T1174M;ENSP00000305948:T16M	ENSP00000305948:T16M	T	+	2	0	DPCR1	31027741	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.139000	0.10358	0.030000	0.15379	-1.688000	0.00730	ACG		0.468	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076173.3	NM_080870	
DDX39B	7919	broad.mit.edu	37	6	31504445	31504445	+	Missense_Mutation	SNP	C	C	A	rs75750725		TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr6:31504445C>A	ENST00000396172.1	-	5	1078	c.448G>T	c.(448-450)Ggt>Tgt	p.G150C	DDX39B_ENST00000415382.2_Missense_Mutation_p.G72C|DDX39B_ENST00000449074.2_3'UTR|SNORD117_ENST00000364915.1_RNA|DDX39B_ENST00000458640.1_Missense_Mutation_p.G150C|DDX39B_ENST00000376177.2_Missense_Mutation_p.G150C|DDX39B_ENST00000453105.2_Missense_Mutation_p.G103C|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000417556.2_Missense_Mutation_p.G165C	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	150	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GACAGACCACCAAAAAAAACA	0.507																																						uc003ntt.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(448-450)Ggt>Tgt		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B (DDX39B), transcript variant 1, mRNA.							56.0	61.0	59.0					6																	31504445		1508	2707	4215	SO:0001583	missense	7919				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding	g.chr6:31504445C>A	Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"""DEAD-boxes"""	13917	protein-coding gene	gene with protein product	"""U2AF65-associated protein 56"""	142560	"""HLA-B associated transcript 1"""	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.448G>T	6.37:g.31504445C>A	ENSP00000379475:p.Gly150Cys					DDX39B_uc003ntr.3_5'Flank|DDX39B_uc003ntu.3_Missense_Mutation_p.G150C|DDX39B_uc011dnn.2_Missense_Mutation_p.G72C|DDX39B_uc003ntv.3_Missense_Mutation_p.G150C|DDX39B_uc003ntw.2_Missense_Mutation_p.G150C|DDX39B_uc003ntx.2_Missense_Mutation_p.G150C|DDX39B_uc011dno.1_Missense_Mutation_p.G103C|DDX39B_uc011dnp.1_Missense_Mutation_p.G72C|SNORD117_uc003nty.1_5'Flank|DDX39B_uc011dnq.1_Non-coding_Transcript	p.G150C	NM_004640	NP_542165	Q13838	DX39B_HUMAN			4	1106	-			150			Helicase ATP-binding.		B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	Missense_Mutation	SNP	ENST00000396172.1	37	c.448G>T	CCDS4697.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.674713	0.88445	.	.	ENSG00000198563	ENST00000376177;ENST00000458640;ENST00000396172;ENST00000417556;ENST00000415382;ENST00000431908;ENST00000427214;ENST00000453105;ENST00000428098;ENST00000419338;ENST00000456662;ENST00000428450;ENST00000449757	T;T;T;T;T;T;T;T;T;T;T;T;T	0.61392	0.11;2.91;2.91;2.91;2.91;2.91;0.11;1.87;0.11;0.11;1.87;0.11;0.11	5.33	5.33	0.75918	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.062587	0.64402	D	0.000009	D	0.84556	0.5498	H	0.98996	4.395	0.80722	D	1	D;D;D;D;P;D	0.89917	1.0;1.0;1.0;0.998;0.666;1.0	D;D;D;D;P;D	0.97110	1.0;0.968;1.0;0.971;0.609;0.999	D	0.90487	0.4464	10	0.87932	D	0	-12.8414	16.8687	0.86035	0.0:1.0:0.0:0.0	.	72;103;72;170;150;150	B4DIZ8;B4DIJ6;B4DP52;Q59G92;Q13838;Q5STU3	.;.;.;.;DX39B_HUMAN;.	C	150;150;150;165;72;72;150;103;150;150;150;178;173	ENSP00000365347:G150C;ENSP00000416269:G150C;ENSP00000379475:G150C;ENSP00000412582:G165C;ENSP00000392669:G72C;ENSP00000408000:G72C;ENSP00000399371:G150C;ENSP00000400328:G103C;ENSP00000392672:G150C;ENSP00000410313:G150C;ENSP00000416350:G150C;ENSP00000405707:G178C;ENSP00000409426:G173C	ENSP00000365347:G150C	G	-	1	0	DDX39B	31612424	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.384000	0.79751	2.640000	0.89533	0.650000	0.86243	GGT		0.507	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259083.1	NM_004640	
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr7:55221822C>T	ENST00000275493.2	+	7	1043	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			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.A289V(20)|p.A289D(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)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.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"""		23	Substitution - Missense(23)	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)	central_nervous_system(23)	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.(865-867)gCc>gTc		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)						178.0	142.0	154.0					7																	55221822		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.chr7:55221822C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.866C>T	7.37:g.55221822C>T	ENSP00000275493:p.Ala289Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.A289V	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)		6	1112	+	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)		289					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.866C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	36	5.765054	0.96906	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.83695	0.5310	M	0.89785	3.06	0.80722	D	1	D;D;D;D;D	0.89917	0.996;0.998;1.0;1.0;1.0	P;D;D;D;D	0.77004	0.877;0.989;0.98;0.989;0.941	D	0.86120	0.1568	10	0.87932	D	0	.	18.9232	0.92534	0.0:1.0:0.0:0.0	.	244;289;289;289;289	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	V	244;289;159;289;289;289;289;236;83	ENSP00000415559:A244V;ENSP00000342376:A289V;ENSP00000345973:A289V;ENSP00000413843:A289V;ENSP00000275493:A289V;ENSP00000410031:A289V;ENSP00000395243:A236V	ENSP00000275493:A289V	A	+	2	0	EGFR	55189316	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.794000	0.85869	2.816000	0.96949	0.563000	0.77884	GCC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
RSBN1L	222194	broad.mit.edu	37	7	77378833	77378833	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr7:77378833C>T	ENST00000334955.8	+	3	823	c.796C>T	c.(796-798)Cgg>Tgg	p.R266W	RSBN1L_ENST00000445288.1_5'UTR	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	266	Lys-rich.					nucleus (GO:0005634)				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAATGAAAAACGGAAGCGTCC	0.353																																						uc010ldt.1																			0		p.R266L(1)		central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(796-798)Cgg>Tgg		Homo sapiens round spermatid basic protein 1-like (RSBN1L), mRNA.							70.0	64.0	66.0					7																	77378833		1836	4076	5912	SO:0001583	missense	222194					nucleus		g.chr7:77378833C>T	AK124517	CCDS43607.1	7q21.11	2004-08-11			ENSG00000187257	ENSG00000187257			24765	protein-coding gene	gene with protein product						12477932	Standard	NM_198467		Approved	FLJ42526, FLJ45813, MGC71764	uc010ldt.1	Q6PCB5	OTTHUMG00000155517	ENST00000334955.8:c.796C>T	7.37:g.77378833C>T	ENSP00000334040:p.Arg266Trp						p.R266W	NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN			2	840	+			266			Lys-rich.		C9K0P1|Q6ZS58|Q6ZVI9|Q86X48	Missense_Mutation	SNP	ENST00000334955.8	37	c.796C>T	CCDS43607.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274492	0.59649	.	.	ENSG00000187257	ENST00000334955	T	0.08370	3.1	5.95	3.97	0.46021	.	0.060349	0.64402	D	0.000004	T	0.21307	0.0513	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.00857	-1.1538	10	0.66056	D	0.02	-9.993	13.8664	0.63592	0.4072:0.5928:0.0:0.0	.	266	Q6PCB5	RSBNL_HUMAN	W	266	ENSP00000334040:R266W	ENSP00000334040:R266W	R	+	1	2	RSBN1L	77216769	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	0.513000	0.22770	1.514000	0.48869	0.655000	0.94253	CGG		0.353	RSBN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340455.3	NM_198467	
SEMA3E	9723	broad.mit.edu	37	7	82997239	82997239	+	Missense_Mutation	SNP	G	G	A	rs375536813		TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr7:82997239G>A	ENST00000307792.3	-	17	2458	c.1991C>T	c.(1990-1992)aCg>aTg	p.T664M	SEMA3E_ENST00000427262.1_Missense_Mutation_p.T604M	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	664	Ig-like C2-type.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TTTACGGACCGTATGGACAAA	0.458																																						uc003uhy.2																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51						c.(1990-1992)aCg>aTg		Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.		G	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	132.0	117.0	122.0		1811,1991	5.8	0.0	7		122	0,8600		0,0,4300	no	missense,missense	SEMA3E	NM_001178129.1,NM_012431.2	81,81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	604/716,664/776	82997239	1,13005	2203	4300	6503	SO:0001583	missense	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:82997239G>A	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.1991C>T	7.37:g.82997239G>A	ENSP00000303212:p.Thr664Met					SEMA3E_uc022agy.1_Missense_Mutation_p.T604M	p.T664M	NM_012431	NP_001171600	O15041	SEM3E_HUMAN			16	2612	-		Medulloblastoma(109;0.109)	664			Ig-like C2-type.		B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	c.1991C>T	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.386536	0.61956	2.27E-4	0.0	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	T;T	0.01665	4.7;4.7	5.77	5.77	0.91146	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.04815	0.0130	M	0.82132	2.575	0.58432	D	0.999995	P	0.51449	0.945	B	0.43658	0.426	T	0.09574	-1.0668	10	0.56958	D	0.05	.	13.212	0.59830	0.0726:0.0:0.9274:0.0	.	664	O15041	SEM3E_HUMAN	M	664;604;664	ENSP00000303212:T664M;ENSP00000405052:T604M	ENSP00000303212:T664M	T	-	2	0	SEMA3E	82835175	1.000000	0.71417	0.049000	0.19019	0.966000	0.64601	4.360000	0.59455	2.727000	0.93392	0.585000	0.79938	ACG		0.458	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431	
MYOM2	9172	broad.mit.edu	37	8	2040299	2040299	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr8:2040299G>A	ENST00000262113.4	+	16	2095	c.1954G>A	c.(1954-1956)Gga>Aga	p.G652R	MYOM2_ENST00000523438.1_Missense_Mutation_p.G77R	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	652	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CTGTGTGGCCGGAACCAACCT	0.607																																						uc003wpx.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(1954-1956)Gga>Aga		Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.							139.0	110.0	120.0					8																	2040299		2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2040299G>A		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1954G>A	8.37:g.2040299G>A	ENSP00000262113:p.Gly652Arg					MYOM2_uc011kwi.2_Missense_Mutation_p.G77R	p.G652R	NM_003970	NP_003961	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	15	2092	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	652			Fibronectin type-III 3.		Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.1954G>A	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.217399	0.79352	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.59083	0.29;0.29	5.72	5.72	0.89469	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.80944	0.4721	M	0.88310	2.945	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.81090	-0.1090	10	0.41790	T	0.15	.	19.8835	0.96906	0.0:0.0:1.0:0.0	.	652	P54296	MYOM2_HUMAN	R	652;77	ENSP00000262113:G652R;ENSP00000428396:G77R	ENSP00000262113:G652R	G	+	1	0	MYOM2	2027706	1.000000	0.71417	0.209000	0.23619	0.372000	0.29890	9.480000	0.97931	2.705000	0.92388	0.555000	0.69702	GGA		0.607	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970	
CSMD1	64478	broad.mit.edu	37	8	2855644	2855644	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr8:2855644G>C	ENST00000520002.1	-	55	8824	c.8269C>G	c.(8269-8271)Ctg>Gtg	p.L2757V	CSMD1_ENST00000537824.1_Missense_Mutation_p.L2756V|CSMD1_ENST00000602723.1_Missense_Mutation_p.L2699V|CSMD1_ENST00000400186.3_Missense_Mutation_p.L2699V|CSMD1_ENST00000542608.1_Missense_Mutation_p.L2698V|CSMD1_ENST00000602557.1_Missense_Mutation_p.L2757V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2757	Sushi 19. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACATCATTCAGGTTGAACTCA	0.527																																						uc022aqr.1																			0				breast(20)|large_intestine(5)	25						c.(8266-8268)Ctg>Gtg		Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.							143.0	139.0	140.0					8																	2855644		2018	4190	6208	SO:0001583	missense	64478					integral to membrane		g.chr8:2855644G>C			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8269C>G	8.37:g.2855644G>C	ENSP00000430733:p.Leu2757Val					CSMD1_uc011kwj.2_Missense_Mutation_p.L2086V|CSMD1_uc010lrg.3_Missense_Mutation_p.L767V	p.L2756V	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	53	8656	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2757			Sushi 19.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.8266C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.82|15.82	2.945191|2.945191	0.53079|0.53079	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.62639|.	0.01;0.01;0.01;0.01|.	6.07|6.07	5.09|5.09	0.68999|0.68999	Complement control module (2);Sushi/SCR/CCP (3);|.	0.000000|.	0.64402|.	D|.	0.000018|.	T|T	0.34483|0.34483	0.0899|0.0899	N|N	0.13352|0.13352	0.335|0.335	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.992;0.961;0.999|.	D;D;D|.	0.85130|.	0.987;0.912;0.997|.	T|T	0.17653|0.17653	-1.0362|-1.0362	10|5	0.30078|.	T|.	0.28|.	.|.	4.0625|4.0625	0.09846|0.09846	0.3048:0.0:0.6952:0.0|0.3048:0.0:0.6952:0.0	.|.	2757;2757;2698|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	V|R	2699;2757;2618;2756;2698|2173	ENSP00000383047:L2699V;ENSP00000430733:L2757V;ENSP00000441462:L2756V;ENSP00000446243:L2698V|.	ENSP00000320445:L2618V|.	L|P	-|-	1|2	2|0	CSMD1|CSMD1	2843051|2843051	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.456000|0.456000	0.32438|0.32438	4.087000|4.087000	0.57671|0.57671	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	CTG|CCT		0.527	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
CDH17	1015	broad.mit.edu	37	8	95188833	95188833	+	Silent	SNP	G	G	A	rs148638200	byFrequency	TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr8:95188833G>A	ENST00000027335.3	-	5	484	c.360C>T	c.(358-360)aaC>aaT	p.N120N	CDH17_ENST00000450165.2_Silent_p.N120N|CDH17_ENST00000441892.2_Silent_p.N120N	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	120	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GTCGATTGTCGTTGATGTCCT	0.483																																						uc003ygh.2																			0				NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52						c.(358-360)aaC>aaT		Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.		A	,	10,4396	16.8+/-37.8	0,10,2193	246.0	206.0	220.0		360,360	-7.7	0.5	8	dbSNP_134	220	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CDH17	NM_001144663.1,NM_004063.3	,	0,10,6493	AA,AG,GG		0.0,0.227,0.0769	,	120/833,120/833	95188833	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	1015					integral to membrane	calcium ion binding	g.chr8:95188833G>A	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.360C>T	8.37:g.95188833G>A						CDH17_uc011lgo.1_Silent_p.N120N|CDH17_uc011lgp.1_Silent_p.N120N	p.N120N	NM_004063	NP_004054	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		4	485	-	Breast(36;4.65e-06)		120			Cadherin 1.		Q15336|Q2M2E0	Silent	SNP	ENST00000027335.3	37	c.360C>T	CCDS6260.1																																																																																				0.483	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063	
SPATA31C1	441452	broad.mit.edu	37	9	90536517	90536517	+	RNA	SNP	A	A	T			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr9:90536517A>T	ENST00000602681.1	+	0	1927							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GGAGTGACTCAGGAAGTGATT	0.507																																						uc010mqi.3																			0											c.(1693-1695)tcA>tcT		Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.							9.0	12.0	11.0					9																	90536517		692	1590	2282			441452							g.chr9:90536517A>T	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90536517A>T						FAM75C1_uc004apq.4_Silent_p.S548S	p.S565S	NM_001145124	NP_001138596					3	1724	+									Silent	SNP	ENST00000602681.1	37	c.1695A>T																																																																																					0.507	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124	
OR13C4	138804	broad.mit.edu	37	9	107288808	107288808	+	Missense_Mutation	SNP	G	G	A	rs139144967		TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr9:107288808G>A	ENST00000277216.3	-	1	682	c.683C>T	c.(682-684)aCg>aTg	p.T228M		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						GGCCGAGTTCGTTCGCAAGAT	0.403																																						uc011lvn.2																			0				breast(1)|large_intestine(2)|lung(14)|skin(1)	18						c.(682-684)aCg>aTg		Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.		G	MET/THR	3,4403	6.2+/-15.9	0,3,2200	122.0	123.0	123.0		683	2.5	0.7	9	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	yes	missense	OR13C4	NM_001001919.1	81	0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308	benign	228/319	107288808	4,13002	2203	4300	6503	SO:0001583	missense	138804				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107288808G>A		CCDS35088.1	9q31.1	2013-09-24			ENSG00000148136	ENSG00000148136		"""GPCR / Class A : Olfactory receptors"""	14722	protein-coding gene	gene with protein product							Standard	NM_001001919		Approved		uc011lvn.2	Q8NGS5	OTTHUMG00000020407	ENST00000277216.3:c.683C>T	9.37:g.107288808G>A	ENSP00000277216:p.Thr228Met						p.T228M	NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN			0	683	-			228					Q6IF51|Q96R41	Missense_Mutation	SNP	ENST00000277216.3	37	c.683C>T	CCDS35088.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	0.045	-1.271245	0.01421	6.81E-4	1.16E-4	ENSG00000148136	ENST00000277216;ENST00000545903	T	0.00048	8.82	3.66	2.5	0.30297	GPCR, rhodopsin-like superfamily (1);	0.215104	0.32068	N	0.006638	T	0.00039	0.0001	N	0.00260	-1.75	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.12344	-1.0551	10	0.40728	T	0.16	.	7.4383	0.27169	0.8898:0.0:0.1102:0.0	.	228	Q8NGS5	O13C4_HUMAN	M	228;257	ENSP00000277216:T228M	ENSP00000277216:T228M	T	-	2	0	OR13C4	106328629	0.966000	0.33281	0.670000	0.29842	0.002000	0.02628	1.659000	0.37387	0.551000	0.29008	-0.385000	0.06624	ACG		0.403	OR13C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053478.1		
